Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
ASCL1	429	broad.mit.edu	37	12	103352411	103352411	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr12:103352411G>A	ENST00000266744.3	+	1	948	c.389G>A	c.(388-390)cGc>cAc	p.R130H		NM_004316.3	NP_004307.2	P50553	ASCL1_HUMAN	achaete-scute family bHLH transcription factor 1	130					cerebral cortex GABAergic interneuron differentiation|negative regulation of apoptosis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|noradrenergic neuron fate commitment|Notch signaling pathway|positive regulation of neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|response to retinoic acid|sympathetic nervous system development	nucleus	bHLH transcription factor binding|E-box binding|sequence-specific DNA binding transcription factor activity|transcription factor binding transcription factor activity	p.R130H(1)		NS(3)|large_intestine(1)|lung(1)	5						GAGCGCAACCGCGTCAAGTTG	0.667000													5	31					0	0	1	0	0
BAI1	575	broad.mit.edu	37	8	143602246	143602246	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr8:143602246A>G	ENST00000517894.1	+	20	3878	c.2984A>G	c.(2983-2985)aAt>aGt	p.N995S	BAI1_ENST00000323289.5_Missense_Mutation_p.N995S			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	995					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					ATCTCCTCCAATGCCCTCATC	0.582000													21	41					0	0	1	0	0
TCEB1	6921	broad.mit.edu	37	8	74868182	74868182	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr8:74868182T>A	ENST00000602840.1	-	3	306	c.112A>T	c.(112-114)Aca>Tca	p.T38S	TCEB1_ENST00000284811.8_Missense_Mutation_p.T38S|TCEB1_ENST00000520210.1_Missense_Mutation_p.T22S|TCEB1_ENST00000523815.1_Missense_Mutation_p.T38S|TCEB1_ENST00000520242.1_Missense_Mutation_p.T38S|TCEB1_ENST00000522337.1_Missense_Mutation_p.T38S|TCEB1_ENST00000519487.1_Missense_Mutation_p.T38S|TCEB1_ENST00000518127.1_Missense_Mutation_p.T38S			Q15369	ELOC_HUMAN	transcription elongation factor B (SIII), polypeptide 1 (15kDa, elongin C)	38					interspecies interaction between organisms|positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|ubiquitin-dependent protein catabolic process|viral reproduction	cytosol|nucleoplasm	protein binding			endometrium(2)|kidney(3)|lung(1)|prostate(1)	7	Breast(64;0.0311)		Epithelial(68;0.0136)|all cancers(69;0.0431)|BRCA - Breast invasive adenocarcinoma(89;0.0499)			GTGCCTGATGTTAATGCATGT	0.373000													20	30					0	0	1	0	0
ZNF716	441234	broad.mit.edu	37	7	57528838	57528838	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr7:57528838G>A	ENST00000420713.1	+	4	783	c.671G>A	c.(670-672)tGc>tAc	p.C224Y		NM_001159279.1	NP_001152751.1			zinc finger protein 716											breast(1)|kidney(1)|lung(20)|ovary(2)	24						TCCTTTAACTGCTCTTCAACC	0.393000													5	13					0	0	1	0	0
CARS	833	broad.mit.edu	37	11	3026597	3026597	+	Splice_Site	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:3026597C>T	ENST00000397114.3	-	20	2313	c.1938_splice	c.e20+1	p.R646_splice	CARS_ENST00000278224.9_Splice_Site_p.R656_splice|CARS_ENST00000397111.5_Splice_Site_p.R656_splice|CARS_ENST00000470221.2_5'UTR|CARS_ENST00000401769.3_Splice_Site_p.R669_splice|CARS_ENST00000380525.4_Splice_Site_p.R739_splice			P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase	656					cysteinyl-tRNA aminoacylation	cytoplasm|cytosol	ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|tRNA binding		CARS/ALK(5)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	TTTACTCACCCGTCTCTTTTC	0.368000			T	ALK	ALCL								20	41					0	0	1	0	0
CALHM1	255022	broad.mit.edu	37	10	105218265	105218265	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr10:105218265A>T	ENST00000329905.5	-	1	380	c.244T>A	c.(244-246)Tgg>Agg	p.W82R	RP11-225H22.4_ENST00000411906.1_RNA	NM_001001412.3	NP_001001412.3	Q8IU99	CAHM1_HUMAN	calcium homeostasis modulator 1	82						endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel activity|identical protein binding			large_intestine(2)|liver(1)|lung(5)|ovary(1)	9						GGCCGCTTCCACTCTTCGGCC	0.657000													20	41					0	0	1	0	0
KIRREL2	84063	broad.mit.edu	37	19	36349430	36349430	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:36349430G>A	ENST00000360202.5	+	3	530	c.332G>A	c.(331-333)cGc>cAc	p.R111H	KIRREL2_ENST00000586102.2_Missense_Mutation_p.R111H|KIRREL2_ENST00000262625.7_Missense_Mutation_p.R111H|KIRREL2_ENST00000347900.6_Missense_Mutation_p.R61H|KIRREL2_ENST00000592409.1_Missense_Mutation_p.R111H|NPHS1_ENST00000591817.1_Intron	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	111	Ig-like C2-type 1.				cell adhesion	integral to membrane|plasma membrane		p.R111H(2)		breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GCAGGCCTCCGCTCCAGACCA	0.592000													14	89					0	0	1	0	0
GLIS2	84662	broad.mit.edu	37	16	4385070	4385070	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr16:4385070C>T	ENST00000262366.3	+	6	1353	c.532C>T	c.(532-534)Ctc>Ttc	p.L178F	PAM16_ENST00000577031.1_Intron|GLIS2_ENST00000433375.1_Missense_Mutation_p.L178F			Q9BZE0	GLIS2_HUMAN	GLIS family zinc finger 2	178					cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development	cytoplasm|nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|transcription regulatory region DNA binding|zinc ion binding			breast(1)|cervix(4)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	11						GTGTAACCAGCTCTTTGAGCT	0.612000													22	76					0	0	1	0	0
ITGAV	3685	broad.mit.edu	37	2	187528564	187528564	+	Splice_Site	SNP	T	T	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr2:187528564T>C	ENST00000261023.3	+	19	2199		c.e19+2		ITGAV_ENST00000374907.3_Splice_Site|ITGAV_ENST00000433736.2_Splice_Site|AC017101.10_ENST00000453665.1_RNA	NM_002210.3	NP_002201.1	P06756	ITAV_HUMAN	integrin, alpha V						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|ERK1 and ERK2 cascade|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)		TGTAGATAGGTAAGTTTTGCT	0.313000													10	22					0	0	1	0	0
GALNT2	2590	broad.mit.edu	37	1	230313996	230313996	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:230313996G>C	ENST00000366672.4	+	2	231	c.159G>C	c.(157-159)aaG>aaC	p.K53N	GALNT2_ENST00000543760.1_Missense_Mutation_p.K15N|GALNT2_ENST00000541865.1_Intron	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)	53					immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				CCATTAAAAAGAAAGACCTTC	0.463000													18	38					0	0	1	0	0
NLRP10	338322	broad.mit.edu	37	11	7981479	7981479	+	Silent	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:7981479G>T	ENST00000328600.2	-	2	1841	c.1680C>A	c.(1678-1680)acC>acA	p.T560T		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	560							ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CCAAATCCCAGGTCCTGTTGT	0.368000													6	42					0.0215528	0.0220241	1	1	0
RIMBP2	23504	broad.mit.edu	37	12	130941116	130941116	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr12:130941116G>T	ENST00000261655.4	-	4	395	c.232C>A	c.(232-234)Ccc>Acc	p.P78T	RIMBP2_ENST00000536002.1_5'UTR|RIMBP2_ENST00000535703.1_5'UTR	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	78						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)		ATGTCCAGGGGGGCCACCGCG	0.632000													17	26					1.99824e-07	2.35278e-07	1	1	0
SEMA5B	54437	broad.mit.edu	37	3	122645426	122645426	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr3:122645426G>T	ENST00000195173.4	-	9	1252	c.949C>A	c.(949-951)Cgc>Agc	p.R317S	SEMA5B_ENST00000451055.2_Missense_Mutation_p.R371S|SEMA5B_ENST00000357599.3_Missense_Mutation_p.R317S			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	317	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		CGGGCCACGCGAGAGTACACG	0.602000													16	30					6.72482e-11	8.5752e-11	1	1	0
SPTA1	6708	broad.mit.edu	37	1	158613176	158613176	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:158613176G>T	ENST00000368148.3	-	31	4558	c.4378C>A	c.(4378-4380)Ctc>Atc	p.L1460I	SPTA1_ENST00000368147.3_Missense_Mutation_p.L1460I	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1460					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)					TCAGCAATGAGGCTCTCAGCA	0.458000													19	68					3.08376e-08	3.69097e-08	1	1	0
CCDC92	80212	broad.mit.edu	37	12	124428010	124428010	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr12:124428010T>C	ENST00000545135.1	-	1	3310	c.14A>G	c.(13-15)aAc>aGc	p.N5S	CCDC92_ENST00000238156.3_Missense_Mutation_p.N22S|CCDC92_ENST00000545891.1_Missense_Mutation_p.N5S|CCDC92_ENST00000544798.1_5'UTR			Q53HC0	CCD92_HUMAN	coiled-coil domain containing 92	22										large_intestine(5)|lung(2)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)		GTTCTCCAGGTTTGTGGCTGC	0.627000													60	126					0	0	1	0	0
VDR	7421	broad.mit.edu	37	12	48251338	48251338	+	Silent	SNP	G	G	A	rs144628070		TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr12:48251338G>A	ENST00000229022.3	-	6	692	c.411C>T	c.(409-411)gaC>gaT	p.D137D	VDR_ENST00000549336.1_Silent_p.D137D|VDR_ENST00000395324.2_Silent_p.D137D|VDR_ENST00000550325.1_Silent_p.D187D|VDR_ENST00000535672.1_Silent_p.D105D	NM_001017535.1	NP_001017535.1	P11473	VDR_HUMAN	vitamin D (1,25- dihydroxyvitamin D3) receptor	137	Hinge.				decidualization|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D 24-hydroxylase activity|regulation of calcidiol 1-monooxygenase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid X receptor binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|vitamin D3 receptor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(3)|skin(2)	22		Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214)		GBM - Glioblastoma multiforme(48;0.17)	Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	TATGGTGGGCGTCCAGCAGTA	0.597000													10	93					0	0	1	0	0
ADGRG6	57211	broad.mit.edu	37	6	142725013	142725013	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr6:142725013G>A	ENST00000230173.6	+	14	2506	c.2030G>A	c.(2029-2031)cGg>cAg	p.R677Q	GPR126_ENST00000367609.3_Missense_Mutation_p.R677Q|GPR126_ENST00000296932.8_Missense_Mutation_p.R649Q|GPR126_ENST00000367608.2_Missense_Mutation_p.R649Q	NM_020455.5	NP_065188.4	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	677					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		ATTACAACTCGGAACTTGGCT	0.368000													10	40					0	0	1	0	0
TRAF6	7189	broad.mit.edu	37	11	36511395	36511395	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:36511395C>T	ENST00000526995.1	-	7	1808	c.1562G>A	c.(1561-1563)gGg>gAg	p.G521E	TRAF6_ENST00000348124.5_Missense_Mutation_p.G521E	NM_004620.3	NP_004611.1	Q9Y4K3	TRAF6_HUMAN	TNF receptor-associated factor 6, E3 ubiquitin protein ligase	521					activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|ossification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell cytokine production|protein autoubiquitination|protein K63-linked ubiquitination|response to interleukin-1|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cell cortex|cytosol|endosome membrane|internal side of plasma membrane|nuclear membrane	histone deacetylase binding|mitogen-activated protein kinase kinase kinase binding|protein kinase B binding|protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)	27	all_lung(20;0.211)	all_hematologic(20;0.107)				AAGCTATACCCCTGCATCAGT	0.488000													23	163					0	0	1	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88885952	88885952	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr8:88885952G>A	ENST00000319675.3	-	1	344	c.248C>T	c.(247-249)aCt>aTt	p.T83I		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	83										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						GAGCTGGTCAGTGTTGGTATT	0.547000													36	67					0	0	1	0	0
ETFDH	2110	broad.mit.edu	37	4	159627914	159627914	+	Silent	SNP	G	G	A	rs142475999	byFrequency	TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr4:159627914G>A	ENST00000511912.1	+	12	1934	c.1602G>A	c.(1600-1602)ccG>ccA	p.P534P	ETFDH_ENST00000307738.5_Silent_p.P487P	NM_004453.2	NP_004444.2	Q16134	ETFD_HUMAN	electron-transferring-flavoprotein dehydrogenase	534					fatty acid beta-oxidation using acyl-CoA dehydrogenase|respiratory electron transport chain|response to oxidative stress|transport	integral to mitochondrial inner membrane|mitochondrial matrix	4 iron, 4 sulfur cluster binding|electron carrier activity|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity, oxidizing metal ions with flavin as acceptor|ubiquinone binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3)	28	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0172)		ATGACCAGCCGGCACACTTAA	0.443000													23	135					0	0	1	0	0
PCDHGA9	56107	broad.mit.edu	37	5	140782686	140782686	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr5:140782686C>A	ENST00000573521.1	+	1	167	c.167C>A	c.(166-168)cCc>cAc	p.P56H	PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTCTGGAGCCCCGGGAGCTG	0.612000													33	73					2.42023e-17	3.46431e-17	1	1	0
FAM105A	54491	broad.mit.edu	37	5	14601150	14601150	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr5:14601150T>A	ENST00000274217.3	+	2	261	c.141T>A	c.(139-141)ttT>ttA	p.F47L		NM_019018.2	NP_061891.1	Q9NUU6	F105A_HUMAN	family with sequence similarity 105, member A	47										large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Lung NSC(4;0.00592)					CAAAAGGCTTTGTGATGTTGG	0.428000													8	201					0	0	1	0	0
C2CD5	9847	broad.mit.edu	37	12	22609907	22609907	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr12:22609907C>A	ENST00000333957.4	-	23	2977	c.2722G>T	c.(2722-2724)Gag>Tag	p.E908*	C2CD5_ENST00000446597.1_Nonsense_Mutation_p.E959*|C2CD5_ENST00000545552.1_Nonsense_Mutation_p.E962*|C2CD5_ENST00000542676.1_Nonsense_Mutation_p.E959*|C2CD5_ENST00000536386.1_Nonsense_Mutation_p.E961*|C2CD5_ENST00000544930.1_Nonsense_Mutation_p.E764*|C2CD5_ENST00000396028.2_Nonsense_Mutation_p.E950*	NM_014802.1	NP_055617.1			C2 calcium-dependent domain containing 5																		AAAATTACCTCCCGAAGAGAA	0.269000													10	28					1.58986e-06	1.82314e-06	1	1	0
CHST5	23563	broad.mit.edu	37	16	75563756	75563756	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr16:75563756G>A	ENST00000336257.3	-	3	1921	c.527C>T	c.(526-528)aCg>aTg	p.T176M	RP11-77K12.7_ENST00000460606.1_3'UTR|CHST5_ENST00000541075.1_Missense_Mutation_p.T182M	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5	176					N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity	p.T176M(2)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						TGGCTGCCGCGTGCACAGTGT	0.662000													5	193					0	0	1	0	0
CROCC	9696	broad.mit.edu	37	1	17249172	17249172	+	Silent	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:17249172C>T	ENST00000375541.5	+	2	144	c.75C>T	c.(73-75)agC>agT	p.S25S		NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	25					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		TGGAGAGCAGCGTCCTGTGCC	0.647000													44	254					0	0	1	0	0
HIST1H2BJ	8970	broad.mit.edu	37	6	27100252	27100252	+	Missense_Mutation	SNP	C	C	G	rs116395770	byFrequency	TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr6:27100252C>G	ENST00000607124.1	-	1	277	c.278G>C	c.(277-279)aGg>aCg	p.R93T	HIST1H2BJ_ENST00000339812.2_Missense_Mutation_p.R93T|HIST1H2BJ_ENST00000541790.1_Missense_Mutation_p.R93T			P06899	H2B1J_HUMAN	histone cluster 1, H2bj	93					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|kidney(2)|lung(5)|ovary(1)|prostate(1)	10						CTGGATCTCCCTGGAGGTGAT	0.597000													34	80					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13916564	13916564	+	Splice_Site	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr5:13916564G>T	ENST00000265104.4	-	9	1194	c.1089_splice	c.e9-1	p.L364_splice		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	364	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)					ATCATGGATAGCTGAAAGATA	0.299000									Kartagener syndrome				10	47					7.48243e-07	8.66895e-07	1	1	0
HCFC1	3054	broad.mit.edu	37	X	153218232	153218232	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:153218232G>T	ENST00000310441.7	-	19	5641	c.4675C>A	c.(4675-4677)Cag>Aag	p.Q1559K	HCFC1_ENST00000369984.4_Missense_Mutation_p.Q1603K|HCFC1_ENST00000354233.3_Missense_Mutation_p.Q1490K	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	1559					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCAGACTCCTGGCCCGAAGAT	0.652000											OREG0003630	type=REGULATORY REGION|Gene=BC010606|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	3	27					0.115264	0.116511	1	1	0
AFAP1	60312	broad.mit.edu	37	4	7787982	7787982	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr4:7787982C>A	ENST00000420658.1	-	12	1741	c.1469G>T	c.(1468-1470)gGc>gTc	p.G490V	AFAP1_ENST00000360265.4_Missense_Mutation_p.G490V|AFAP1_ENST00000513842.1_5'UTR|AFAP1_ENST00000382543.3_Missense_Mutation_p.G490V|AFAP1_ENST00000358461.2_Missense_Mutation_p.G490V	NM_001134647.1	NP_001128119.1	Q8N556	AFAP1_HUMAN	actin filament associated protein 1	490						actin cytoskeleton|cytoplasm|focal adhesion	actin binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						GTGGGCATAGCCGTTGGAGGT	0.483000													39	85					3.43241e-23	5.19494e-23	1	1	0
GLRA2	2742	broad.mit.edu	37	X	14550436	14550436	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:14550436G>T	ENST00000218075.4	+	2	674	c.144G>T	c.(142-144)ttG>ttT	p.L48F	GLRA2_ENST00000355020.4_Missense_Mutation_p.L48F|GLRA2_ENST00000443437.2_5'UTR	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	48					neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)	CAGATTTCTTGGACAAGTTAA	0.398000													35	72					1.36161e-19	2.00138e-19	1	1	0
SHOX	6473	broad.mit.edu	37	X	591755	591755	+	Missense_Mutation	SNP	C	C	A	rs140473647		TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:591755C>A	ENST00000381578.1	+	2	814	c.123C>A	c.(121-123)agC>agA	p.S41R	SHOX_ENST00000334060.3_Missense_Mutation_p.S41R|SHOX_ENST00000554971.1_Missense_Mutation_p.S41R|SHOX_ENST00000381575.1_Missense_Mutation_p.S41R	NM_000451.3	NP_000442.1	O15266	SHOX_HUMAN	short stature homeobox	41					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)				TTTTGGAGAGCGGACTGGCGC	0.612000													32	135					2.47316e-13	3.30787e-13	1	1	0
HOXA10	3206	broad.mit.edu	37	7	27212969	27212969	+	Splice_Site	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr7:27212969C>A	ENST00000283921.4	-	1	956	c.958_splice	c.e1+1	p.L319_splice	RP1-170O19.20_ENST00000470747.4_Intron|RP1-170O19.20_ENST00000465941.1_Intron|HOXA10_ENST00000396344.4_Intron	NM_018951.3	NP_061824.3	P31260	HXA10_HUMAN	homeobox A10	319					spermatogenesis		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	9						CCTGCTTACCCAGGGAATCCT	0.687000													4	36					0.000602214	0.000639568	1	1	0
TTN	7273	broad.mit.edu	37	2	179479024	179479024	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr2:179479024G>A	ENST00000589042.1	-	262	49324	c.49100C>T	c.(49099-49101)tCa>tTa	p.S16367L	TTN_ENST00000591111.1_Missense_Mutation_p.S14726L|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S7427L|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S7494L|TTN_ENST00000342992.6_Missense_Mutation_p.S13799L|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S7302L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	14726	Ig-like 100.						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)			TAGAAGACATGACTCATTGGT	0.428000													19	49					0	0	1	0	0
LRFN1	57622	broad.mit.edu	37	19	39804986	39804986	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:39804986C>A	ENST00000248668.4	-	1	990	c.991G>T	c.(991-993)Gtg>Ttg	p.V331L		NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	331	Ig-like.					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)			ACCCAGTGCACCACCGGCTCG	0.736000													3	14					1	1	1	1	0
OXNAD1	92106	broad.mit.edu	37	3	16312542	16312542	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr3:16312542T>C	ENST00000285083.5	+	3	548	c.83T>C	c.(82-84)tTg>tCg	p.L28S	OXNAD1_ENST00000544043.1_Missense_Mutation_p.L46S|OXNAD1_ENST00000605932.1_Missense_Mutation_p.L28S|OXNAD1_ENST00000435829.2_Missense_Mutation_p.L46S|OXNAD1_ENST00000606098.1_Missense_Mutation_p.L28S	NM_138381.3	NP_612390.1	Q96HP4	OXND1_HUMAN	oxidoreductase NAD-binding domain containing 1	28							oxidoreductase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|skin(2)	13						TCACTGAGATTGACACTCAGC	0.498000													57	52					0	0	1	0	0
DUSP27	92235	broad.mit.edu	37	1	167083024	167083024	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:167083024A>T	ENST00000361200.2	+	3	354	c.188A>T	c.(187-189)aAa>aTa	p.K63I	DUSP27_ENST00000443333.1_Missense_Mutation_p.K63I|DUSP27_ENST00000271385.5_Missense_Mutation_p.K63I			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	63					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						ATTGCAGCCAAACAGATCATC	0.468000													30	206					0	0	1	0	0
HPGD	3248	broad.mit.edu	37	4	175439175	175439175	+	Translation_Start_Site	SNP	T	T	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr4:175439175T>C	ENST00000510901.1	-	0	619				HPGD_ENST00000296521.7_Missense_Mutation_p.N91D|HPGD_ENST00000504433.1_Missense_Mutation_p.N91D|HPGD_ENST00000422112.2_Intron|HPGD_ENST00000296522.6_Missense_Mutation_p.N91D|HPGD_ENST00000542498.1_Missense_Mutation_p.N91D|HPGD_ENST00000541923.1_Intron			P15428	PGDH_HUMAN	hydroxyprostaglandin dehydrogenase 15-(NAD)						female pregnancy|lipoxygenase pathway|negative regulation of cell cycle|parturition|prostaglandin metabolic process|transforming growth factor beta receptor signaling pathway	cytosol|nucleus	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|NAD+ binding|prostaglandin E receptor activity|protein homodimerization activity			kidney(1)|lung(3)|prostate(3)	7		Prostate(90;0.00763)|Melanoma(52;0.0179)|Renal(120;0.0376)|Breast(14;0.0991)|all_hematologic(60;0.124)|all_neural(102;0.196)		all cancers(43;2.6e-18)|Epithelial(43;4.19e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.23e-09)|GBM - Glioblastoma multiforme(59;0.00176)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.0253)	NADH(DB00157)	ACTCCAGCATTATTGACCAAA	0.279000													8	24					0	0	1	0	0
GLB1L3	112937	broad.mit.edu	37	11	134188564	134188564	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:134188564C>A	ENST00000431683.2	+	19	1819	c.1819C>A	c.(1819-1821)Ctt>Att	p.L607I		NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	607					carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		TGGACGTAACCTTGGGCGATA	0.428000													3	17					1	1	1	1	0
LOC644669	644669	broad.mit.edu	37	18	15323315	15323315	+	RNA	SNP	T	T	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr18:15323315T>A	ENST00000455308.2	-	0	533					NR_027417.1																						TTCCACAATTTGCTCACTTCT	0.308000													3	4					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144990541	144990541	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr8:144990541G>A	ENST00000322810.4	-	32	14028	c.13859C>T	c.(13858-13860)tCc>tTc	p.S4620F	PLEC_ENST00000398774.2_Missense_Mutation_p.S4451F|PLEC_ENST00000527096.1_Missense_Mutation_p.S4506F|PLEC_ENST00000354958.2_Missense_Mutation_p.S4461F|PLEC_ENST00000436759.2_Missense_Mutation_p.S4510F|PLEC_ENST00000357649.2_Missense_Mutation_p.S4487F|PLEC_ENST00000354589.3_Missense_Mutation_p.S4483F|PLEC_ENST00000356346.3_Missense_Mutation_p.S4469F|PLEC_ENST00000345136.3_Missense_Mutation_p.S4483F	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4620	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						GGTAGAGCCGGAGCCGCTGAC	0.736000													20	28					0	0	1	0	0
FAM127A	8933	broad.mit.edu	37	X	134166523	134166523	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:134166523C>A	ENST00000257013.7	+	1	191	c.110C>A	c.(109-111)aCc>aAc	p.T37N	FAM127A_ENST00000464369.1_3'UTR	NM_001078171.1	NP_001071639.1	A6ZKI3	F127A_HUMAN	family with sequence similarity 127, member A	37										endometrium(3)|urinary_tract(1)	4	Acute lymphoblastic leukemia(192;0.000127)					GACGGCGATACCGACCGACTC	0.622000													25	114					3.01185e-09	3.67951e-09	1	1	0
ZNF219	51222	broad.mit.edu	37	14	21560060	21560060	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr14:21560060C>A	ENST00000360947.3	-	3	1807	c.1396G>T	c.(1396-1398)Gct>Tct	p.A466S	ZNF219_ENST00000421093.2_Missense_Mutation_p.A466S|ZNF219_ENST00000451119.2_Missense_Mutation_p.A466S|RP11-998D10.7_ENST00000554733.2_lincRNA	NM_016423.2	NP_057507.2	Q9P2Y4	ZN219_HUMAN	zinc finger protein 219	466					negative regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|histamine receptor activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(2)	8	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;9.86e-11)|Epithelial(56;1.27e-08)|all cancers(55;6.06e-08)	GBM - Glioblastoma multiforme(265;0.0191)		GCCCCAGCAGCAGAGGCAGAG	0.706000													5	20					0.0293803	0.0299002	1	1	0
SLC6A17	388662	broad.mit.edu	37	1	110740798	110740798	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:110740798G>C	ENST00000331565.4	+	12	2401	c.1916G>C	c.(1915-1917)cGg>cCg	p.R639P		NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	639					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)		TTCGTCCTGCGGCACTTCCAC	0.597000													16	21					0	0	1	0	0
PPP1R17	10842	broad.mit.edu	37	7	31735133	31735133	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr7:31735133A>G	ENST00000342032.3	+	3	761	c.133A>G	c.(133-135)Aga>Gga	p.R45G	PPP1R17_ENST00000409146.3_Intron	NM_006658.4	NP_006649.2	O96001	GSUB_HUMAN	protein phosphatase 1, regulatory subunit 17	45					behavior|central nervous system development|intracellular protein kinase cascade|protein phosphorylation	soluble fraction											AAAGAAGCCTAGAAAGGGAAA	0.388000													11	159					0	0	1	0	0
TJAP1	93643	broad.mit.edu	37	6	43473214	43473214	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr6:43473214C>T	ENST00000372444.2	+	11	1698	c.1265C>T	c.(1264-1266)aCa>aTa	p.T422I	TJAP1_ENST00000372449.1_Missense_Mutation_p.T432I|TJAP1_ENST00000259751.1_Missense_Mutation_p.T422I|TJAP1_ENST00000438588.2_Missense_Mutation_p.T432I|TJAP1_ENST00000483640.1_3'UTR|TJAP1_ENST00000436109.2_Missense_Mutation_p.T422I|TJAP1_ENST00000372445.5_Missense_Mutation_p.T432I|TJAP1_ENST00000372452.1_Missense_Mutation_p.T422I	NM_001146018.1	NP_001139490.1	Q5JTD0	TJAP1_HUMAN	tight junction associated protein 1 (peripheral)	432						Golgi apparatus|tight junction	protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|urinary_tract(2)	21	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			GCCCAGCGCACAGCCTTTGGA	0.642000													12	59					0	0	1	0	0
GABRA4	2557	broad.mit.edu	37	4	46930762	46930762	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr4:46930762G>T	ENST00000264318.3	-	9	2127	c.1145C>A	c.(1144-1146)gCc>gAc	p.A382D		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	382					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GTTCAAATTGGCATTTGTATT	0.313000													16	40					8.00594e-06	8.98315e-06	1	1	0
HORMAD1	84072	broad.mit.edu	37	1	150689667	150689667	+	Translation_Start_Site	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:150689667G>A	ENST00000368995.4	-	0	230				HORMAD1_ENST00000368993.2_Missense_Mutation_p.T42M|HORMAD1_ENST00000361824.2_Missense_Mutation_p.T42M|HORMAD1_ENST00000322343.7_Missense_Mutation_p.T42M|HORMAD1_ENST00000476530.1_5'UTR			Q86X24	HORM1_HUMAN	HORMA domain containing 1						blastocyst development|cell differentiation|meiotic DNA double-strand break formation|meiotic recombination checkpoint|meiotic sister chromatid cohesion|mitosis|oogenesis|regulation of homologous chromosome segregation|spermatogenesis|synaptonemal complex assembly	chromosome|nucleus				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3)	16	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			CCTCAAATACGTGATACAGGA	0.338000													15	104					0	0	1	0	0
KIRREL3	84623	broad.mit.edu	37	11	126306759	126306759	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:126306759G>T	ENST00000525144.2	-	12	1748	c.1499C>A	c.(1498-1500)aCg>aAg	p.T500K	KIRREL3_ENST00000525704.2_Missense_Mutation_p.T500K|KIRREL3_ENST00000416561.2_5'UTR|KIRREL3_ENST00000529097.2_Missense_Mutation_p.T500K	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	500	Ig-like C2-type 5.				hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding			central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		GTTCCAGGCCGTGCAGTTGTA	0.592000													11	41					1.36491e-13	1.83213e-13	1	1	0
ZNF462	58499	broad.mit.edu	37	9	109689143	109689143	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr9:109689143G>T	ENST00000277225.5	+	3	3239	c.2950G>T	c.(2950-2952)Gct>Tct	p.A984S	ZNF462_ENST00000457913.1_Missense_Mutation_p.A984S			Q96JM2	ZN462_HUMAN	zinc finger protein 462	984					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						TCTGAATTCGGCTCCCAAGAA	0.493000													31	74					2.65835e-16	3.7572e-16	1	1	0
DCAF13	25879	broad.mit.edu	37	8	104452493	104452493	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr8:104452493G>T	ENST00000297579.5	+	9	1813	c.1536G>T	c.(1534-1536)ttG>ttT	p.L512F	DCAF13_ENST00000521999.1_3'UTR	NM_015420.6	NP_056235.4	Q9NV06	DCA13_HUMAN	DDB1 and CUL4 associated factor 13	360					rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex				NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						CTGAAAAATTGGGTGTGGTAA	0.303000													28	70					2.4375e-19	3.56409e-19	1	1	0
SLC35F1	222553	broad.mit.edu	37	6	118475641	118475641	+	Silent	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr6:118475641G>T	ENST00000360388.4	+	2	408	c.207G>T	c.(205-207)gtG>gtT	p.V69V		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	69					transport	integral to membrane				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		TAGGCCAGGTGTTATCCCTCC	0.418000													38	46					2.05212e-20	3.04224e-20	1	1	0
C6	729	broad.mit.edu	37	5	41195894	41195894	+	Splice_Site	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr5:41195894C>A	ENST00000263413.3	-	5	851	c.587_splice	c.e5+1	p.G196_splice	C6_ENST00000337836.5_Splice_Site_p.G196_splice	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	196	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TGTTACATACCCATTGCCCAT	0.433000													77	190					8.2577e-42	1.33061e-41	1	1	0
PKD2L1	9033	broad.mit.edu	37	10	102056843	102056843	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr10:102056843C>A	ENST00000318222.3	-	6	1461	c.1079G>T	c.(1078-1080)tGc>tTc	p.C360F	PKD2L1_ENST00000338519.3_Missense_Mutation_p.C285F|PKD2L1_ENST00000353274.3_Missense_Mutation_p.C360F	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	360					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)		GATGAAGACGCAGAAGATGAC	0.527000													20	49					3.10358e-05	3.42585e-05	1	1	0
PAPPA2	60676	broad.mit.edu	37	1	176762730	176762730	+	Silent	SNP	C	C	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:176762730C>G	ENST00000367662.3	+	20	6219	c.5055C>G	c.(5053-5055)ccC>ccG	p.P1685P		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1685	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						TAATCCCCCCCAGTGACCCCG	0.473000													11	108					0	0	1	0	0
TTC3	7267	broad.mit.edu	37	21	38559406	38559406	+	Missense_Mutation	SNP	A	A	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr21:38559406A>C	ENST00000399017.2	+	38	7630	c.4883A>C	c.(4882-4884)gAg>gCg	p.E1628A	TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000355666.1_Missense_Mutation_p.E1628A|TTC3_ENST00000354749.2_Missense_Mutation_p.E1628A	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1628					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				AAAGGGAAAGAGGATTATGAA	0.333000													9	29					0	0	1	0	0
ZNF449	203523	broad.mit.edu	37	X	134481311	134481311	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:134481311G>T	ENST00000339249.4	+	2	408	c.268G>T	c.(268-270)Gtg>Ttg	p.V90L	ZNF449_ENST00000370761.3_Missense_Mutation_p.V90L|ZNF449_ENST00000370760.3_Missense_Mutation_p.V90L	NM_152695.5	NP_689908.3	Q6P9G9	ZN449_HUMAN	zinc finger protein 449	90	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					AGAGACCTGGGTGAGGGAGCA	0.468000													4	55					0.00024832	0.000267138	1	1	0
RTF1	23168	broad.mit.edu	37	15	41767986	41767986	+	Missense_Mutation	SNP	A	A	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr15:41767986A>C	ENST00000389629.4	+	11	1463	c.1451A>C	c.(1450-1452)aAt>aCt	p.N484T		NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN	Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	484	Plus3.				histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent	nucleoplasm	protein binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		GAAGCTCTTAATTATAAATTC	0.388000													6	25					0	0	1	0	0
CARD14	79092	broad.mit.edu	37	17	78163618	78163618	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr17:78163618C>A	ENST00000573882.1	+	8	1446	c.910C>A	c.(910-912)Cgc>Agc	p.R304S	CARD14_ENST00000573754.1_3'UTR|CARD14_ENST00000570421.1_Missense_Mutation_p.R304S|CARD14_ENST00000392434.2_Missense_Mutation_p.R67S|CARD14_ENST00000344227.2_Missense_Mutation_p.R304S			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14	304					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)			GCTGGTGGAGCGCATCCACTC	0.687000													12	71					1.36491e-13	1.83213e-13	1	1	0
AMPH	273	broad.mit.edu	37	7	38433714	38433714	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr7:38433714G>T	ENST00000356264.2	-	18	1714	c.1499C>A	c.(1498-1500)cCt>cAt	p.P500H	AMPH_ENST00000428293.2_Missense_Mutation_p.P458H|AMPH_ENST00000471913.1_5'UTR|AMPH_ENST00000325590.5_Missense_Mutation_p.P458H	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	500					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						TTCCCCGGCAGGGACAGTGGC	0.567000													75	172					3.33186e-49	5.40373e-49	1	1	0
ZMYM3	9203	broad.mit.edu	37	X	70468355	70468355	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:70468355C>A	ENST00000373998.1	-	10	2454	c.1757G>T	c.(1756-1758)gGc>gTc	p.G586V	ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000314425.5_Missense_Mutation_p.G586V|ZMYM3_ENST00000373984.3_Missense_Mutation_p.G588V|ZMYM3_ENST00000373988.1_Missense_Mutation_p.G588V|ZMYM3_ENST00000353904.2_Missense_Mutation_p.G586V	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	586					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					CAGGTGAATGCCCCCCTCAGG	0.597000													6	27					0.00116845	0.00122986	1	1	0
NCKAP1	10787	broad.mit.edu	37	2	183800042	183800042	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr2:183800042C>A	ENST00000360982.2	-	26	3533	c.2775G>T	c.(2773-2775)ttG>ttT	p.L925F	NCKAP1_ENST00000361354.3_Missense_Mutation_p.L919F|NCKAP1_ENST00000478449.1_5'UTR	NM_205842.1	NP_995314.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	919					apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			CTTCTTGTGCCAATGATCGGA	0.328000													12	37					0.00185496	0.00194515	1	1	0
ACADVL	37	broad.mit.edu	37	17	7126991	7126991	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr17:7126991T>A	ENST00000356839.5	+	12	1390	c.1211T>A	c.(1210-1212)aTg>aAg	p.M404K	ACADVL_ENST00000350303.5_Missense_Mutation_p.M382K|ACADVL_ENST00000543245.2_Missense_Mutation_p.M427K	NM_000018.3|NM_001270448.1	NP_000009.1|NP_001257377.1	P49748	ACADV_HUMAN	acyl-CoA dehydrogenase, very long chain	404	Catalytic.				energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis	mitochondrial inner membrane|mitochondrial nucleoid	long-chain-acyl-CoA dehydrogenase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(1)|ovary(4)|skin(1)	21						AGTGCTAACATGGACCAGGGA	0.547000													40	50					0	0	1	0	0
SLC16A14	151473	broad.mit.edu	37	2	230911238	230911238	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr2:230911238G>T	ENST00000295190.4	-	4	1062	c.604C>A	c.(604-606)Ctg>Atg	p.L202M		NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN	solute carrier family 16, member 14	202						integral to membrane|plasma membrane	symporter activity			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		CAAACACACAGGTTTAGGGAA	0.557000													37	115					2.40579e-17	3.44584e-17	1	1	0
TRIM38	10475	broad.mit.edu	37	6	25983574	25983574	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr6:25983574G>T	ENST00000357085.3	+	8	1533	c.1057G>T	c.(1057-1059)Gtt>Ttt	p.V353F	TRIM38_ENST00000349458.3_Missense_Mutation_p.V353F	NM_006355.3	NP_006346.1	O00635	TRI38_HUMAN	tripartite motif containing 38	353	B30.2/SPRY.				positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular	signal transducer activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	23						TGAAGTGGATGTTGGCGAAGG	0.507000													34	49					2.48696e-23	3.76654e-23	1	1	0
SYTL2	54843	broad.mit.edu	37	11	85420535	85420535	+	Silent	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:85420535G>A	ENST00000359152.5	-	6	4376	c.4377C>T	c.(4375-4377)ggC>ggT	p.G1459G	SYTL2_ENST00000527523.1_Silent_p.G581G|SYTL2_ENST00000524452.1_Silent_p.G589G|SYTL2_ENST00000389960.4_Silent_p.G589G|SYTL2_ENST00000316356.4_Silent_p.G614G|SYTL2_ENST00000529581.1_Silent_p.G55G|SYTL2_ENST00000528231.1_Silent_p.G613G|SYTL2_ENST00000389958.3_Silent_p.G44G|SYTL2_ENST00000525423.1_Silent_p.G935G|SYTL2_ENST00000533892.1_Silent_p.G15G|SYTL2_ENST00000354566.3_Silent_p.G951G|SYTL2_ENST00000525702.1_Silent_p.G55G	NM_206928.2	NP_996811.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	613					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase 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)		TCATCACACTGCCACTCACCT	0.388000													12	117					0	0	1	0	0
SLCO1B1	10599	broad.mit.edu	37	12	21331856	21331856	+	Splice_Site	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr12:21331856G>T	ENST00000256958.2	+	7	725	c.628_splice	c.e7-1	p.G210_splice		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	210					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	ATATTTTCAGGTATATTGAAT	0.308000													16	61					8.60227e-14	1.16094e-13	1	1	0
THSD7A	221981	broad.mit.edu	37	7	11675919	11675919	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr7:11675919C>G	ENST00000423059.3	-	2	1111	c.860G>C	c.(859-861)cGc>cCc	p.R287P		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	287						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)		TCCTTTGCTGCGGTCCTTTTC	0.502000										HNSCC(18;0.044)			26	148					0	0	1	0	0
NFATC1	4772	broad.mit.edu	37	18	77193703	77193703	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr18:77193703G>T	ENST00000253506.5	+	3	1720	c.1351G>T	c.(1351-1353)Gtg>Ttg	p.V451L	NFATC1_ENST00000587635.1_Missense_Mutation_p.V451L|NFATC1_ENST00000397790.2_5'UTR|NFATC1_ENST00000318065.5_Missense_Mutation_p.V438L|NFATC1_ENST00000427363.2_Missense_Mutation_p.V451L|NFATC1_ENST00000592223.1_Missense_Mutation_p.V438L|NFATC1_ENST00000591814.1_Missense_Mutation_p.V451L|NFATC1_ENST00000542384.1_Missense_Mutation_p.V451L|NFATC1_ENST00000545796.1_5'UTR|NFATC1_ENST00000329101.4_Missense_Mutation_p.V438L|NFATC1_ENST00000586434.1_Missense_Mutation_p.V438L	NM_006162.3	NP_006153.2	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	451	RHD.				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)		CCGGGGGGCCGTGAAGGCGTC	0.637000													57	91					4.95377e-46	8.01681e-46	1	1	0
PTCD1	26024	broad.mit.edu	37	7	99017596	99017596	+	Silent	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr7:99017596G>A	ENST00000292478.4	-	8	2347	c.2097C>T	c.(2095-2097)ggC>ggT	p.G699G	ATP5J2-PTCD1_ENST00000413834.1_Silent_p.G748G|PTCD1_ENST00000555673.1_Silent_p.G748G	NM_015545.3	NP_056360.2			pentatricopeptide repeat domain 1											endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			CCCATCACCTGCCCCCAAGGG	0.657000													17	154					0	0	1	0	0
RUSC2	9853	broad.mit.edu	37	9	35547964	35547964	+	Silent	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr9:35547964G>A	ENST00000455600.1	+	2	2015	c.1446G>A	c.(1444-1446)acG>acA	p.T482T		NM_001135999.1	NP_001129471.1	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	482						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)			AAGTATACACGAATACTTCAC	0.607000													18	94					0	0	1	0	0
CLIP1	6249	broad.mit.edu	37	12	122862383	122862383	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr12:122862383C>A	ENST00000358808.2	-	3	364	c.210G>T	c.(208-210)aaG>aaT	p.K70N	CLIP1_ENST00000540338.1_Missense_Mutation_p.K70N|CLIP1_ENST00000537178.1_Missense_Mutation_p.K70N|CLIP1_ENST00000361654.4_Missense_Mutation_p.K70N|CLIP1_ENST00000302528.7_Missense_Mutation_p.K70N	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	70					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		TAAATCCAGGCTTATTTCCAT	0.468000													72	156					1.42382e-21	2.12625e-21	1	1	0
PRRC2A	7916	broad.mit.edu	37	6	31602685	31602685	+	Silent	SNP	T	T	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr6:31602685T>G	ENST00000376033.2	+	21	5325	c.5091T>G	c.(5089-5091)ccT>ccG	p.P1697P	PRRC2A_ENST00000376007.4_Silent_p.P1697P	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	1697	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						ATGCTGTTCCTTGTGAGGGTC	0.592000													39	56					0	0	1	0	0
PPP1R13L	10848	broad.mit.edu	37	19	45889086	45889086	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:45889086C>T	ENST00000418234.2	-	10	2155	c.2077G>A	c.(2077-2079)Ggc>Agc	p.G693S	PPP1R13L_ENST00000360957.5_Missense_Mutation_p.G693S	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	693					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)		GCTCACCAGCCGTGGCTGTCG	0.687000													6	21					0	0	1	0	0
TMEM132E	124842	broad.mit.edu	37	17	32954026	32954026	+	Silent	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr17:32954026C>A	ENST00000321639.5	+	3	1006	c.678C>A	c.(676-678)gcC>gcA	p.A226A		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	226						integral to membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		TCTATCTGGCCCCCAACTCCT	0.617000													18	77					1.64113e-05	1.82231e-05	1	1	0
NPBWR2	2832	broad.mit.edu	37	20	62737585	62737585	+	Silent	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr20:62737585G>A	ENST00000369768.1	-	1	939	c.600C>T	c.(598-600)agC>agT	p.S200S		NM_005286.2	NP_005277.2	P48146	NPBW2_HUMAN	neuropeptides B/W receptor 2	200						plasma membrane	opioid receptor activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					GCCACGGGAAGCTCAGCCCAC	0.622000													9	47					0	0	1	0	0
SRGAP1	57522	broad.mit.edu	37	12	64491126	64491126	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr12:64491126A>T	ENST00000355086.3	+	15	2308	c.1784A>T	c.(1783-1785)gAa>gTa	p.E595V	SRGAP1_ENST00000357825.3_Missense_Mutation_p.E572V|RP11-196H14.2_ENST00000535594.1_RNA|SRGAP1_ENST00000543397.1_Missense_Mutation_p.E532V	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	595	Rho-GAP.				axon guidance	cytosol				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		TTTCCTAAGGAAAGATTTAAC	0.403000													14	30					0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73544654	73544654	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr10:73544654G>T	ENST00000224721.6	+	42	5529	c.5524G>T	c.(5524-5526)Gtg>Ttg	p.V1842L		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1837	Cadherin 17.				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						CCAGATGCTGGTGGGGATCCG	0.597000													9	39					3.86212e-05	4.23813e-05	1	1	0
RAPGEFL1	51195	broad.mit.edu	37	17	38349915	38349915	+	Splice_Site	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr17:38349915G>T	ENST00000436615.3	+	15	1736		c.e15-1		RAPGEFL1_ENST00000456989.2_Splice_Site|RAPGEFL1_ENST00000544503.1_Splice_Site|RAPGEFL1_ENST00000264644.6_Splice_Site	NM_016339.3	NP_057423.1	Q9UHV5	RPGFL_HUMAN	Rap guanine nucleotide exchange factor (GEF)-like 1						G-protein coupled receptor protein signaling pathway|nervous system development|small GTPase mediated signal transduction	intracellular|membrane fraction	guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						TTACCCACTAGGCCTGGACAT	0.557000													14	56					2.32078e-09	2.86018e-09	1	1	0
OR2M2	391194	broad.mit.edu	37	1	248343685	248343685	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:248343685C>T	ENST00000359682.2	+	1	398	c.398C>T	c.(397-399)aCc>aTc	p.T133I		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	133					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)			CTAAGATATACCAATCTCATG	0.398000													89	319					0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22178156	22178156	+	Silent	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:22178156G>A	ENST00000374695.3	-	55	7120	c.7041C>T	c.(7039-7041)ccC>ccT	p.P2347P	HSPG2_ENST00000430507.1_3'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2347	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)	GCGAGGAGGAGGGCTCGATGC	0.647000													35	100					0	0	1	0	0
TCF20	6942	broad.mit.edu	37	22	42611186	42611186	+	Silent	SNP	T	T	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr22:42611186T>A	ENST00000359486.3	-	1	262	c.126A>T	c.(124-126)ggA>ggT	p.G42G	TCF20_ENST00000335626.4_Silent_p.G42G	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	42					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						cacctgtacctccaAAATTCT	0.602000													7	28					0	0	1	0	0
ZNF90	7643	broad.mit.edu	37	19	20215047	20215047	+	Splice_Site	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:20215047G>T	ENST00000418063.2	+	2	115		c.e2-1		ZNF90_ENST00000474284.1_Intron	NM_007138.1	NP_009069.1	Q03938	ZNF90_HUMAN	zinc finger protein 90							Golgi apparatus|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|lung(2)|ovary(1)|skin(1)	5						GTGTTTTTCAGGGACCATTGG	0.398000													15	114					3.32936e-07	3.88945e-07	1	1	0
DVL2	1856	broad.mit.edu	37	17	7137547	7137547	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr17:7137547C>A	ENST00000005340.5	-	1	317	c.35G>T	c.(34-36)gGg>gTg	p.G12V	DVL2_ENST00000575458.1_Missense_Mutation_p.G12V	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN	dishevelled segment polarity protein 2	12	DIX.|Poly-Gly.				canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter	cytosol|nucleus|plasma membrane	frizzled binding|identical protein binding|signal transducer activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						CTTCGTCTCCCCAACCCCACC	0.667000													34	41					2.68265e-12	3.51266e-12	1	1	0
BHLHB9	80823	broad.mit.edu	37	X	102004753	102004753	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:102004753C>T	ENST00000372735.1	+	4	1415	c.830C>T	c.(829-831)cCt>cTt	p.P277L	BHLHB9_ENST00000457056.1_Missense_Mutation_p.P277L|BHLHB9_ENST00000448867.1_Missense_Mutation_p.P277L|BHLHB9_ENST00000447531.1_Missense_Mutation_p.P277L|BHLHB9_ENST00000361229.4_Missense_Mutation_p.P277L			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	277						cytoplasm|nucleus	binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TGCTCACAGCCTATCCCTGAG	0.483000													25	79					0	0	1	0	0
ELF1	1997	broad.mit.edu	37	13	41507915	41507915	+	Silent	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr13:41507915G>T	ENST00000239882.3	-	9	1820	c.1506C>A	c.(1504-1506)gcC>gcA	p.A502A	ELF1_ENST00000498824.1_5'UTR|ELF1_ENST00000442101.1_Silent_p.A478A	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription factor)	502					positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		GCTGAACCTGGGCAGGGCCCA	0.507000													46	64					1.00776e-21	1.50593e-21	1	1	0
ESAM	90952	broad.mit.edu	37	11	124624608	124624608	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:124624608C>A	ENST00000278927.5	-	5	788	c.659G>T	c.(658-660)gGa>gTa	p.G220V	ESAM_ENST00000442070.2_Missense_Mutation_p.G41V	NM_138961.2	NP_620411.2	Q96AP7	ESAM_HUMAN	endothelial cell adhesion molecule	220	Ig-like C2-type.				blood coagulation|leukocyte migration	adherens junction|integral to membrane|tight junction				endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.022)		GACATAGACTCCAGCCATGGA	0.507000													39	220					8.69298e-16	1.21865e-15	1	1	0
HERC5	51191	broad.mit.edu	37	4	89380600	89380600	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr4:89380600A>G	ENST00000264350.3	+	2	521	c.368A>G	c.(367-369)aAc>aGc	p.N123S	HERC5_ENST00000508695.1_3'UTR	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	123					innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity			NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		GAGTATGACAACTATAGCATG	0.308000													30	72					0	0	1	0	0
CAPN7	23473	broad.mit.edu	37	3	15275390	15275390	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr3:15275390C>G	ENST00000253693.2	+	11	1449	c.1196C>G	c.(1195-1197)gCa>gGa	p.A399G		NM_014296.2	NP_055111.1	Q9Y6W3	CAN7_HUMAN	calpain 7	399	Calpain catalytic.				proteolysis	nucleus	calcium-dependent cysteine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|skin(2)	22						GATCTTCATGCACTGACTGGC	0.368000													22	52					0	0	1	0	0
GBF1	8729	broad.mit.edu	37	10	104139347	104139347	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr10:104139347C>T	ENST00000369983.3	+	35	4972	c.4712C>T	c.(4711-4713)gCa>gTa	p.A1571V		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	1571					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		CTGCAGCGAGCACTACTTGTA	0.517000													25	172					0	0	1	0	0
OR13C4	138804	broad.mit.edu	37	9	107289317	107289317	+	Silent	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr9:107289317G>T	ENST00000277216.3	-	1	173	c.174C>A	c.(172-174)ccC>ccA	p.P58P		NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C, member 4	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						AGAAGTACATGGGCATGTGAA	0.413000													11	98					5.50884e-06	6.18744e-06	1	1	0
CCDC120	90060	broad.mit.edu	37	X	48924954	48924954	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:48924954G>A	ENST00000376396.3	+	10	1418	c.1199G>A	c.(1198-1200)cGc>cAc	p.R400H	CCDC120_ENST00000422185.2_Missense_Mutation_p.R400H|CCDC120_ENST00000603986.1_Missense_Mutation_p.R435H|CCDC120_ENST00000536628.2_Missense_Mutation_p.R388H|CCDC120_ENST00000496529.2_Missense_Mutation_p.R400H|CCDC120_ENST00000597275.1_Missense_Mutation_p.R400H	NM_001271835.1|NM_001271836.1|NM_033626.2	NP_001258764.1|NP_001258765.1|NP_296375.1	Q96HB5	CC120_HUMAN	coiled-coil domain containing 120	400	Pro-rich.						protein binding			breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14						CTGTATGAGCGCCCCCAACCA	0.736000													5	15					0	0	1	0	0
PROKR2	128674	broad.mit.edu	37	20	5283044	5283044	+	Missense_Mutation	SNP	C	C	A	rs143647776		TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr20:5283044C>A	ENST00000546004.1	-	3	1043	c.797G>T	c.(796-798)cGg>cTg	p.R266L	PROKR2_ENST00000217270.3_Missense_Mutation_p.R266L			Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	266						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						GCAGCGCAGCCGCTTGCGAAT	0.612000										HNSCC(71;0.22)			28	29					1.12875e-08	1.35972e-08	1	1	0
KCNT2	343450	broad.mit.edu	37	1	196397357	196397357	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:196397357C>G	ENST00000367433.5	-	10	963	c.862G>C	c.(862-864)Gga>Cga	p.G288R	KCNT2_ENST00000451324.2_Intron|KCNT2_ENST00000294725.8_Missense_Mutation_p.G288R|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000367431.4_Missense_Mutation_p.G288R			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	288						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						TAGTTTCCTCCTGACTTTTGT	0.338000													12	72					0	0	1	0	0
TTBK1	84630	broad.mit.edu	37	6	43230705	43230705	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr6:43230705G>T	ENST00000259750.4	+	13	1686	c.1603G>T	c.(1603-1605)Gag>Tag	p.E535*	TTBK1_ENST00000304139.5_Nonsense_Mutation_p.E484*	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	535						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)			GCTGGCTGAGGAGGAGGATTT	0.642000													7	25					3.09899e-07	3.62599e-07	1	1	0
ELMOD1	55531	broad.mit.edu	37	11	107506439	107506439	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:107506439G>T	ENST00000265840.7	+	6	633	c.368G>T	c.(367-369)cGt>cTt	p.R123L	ELMOD1_ENST00000531234.1_Missense_Mutation_p.R117L|ELMOD1_ENST00000443271.2_Missense_Mutation_p.R123L	NM_018712.3	NP_061182.3	Q8N336	ELMD1_HUMAN	ELMO/CED-12 domain containing 1	123					phagocytosis	cytoskeleton	GTPase activator activity			endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1)	19		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)		GAAAAACTGCGTAGAGAGGCC	0.433000													13	69					4.3838e-07	5.10798e-07	1	1	0
RNF6	6049	broad.mit.edu	37	13	26788287	26788287	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr13:26788287C>G	ENST00000381588.4	-	5	2484	c.1732G>C	c.(1732-1734)Gtt>Ctt	p.V578L	RNF6_ENST00000468480.1_Intron|RNF6_ENST00000381570.3_Missense_Mutation_p.V578L|RNF6_ENST00000399762.2_Missense_Mutation_p.V222L|RNF6_ENST00000346166.3_Missense_Mutation_p.V578L	NM_005977.3	NP_005968.1	Q9Y252	RNF6_HUMAN	ring finger protein (C3H2C3 type) 6	578					negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process	axon|cytoplasm|PML body	androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		CCAGTTTCAACTAAATTGTTT	0.428000													15	71					0	0	1	0	0
FOXL1	2300	broad.mit.edu	37	16	86612677	86612677	+	Silent	SNP	G	G	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr16:86612677G>C	ENST00000320241.3	+	1	563	c.348G>C	c.(346-348)cgG>cgC	p.R116R		NM_005250.2	NP_005241.1	Q12952	FOXL1_HUMAN	forkhead box L1	116					brain development|camera-type eye development|cartilage development|embryo development|forelimb morphogenesis|heart development|organ morphogenesis|pattern specification process|proteoglycan biosynthetic process|regulation of sequence-specific DNA binding transcription factor activity|regulation of Wnt receptor signaling pathway|visceral mesoderm-endoderm interaction involved in midgut 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			central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(2)|prostate(3)|skin(1)|urinary_tract(1)	15						AGAAAGGGCGGCCGGGCAAGG	0.662000													48	58					0	0	1	0	0
IGSF22	283284	broad.mit.edu	37	11	18735861	18735861	+	Silent	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:18735861G>T	ENST00000513874.1	-	13	1900	c.1761C>A	c.(1759-1761)gcC>gcA	p.A587A	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859.3	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	587										NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						CCGTGCCCTTGGCCCGGAATG	0.557000													17	38					8.28177e-16	1.16245e-15	1	1	0
CASK	8573	broad.mit.edu	37	X	41524663	41524663	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:41524663T>C	ENST00000318588.9	-	7	620	c.575A>G	c.(574-576)aAa>aGa	p.K192R	CASK_ENST00000378163.1_Missense_Mutation_p.K192R|CASK_ENST00000378158.1_Missense_Mutation_p.K192R|CASK_ENST00000442742.2_Missense_Mutation_p.K192R|CASK_ENST00000378166.4_Missense_Mutation_p.K192R|CASK_ENST00000421587.2_Missense_Mutation_p.K192R|CASK_ENST00000378154.1_Missense_Mutation_p.K192R|CASK_ENST00000361962.4_Missense_Mutation_p.K192R			O14936	CSKP_HUMAN	calcium/calmodulin-dependent serine protein kinase (MAGUK family)	192	Protein kinase.				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						AGGCTCTCTTTTGACCACTTC	0.413000													3	19					0	0	1	0	0
UGT2B4	7363	broad.mit.edu	37	4	70359531	70359531	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr4:70359531C>T	ENST00000305107.6	-	2	796	c.750G>A	c.(748-750)atG>atA	p.M250I	UGT2B4_ENST00000512583.1_Missense_Mutation_p.M250I|UGT2B4_ENST00000381096.3_Missense_Mutation_p.M114I|UGT2B4_ENST00000506580.1_5'UTR	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	250					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						CAGCTTTTGCCATTGTCTCAG	0.383000													14	67					0	0	1	0	0
DVL2	1856	broad.mit.edu	37	17	7133647	7133647	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr17:7133647C>T	ENST00000005340.5	-	3	649	c.367G>A	c.(367-369)Gag>Aag	p.E123K	DVL2_ENST00000574642.1_5'UTR|DVL2_ENST00000575458.1_Missense_Mutation_p.E123K	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN	dishevelled segment polarity protein 2	123					canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter	cytosol|nucleus|plasma membrane	frizzled binding|identical protein binding|signal transducer activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						CTGGTCCTCTCGGGTGGCAAA	0.617000													17	71					0	0	1	0	0
FAM91A1	157769	broad.mit.edu	37	8	124799557	124799557	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr8:124799557G>A	ENST00000334705.7	+	13	1381	c.1135G>A	c.(1135-1137)Gca>Aca	p.A379T	FAM91A1_ENST00000521166.1_Missense_Mutation_p.A379T	NM_144963.2	NP_659400.2	Q658Y4	F91A1_HUMAN	family with sequence similarity 91, member A1	379								p.A379T(1)		breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			GAAGCGCATCGCATTCCTGTT	0.378000													14	40					0	0	1	0	0
UBE3C	9690	broad.mit.edu	37	7	156974894	156974894	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr7:156974894C>T	ENST00000348165.5	+	8	1223	c.863C>T	c.(862-864)gCg>gTg	p.A288V	UBE3C_ENST00000389103.4_Missense_Mutation_p.A245V	NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	288					protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		CTTGCAGATGCGCAGACCGTT	0.438000													18	84					0	0	1	0	0
FAM105A	54491	broad.mit.edu	37	5	14609046	14609046	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr5:14609046T>C	ENST00000274217.3	+	7	937	c.817T>C	c.(817-819)Tcc>Ccc	p.S273P		NM_019018.2	NP_061891.1	Q9NUU6	F105A_HUMAN	family with sequence similarity 105, member A	273										large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Lung NSC(4;0.00592)					ACTCCTGTTTTCCAGGGAGAC	0.413000													15	279					0	0	1	0	0
SUPT20H	55578	broad.mit.edu	37	13	37619400	37619400	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr13:37619400C>A	ENST00000360252.4	-	6	526	c.279G>T	c.(277-279)agG>agT	p.R93S	SUPT20H_ENST00000542180.1_Missense_Mutation_p.R80S|SUPT20H_ENST00000464744.1_Missense_Mutation_p.R93S|SUPT20H_ENST00000475892.1_Missense_Mutation_p.R92S|SUPT20H_ENST00000350612.6_Missense_Mutation_p.R92S|SUPT20H_ENST00000470359.2_5'UTR|SUPT20H_ENST00000356185.3_Missense_Mutation_p.R93S	NM_001278481.1|NM_001278482.1|NM_017569.3	NP_001265410.1|NP_001265411.1|NP_060039.1			suppressor of Ty 20 homolog (S. cerevisiae)																		CGTTTTTTCCCCTGAGCATCA	0.408000													7	23					0.00307968	0.00321738	1	1	0
SNAPC4	6621	broad.mit.edu	37	9	139272678	139272678	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr9:139272678G>A	ENST00000298532.2	-	21	3969	c.3601C>T	c.(3601-3603)Cct>Tct	p.P1201S		NM_003086.2	NP_003077.2	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex, polypeptide 4, 190kDa	1201	Pro-rich.				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)		CCGGACCAAGGGGGTTCTGCT	0.682000													18	8					0	0	1	0	0
RFPL4B	442247	broad.mit.edu	37	6	112671606	112671606	+	Silent	SNP	T	T	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr6:112671606T>C	ENST00000441065.2	+	3	1008	c.696T>C	c.(694-696)caT>caC	p.H232H		NM_001013734.2	NP_001013756.2	Q6ZWI9	RFPLB_HUMAN	ret finger protein-like 4B	232	B30.2/SPRY.						zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	14		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)		TCTATACACATGATGGTTTCT	0.463000													13	37					0	0	1	0	0
TDRD7	23424	broad.mit.edu	37	9	100245509	100245509	+	Missense_Mutation	SNP	C	C	T	rs146083361	byFrequency	TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr9:100245509C>T	ENST00000355295.4	+	15	3086	c.2791C>T	c.(2791-2793)Cct>Tct	p.P931S	TDRD7_ENST00000422139.2_Missense_Mutation_p.P857S|TDRD7_ENST00000540902.1_Missense_Mutation_p.P251S	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	931	Interacts with CABLES1 (By similarity).|Interacts with CDK17 (By similarity).				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)				CGTCATCCAGCCTTGGCAGGA	0.498000													12	88					0	0	1	0	0
FAM124A	220108	broad.mit.edu	37	13	51825865	51825865	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr13:51825865G>A	ENST00000322475.8	+	3	497	c.362G>A	c.(361-363)cGc>cAc	p.R121H	FAM124A_ENST00000280057.6_Missense_Mutation_p.R157H	NM_001242312.1	NP_001229241.1	Q86V42	F124A_HUMAN	family with sequence similarity 124A	121										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1)	26		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;4.25e-07)		CAGCTGCACCGCACACTGCAG	0.701000													3	8					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	177133772	177133772	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:177133772C>A	ENST00000367654.2	-	1	54	c.41G>T	c.(40-42)tGg>tTg	p.W14L	ASTN1_ENST00000361833.2_Missense_Mutation_p.W14L|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Missense_Mutation_p.W14L|ASTN1_ENST00000424564.2_Missense_Mutation_p.W14L			O14525	ASTN1_HUMAN	astrotactin 1	14					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CGCCGGCCCCCAGCAGCAGGC	0.697000													17	30					2.23348e-06	2.543e-06	1	1	0
SETDB2	83852	broad.mit.edu	37	13	50051129	50051129	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr13:50051129A>T	ENST00000354234.4	+	6	1729	c.823A>T	c.(823-825)Agc>Tgc	p.S275C	SETDB2_ENST00000317257.8_Missense_Mutation_p.S287C|SETDB2_ENST00000258672.5_Missense_Mutation_p.S275C	NM_001160308.1	NP_001153780.1	Q96T68	SETB2_HUMAN	SET domain, bifurcated 2	287					cell division|chromosome segregation|heart looping|left/right axis specification|mitosis|negative regulation of transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone methyltransferase activity (H3-K9 specific)|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	15		Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.1e-09)		CAACTTTTCCAGCATGTTTAC	0.408000													12	46					0	0	1	0	0
ATP1A1	476	broad.mit.edu	37	1	116941613	116941613	+	Silent	SNP	C	C	T	rs144039896	byFrequency	TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:116941613C>T	ENST00000537345.1	+	17	2718	c.2355C>T	c.(2353-2355)ccC>ccT	p.P785P	ATP1A1_ENST00000295598.5_Silent_p.P785P|ATP1A1_ENST00000369496.4_Silent_p.P754P	NM_001160233.1	NP_001153705.1	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	785					ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)	GTAACATTCCCGAGATCACCC	0.413000													28	76					0	0	1	0	0
MAP3K13	9175	broad.mit.edu	37	3	185146649	185146649	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr3:185146649G>T	ENST00000265026.3	+	2	614	c.280G>T	c.(280-282)Gag>Tag	p.E94*	MAP3K13_ENST00000443863.1_Intron|MAP3K13_ENST00000446828.1_Intron|MAP3K13_ENST00000424227.1_Nonsense_Mutation_p.E94*|MAP3K13_ENST00000535426.1_Intron	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase 13	94					activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			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)			CGATGAATCAGAGACGGCGGT	0.542000													14	75					2.23348e-06	2.543e-06	1	1	0
VCPKMT	79609	broad.mit.edu	37	14	50583090	50583090	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr14:50583090C>A	ENST00000395860.2	-	1	185	c.181G>T	c.(181-183)Gac>Tac	p.D61Y	METTL21D_ENST00000395859.2_Missense_Mutation_p.D61Y	NM_024558.2	NP_078834.2	Q9H867	MT21D_HUMAN		61							methyltransferase activity			kidney(1)|lung(1)|urinary_tract(1)	3						TGGGCCCCGTCGCCAGAAAAC	0.652000													24	15					1.32003e-05	1.46867e-05	1	1	0
PDGFD	80310	broad.mit.edu	37	11	103818454	103818454	+	Splice_Site	SNP	T	T	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:103818454T>C	ENST00000302251.5	-	4	944		c.e4-2		PDGFD_ENST00000393158.2_Splice_Site	NM_025208.4|NM_033135.3	NP_079484.1|NP_149126.1	Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D						positive regulation of cell division	endoplasmic reticulum lumen|extracellular region|Golgi membrane	growth factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		GAAATCTTCCTGGAAGGCAAA	0.403000													15	55					0	0	1	0	0
NFASC	23114	broad.mit.edu	37	1	204926840	204926840	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:204926840T>C	ENST00000367172.4	+	8	920	c.592T>C	c.(592-594)Tac>Cac	p.Y198H	NFASC_ENST00000403080.1_Missense_Mutation_p.Y198H|NFASC_ENST00000401399.1_Missense_Mutation_p.Y198H|NFASC_ENST00000539706.1_Missense_Mutation_p.Y192H|NFASC_ENST00000339876.6_Missense_Mutation_p.Y198H|NFASC_ENST00000360049.4_Missense_Mutation_p.Y192H|NFASC_ENST00000338515.6_Missense_Mutation_p.Y198H|NFASC_ENST00000367170.4_Missense_Mutation_p.Y198H|NFASC_ENST00000367171.4_Missense_Mutation_p.Y198H|NFASC_ENST00000513543.1_Missense_Mutation_p.Y192H|NFASC_ENST00000367169.4_Missense_Mutation_p.Y198H|NFASC_ENST00000404907.1_Missense_Mutation_p.Y192H|NFASC_ENST00000338586.6_Missense_Mutation_p.Y198H|NFASC_ENST00000404076.1_Missense_Mutation_p.Y192H			O94856	NFASC_HUMAN	neurofascin	198	Ig-like C2-type 2.				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)			CGGAGACCTATACTTCTCCAA	0.512000													27	75					0	0	1	0	0
SASH3	54440	broad.mit.edu	37	X	128926649	128926649	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:128926649G>T	ENST00000356892.3	+	6	752	c.638G>T	c.(637-639)tGg>tTg	p.W213L		NM_018990.3	NP_061863.1	O75995	SASH3_HUMAN	SAM and SH3 domain containing 3	213	SH3.									breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	12						GTGGGCACGTGGCTGGGCCTA	0.597000													25	66					5.77227e-19	8.38549e-19	1	1	0
SUN3	256979	broad.mit.edu	37	7	48033935	48033935	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr7:48033935C>A	ENST00000453192.2	-	9	1045	c.802G>T	c.(802-804)Gca>Tca	p.A268S	SUN3_ENST00000297325.4_Missense_Mutation_p.A280S|SUN3_ENST00000412142.1_Missense_Mutation_p.A180S|SUN3_ENST00000395572.2_Missense_Mutation_p.A280S|SUN3_ENST00000473723.1_5'UTR			Q8TAQ9	SUN3_HUMAN	Sad1 and UNC84 domain containing 3	280	SUN.					integral to membrane				central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TCCTTGGGTGCACTGGAGATG	0.453000													48	70					6.87076e-12	8.95995e-12	1	1	0
PREB	10113	broad.mit.edu	37	2	27356445	27356445	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr2:27356445G>A	ENST00000260643.2	-	2	533	c.280C>T	c.(280-282)Cgc>Tgc	p.R94C	PREB_ENST00000416802.1_Intron|PREB_ENST00000406567.3_Missense_Mutation_p.R94C	NM_013388.4	NP_037520.1	Q9HCU5	PREB_HUMAN	prolactin regulatory element binding	94					COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|nucleus	DNA binding|guanyl-nucleotide exchange factor activity|protein binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCTGGAAGCGCAGGAGCTGA	0.592000													5	24					0	0	1	0	0
PAK4	10298	broad.mit.edu	37	19	39664005	39664005	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:39664005C>T	ENST00000593690.1	+	5	1079	c.652C>T	c.(652-654)Cgg>Tgg	p.R218W	PAK4_ENST00000435673.2_Missense_Mutation_p.R218W|PAK4_ENST00000358301.3_Missense_Mutation_p.R218W|PAK4_ENST00000599470.1_Intron|PAK4_ENST00000599386.1_Intron|PAK4_ENST00000321944.4_Intron|PAK4_ENST00000360442.3_Missense_Mutation_p.R218W	NM_001014831.2	NP_001014831.1	O96013	PAK4_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 4	218	Linker.				cellular component movement|signal transduction	Golgi apparatus	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	13	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)			CCACCCATCCCGGGGTGCCCA	0.706000													4	21					0	0	1	0	0
STOX2	56977	broad.mit.edu	37	4	184931701	184931701	+	Silent	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr4:184931701C>T	ENST00000308497.4	+	3	3145	c.1710C>T	c.(1708-1710)tgC>tgT	p.C570C	STOX2_ENST00000438269.1_Silent_p.C570C	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	570					embryo development|maternal placenta development					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		CCAGCGCTTGCAGCCTTTTGG	0.493000													17	26					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176762729	176762729	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:176762729C>A	ENST00000367662.3	+	20	6218	c.5054C>A	c.(5053-5055)cCc>cAc	p.P1685H		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1685	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						GTAATCCCCCCCAGTGACCCC	0.468000													11	109					1.08611e-07	1.28488e-07	1	1	0
FOXB2	442425	broad.mit.edu	37	9	79635203	79635203	+	Silent	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr9:79635203G>A	ENST00000376708.1	+	1	633	c.633G>A	c.(631-633)ccG>ccA	p.P211P		NM_001013735.1	NP_001013757.1	Q5VYV0	FOXB2_HUMAN	forkhead box B2	211					brain development|embryo 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|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)|lung(8)|ovary(1)	10						CTCAGCAGCCGTCTCACCCCG	0.736000													5	24					0	0	1	0	0
ZNF354C	30832	broad.mit.edu	37	5	178489073	178489073	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr5:178489073G>A	ENST00000315475.6	+	2	310	c.4G>A	c.(4-6)Gct>Act	p.A2T		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	2					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		GGAAGGGATGGCTGTGGATCT	0.527000													7	70					0	0	1	0	0
REPS1	85021	broad.mit.edu	37	6	139229850	139229850	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr6:139229850G>A	ENST00000450536.2	-	18	2745	c.2171C>T	c.(2170-2172)aCg>aTg	p.T724M	REPS1_ENST00000367663.4_Missense_Mutation_p.T697M|REPS1_ENST00000409812.2_Missense_Mutation_p.T633M|REPS1_ENST00000415951.2_Missense_Mutation_p.T665M|REPS1_ENST00000258062.5_Missense_Mutation_p.T723M			Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	724	Interaction with RALBP1 (By similarity).					coated pit|plasma membrane	calcium ion binding|SH3 domain binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		TAAGACACCCGTCTTTTGTGT	0.398000													38	33					0	0	1	0	0
SLC24A1	9187	broad.mit.edu	37	15	65946270	65946270	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr15:65946270G>C	ENST00000261892.6	+	10	3440	c.3153G>C	c.(3151-3153)atG>atC	p.M1051I	SLC24A1_ENST00000449142.2_3'UTR|SLC24A1_ENST00000546330.1_Missense_Mutation_p.M1033I|SLC24A1_ENST00000537259.1_Intron|SLC24A1_ENST00000544319.2_Missense_Mutation_p.M937I|SLC24A1_ENST00000399033.4_Missense_Mutation_p.M1021I|SLC24A1_ENST00000339868.6_Missense_Mutation_p.M1033I	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 1	1051					response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						TTTTTCTCATGCTTCTGTTTG	0.398000													19	99					0	0	1	0	0
ZNF518A	9849	broad.mit.edu	37	10	97915953	97915953	+	RNA	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr10:97915953G>T	ENST00000534948.1	+	0	731							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		TTTAATTTTAGGTGAGTTATT	0.279000													5	12					0.014758	0.0151151	1	1	0
ZNF750	79755	broad.mit.edu	37	17	80788197	80788197	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr17:80788197G>C	ENST00000269394.3	-	3	2826	c.1993C>G	c.(1993-1995)Caa>Gaa	p.Q665E	TBCD_ENST00000539345.2_Intron|TBCD_ENST00000397466.2_Intron|ZNF750_ENST00000572562.1_Missense_Mutation_p.Q266E|TBCD_ENST00000355528.4_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	665						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)			GGTGTGTCTTGCCGGCAGGCA	0.632000													66	59					0	0	1	0	0
EIF2AK1	27102	broad.mit.edu	37	7	6085729	6085729	+	Silent	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr7:6085729C>T	ENST00000199389.6	-	6	749	c.603G>A	c.(601-603)aaG>aaA	p.K201K	EIF2AK1_ENST00000495565.1_5'UTR|EIF2AK1_ENST00000536084.1_Silent_p.K77K	NM_001134335.1|NM_014413.3	NP_001127807.1|NP_055228.2	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 1	201	Protein kinase.				negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress	cytoplasm	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	27		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		TAGTTGCACCCTTAATCAGGA	0.249000													4	12					0	0	1	0	0
CCDC94	55702	broad.mit.edu	37	19	4258387	4258387	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:4258387G>T	ENST00000262962.7	+	5	622	c.554G>T	c.(553-555)aGg>aTg	p.R185M		NM_018074.4	NP_060544.2	Q9BW85	CCD94_HUMAN	coiled-coil domain containing 94	185										NS(1)|endometrium(1)|lung(2)|ovary(1)|stomach(2)	7				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0348)|STAD - Stomach adenocarcinoma(1328;0.183)		GAGCGGCGGAGGCAGCAGCAG	0.697000													4	8					0.184627	0.185704	1	1	0
RYR1	6261	broad.mit.edu	37	19	38948884	38948884	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:38948884G>A	ENST00000355481.4	+	18	2250	c.2119G>A	c.(2119-2121)Ggc>Agc	p.G707S	RYR1_ENST00000360985.3_Missense_Mutation_p.G707S|RYR1_ENST00000359596.3_Missense_Mutation_p.G707S	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	707	B30.2/SPRY 1.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|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)	CAACGGGGTCGGCGATGACCT	0.657000													38	134					0	0	1	0	0
PDGFRA	5156	broad.mit.edu	37	4	55133807	55133807	+	Silent	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr4:55133807G>T	ENST00000257290.5	+	7	1351	c.1020G>T	c.(1018-1020)cgG>cgT	p.R340R	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	340	Ig-like C2-type 4.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|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)	TAGAGGTGCGGGCCTACCCAC	0.438000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			12	42					5.50884e-06	6.18744e-06	1	1	0
PPM1N	147699	broad.mit.edu	37	19	46002352	46002352	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:46002352C>T	ENST00000324688.4	+	1	488	c.388C>T	c.(388-390)Cgc>Tgc	p.R130C	PPM1N_ENST00000456399.2_Intron|PPM1N_ENST00000401705.1_Intron|PPM1N_ENST00000396737.2_Intron|PPM1N_ENST00000451287.2_Missense_Mutation_p.R208C			Q8N819	PPM1N_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1N (putative)	208	PP2C-like.						magnesium ion binding|manganese ion binding|phosphoprotein phosphatase activity			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)	9						ACCCCGGGAACGCGAGCGCAT	0.721000													7	14					0	0	1	0	0
FOXC2	2303	broad.mit.edu	37	16	86601093	86601093	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr16:86601093G>T	ENST00000320354.4	+	1	237	c.152G>T	c.(151-153)gGg>gTg	p.G51V	RP11-463O9.5_ENST00000563280.1_RNA	NM_005251.2	NP_005242.1	Q99958	FOXC2_HUMAN	forkhead box C2 (MFH-1, mesenchyme forkhead 1)	51					anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|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 factor binding|transcription regulatory region DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						TACAGCGCGGGGATGGGCCGC	0.677000									Late-onset Hereditary Lymphedema				13	22					7.03913e-09	8.50688e-09	1	1	0
MUC17	140453	broad.mit.edu	37	7	100683692	100683692	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr7:100683692G>T	ENST00000306151.4	+	3	9059	c.8995G>T	c.(8995-8997)Gtg>Ttg	p.V2999L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2999	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)					CACCATGCCGGTGGCCAGTTC	0.502000													233	264					4.88213e-118	7.97568e-118	1	1	0
FAHD2B	151313	broad.mit.edu	37	2	97751935	97751935	+	Splice_Site	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr2:97751935C>A	ENST00000414820.1	-	5	733	c.462_splice	c.e5-1	p.E155_splice	FAHD2B_ENST00000440566.2_Splice_Site_p.E155_splice|FAHD2B_ENST00000272610.3_Splice_Site_p.E155_splice			Q6P2I3	FAH2B_HUMAN	fumarylacetoacetate hydrolase domain containing 2B	155							hydrolase activity|metal ion binding			kidney(5)|large_intestine(2)|lung(3)|skin(2)	12						CAATCTACCTCCTGTAGGGTG	0.567000													7	17					0.00448238	0.00467627	1	1	0
NPAS3	64067	broad.mit.edu	37	14	34145460	34145460	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr14:34145460G>T	ENST00000346562.2	+	5	580	c.506G>T	c.(505-507)gGa>gTa	p.G169V	NPAS3_ENST00000551492.1_Missense_Mutation_p.G206V|NPAS3_ENST00000548645.1_Missense_Mutation_p.G171V|NPAS3_ENST00000357798.5_Missense_Mutation_p.G188V|NPAS3_ENST00000341321.4_Missense_Mutation_p.G201V|NPAS3_ENST00000551008.1_Missense_Mutation_p.G99V|NPAS3_ENST00000356141.4_Missense_Mutation_p.G201V|NPAS3_ENST00000547068.1_Missense_Mutation_p.G97V	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	201	PAS 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		GTCCACCCCGGAGATCACGTG	0.577000													26	51					1.77063e-15	2.46832e-15	1	1	0
LILRA6	79168	broad.mit.edu	37	19	54744761	54744761	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:54744761T>C	ENST00000440558.2	-	5	949	c.901A>G	c.(901-903)Aac>Gac	p.N301D	LILRA6_ENST00000419410.2_Missense_Mutation_p.N301D|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000245621.5_Missense_Mutation_p.N301D|LILRA6_ENST00000396365.2_Missense_Mutation_p.N301D|LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000391735.3_3'UTR					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6											central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GAGGAGAGGTTGTGTGCACCA	0.682000													20	134					0	0	1	0	0
OGN	4969	broad.mit.edu	37	9	95152234	95152234	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr9:95152234G>T	ENST00000262551.4	-	5	952	c.532C>A	c.(532-534)Caa>Aaa	p.Q178K	OGN_ENST00000375561.5_Missense_Mutation_p.Q178K|CENPP_ENST00000375587.3_Intron|OGN_ENST00000468743.1_5'UTR	NM_033014.2	NP_148935.1	P20774	MIME_HUMAN	osteoglycin	178						extracellular space|proteinaceous extracellular matrix	growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	13						TTTAGTAGTTGATTTTCAGCA	0.323000													17	38					4.14922e-12	5.42032e-12	1	1	0
CLEC16A	23274	broad.mit.edu	37	16	11114171	11114171	+	Silent	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr16:11114171G>A	ENST00000409790.1	+	12	1655	c.1425G>A	c.(1423-1425)acG>acA	p.T475T	CLEC16A_ENST00000409552.3_Silent_p.T457T	NM_015226.2	NP_056041.1	Q2KHT3	CL16A_HUMAN	C-type lectin domain family 16, member A	475								p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CTGAGAGCACGCAATGGAGCA	0.637000													10	18					0	0	1	0	0
OR5AP2	338675	broad.mit.edu	37	11	56409692	56409692	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:56409692A>G	ENST00000544374.1	-	1	255	c.227T>C	c.(226-228)gTa>gCa	p.V76A	OR5AP2_ENST00000302981.1_Missense_Mutation_p.V75A			Q8NGF4	O5AP2_HUMAN	olfactory receptor, family 5, subfamily AP, member 2	75					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						AGAGGCATCTACAAAAGAGAG	0.448000													17	42					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152623052	152623052	+	Silent	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr6:152623052C>A	ENST00000367255.5	-	92	18094	c.17493G>T	c.(17491-17493)ctG>ctT	p.L5831L	SYNE1_ENST00000448038.1_Silent_p.L5760L|SYNE1_ENST00000341594.5_Silent_p.L5443L|SYNE1_ENST00000265368.4_Silent_p.L5831L|SYNE1_ENST00000423061.1_Silent_p.L5760L|SYNE1_ENST00000356820.4_Silent_p.L355L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5831					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	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)		GCTCCCCATCCAGGTCCTCTG	0.622000										HNSCC(10;0.0054)			12	23					5.16669e-11	6.62222e-11	1	1	0
INSR	3643	broad.mit.edu	37	19	7267435	7267435	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:7267435C>A	ENST00000341500.5	-	2	612	c.573G>T	c.(571-573)aaG>aaT	p.K191N	INSR_ENST00000302850.5_Missense_Mutation_p.K191N	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN	insulin receptor	191	Cys-rich.				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|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|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|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding	p.K191K(2)		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)	TGGTCTTGCCCTTCGCGGTAC	0.542000													19	53					3.99206e-14	5.43007e-14	1	1	0
SLC6A17	388662	broad.mit.edu	37	1	110734625	110734625	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:110734625G>A	ENST00000331565.4	+	7	1381	c.896G>A	c.(895-897)cGg>cAg	p.R299Q		NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	299					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)		CAGGTGTGGCGGGAGGCAGCT	0.537000													17	61					0	0	1	0	0
GPATCH2	55105	broad.mit.edu	37	1	217793634	217793634	+	Silent	SNP	T	T	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:217793634T>C	ENST00000366935.3	-	2	374	c.264A>G	c.(262-264)ttA>ttG	p.L88L	GPATCH2_ENST00000366934.3_Silent_p.L88L	NM_018040.2	NP_060510.1	Q9NW75	GPTC2_HUMAN	G patch domain containing 2	88						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)		AGCCTTCACTTAAGCAGTGAC	0.428000													11	70					0	0	1	0	0
KCNT2	343450	broad.mit.edu	37	1	196434518	196434518	+	Splice_Site	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:196434518C>A	ENST00000367433.5	-	8	645		c.e8-1		KCNT2_ENST00000451324.2_Splice_Site|KCNT2_ENST00000294725.8_Splice_Site|KCNT2_ENST00000367431.4_Splice_Site			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2							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						GTAGATCATTCTAAAATAATA	0.294000													4	90					0.00909568	0.00937143	1	1	0
CD163	9332	broad.mit.edu	37	12	7639979	7639979	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr12:7639979G>C	ENST00000359156.4	-	8	2228	c.2026C>G	c.(2026-2028)Caa>Gaa	p.Q676E	CD163_ENST00000432237.2_Missense_Mutation_p.Q676E|CD163_ENST00000541972.1_Missense_Mutation_p.Q664E|CD163_ENST00000396620.3_Missense_Mutation_p.Q709E	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	676	SRCR 6.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						GAGGCCACTTGCTCTGAAGGA	0.483000													11	43					0	0	1	0	0
PNLIP	5406	broad.mit.edu	37	10	118307992	118307992	+	Nonsense_Mutation	SNP	A	A	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr10:118307992A>T	ENST00000369221.2	+	4	350	c.322A>T	c.(322-324)Aag>Tag	p.K108*	PNLIP_ENST00000470562.1_3'UTR	NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	108					lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Bentiromide(DB00522)|Orlistat(DB01083)	CAATGTGTGCAAGGTGAGATG	0.438000													31	96					0	0	1	0	0
DLAT	1737	broad.mit.edu	37	11	111899574	111899574	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:111899574C>A	ENST00000280346.6	+	4	1224	c.565C>A	c.(565-567)Cca>Aca	p.P189T	DLAT_ENST00000393051.1_Missense_Mutation_p.P189T|DLAT_ENST00000537636.1_Intron	NM_001931.4	NP_001922.2	P10515	ODP2_HUMAN	dihydrolipoamide S-acetyltransferase	189					glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial pyruvate dehydrogenase complex	dihydrolipoyllysine-residue acetyltransferase activity|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)	22		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)	NADH(DB00157)	AGCACCTACCCCACAAGCGGC	0.512000													11	168					0.000673444	0.000712181	1	1	0
PKD1	5310	broad.mit.edu	37	16	2155885	2155885	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr16:2155885A>G	ENST00000262304.4	-	20	8052	c.7844T>C	c.(7843-7845)cTg>cCg	p.L2615P	PKD1_ENST00000423118.1_Missense_Mutation_p.L2615P|PKD1_ENST00000561991.1_5'UTR	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2615	REJ.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CACGGTGACCAGGGCCAACGA	0.647000													7	53					0	0	1	0	0
OR1J2	26740	broad.mit.edu	37	9	125273653	125273653	+	Missense_Mutation	SNP	T	T	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr9:125273653T>G	ENST00000335302.5	+	1	573	c.573T>G	c.(571-573)gaT>gaG	p.D191E		NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J, member 2	191					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						CCTGCTCAGATATCTTCCTCA	0.532000													38	59					0	0	1	0	0
ADCK3	56997	broad.mit.edu	37	1	227170666	227170666	+	Silent	SNP	C	C	T	rs36006006		TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:227170666C>T	ENST00000366779.1	+	13	3782	c.1011C>T	c.(1009-1011)gcC>gcT	p.A337A	ADCK3_ENST00000478406.1_3'UTR|ADCK3_ENST00000458507.2_Silent_p.A58A|ADCK3_ENST00000366776.1_Silent_p.A262A|ADCK3_ENST00000433743.2_Intron|ADCK3_ENST00000366777.3_Silent_p.A337A|ADCK3_ENST00000366775.1_Silent_p.A182A|ADCK3_ENST00000366778.1_Silent_p.A285A			Q8NI60	ADCK3_HUMAN	aarF domain containing kinase 3	337	Protein kinase.				cell death	mitochondrion	ATP binding|protein serine/threonine kinase activity			endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						GGCCCTTCGCCGCCGCATCCA	0.642000													4	10					0	0	1	0	0
PTGER2	5732	broad.mit.edu	37	14	52782049	52782049	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr14:52782049C>A	ENST00000245457.5	+	1	937	c.783C>A	c.(781-783)gaC>gaA	p.D261E	PTGER2_ENST00000557436.1_Missense_Mutation_p.D6E	NM_000956.3	NP_000947.2	P43116	PE2R2_HUMAN	prostaglandin E receptor 2 (subtype EP2), 53kDa	261						integral to plasma membrane	prostaglandin E receptor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(41;0.0639)|all_epithelial(31;0.0729)				Alprostadil(DB00770)|Iloprost(DB01088)	AGGAGACGGACCACCTCATTC	0.652000													15	25					0.0285812	0.0291929	1	1	0
PTPRM	5797	broad.mit.edu	37	18	8085781	8085781	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr18:8085781C>T	ENST00000332175.8	+	10	2701	c.1664C>T	c.(1663-1665)cCg>cTg	p.P555L	PTPRM_ENST00000400053.4_Missense_Mutation_p.P493L|PTPRM_ENST00000400060.4_Missense_Mutation_p.P555L|PTPRM_ENST00000578571.1_3'UTR|PTPRM_ENST00000580170.1_Missense_Mutation_p.P555L|PTPRM_ENST00000444013.1_Missense_Mutation_p.P342L	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	555	Fibronectin type-III 3.				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)				GGACTGTATCCGGGGACCACA	0.443000													11	71					0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1086417	1086417	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:1086417C>A	ENST00000441003.2	+	23	3153	c.3126C>A	c.(3124-3126)caC>caA	p.H1042Q	MUC2_ENST00000359061.5_Missense_Mutation_p.H1042Q	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	1042	VWFD 3.					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)	TGAACCCGCACCGCCGCTCCT	0.652000													4	9					0.000602214	0.000639568	1	1	0
RGS18	64407	broad.mit.edu	37	1	192129557	192129557	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:192129557C>T	ENST00000367460.3	+	3	452	c.271C>T	c.(271-273)Ctt>Ttt	p.L91F	RGS18_ENST00000481707.1_3'UTR	NM_130782.2	NP_570138.1	Q9NS28	RGS18_HUMAN	regulator of G-protein signaling 18	91	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TGACAAACTGCTTTCCCATAG	0.368000													6	42					0	0	1	0	0
CCDC74B	91409	broad.mit.edu	37	2	130900779	130900779	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr2:130900779T>C	ENST00000409234.3	-	2	444	c.358A>G	c.(358-360)Act>Gct	p.T120A	CCDC74B_ENST00000409128.1_Intron|CCDC74B_ENST00000310463.6_Intron|CCDC74B_ENST00000409943.3_Intron|CCDC74B_ENST00000392984.3_5'UTR			Q96LY2	CC74B_HUMAN	coiled-coil domain containing 74B	264										endometrium(2)|large_intestine(1)|lung(3)	6	Colorectal(110;0.1)					GCAAGGACAGTCTGGAGGGGC	0.582000													9	27					0	0	1	0	0
MYO1G	64005	broad.mit.edu	37	7	45015169	45015169	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr7:45015169T>A	ENST00000258787.7	-	4	614	c.478A>T	c.(478-480)Agc>Tgc	p.S160C		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	160	Myosin head-like.					myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						CCAAAGCGGCTGGAGTTGTGA	0.592000													14	23					0	0	1	0	0
CSPG4	1464	broad.mit.edu	37	15	75982102	75982102	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr15:75982102C>A	ENST00000308508.5	-	3	1396	c.1304G>T	c.(1303-1305)aGc>aTc	p.S435I		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	435	Globular or compact configuration stabilized by disulfide bonds.|Neurite growth inhibition (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						CACCAGTGGGCTGATAGTCAG	0.647000													6	77					3.09899e-07	3.62599e-07	1	1	0
MCF2L2	23101	broad.mit.edu	37	3	183059375	183059375	+	Silent	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr3:183059375G>T	ENST00000328913.3	-	4	616	c.319C>A	c.(319-321)Cga>Aga	p.R107R	MCF2L2_ENST00000447025.2_Silent_p.R107R|MCF2L2_ENST00000473233.1_Silent_p.R107R|MCF2L2_ENST00000414362.2_Silent_p.R107R	NM_015078.2	NP_055893.2	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	107	CRAL-TRIO.				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)			TTGTCTCTTCGTCTGTCGATA	0.413000													17	46					4.7546e-09	5.78967e-09	1	1	0
ATP1A2	477	broad.mit.edu	37	1	160097563	160097563	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:160097563G>A	ENST00000361216.3	+	8	1059	c.970G>A	c.(970-972)Ggc>Agc	p.G324S	ATP1A2_ENST00000472488.1_3'UTR|ATP1A2_ENST00000392233.3_Missense_Mutation_p.G324S	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	324					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)			CTTCCTCATCGGCATCATAGT	0.597000													21	169					0	0	1	0	0
STPG2	285555	broad.mit.edu	37	4	98480250	98480250	+	Nonsense_Mutation	SNP	T	T	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr4:98480250T>A	ENST00000295268.3	-	11	1428	c.1339A>T	c.(1339-1341)Aaa>Taa	p.K447*	RP11-681L8.1_ENST00000518105.1_RNA|STPG2_ENST00000506482.1_Intron	NM_174952.2	NP_777612.1			sperm-tail PG-rich repeat containing 2																		AGATTTCCTTTCTTTTTCTCC	0.274000													17	64					0	0	1	0	0
SPATA31E1	286234	broad.mit.edu	37	9	90500685	90500685	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr9:90500685T>C	ENST00000325643.5	+	4	1349	c.1283T>C	c.(1282-1284)gTg>gCg	p.V428A		NM_178828.4	NP_849150.3			SPATA31 subfamily E, member 1																		GCCACAACCGTGGGGAACCAC	0.577000													65	121					0	0	1	0	0
FCGRT	2217	broad.mit.edu	37	19	50027791	50027791	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:50027791G>T	ENST00000221466.5	+	5	1115	c.629G>T	c.(628-630)cGa>cTa	p.R210L	FCGRT_ENST00000596975.1_Missense_Mutation_p.R118L|FCGRT_ENST00000594823.1_3'UTR|FCGRT_ENST00000426395.3_Missense_Mutation_p.R210L|FCGRT_ENST00000599988.1_Intron	NM_001136019.2	NP_001129491.1	P55899	FCGRN_HUMAN	Fc fragment of IgG, receptor, transporter, alpha	210	Alpha-3.				antigen processing and presentation|female pregnancy|immune response	integral to membrane|MHC class I protein complex	IgG binding|receptor activity			endometrium(3)|kidney(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	9		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00291)|GBM - Glioblastoma multiforme(134;0.0156)		CTGAAGGCCCGACCCAGCAGC	0.647000													28	62					1.88708e-17	2.70462e-17	1	1	0
KCNH5	27133	broad.mit.edu	37	14	63447966	63447966	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr14:63447966G>T	ENST00000322893.7	-	6	834	c.566C>A	c.(565-567)tCa>tAa	p.S189*	KCNH5_ENST00000394968.1_Nonsense_Mutation_p.S131*|KCNH5_ENST00000394964.2_Nonsense_Mutation_p.S131*|KCNH5_ENST00000420622.2_Nonsense_Mutation_p.S189*	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	189					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		AAGGATATCTGATCCCAGCTG	0.373000													15	43					0.000422831	0.000451839	1	1	0
MYLK	4638	broad.mit.edu	37	3	123512631	123512631	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr3:123512631C>T	ENST00000360772.3	-	5	436	c.58G>A	c.(58-60)Gat>Aat	p.D20N	MYLK_ENST00000359169.1_Missense_Mutation_p.D20N|MYLK_ENST00000475616.1_Missense_Mutation_p.D20N|MYLK_ENST00000360304.3_Missense_Mutation_p.D20N|MYLK_ENST00000346322.5_Missense_Mutation_p.D20N			Q15746	MYLK_HUMAN	myosin light chain kinase	20					aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP 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)		CTTGAGGGATCCACACTGAGG	0.532000													15	47					0	0	1	0	0
DLG2	1740	broad.mit.edu	37	11	83676388	83676388	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:83676388C>A	ENST00000398309.2	-	8	1335	c.865G>T	c.(865-867)Ggt>Tgt	p.G289C	DLG2_ENST00000543673.1_Missense_Mutation_p.G394C|DLG2_ENST00000537455.1_Missense_Mutation_p.G43C|DLG2_ENST00000376104.2_Missense_Mutation_p.G394C|DLG2_ENST00000398301.2_Missense_Mutation_p.G328C|DLG2_ENST00000524982.1_Missense_Mutation_p.G289C|DLG2_ENST00000376106.3_5'UTR|DLG2_ENST00000280241.8_Missense_Mutation_p.G328C|DLG2_ENST00000418306.2_Missense_Mutation_p.G238C|DLG2_ENST00000532653.1_Missense_Mutation_p.G289C|DLG2_ENST00000330014.6_Missense_Mutation_p.G228C|DLG2_ENST00000531015.1_Missense_Mutation_p.G256C	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	289						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TCAGGTGGACCATAAGGATCA	0.368000													23	106					2.39556e-15	3.32503e-15	1	1	0
OTOP1	133060	broad.mit.edu	37	4	4199545	4199545	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr4:4199545G>T	ENST00000296358.4	-	5	1040	c.1016C>A	c.(1015-1017)tCc>tAc	p.S339Y		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	339					biomineral tissue development	extracellular space|integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CTTGGTCTTGGAGCGCCCAAT	0.577000													19	45					1.55795e-14	2.13078e-14	1	1	0
IGSF10	285313	broad.mit.edu	37	3	151161336	151161336	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr3:151161336G>A	ENST00000282466.3	-	5	5398	c.5399C>T	c.(5398-5400)aCg>aTg	p.T1800M		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1800	Ig-like C2-type 4.				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)			TCCGTCAACCGTCACCACAGC	0.507000													17	40					0	0	1	0	0
GSE1	23199	broad.mit.edu	37	16	85689989	85689989	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr16:85689989G>A	ENST00000253458.7	+	7	1206	c.1030G>A	c.(1030-1032)Gag>Aag	p.E344K	GSE1_ENST00000405402.2_Missense_Mutation_p.E240K|GSE1_ENST00000393243.1_Missense_Mutation_p.E271K	NM_014615.2	NP_055430.1			Gse1 coiled-coil protein																		gagggagcgcgagcgcgagcg	0.657000													9	11					0	0	1	0	0
ZNF428	126299	broad.mit.edu	37	19	44112128	44112128	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:44112128G>A	ENST00000300811.3	-	3	654	c.208C>T	c.(208-210)Cgc>Tgc	p.R70C	SRRM5_ENST00000607544.1_Intron|SRRM5_ENST00000526798.1_Intron	NM_182498.3	NP_872304.2	Q96B54	ZN428_HUMAN	zinc finger protein 428	70	Glu-rich.					intracellular	zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	5		Prostate(69;0.0153)				CCGCCAAGGCGCTGCTTCACC	0.662000													3	11					0	0	1	0	0
AKNA	80709	broad.mit.edu	37	9	117103959	117103959	+	Silent	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr9:117103959G>A	ENST00000307564.4	-	21	4082	c.3921C>T	c.(3919-3921)agC>agT	p.S1307S	AKNA_ENST00000374079.4_Silent_p.S252S|AKNA_ENST00000374075.5_Silent_p.S1226S|AKNA_ENST00000374088.3_Silent_p.S1307S|AKNA_ENST00000492875.1_5'UTR|AKNA_ENST00000223791.3_Silent_p.S767S	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	1307					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						TCTGCTTGGGGCTGGGAGTTG	0.627000													10	82					0	0	1	0	0
FBXL13	222235	broad.mit.edu	37	7	102604004	102604004	+	Silent	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr7:102604004G>T	ENST00000393772.2	-	8	1126	c.700C>A	c.(700-702)Cga>Aga	p.R234R	FBXL13_ENST00000313221.4_Silent_p.R234R|FBXL13_ENST00000456695.1_Silent_p.R234R|FBXL13_ENST00000455112.2_Silent_p.R234R|FBXL13_ENST00000436908.1_Silent_p.R234R|FBXL13_ENST00000471074.1_5'UTR|FBXL13_ENST00000379306.3_Silent_p.R234R|FBXL13_ENST00000379305.3_Silent_p.R234R|FBXL13_ENST00000379308.3_Silent_p.R234R			Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	234										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						GTTTTGGGTCGGAGAAGACAA	0.338000													6	62					2.7689e-08	3.31942e-08	1	1	0
PLXNB1	5364	broad.mit.edu	37	3	48454014	48454014	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr3:48454014C>A	ENST00000358536.4	-	26	5139	c.4870G>T	c.(4870-4872)Gag>Tag	p.E1624*	PLXNB1_ENST00000296440.6_Nonsense_Mutation_p.E1624*|PLXNB1_ENST00000456774.1_Nonsense_Mutation_p.E1441*|PLXNB1_ENST00000358459.4_Nonsense_Mutation_p.E1441*|PLXNB1_ENST00000448774.2_Nonsense_Mutation_p.E235*	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	1624					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)		CGCTGGCTCTCCAGCGTGTGG	0.592000													20	19					1.2644e-06	1.45829e-06	1	1	0
NFATC1	4772	broad.mit.edu	37	18	77246411	77246411	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr18:77246411G>A	ENST00000253506.5	+	9	2625	c.2256G>A	c.(2254-2256)ccG>ccA	p.752_752insP	NFATC1_ENST00000397790.2_Missense_Mutation_p.280_280insP|NFATC1_ENST00000318065.5_Missense_Mutation_p.739_739insP|NFATC1_ENST00000427363.2_Silent_p.P752P|NFATC1_ENST00000542384.1_Intron|NFATC1_ENST00000545796.1_Silent_p.P280P|NFATC1_ENST00000329101.4_Silent_p.P739P|NFATC1_ENST00000586434.1_Intron	NM_006162.3	NP_006153.2	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	0	Trans-activation domain B (TAD-B).				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)		CGCCCTGTCCGCAGAGAAGCA	0.677000													48	132					0	0	1	0	0
KIF2B	84643	broad.mit.edu	37	17	51901000	51901000	+	Silent	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr17:51901000G>A	ENST00000268919.4	+	1	762	c.606G>A	c.(604-606)aaG>aaA	p.K202K		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	202					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						ACAGCAGCAAGATCTCAGTCC	0.542000													21	52					0	0	1	0	0
ITGAM	3684	broad.mit.edu	37	16	31332665	31332665	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr16:31332665G>T	ENST00000544665.3	+	15	1885	c.1814G>T	c.(1813-1815)gGa>gTa	p.G605V	ITGAM_ENST00000287497.8_Missense_Mutation_p.G604V	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	604					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CTGACTGTAGGAGCCCAGGGG	0.547000													52	136					4.01344e-20	5.92246e-20	1	1	0
FAM53A	152877	broad.mit.edu	37	4	1643057	1643057	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr4:1643057C>A	ENST00000308132.6	-	5	1352	c.1160G>T	c.(1159-1161)cGc>cTc	p.R387L	FAM53A_ENST00000461064.1_Missense_Mutation_p.R387L|FAM53A_ENST00000472884.2_Missense_Mutation_p.R387L|FAM53A_ENST00000489363.1_3'UTR	NM_001174070.1	NP_001167541.1	Q6NSI3	FA53A_HUMAN	family with sequence similarity 53, member A	387						nucleus				breast(2)|central_nervous_system(2)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10		all_epithelial(65;0.206)|Breast(71;0.212)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)			CAGCTCCCAGCGGGCCCGGGG	0.701000													23	45					1.10923e-09	1.37307e-09	1	1	0
RGS12	6002	broad.mit.edu	37	4	3419262	3419262	+	Missense_Mutation	SNP	G	G	A	rs138449809		TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr4:3419262G>A	ENST00000336727.3	+	9	3659	c.2755G>A	c.(2755-2757)Gca>Aca	p.A919T	RGS12_ENST00000382788.3_Missense_Mutation_p.A919T|RGS12_ENST00000344733.5_Missense_Mutation_p.A919T|RGS12_ENST00000508158.1_3'UTR|RGS12_ENST00000338806.4_Missense_Mutation_p.A271T|RGS12_ENST00000538395.1_Missense_Mutation_p.A261T|RGS12_ENST00000306648.7_Missense_Mutation_p.A317T	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	919						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)		CGGGGACCACGCAGACGGTTT	0.662000													10	66					0	0	1	0	0
C1GALT1	56913	broad.mit.edu	37	7	7278082	7278082	+	Silent	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr7:7278082C>T	ENST00000436587.2	+	3	640	c.417C>T	c.(415-417)ggC>ggT	p.G139G	C1GALT1_ENST00000223122.2_Silent_p.G139G|C1GALT1_ENST00000402468.3_Silent_p.G139G	NM_020156.3	NP_064541.1	Q9NS00	C1GLT_HUMAN	core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1	139					angiogenesis|cell differentiation|kidney development	integral to membrane	glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity|metal ion binding			breast(1)|kidney(1)|lung(3)|prostate(1)|urinary_tract(1)	7				UCEC - Uterine corpus endometrioid carcinoma (126;0.177)		CCAAAGAAGGCAGAGATCAAC	0.378000													12	79					0	0	1	0	0
UBQLNL	143630	broad.mit.edu	37	11	5537024	5537024	+	Silent	SNP	A	A	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:5537024A>T	ENST00000380184.1	-	1	911	c.648T>A	c.(646-648)ctT>ctA	p.L216L	HBG2_ENST00000380259.2_Intron	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	216										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)		CAGAATTATCAAGAAGAAGGC	0.453000													40	111					0	0	1	0	0
TRPM5	29850	broad.mit.edu	37	11	2435334	2435334	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:2435334G>A	ENST00000452833.1	-	12	1861	c.1853C>T	c.(1852-1854)aCc>aTc	p.T618I	TRPM5_ENST00000528453.1_Missense_Mutation_p.T616I|TRPM5_ENST00000155858.6_Missense_Mutation_p.T616I|TRPM5_ENST00000533060.1_Missense_Mutation_p.T616I			Q9NZQ8	TRPM5_HUMAN	transient receptor potential cation channel, subfamily M, member 5	616						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)		GTCAGCCTCGGTGGCCAGGTG	0.682000													4	13					0	0	1	0	0
SUMO3	6612	broad.mit.edu	37	21	46226842	46226842	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr21:46226842C>T	ENST00000397898.3	-	4	468	c.386G>A	c.(385-387)cGt>cAt	p.R129H	SUMO3_ENST00000332859.6_3'UTR|SUMO3_ENST00000411651.2_3'UTR|SUMO3_ENST00000479153.1_5'UTR			P55854	SUMO3_HUMAN	small ubiquitin-like modifier 3	0					protein sumoylation	cytoplasm|kinetochore	protein binding			prostate(1)	1				Colorectal(79;0.058)		CGAGGATGGACGGCCCGGGCT	0.602000													14	24					0	0	1	0	0
TRIP13	9319	broad.mit.edu	37	5	908488	908488	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr5:908488G>T	ENST00000166345.3	+	9	1134	c.778G>T	c.(778-780)Gcc>Tcc	p.A260S		NM_004237.3	NP_004228.1	Q15645	PCH2_HUMAN	thyroid hormone receptor interactor 13	260					double-strand break repair|reciprocal meiotic recombination|synaptonemal complex assembly|transcription from RNA polymerase II promoter		ATP binding|identical protein binding|nucleoside-triphosphatase activity|transcription cofactor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	18			Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165)			TCTCACAGCCGCCCGAAATGC	0.577000													89	45					6.07207e-39	9.7562e-39	1	1	0
GPR64	10149	broad.mit.edu	37	X	19018034	19018034	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:19018034C>A	ENST00000379878.3	-	24	2468	c.2227G>T	c.(2227-2229)Gat>Tat	p.D743Y	GPR64_ENST00000340581.3_Missense_Mutation_p.D640Y|GPR64_ENST00000360279.4_Missense_Mutation_p.D737Y|GPR64_ENST00000357544.3_Missense_Mutation_p.D729Y|GPR64_ENST00000379876.1_Missense_Mutation_p.D735Y|GPR64_ENST00000354791.3_Missense_Mutation_p.D743Y|GPR64_ENST00000357991.3_Missense_Mutation_p.D756Y|GPR64_ENST00000356606.4_Missense_Mutation_p.D745Y|GPR64_ENST00000379869.3_Missense_Mutation_p.D759Y|GPR64_ENST00000379873.2_Missense_Mutation_p.D759Y	NM_001184833.1	NP_001171762.1	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	759					neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					CCATAGTTATCTGGGGATATA	0.433000													34	124					4.4194e-11	5.6839e-11	1	1	0
ODF3L2	284451	broad.mit.edu	37	19	463927	463927	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:463927G>T	ENST00000315489.4	-	4	1022	c.787C>A	c.(787-789)Cgc>Agc	p.R263S	ODF3L2_ENST00000382696.3_Missense_Mutation_p.R227S	NM_182577.2	NP_872383.1	Q3SX64	OD3L2_HUMAN	outer dense fiber of sperm tails 3-like 2	263										large_intestine(1)|lung(2)	3						TTCGAGTGGCGGATGCCCATA	0.721000													9	23					0.000673444	0.000712181	1	1	0
CEP170B	283638	broad.mit.edu	37	14	105353664	105353664	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr14:105353664G>A	ENST00000453495.1	+	12	3319	c.3091G>A	c.(3091-3093)Gcc>Acc	p.A1031T	CEP170B_ENST00000414716.3_Missense_Mutation_p.A1030T|CEP170B_ENST00000418279.1_Missense_Mutation_p.A960T|CEP170B_ENST00000556508.1_Missense_Mutation_p.A960T					centrosomal protein 170B																		ACGGCGCTCAGCCATAAGGCG	0.677000													6	24					0	0	1	0	0
GAPVD1	26130	broad.mit.edu	37	9	128092475	128092475	+	Silent	SNP	A	A	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr9:128092475A>T	ENST00000470056.1	+	11	2311	c.2151A>T	c.(2149-2151)gtA>gtT	p.V717V	GAPVD1_ENST00000312123.9_Silent_p.V696V|GAPVD1_ENST00000265956.4_Silent_p.V717V|GAPVD1_ENST00000394083.2_Silent_p.V696V|GAPVD1_ENST00000394104.2_Silent_p.V717V|GAPVD1_ENST00000394105.2_Silent_p.V717V|GAPVD1_ENST00000297933.6_Silent_p.V717V|GAPVD1_ENST00000495955.1_Silent_p.V717V			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	717					endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						CTTGGAGTGTAGAGGTATTGC	0.423000													39	70					0	0	1	0	0
TNFRSF12A	51330	broad.mit.edu	37	16	3071845	3071845	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr16:3071845G>A	ENST00000575124.1	+	3	594	c.571G>A	c.(571-573)Gcc>Acc	p.A191T	TNFRSF12A_ENST00000341627.5_3'UTR|TNFRSF12A_ENST00000326577.4_3'UTR|TNFRSF12A_ENST00000573001.1_3'UTR			Q9NP84	TNR12_HUMAN	tumor necrosis factor receptor superfamily, member 12A	0					angiogenesis|apoptosis	integral to membrane	receptor activity			lung(1)|skin(1)	2						CCCCCTGCCAGCCGGGGCTCG	0.637000													5	58					0	0	1	0	0
NEUROD1	4760	broad.mit.edu	37	2	182543230	182543230	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr2:182543230C>A	ENST00000295108.3	-	2	815	c.358G>T	c.(358-360)Gcg>Tcg	p.A120S	NEUROD1_ENST00000496876.1_Intron|CERKL_ENST00000479558.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	120	Helix-loop-helix motif.				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	chromatin binding|E-box 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)			TTGTCTAGCGCCGCGTTCAGT	0.537000													11	45					2.80697e-09	3.43296e-09	1	1	0
SLC27A1	376497	broad.mit.edu	37	19	17598328	17598328	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:17598328G>A	ENST00000252595.7	+	4	881	c.784G>A	c.(784-786)Gtg>Atg	p.V262M	SLC27A1_ENST00000598424.1_Missense_Mutation_p.V83M|SLC27A1_ENST00000442725.1_Missense_Mutation_p.V262M	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN	solute carrier family 27 (fatty acid transporter), member 1	262	Sufficient for oligomerization (By similarity).				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						TGCCATTGTCGTGCACAGCAG	0.612000													10	16					0	0	1	0	0
CACNG1	786	broad.mit.edu	37	17	65052193	65052193	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr17:65052193C>T	ENST00000226021.3	+	4	546	c.475C>T	c.(475-477)Cgg>Tgg	p.R159W		NM_000727.3	NP_000718.1	Q06432	CCG1_HUMAN	calcium channel, voltage-dependent, gamma subunit 1	159					muscle contraction	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	8	all_cancers(12;1.04e-10)|Breast(2;1.45e-16)|all_epithelial(3;4.81e-12)				Amlodipine(DB00381)|Diltiazem(DB00343)|Ibutilide(DB00308)|Lercanidipine(DB00528)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Nitrendipine(DB01054)|Verapamil(DB00661)	GGAGGTCATGCGGCAGTCGGT	0.627000													8	74					0	0	1	0	0
KDM4A	9682	broad.mit.edu	37	1	44137428	44137428	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:44137428C>T	ENST00000372396.3	+	11	1750	c.1616C>T	c.(1615-1617)aCg>aTg	p.T539M		NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	539					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						CAAGGGCAAACGGGAGTTCTC	0.527000													49	95					0	0	1	0	0
B4GALT2	8704	broad.mit.edu	37	1	44450677	44450677	+	Silent	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:44450677C>T	ENST00000356836.6	+	4	1480	c.690C>T	c.(688-690)tgC>tgT	p.C230C	B4GALT2_ENST00000372324.1_Silent_p.C230C|B4GALT2_ENST00000481924.1_3'UTR|B4GALT2_ENST00000309519.7_Silent_p.C259C|B4GALT2_ENST00000434555.2_Silent_p.C164C	NM_001005417.2|NM_030587.2	NP_001005417.1|NP_085076.2	O60909	B4GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2	230					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			N-Acetyl-D-glucosamine(DB00141)	TATACCGCTGCGGCGACCAAC	0.612000													3	30					0	0	1	0	0
COL17A1	1308	broad.mit.edu	37	10	105799217	105799217	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr10:105799217G>T	ENST00000353479.5	-	43	3172	c.2882C>A	c.(2881-2883)cCc>cAc	p.P961H	COL17A1_ENST00000369733.3_Intron	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	961	Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GTCACCTTTGGGTCCCTGGGG	0.597000													21	61					1.36565e-18	1.97622e-18	1	1	0
ACTN4	81	broad.mit.edu	37	19	39220016	39220016	+	Missense_Mutation	SNP	G	G	A	rs141002044	byFrequency	TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:39220016G>A	ENST00000252699.2	+	21	2756	c.2680G>A	c.(2680-2682)Ggt>Agt	p.G894S	ACTN4_ENST00000390009.3_Missense_Mutation_p.G675S|ACTN4_ENST00000424234.2_Missense_Mutation_p.G504S|ACTN4_ENST00000497637.1_3'UTR	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	actinin, alpha 4	894					platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis	extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex	actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CGCCGTGCCCGGTGCCCTCGA	0.672000													7	43					0	0	1	0	0
KCNQ4	9132	broad.mit.edu	37	1	41284300	41284300	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:41284300G>A	ENST00000347132.5	+	4	738	c.656G>A	c.(655-657)cGc>cAc	p.R219H	KCNQ4_ENST00000509682.2_Missense_Mutation_p.R219H	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 4	219					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)			CGCATGGACCGCCGCGGCGGC	0.697000													6	21					0	0	1	0	0
IGHV3-16	28447	broad.mit.edu	37	14	106621989	106621989	+	RNA	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr14:106621989G>T	ENST00000390604.2	-	0	329																											ATGATGAATCGGCGCTTCACG	0.532000													140	169					4.60929e-88	7.52447e-88	1	1	0
KRBA1	84626	broad.mit.edu	37	7	149420020	149420020	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr7:149420020C>A	ENST00000255992.10	+	7	1144	c.745C>A	c.(745-747)Ctg>Atg	p.L249M	KRBA1_ENST00000479560.1_3'UTR|KRBA1_ENST00000485033.2_Missense_Mutation_p.L249M|KRBA1_ENST00000319551.8_Missense_Mutation_p.L249M	NM_032534.2	NP_115923.2	A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1	249										breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CAGAGCAGACCTGGGGCCTGG	0.622000													15	17					0.000219431	0.000236741	1	1	0
CCDC88B	283234	broad.mit.edu	37	11	64109510	64109510	+	Silent	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:64109510G>A	ENST00000356786.5	+	8	764	c.720G>A	c.(718-720)agG>agA	p.R240R	CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	240					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						TCTGCTTGAGGCCTGAGGCTC	0.652000													6	42					0	0	1	0	0
PDRG1	81572	broad.mit.edu	37	20	30538170	30538170	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr20:30538170T>A	ENST00000202017.4	-	2	238	c.108A>T	c.(106-108)aaA>aaT	p.K36N		NM_030815.2	NP_110442.1	Q9NUG6	PDRG1_HUMAN	p53 and DNA-damage regulated 1	36					protein folding	prefoldin complex	unfolded protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|stomach(1)	8			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			TCTGATTCCTTTTAGTGTCCA	0.527000													32	50					0	0	1	0	0
PLXNA1	5361	broad.mit.edu	37	3	126707962	126707962	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr3:126707962G>T	ENST00000251772.4	+	1	526	c.457G>T	c.(457-459)Ggg>Tgg	p.G153W	PLXNA1_ENST00000393409.2_Missense_Mutation_p.G176W			Q9UIW2	PLXA1_HUMAN	plexin A1	176	Sema.				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)		GCTCATTGCCGGGCCACCGGG	0.637000													9	20					9.70103e-10	1.20484e-09	1	1	0
GPR149	344758	broad.mit.edu	37	3	154147339	154147339	+	Silent	SNP	A	A	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr3:154147339A>T	ENST00000389740.2	-	1	165	c.66T>A	c.(64-66)tcT>tcA	p.S22S		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	22						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			AAAGGTCCGTAGAATTATGAT	0.368000													21	41					0	0	1	0	0
OR52E6	390078	broad.mit.edu	37	11	5862765	5862765	+	Silent	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:5862765G>T	ENST00000329322.5	-	1	362	c.363C>A	c.(361-363)gcC>gcA	p.A121A	TRIM5_ENST00000380027.1_Intron|OR52E6_ENST00000379946.2_Silent_p.A125A	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E, member 6	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGCGGTCAAAGGCCATGGCCA	0.458000													38	177					2.05212e-20	3.04224e-20	1	1	0
PLEK2	26499	broad.mit.edu	37	14	67859554	67859554	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr14:67859554A>G	ENST00000216446.4	-	5	634	c.494T>C	c.(493-495)gTg>gCg	p.V165A		NM_016445.1	NP_057529.1	Q9NYT0	PLEK2_HUMAN	pleckstrin 2	165	DEP.				actin cytoskeleton organization|intracellular signal transduction	cytoplasm|cytoskeleton|lamellipodium membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	15				all cancers(60;0.000728)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.00953)		GAGCCAGTCCACCAGGGAGGA	0.637000													12	10					0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78936449	78936449	+	Silent	SNP	C	C	T	rs34898066		TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr9:78936449C>T	ENST00000545128.1	+	30	4453	c.3915C>T	c.(3913-3915)caC>caT	p.H1305H		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	715					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	extracellular space|Golgi lumen|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						TCCTGCACCACGGAGTGTGCC	0.542000													25	74					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31323498	31323498	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr18:31323498T>A	ENST00000269197.5	+	12	3686	c.3686T>A	c.(3685-3687)aTg>aAg	p.M1229K		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1229	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						AGTGTGCCCATGCTTTTTAAT	0.368000													20	29					0	0	1	0	0
DNAH6	1768	broad.mit.edu	37	2	84811317	84811317	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr2:84811317G>T	ENST00000389394.3	+	15	2561	c.2424G>T	c.(2422-2424)ttG>ttT	p.L808F	DNAH6_ENST00000398278.2_Missense_Mutation_p.L808F|DNAH6_ENST00000237449.6_Missense_Mutation_p.L808F	NM_001370.1	NP_001361.1	Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	808	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						GTGTGCATTTGGGTAGTGATC	0.338000													5	75					0.014758	0.0151151	1	1	0
NLRP12	91662	broad.mit.edu	37	19	54304549	54304549	+	Silent	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:54304549C>A	ENST00000324134.6	-	7	2856	c.2688G>T	c.(2686-2688)ctG>ctT	p.L896L	NLRP12_ENST00000391773.1_Silent_p.L897L|NLRP12_ENST00000391772.1_Intron|NLRP12_ENST00000535162.1_Silent_p.L896L|NLRP12_ENST00000354278.3_Intron|NLRP12_ENST00000351894.4_Intron|NLRP12_ENST00000391775.3_Silent_p.L896L|NLRP12_ENST00000345770.5_Silent_p.L897L	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	896					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|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)		CGAGGTCCCCCAGCTCATTCA	0.617000													17	40					5.01169e-05	5.49156e-05	1	1	0
ENOX1	55068	broad.mit.edu	37	13	43872484	43872484	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr13:43872484G>T	ENST00000261488.6	-	12	2021	c.1444C>A	c.(1444-1446)Cag>Aag	p.Q482K	ENOX1_ENST00000412891.1_Missense_Mutation_p.Q482K	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	482					electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		CCAGGTACCTGCTGCATGCCT	0.433000													25	26					5.45024e-15	7.53228e-15	1	1	0
WDR52	55779	broad.mit.edu	37	3	113115476	113115476	+	Silent	SNP	T	T	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr3:113115476T>C	ENST00000393845.2	-	14	1734	c.1668A>G	c.(1666-1668)ggA>ggG	p.G556G	WDR52_ENST00000295868.2_Silent_p.G556G|WDR52_ENST00000475568.1_5'UTR	NM_001164496.1	NP_001157968.1	Q96MT7	WDR52_HUMAN	WD repeat domain 52	556										breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						TTTTCTTCCGTCCCGCAAAAA	0.393000													45	33					0	0	1	0	0
FAM129C	199786	broad.mit.edu	37	19	17660464	17660464	+	Silent	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:17660464C>A	ENST00000595684.1	+	15	2109	c.1971C>A	c.(1969-1971)ctC>ctA	p.L657L	FAM129C_ENST00000599124.1_Intron|FAM129C_ENST00000599164.1_Intron|FAM129C_ENST00000601861.1_Intron|FAM129C_ENST00000600871.1_Intron|FAM129C_ENST00000449408.2_Intron|FAM129C_ENST00000332386.5_Intron|FAM129C_ENST00000352727.3_Intron|FAM129C_ENST00000335393.4_Intron			Q86XR2	NIBL2_HUMAN	family with sequence similarity 129, member C	0										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						CACTTTGTCTCCTTACCCAGC	0.562000													3	9					0.115264	0.116511	1	1	0
FGD3	89846	broad.mit.edu	37	9	95738724	95738724	+	Silent	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr9:95738724G>T	ENST00000375482.3	+	3	682	c.186G>T	c.(184-186)acG>acT	p.T62T	FGD3_ENST00000468206.1_3'UTR|FGD3_ENST00000337352.6_Silent_p.T62T|FGD3_ENST00000416701.2_Silent_p.T62T	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	62					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	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						TAGGCCCCACGGGAGAGCTGA	0.637000													9	22					3.86212e-05	4.23813e-05	1	1	0
SHB	6461	broad.mit.edu	37	9	38016080	38016080	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr9:38016080G>C	ENST00000377707.3	-	2	1331	c.766C>G	c.(766-768)Ctc>Gtc	p.L256V	RP11-613M10.9_ENST00000540557.1_Missense_Mutation_p.L256V|SHB_ENST00000377700.4_Missense_Mutation_p.L256V	NM_003028.2	NP_003019.2	Q15464	SHB_HUMAN	Src homology 2 domain containing adaptor protein B	256	Mediates interaction with LAT, FAK1, JAK1 and JAK3.				angiogenesis|apoptosis|cell differentiation|signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)	11		all_epithelial(88;0.122)		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)		TTGCTCTTGAGATCATTCTTG	0.522000													13	108					0	0	1	0	0
SERPINA12	145264	broad.mit.edu	37	14	94964722	94964722	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr14:94964722G>C	ENST00000341228.2	-	3	808	c.13C>G	c.(13-15)Cta>Gta	p.L5V	SERPINA12_ENST00000556881.1_Missense_Mutation_p.L5V	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	5					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		GCCAGGCCTAGTGTGGGGTTC	0.458000													58	68					0	0	1	0	0
KCNH7	90134	broad.mit.edu	37	2	163693073	163693073	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr2:163693073A>G	ENST00000332142.5	-	2	380	c.281T>C	c.(280-282)gTg>gCg	p.V94A	KCNH7_ENST00000328032.4_Missense_Mutation_p.V94A	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	94	PAC.				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	GGTGACCTCCACTTTCCTCTC	0.413000													10	22					0	0	1	0	0
HBG2	3048	broad.mit.edu	37	11	5275536	5275536	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:5275536G>A	ENST00000380259.2	-	7	1541	c.301C>T	c.(301-303)Cct>Tct	p.P101S	HBG2_ENST00000336906.4_Missense_Mutation_p.P101S|HBG2_ENST00000380252.1_Missense_Mutation_p.P91S					hemoglobin, gamma G											endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	13		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)		AAGTTCTCAGGATCCACATGC	0.507000													13	86					0	0	1	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88885963	88885963	+	Silent	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr8:88885963C>A	ENST00000319675.3	-	1	333	c.237G>T	c.(235-237)gcG>gcT	p.A79A		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	79								p.A79A(1)		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						TGTTGGTATTCGCCAGTATGC	0.552000													37	77					1.42033e-22	2.13956e-22	1	1	0
CLEC5A	23601	broad.mit.edu	37	7	141645175	141645175	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr7:141645175G>C	ENST00000546910.1	-	3	301	c.105C>G	c.(103-105)aaC>aaG	p.N35K	CLEC5A_ENST00000439991.1_5'UTR|CLEC5A_ENST00000438351.1_Missense_Mutation_p.N35K|CLEC5A_ENST00000551012.2_Missense_Mutation_p.N35K|CLEC5A_ENST00000470595.1_Intron	NM_013252.2	NP_037384.1	Q9NY25	CLC5A_HUMAN	C-type lectin domain family 5, member A	35					anti-apoptosis|cellular defense response|innate immune response|interspecies interaction between organisms|osteoblast development	cell surface|integral to plasma membrane	sugar binding|viral receptor activity			endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	10	Melanoma(164;0.0171)					TGAAACCATCGTTACTTTTGT	0.433000													13	56					0	0	1	0	0
EEF1G	1937	broad.mit.edu	37	11	62339102	62339102	+	Silent	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:62339102C>T	ENST00000378019.3	-	4	528	c.438G>A	c.(436-438)gtG>gtA	p.V146V	MIR3654_ENST00000496634.2_3'UTR|EEF1G_ENST00000329251.4_Silent_p.V96V|EEF1G_ENST00000532986.1_5'UTR			P26641	EF1G_HUMAN	eukaryotic translation elongation factor 1 gamma	96	GST C-terminal.				response to virus	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TCACCCACTGCACCACCTGGG	0.577000													5	16					0	0	1	0	0
BCORL1	63035	broad.mit.edu	37	X	129189899	129189899	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:129189899C>T	ENST00000540052.1	+	12	4968	c.4924C>T	c.(4924-4926)Cgg>Tgg	p.R1642W	BCORL1_ENST00000303743.5_Missense_Mutation_p.R1716W|BCORL1_ENST00000359304.2_Missense_Mutation_p.R1512W|BCORL1_ENST00000218147.7_Missense_Mutation_p.R1642W	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1642					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		p.R1642R(1)		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						CTTTCAGGCCCGGTTCCCGCA	0.567000													24	182					0	0	1	0	0
MIR519A1	574496	broad.mit.edu	37	19	54255668	54255668	+	RNA	SNP	T	T	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:54255668T>C	ENST00000385257.1	+	0	18					NR_030218.1																						TGTGACACTCTAGAGGGAAGC	0.408000													55	96					0	0	1	0	0
WIPF2	147179	broad.mit.edu	37	17	38420958	38420958	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr17:38420958C>A	ENST00000323571.4	+	5	770	c.530C>A	c.(529-531)cCt>cAt	p.P177H	WIPF2_ENST00000394103.3_Intron|WIPF2_ENST00000536600.1_Intron|WIPF2_ENST00000583130.1_Missense_Mutation_p.P177H|WIPF2_ENST00000585043.1_Missense_Mutation_p.P177H|WIPF2_ENST00000494757.1_3'UTR	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN	WAS/WASL interacting protein family, member 2	177	Poly-Pro.					cytoplasm|cytoskeleton	actin binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						TCCTCTGCCCCTCCCCCACCA	0.632000										HNSCC(43;0.11)			15	84					0.000219431	0.000236741	1	1	0
FAM83E	54854	broad.mit.edu	37	19	49106851	49106851	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:49106851C>T	ENST00000263266.3	-	4	1265	c.1076G>A	c.(1075-1077)cGc>cAc	p.R359H		NM_017708.3	NP_060178.2	Q2M2I3	FA83E_HUMAN	family with sequence similarity 83, member E	359										NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10		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;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		ggtccgggcgcgcTGCACACT	0.741000													7	7					0	0	1	0	0
DCHS1	8642	broad.mit.edu	37	11	6651268	6651268	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:6651268G>T	ENST00000299441.3	-	10	5168	c.4757C>A	c.(4756-4758)tCt>tAt	p.S1586Y		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1586	Cadherin 15.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.S1586F(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTCCCCGCCAGATGCCAGCCG	0.687000													9	21					9.31168e-06	1.04378e-05	1	1	0
TSHZ3	57616	broad.mit.edu	37	19	31767987	31767987	+	Silent	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:31767987C>A	ENST00000240587.4	-	2	3039	c.2712G>T	c.(2710-2712)ctG>ctT	p.L904L		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	904					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)					CCTGGAGGATCAGGAGGTGCT	0.622000													14	29					3.27435e-08	3.917e-08	1	1	0
CHRDL1	91851	broad.mit.edu	37	X	109963062	109963062	+	Splice_Site	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:109963062C>A	ENST00000218054.4	-	6	735		c.e6+1		CHRDL1_ENST00000372045.1_Splice_Site|CHRDL1_ENST00000394797.4_Splice_Site|CHRDL1_ENST00000372042.1_Splice_Site|CHRDL1_ENST00000444321.2_Splice_Site|CHRDL1_ENST00000482160.1_Intron|CHRDL1_ENST00000434224.1_Intron	NM_001143981.1|NM_001143982.1|NM_145234.3	NP_001137453.1|NP_001137454.1|NP_660277.2	Q9BU40	CRDL1_HUMAN	chordin-like 1						BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region				endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						AACACACCTACCTCTGCATAC	0.478000													19	99					3.73194e-20	5.51795e-20	1	1	0
BAZ1B	9031	broad.mit.edu	37	7	72892218	72892218	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr7:72892218G>A	ENST00000339594.4	-	7	1911	c.1573C>T	c.(1573-1575)Cgc>Tgc	p.R525C	BAZ1B_ENST00000404251.1_Missense_Mutation_p.R525C	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	525	Lys-rich.				ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|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)				AGTTCATAGCGTTTTTGAACA	0.433000													17	111					0	0	1	0	0
RASL10B	91608	broad.mit.edu	37	17	34062246	34062246	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr17:34062246G>T	ENST00000268864.3	+	2	420	c.43G>T	c.(43-45)Gtg>Ttg	p.V15L		NM_033315.3	NP_201572.1	Q96S79	RSLAB_HUMAN	RAS-like, family 10, member B	15	Small GTPase-like.				small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			breast(2)|endometrium(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GGCGCGAGGTGTGGGCAAGAG	0.687000													23	46					7.87624e-14	1.06617e-13	1	1	0
SPATA31D1	389763	broad.mit.edu	37	9	84610009	84610009	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr9:84610009G>T	ENST00000344803.2	+	4	4671	c.4624G>T	c.(4624-4626)Gtc>Ttc	p.V1542F		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		GTGTCCAGCCGTCCCAACCAG	0.532000													5	11					1.23904e-05	1.37992e-05	1	1	0
VDAC1	7416	broad.mit.edu	37	5	133308482	133308482	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr5:133308482C>G	ENST00000265333.3	-	9	1076	c.832G>C	c.(832-834)Gga>Cga	p.G278R	VDAC1_ENST00000395044.3_Missense_Mutation_p.G278R|VDAC1_ENST00000395047.2_Missense_Mutation_p.G278R	NM_003374.2	NP_003365.1	P21796	VDAC1_HUMAN	voltage-dependent anion channel 1	278					apoptosis|interspecies interaction between organisms	mitochondrial nucleoid|mitochondrial outer membrane|plasma membrane|pore complex	porin activity|protein binding|voltage-gated anion channel activity			endometrium(1)|large_intestine(1)|lung(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)		Dihydroxyaluminium(DB01375)	AATTCCAGTCCTAGACCAAGC	0.383000													17	22					0	0	1	0	0
AQP9	366	broad.mit.edu	37	15	58458998	58458998	+	Splice_Site	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr15:58458998G>T	ENST00000219919.4	+	2	608	c.238_splice	c.e2+1	p.G80_splice	AQP9_ENST00000558772.1_Splice_Site_p.G15_splice|AQP9_ENST00000536493.1_Splice_Site_p.G80_splice|ALDH1A2_ENST00000558231.1_Intron	NM_020980.3	NP_066190.2	O43315	AQP9_HUMAN	aquaporin 9	80					cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis	integral to plasma membrane|intracellular membrane-bounded organelle	amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)	21				GBM - Glioblastoma multiforme(80;0.16)		CGGTGTCTCTGGTAAGCAGTA	0.443000													21	89					1.00905e-13	1.3577e-13	1	1	0
IGHM	3507	broad.mit.edu	37	14	106321707	106321707	+	RNA	SNP	T	T	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr14:106321707T>C	ENST00000390559.2	-	0	526																											GGTCACCTTGTAGGTCGTGGG	0.617000													15	28					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	123654554	123654554	+	Silent	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:123654554G>T	ENST00000422452.2	-	18	3177	c.3114C>A	c.(3112-3114)acC>acA	p.T1038T	TENM1_ENST00000371130.3_Silent_p.T1038T	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		TCCGTAGCAGGGTTTTATACC	0.463000													16	45					0.000308642	0.000330131	1	1	0
NXPH1	30010	broad.mit.edu	37	7	8475356	8475356	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr7:8475356T>C	ENST00000405863.1	+	2	924	c.13T>C	c.(13-15)Tgc>Cgc	p.C5R	NXPH1_ENST00000602349.1_5'UTR	NM_152745.2	NP_689958.1	P58417	NXPH1_HUMAN	neurexophilin 1	5						extracellular region				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1)	17		Ovarian(82;0.0628)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		GCAGGCTGCGTGCTGGTACGT	0.532000													56	62					0	0	1	0	0
LAX1	54900	broad.mit.edu	37	1	203743277	203743277	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:203743277C>A	ENST00000442561.2	+	5	1055	c.665C>A	c.(664-666)aCc>aAc	p.T222N	LAX1_ENST00000367217.5_Missense_Mutation_p.T206N|LAX1_ENST00000367215.1_3'UTR	NM_017773.3	NP_060243.2	Q8IWV1	LAX1_HUMAN	lymphocyte transmembrane adaptor 1	222					B cell activation|immune response|inactivation of MAPK activity|intracellular signal transduction|negative regulation of T cell activation	Golgi apparatus|integral to membrane|plasma membrane	protein kinase binding|SH2 domain binding			central_nervous_system(2)|endometrium(3)|large_intestine(2)|lung(13)|prostate(1)|stomach(1)|urinary_tract(2)	24	all_cancers(21;0.0915)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CTTCCCAGTACCCAGAAGCTG	0.478000													17	33					9.16793e-09	1.10498e-08	1	1	0
UBASH3B	84959	broad.mit.edu	37	11	122650363	122650363	+	Silent	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:122650363G>A	ENST00000284273.5	+	4	936	c.561G>A	c.(559-561)aaG>aaA	p.K187K		NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing B	187						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)		TCCTCAAGAAGTTTGCTGCTG	0.542000													26	114					0	0	1	0	0
TGM1	7051	broad.mit.edu	37	14	24728975	24728975	+	Silent	SNP	G	G	T	rs121918731		TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr14:24728975G>T	ENST00000206765.6	-	6	1042	c.919C>A	c.(919-921)Cgg>Agg	p.R307R	TGM1_ENST00000544573.1_Intron	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	307			R -> G (in ARCI-TGM1).|R -> W (in LI1).		cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity	p.R307W(1)		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)	ATCCCCCGCCGGTCCAGGATG	0.602000													8	22					0.000274275	0.000293932	1	1	0
UQCC1	55245	broad.mit.edu	37	20	33934981	33934981	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr20:33934981C>T	ENST00000397554.1	-	7	569	c.559G>A	c.(559-561)Ggc>Agc	p.G187S	UQCC_ENST00000374384.2_Missense_Mutation_p.G187S|UQCC_ENST00000374377.5_Missense_Mutation_p.G75S|UQCC_ENST00000374380.2_Missense_Mutation_p.G119S|UQCC_ENST00000542501.1_Missense_Mutation_p.R143Q|UQCC_ENST00000349714.5_Missense_Mutation_p.G160S|UQCC_ENST00000407996.2_Intron|UQCC_ENST00000359226.2_Intron|UQCC_ENST00000491125.1_5'UTR|UQCC_ENST00000540457.1_Missense_Mutation_p.G32S|UQCC_ENST00000397556.3_Missense_Mutation_p.G88S|UQCC_ENST00000374385.5_Missense_Mutation_p.G187S			Q9NVA1	UQCC_HUMAN		187						cytoplasmic membrane-bounded vesicle				breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1)	17			BRCA - Breast invasive adenocarcinoma(18;0.00252)			ATGACTCTGCCGCGCTGCTGA	0.488000													19	121					0	0	1	0	0
GPR132	29933	broad.mit.edu	37	14	105518050	105518050	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr14:105518050C>T	ENST00000329797.3	-	4	1335	c.424G>A	c.(424-426)Gtg>Atg	p.V142M	GPR132_ENST00000392585.2_Missense_Mutation_p.V133M|GPR132_ENST00000539291.2_Missense_Mutation_p.V142M|GPR132_ENST00000546679.1_5'UTR	NM_013345.2	NP_037477.1	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132	142					response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		ACCACGGCCACGAAGCGGTCG	0.627000													28	148					0	0	1	0	0
PDZRN4	29951	broad.mit.edu	37	12	41967124	41967124	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr12:41967124G>T	ENST00000298919.7	+	10	2151	c.1763G>T	c.(1762-1764)cGg>cTg	p.R588L	PDZRN4_ENST00000402685.2_Missense_Mutation_p.R848L|PDZRN4_ENST00000539469.2_Missense_Mutation_p.R590L			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	848							ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				GCACACGCCCGGCATTATCAA	0.478000													58	146					4.54978e-40	7.31553e-40	1	1	0
ADAMTS17	170691	broad.mit.edu	37	15	100802629	100802629	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr15:100802629C>A	ENST00000268070.4	-	5	906	c.801G>T	c.(799-801)atG>atT	p.M267I		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	267	Peptidase M12B.				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)		GGTGCTGAAACATATTGTATA	0.378000													31	92					2.49534e-26	3.83623e-26	1	1	0
JAKMIP3	282973	broad.mit.edu	37	10	133930815	133930815	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr10:133930815C>T	ENST00000298622.4	+	2	508	c.370C>T	c.(370-372)Cgt>Tgt	p.R124C		NM_001105521.2	NP_001098991.1			Janus kinase and microtubule interacting protein 3											breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		CAGTGCCCTGCGTGATGGCGG	0.617000													10	63					0	0	1	0	0
MED15	51586	broad.mit.edu	37	22	20939288	20939288	+	Silent	SNP	C	C	T	rs143509872		TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr22:20939288C>T	ENST00000263205.7	+	15	2019	c.1950C>T	c.(1948-1950)caC>caT	p.H650H	MED15_ENST00000382974.2_Silent_p.H539H|MED15_ENST00000542773.1_3'UTR|MED15_ENST00000406969.1_Silent_p.H584H|MED15_ENST00000425759.2_Silent_p.H499H|MED15_ENST00000541476.1_Silent_p.H584H|MED15_ENST00000292733.7_Silent_p.H610H	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	650					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			CCGCCATTCACGGCCCACCCA	0.652000													19	180					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11039058	11039058	+	RNA	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr21:11039058C>T	ENST00000470054.1	-	0	1145									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TCCATCAATCCAGTAGAAAGT	0.398000													17	273					0	0	1	0	0
ZNF135	7694	broad.mit.edu	37	19	58573027	58573027	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:58573027T>C	ENST00000401053.4	+	2	152	c.149T>C	c.(148-150)cTg>cCg	p.L50P	ZNF135_ENST00000511556.1_Missense_Mutation_p.L38P|ZNF135_ENST00000506786.1_5'UTR|ZNF135_ENST00000359978.6_Missense_Mutation_p.L50P|ZNF135_ENST00000313434.5_Missense_Mutation_p.L38P|ZNF135_ENST00000439855.2_Missense_Mutation_p.L38P	NM_001164529.1|NM_007134.1	NP_001158001.1|NP_009065.1	B4DHH9	B4DHH9_HUMAN	zinc finger protein 135	38					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		CAGAGGACCCTGTACCGTGAT	0.557000													47	91					0	0	1	0	0
MAP4K2	5871	broad.mit.edu	37	11	64564481	64564481	+	Silent	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:64564481G>A	ENST00000294066.2	-	20	1471	c.1380C>T	c.(1378-1380)caC>caT	p.H460H	MAP4K2_ENST00000377350.3_Silent_p.H452H	NM_004579.3	NP_004570.2	Q12851	M4K2_HUMAN	mitogen-activated protein kinase kinase kinase kinase 2	460					activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting	basolateral plasma membrane|Golgi membrane|soluble fraction	ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2)	8						GGGGGAGCCCGTGGCAGGATG	0.642000													18	96					0	0	1	0	0
ATP4A	495	broad.mit.edu	37	19	36045906	36045906	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:36045906G>A	ENST00000262623.3	-	16	2427	c.2399C>T	c.(2398-2400)cCc>cTc	p.P800L		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	800					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	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)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	GATGAGGTAGGGTGTCAGCTC	0.552000													22	43					0	0	1	0	0
POLR1A	25885	broad.mit.edu	37	2	86255821	86255821	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr2:86255821C>A	ENST00000263857.6	-	32	5171	c.4793G>T	c.(4792-4794)cGc>cTc	p.R1598L	POLR1A_ENST00000409681.1_Missense_Mutation_p.R1537L			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	1598					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						GTAGAGGCGGCGCAGATCCAG	0.587000													11	28					0.000673444	0.000712181	1	1	0
CROCC	9696	broad.mit.edu	37	1	17256926	17256926	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:17256926G>T	ENST00000375541.5	+	7	755	c.686G>T	c.(685-687)aGt>aTt	p.S229I	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	229					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		CCATTCAGGAGTGCCAGCCTG	0.652000													19	90					1.00905e-13	1.3577e-13	1	1	0
DCAF12L2	340578	broad.mit.edu	37	X	125299815	125299815	+	Silent	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:125299815C>T	ENST00000538699.1	-	2	173	c.93G>A	c.(91-93)gcG>gcA	p.A31A	DCAF12L2_ENST00000360028.2_Silent_p.A31A	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	31										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						CCTCTCCGTCCGCCGCCGCTA	0.701000													17	21					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105411420	105411420	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr14:105411420C>A	ENST00000333244.5	-	7	10487	c.10368G>T	c.(10366-10368)gaG>gaT	p.E3456D	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3456						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)			ACAGGTCCCCCTCCAGCCGCG	0.617000													162	254					1.0911e-51	1.77472e-51	1	1	0
PKLR	5313	broad.mit.edu	37	1	155265004	155265004	+	Silent	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:155265004G>A	ENST00000392414.3	-	5	617	c.504C>T	c.(502-504)acC>acT	p.T168T	PKLR_ENST00000342741.4_Silent_p.T199T	NM_181871.3	NP_870986.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC	199					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)	CCACCCACACGGTGTTCGCGT	0.632000													31	322					0	0	1	0	0
MAGI2	9863	broad.mit.edu	37	7	79082336	79082336	+	Splice_Site	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr7:79082336C>T	ENST00000354212.4	-	1	554	c.301_splice	c.e1+1	p.G101_splice	MAGI2_ENST00000419488.1_Splice_Site_p.G101_splice|MAGI2-AS3_ENST00000429408.1_RNA|MAGI2_ENST00000522391.1_Splice_Site_p.G101_splice	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	101	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)				CTGCTCTCACCTTGCTTGACA	0.647000													37	61					0	0	1	0	0
SLC26A3	1811	broad.mit.edu	37	7	107431609	107431609	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr7:107431609G>T	ENST00000340010.5	-	5	638	c.454C>A	c.(454-456)Cgc>Agc	p.R152S	SLC26A3_ENST00000422236.2_Missense_Mutation_p.R117S	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	152					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						GTTGCATTGCGATCTGGGACT	0.498000													44	49					4.07013e-28	6.31786e-28	1	1	0
ZBTB40	9923	broad.mit.edu	37	1	22848956	22848956	+	Splice_Site	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:22848956G>T	ENST00000404138.1	+	17	3809	c.3298_splice	c.e17+1	p.G1100_splice	ZBTB40_ENST00000375647.4_Splice_Site_p.G1100_splice|ZBTB40_ENST00000374651.4_Splice_Site_p.G988_splice	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	1100					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)		CCAGCATTCAGGTCAGTACCC	0.507000													26	93					2.65835e-16	3.7572e-16	1	1	0
OR10X1	128367	broad.mit.edu	37	1	158549397	158549397	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:158549397A>T	ENST00000368150.1	-	1	292	c.293T>A	c.(292-294)cTg>cAg	p.L98Q		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	98					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					TAGATCTTCCAGCATCTTGGG	0.498000													15	75					0	0	1	0	0
C1orf172	126695	broad.mit.edu	37	1	27278351	27278351	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:27278351T>C	ENST00000320567.5	-	2	609	c.521A>G	c.(520-522)tAc>tGc	p.Y174C		NM_152365.2	NP_689578.2	Q8NAX2	CA172_HUMAN	chromosome 1 open reading frame 172	174										NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		GGCCCTCGGGTAGGGATACAC	0.657000													23	64					0	0	1	0	0
IBSP	3381	broad.mit.edu	37	4	88731895	88731895	+	Silent	SNP	T	T	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr4:88731895T>C	ENST00000226284.5	+	6	451	c.384T>C	c.(382-384)gcT>gcC	p.A128A		NM_004967.3	NP_004958.2	P21815	SIAL_HUMAN	integrin-binding sialoprotein	128	Asp/Glu-rich (acidic).				biomineral tissue development|cell adhesion|ossification			p.A128A(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		CAGGGTTAGCTGCAATCCAGC	0.398000													20	76					0	0	1	0	0
MPP2	4355	broad.mit.edu	37	17	41959867	41959867	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr17:41959867G>A	ENST00000269095.4	-	6	770	c.466C>T	c.(466-468)Cgc>Tgc	p.R156C	MPP2_ENST00000518766.1_Missense_Mutation_p.R201C|MPP2_ENST00000520305.1_Missense_Mutation_p.R17C|MPP2_ENST00000377184.3_Missense_Mutation_p.R173C|MPP2_ENST00000461854.1_Missense_Mutation_p.R180C|MPP2_ENST00000536246.1_Missense_Mutation_p.R145C|MPP2_ENST00000523501.1_Missense_Mutation_p.R145C|MPP2_ENST00000473246.1_5'UTR	NM_001278370.1|NM_001278381.1|NM_005374.3	NP_001265299.1|NP_001265310.1|NP_005365.3	Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	180					signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		CCCTCCACGCGGAACGTTACA	0.552000													9	45					0	0	1	0	0
WAS	7454	broad.mit.edu	37	X	48546814	48546814	+	Silent	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:48546814G>A	ENST00000376701.4	+	9	978	c.903G>A	c.(901-903)gaG>gaA	p.E301E		NM_000377.2	NP_000368.1	P42768	WASP_HUMAN	Wiskott-Aldrich syndrome	301					blood coagulation|defense response|epidermis development|immune response|T cell receptor signaling pathway	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)				GTGGGCTGGAGGCTGTGCGGC	0.577000			"""Mis, N, F, S"""			lymphoma							8	28					0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48613831	48613831	+	Splice_Site	SNP	A	A	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr3:48613831A>T	ENST00000328333.8	-	69	5880		c.e69+1		COL7A1_ENST00000454817.1_Splice_Site	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1						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)		TGGGGGCCTCACCTGCTCCCC	0.592000													4	25					0	0	1	0	0
TAB3	257397	broad.mit.edu	37	X	30873434	30873434	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:30873434C>A	ENST00000378933.1	-	3	525	c.348G>T	c.(346-348)caG>caT	p.Q116H	TAB3_ENST00000288422.2_Missense_Mutation_p.Q116H|TAB3_ENST00000378932.2_Missense_Mutation_p.Q116H|TAB3_ENST00000378930.3_Missense_Mutation_p.Q116H	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 3	116					activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						AACATATCAGCTGTTTACCTG	0.453000													17	39					6.94344e-10	8.6523e-10	1	1	0
LRP1B	53353	broad.mit.edu	37	2	141032055	141032055	+	Silent	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr2:141032055C>T	ENST00000389484.3	-	85	14051	c.13080G>A	c.(13078-13080)aaG>aaA	p.K4360K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4360					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)		ACCTTACACACTTGTCAACCT	0.403000										TSP Lung(27;0.18)			24	62					0	0	1	0	0
FAM131B	9715	broad.mit.edu	37	7	143054034	143054034	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr7:143054034G>T	ENST00000409408.1	-	6	2316	c.608C>A	c.(607-609)gCc>gAc	p.A203D	FAM131B_ENST00000409222.3_Missense_Mutation_p.A203D|FAM131B_ENST00000409346.1_Missense_Mutation_p.A203D|FAM131B_ENST00000409578.1_Missense_Mutation_p.A219D|FAM131B_ENST00000443739.2_Missense_Mutation_p.A231D			Q86XD5	F131B_HUMAN	family with sequence similarity 131, member B	203										breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24	Melanoma(164;0.205)					GGCTTCCCAGGCATCTGACGA	0.542000													9	62					0.00829132	0.008594	1	1	0
TRMT2B	79979	broad.mit.edu	37	X	100274347	100274347	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:100274347A>G	ENST00000338687.7	-	11	1884	c.1079T>C	c.(1078-1080)tTg>tCg	p.L360S	TRMT2B_ENST00000545398.1_Missense_Mutation_p.L405S|TRMT2B_ENST00000372936.3_Missense_Mutation_p.L405S|TRMT2B_ENST00000372931.5_Missense_Mutation_p.L405S|TRMT2B_ENST00000372939.1_Missense_Mutation_p.L360S|TRMT2B_ENST00000372935.1_Missense_Mutation_p.L405S			Q96GJ1	TRM2_HUMAN	tRNA methyltransferase 2 homolog B (S. cerevisiae)	405							tRNA (uracil-5-)-methyltransferase activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	24						CAGCCCTGGCAAAATCTTCTC	0.483000													15	59					0	0	1	0	0
CTBP1-AS2	92070	broad.mit.edu	37	4	1244607	1244607	+	RNA	SNP	G	G	A	rs112223170		TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr4:1244607G>A	ENST00000581398.1	+	0	561				CTBP1-AS2_ENST00000357591.2_RNA|CTBP1-AS2_ENST00000514984.1_RNA|CTBP1-AS2_ENST00000578730.1_RNA	NR_033339.1																						TGGCTCCCGCGTGGACTTGCA	0.562000													14	51					0	0	1	0	0
LDB3	11155	broad.mit.edu	37	10	88477868	88477868	+	Silent	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr10:88477868G>A	ENST00000429277.2	+	11	1984	c.1839G>A	c.(1837-1839)ccG>ccA	p.P613P	LDB3_ENST00000361373.4_Silent_p.P608P|LDB3_ENST00000263066.6_Silent_p.P498P|LDB3_ENST00000458213.2_Silent_p.P498P|LDB3_ENST00000352360.5_Silent_p.P351P	NM_001171610.1	NP_001165081.1	O75112	LDB3_HUMAN	LIM domain binding 3	608	LIM zinc-binding 2.					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						TCTTTGCCCCGCTGTGTGCCA	0.522000													15	101					0	0	1	0	0
TECTA	7007	broad.mit.edu	37	11	121000389	121000389	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:121000389G>A	ENST00000392793.1	+	10	2681	c.2410G>A	c.(2410-2412)Ggg>Agg	p.G804R	TECTA_ENST00000264037.2_Missense_Mutation_p.G804R			O75443	TECTA_HUMAN	tectorin alpha	804	VWFD 2.				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)		CCATCCTTCGGGGAAGCTGGA	0.438000													67	154					0	0	1	0	0
ARMC9	80210	broad.mit.edu	37	2	232196607	232196607	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr2:232196607G>T	ENST00000349938.4	+	20	2070	c.1876G>T	c.(1876-1878)Ggg>Tgg	p.G626W	ARMC9_ENST00000483477.1_3'UTR	NM_001271466.1|NM_025139.3	NP_001258395.1|NP_079415.3	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	626							binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		GGAGTACCTGGGGGTAAGTGC	0.512000													3	26					1.024e-07	1.21526e-07	1	1	0
ZNF831	128611	broad.mit.edu	37	20	57766453	57766453	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr20:57766453G>T	ENST00000371030.2	+	1	379	c.379G>T	c.(379-381)Ggc>Tgc	p.G127C		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	127						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)					CCTGTCGCCGGGCCTGGGCCC	0.682000													32	59					5.77227e-19	8.38549e-19	1	1	0
BAGE2	85319	broad.mit.edu	37	21	11047546	11047546	+	RNA	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr21:11047546C>A	ENST00000470054.1	-	0	708									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GTATGATACCCTTTGTCACAC	0.338000													16	331					7.07596e-05	7.73082e-05	1	1	0
IGLV5-48	28780	broad.mit.edu	37	22	22707616	22707616	+	RNA	SNP	C	C	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr22:22707616C>G	ENST00000390293.1	+	0	204																											CCCGGTATCTCCTGAGCTACT	0.532000													70	16					0	0	1	0	0
CNKSR2	22866	broad.mit.edu	37	X	21534654	21534654	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:21534654G>T	ENST00000425654.2	+	9	1342	c.862G>T	c.(862-864)Ggt>Tgt	p.G288C	CNKSR2_ENST00000379510.3_Missense_Mutation_p.G288C|CNKSR2_ENST00000279451.4_Missense_Mutation_p.G288C|CNKSR2_ENST00000543067.1_Intron	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	288	PDZ.				regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						GGACCCGAGTGGTGTTATCTT	0.423000													22	70					3.62473e-10	4.55223e-10	1	1	0
AKNA	80709	broad.mit.edu	37	9	117119166	117119166	+	Silent	SNP	T	T	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr9:117119166T>C	ENST00000307564.4	-	13	2984	c.2823A>G	c.(2821-2823)ccA>ccG	p.P941P	AKNA_ENST00000374075.5_Silent_p.P860P|AKNA_ENST00000374088.3_Silent_p.P941P|AKNA_ENST00000223791.3_Silent_p.P401P	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	941					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						GCCGGTGCTCTGGAGTCTGGG	0.587000													40	89					0	0	1	0	0
FAM71A	149647	broad.mit.edu	37	1	212798307	212798307	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:212798307C>T	ENST00000294829.3	+	1	519	c.88C>T	c.(88-90)Cga>Tga	p.R30*	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	30										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)		GAAACTGCAGCGACAACTGTA	0.468000													7	67					0	0	1	0	0
GPC4	2239	broad.mit.edu	37	X	132436931	132436931	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:132436931G>T	ENST00000370828.3	-	9	2159	c.1635C>A	c.(1633-1635)tgC>tgA	p.C545*	GPC4_ENST00000535467.1_Nonsense_Mutation_p.C475*	NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN	glypican 4	545					anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					GGAACAAGATGCAGAAGACAG	0.468000													30	136					1.88708e-17	2.70462e-17	1	1	0
LDB2	9079	broad.mit.edu	37	4	16504338	16504338	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr4:16504338G>T	ENST00000304523.5	-	8	1373	c.1050C>A	c.(1048-1050)agC>agA	p.S350R	LDB2_ENST00000515064.1_Missense_Mutation_p.S348R|RP11-446J8.1_ENST00000512370.1_RNA|LDB2_ENST00000441778.2_3'UTR|LDB2_ENST00000502640.1_3'UTR	NM_001290.3	NP_001281.1	O43679	LDB2_HUMAN	LIM domain binding 2	350							LIM domain binding|transcription cofactor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						TGTTCCACGGGCTGTTGTTCC	0.517000													73	170					6.8682e-38	1.10038e-37	1	1	0
OR2T34	127068	broad.mit.edu	37	1	248738035	248738035	+	Silent	SNP	A	A	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:248738035A>T	ENST00000328782.2	-	1	45	c.24T>A	c.(22-24)tcT>tcA	p.S8S		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	8					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	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;0.0265)			TTTGATTCTGAGAAGTCTGAT	0.448000													16	85					0	0	1	0	0
LOC645166	645166	broad.mit.edu	37	1	148932875	148932875	+	RNA	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:148932875G>A	ENST00000539543.1	+	0	131					NR_027355.1																						GGTGGGAGACGGGTGAGGTAC	0.632000													10	256					0	0	1	0	0
NOD2	64127	broad.mit.edu	37	16	50745496	50745496	+	Silent	SNP	G	G	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr16:50745496G>C	ENST00000300589.2	+	4	1779	c.1674G>C	c.(1672-1674)ctG>ctC	p.L558L		NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	558	NACHT.				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|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 JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|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 signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	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)				TGTGGGGCCTGGGCATGTGCT	0.642000													7	10					0	0	1	0	0
DCP1A	55802	broad.mit.edu	37	3	53381435	53381435	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr3:53381435G>T	ENST00000607628.1	-	1	219	c.110C>A	c.(109-111)aCc>aAc	p.T37N	DCP1A_ENST00000294241.6_Missense_Mutation_p.T37N|DCP1A_ENST00000606822.1_Missense_Mutation_p.T37N|DCP1A_ENST00000480258.1_5'UTR	NM_018403.5	NP_060873.4	Q9NPI6	DCP1A_HUMAN	decapping mRNA 1A	37					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus	hydrolase activity|protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.000164)|KIRC - Kidney renal clear cell carcinoma(197;0.00525)|Kidney(197;0.00579)|OV - Ovarian serous cystadenocarcinoma(275;0.0647)		GGGGCAGAAGGTGTACAGAGC	0.657000													9	30					0.000274275	0.000293932	1	1	0
OGFOD3	79701	broad.mit.edu	37	17	80373317	80373317	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr17:80373317C>A	ENST00000313056.5	-	2	412	c.261G>T	c.(259-261)gaG>gaT	p.E87D	OGFOD3_ENST00000329197.5_Missense_Mutation_p.E87D	NM_024648.2|NM_175902.4	NP_078924.1|NP_787098.3			2-oxoglutarate and iron-dependent oxygenase domain containing 3																		AGCAGGGCACCTCGATGAATC	0.592000													18	124					2.4624e-09	3.02639e-09	1	1	0
ARSI	340075	broad.mit.edu	37	5	149681814	149681814	+	Silent	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr5:149681814G>T	ENST00000328668.7	-	1	702	c.123C>A	c.(121-123)gcC>gcA	p.A41A		NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I	41						endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding			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)			GGGGCGGAGCGGCCGAGGGCT	0.672000													7	12					5.4927e-09	6.65953e-09	1	1	0
KRTAP27-1	643812	broad.mit.edu	37	21	31709464	31709464	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr21:31709464G>T	ENST00000382835.2	-	1	548	c.523C>A	c.(523-525)Cct>Act	p.P175T		NM_001077711.1	NP_001071179.1	Q3LI81	KR271_HUMAN	keratin associated protein 27-1	175						intermediate filament				endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(1)	18						TTGACCAGAGGTCTACAGGAA	0.468000													27	54					2.27525e-19	3.33337e-19	1	1	0
MATN3	4148	broad.mit.edu	37	2	20200294	20200294	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr2:20200294C>T	ENST00000407540.3	-	5	1138	c.1076G>A	c.(1075-1077)tGt>tAt	p.C359Y	AC079145.4_ENST00000416575.1_RNA|MATN3_ENST00000421259.2_Missense_Mutation_p.C317Y	NM_002381.4	NP_002372.1	O15232	MATN3_HUMAN	matrilin 3	359	EGF-like 3.				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AATGTGCTGACACCCATGGGT	0.393000													11	19					0	0	1	0	0
GALR2	8811	broad.mit.edu	37	17	74072917	74072917	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr17:74072917G>A	ENST00000329003.3	+	2	659	c.569G>A	c.(568-570)tGc>tAc	p.C190Y		NM_003857.2	NP_003848.1	O43603	GALR2_HUMAN	galanin receptor 2	190					digestion|elevation of cytosolic calcium ion concentration|feeding behavior|learning or memory|muscle contraction	integral to membrane|plasma membrane	galanin receptor activity			cervix(1)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						ATGGACATCTGCACCTTCGTC	0.692000													6	57					0	0	1	0	0
SPATA31A6	389730	broad.mit.edu	37	9	43627843	43627843	+	Silent	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr9:43627843G>T	ENST00000332857.6	-	4	872	c.844C>A	c.(844-846)Cgg>Agg	p.R282R	SPATA31A6_ENST00000496386.1_5'UTR	NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6																		TCCTGCCACCGGGAGGAGGCA	0.567000													50	80					1.84395e-34	2.92502e-34	1	1	0
KRTAP1-5	83895	broad.mit.edu	37	17	39182992	39182992	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr17:39182992G>A	ENST00000361883.5	-	1	462	c.416C>T	c.(415-417)aCg>aTg	p.T139M		NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	keratin associated protein 1-5	139	15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].					keratin filament				central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17		Breast(137;0.00043)	STAD - Stomach adenocarcinoma(17;0.000371)			GGATGGGGGCGTGCAGCTCAC	0.672000													17	44					0	0	1	0	0
CHD8	57680	broad.mit.edu	37	14	21899363	21899363	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr14:21899363C>A	ENST00000399982.2	-	1	504	c.440G>T	c.(439-441)aGt>aTt	p.S147I	CHD8_ENST00000557364.1_Missense_Mutation_p.S147I|CHD8_ENST00000555962.1_Intron|CHD8_ENST00000430710.3_Intron	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	147					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|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|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|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)		CCCTCCAGCACTACTGGAGGA	0.552000													11	17					5.50884e-06	6.18744e-06	1	1	0
APOB	338	broad.mit.edu	37	2	21229237	21229237	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr2:21229237C>A	ENST00000233242.1	-	26	10630	c.10503G>T	c.(10501-10503)aaG>aaT	p.K3501N		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3501	Heparin-binding.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GAACCGAACCCTTGACATCTC	0.468000													17	55					5.03518e-11	6.46105e-11	1	1	0
ASB9	140462	broad.mit.edu	37	X	15266947	15266947	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:15266947C>A	ENST00000546332.1	-	7	1162	c.679G>T	c.(679-681)Gcc>Tcc	p.A227S	ASB9_ENST00000473862.1_5'UTR|ASB9_ENST00000380488.4_Missense_Mutation_p.A227S|ASB9_ENST00000380485.3_Missense_Mutation_p.A227S|ASB9_ENST00000380483.3_Missense_Mutation_p.A217S	NM_001168531.1	NP_001162003.1	Q96DX5	ASB9_HUMAN	ankyrin repeat and SOCS box containing 9	227					intracellular signal transduction					breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(10)	15	Hepatocellular(33;0.183)					GCATTCTTGGCCTGGGTGTCC	0.572000													28	55					1.42536e-11	1.84909e-11	1	1	0
TYR	7299	broad.mit.edu	37	11	88911152	88911152	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:88911152T>A	ENST00000263321.5	+	1	533	c.31T>A	c.(31-33)Tgg>Agg	p.W11R	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	11					eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	CTGCCTGCTGTGGAGTTTCCA	0.532000													25	67					0	0	1	0	0
SLC14A1	6563	broad.mit.edu	37	18	43319537	43319537	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr18:43319537T>C	ENST00000321925.4	+	8	1088	c.856T>C	c.(856-858)Tgg>Cgg	p.W286R	SLC14A1_ENST00000589700.1_Silent_p.S236S|RP11-116O18.3_ENST00000586213.1_RNA|SLC14A1_ENST00000591541.1_5'UTR|SLC14A1_ENST00000436407.3_Missense_Mutation_p.W342R|SLC14A1_ENST00000402943.2_Missense_Mutation_p.W181R|SLC14A1_ENST00000502059.2_Missense_Mutation_p.W178R|SLC14A1_ENST00000586142.1_Missense_Mutation_p.W286R|SLC14A1_ENST00000535474.1_Missense_Mutation_p.W154R|RP11-116O18.3_ENST00000589510.1_RNA|SLC14A1_ENST00000415427.3_Missense_Mutation_p.W342R	NM_001128588.3|NM_001146036.2|NM_015865.6	NP_001122060.3|NP_001139508.2|NP_056949.4	Q13336	UT1_HUMAN	solute carrier family 14 (urea transporter), member 1	286						integral to plasma membrane	urea transmembrane transporter activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21						CTTTGGACTCTGGGGTTTCAA	0.532000													10	71					0	0	1	0	0
DPEP1	1800	broad.mit.edu	37	16	89702743	89702743	+	Silent	SNP	C	C	T	rs145941460	byFrequency	TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr16:89702743C>T	ENST00000393092.3	+	4	600	c.309C>T	c.(307-309)gaC>gaT	p.D103D	DPEP1_ENST00000261615.4_Silent_p.D103D|DPEP1_ENST00000421184.1_Silent_p.D103D	NM_004413.3	NP_004404.1	P16444	DPEP1_HUMAN	dipeptidase 1 (renal)	103					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)	AGCAGATGGACGTGGTCCACC	0.647000													6	15					0	0	1	0	0
WDR64	128025	broad.mit.edu	37	1	241920756	241920756	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:241920756A>G	ENST00000366552.2	+	14	2119	c.1912A>G	c.(1912-1914)Act>Gct	p.T638A	WDR64_ENST00000437684.2_Missense_Mutation_p.T638A	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	638										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)			TTCTCAACCTACTGATGTAAG	0.348000													7	31					0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24509739	24509739	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr5:24509739C>A	ENST00000264463.4	-	7	1699	c.1192G>T	c.(1192-1194)Gaa>Taa	p.E398*		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	398	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		GTGCCCACTTCAATATCTTCA	0.393000										HNSCC(23;0.051)			42	78					4.80596e-09	5.83953e-09	1	1	0
OR1N2	138882	broad.mit.edu	37	9	125315590	125315590	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr9:125315590T>A	ENST00000373688.2	+	1	200	c.142T>A	c.(142-144)Ttc>Atc	p.F48I		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	48					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						GTTTGGCATCTTCCTTGGCAT	0.527000													28	73					0	0	1	0	0
TRPV3	162514	broad.mit.edu	37	17	3436101	3436101	+	Silent	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr17:3436101G>A	ENST00000301365.4	-	8	1046	c.915C>T	c.(913-915)acC>acT	p.T305T	TRPV3_ENST00000576742.1_Silent_p.T305T|TRPV3_ENST00000572519.1_Silent_p.T305T			Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	305						integral to membrane	calcium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	CCTCGGCCACGGTCACCAGGG	0.582000													20	19					0	0	1	0	0
FHOD3	80206	broad.mit.edu	37	18	33952676	33952676	+	Silent	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr18:33952676G>A	ENST00000257209.4	+	3	428	c.306G>A	c.(304-306)acG>acA	p.T102T	FHOD3_ENST00000590592.1_Silent_p.T102T|FHOD3_ENST00000445677.1_Silent_p.T102T|FHOD3_ENST00000359247.4_Silent_p.T102T	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	102	GBD/FH3.				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)				TCCTAAGGACGCAGCTGTCTG	0.502000													12	13					0	0	1	0	0
PANK4	55229	broad.mit.edu	37	1	2452731	2452731	+	Silent	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:2452731C>A	ENST00000378466.3	-	3	243	c.231G>T	c.(229-231)ccG>ccT	p.P77P	PANK4_ENST00000491212.1_5'UTR|PANK4_ENST00000435556.3_Silent_p.P77P	NM_018216.1	NP_060686.1	Q9NVE7	PANK4_HUMAN	pantothenate kinase 4	77					coenzyme A biosynthetic process	cytoplasm	ATP binding|pantothenate kinase activity			breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		TCTCATAGGGCGGCTCATGTT	0.542000													34	133					6.90743e-12	8.9973e-12	1	1	0
ADAMTSL4	54507	broad.mit.edu	37	1	150527964	150527964	+	Missense_Mutation	SNP	C	C	T	rs143798746		TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:150527964C>T	ENST00000271643.4	+	8	1530	c.1294C>T	c.(1294-1296)Cgt>Tgt	p.R432C	ADAMTSL4_ENST00000369038.2_Missense_Mutation_p.R432C|ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.R455C|ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.R432C|RP11-54A4.2_ENST00000442435.2_RNA	NM_019032.4	NP_061905.2	Q6UY14	ATL4_HUMAN	ADAMTS-like 4	432					apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	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;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CTTCTATGTCCGTCACACTGA	0.602000													15	31					0	0	1	0	0
NOTCH2	4853	broad.mit.edu	37	1	120502050	120502050	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:120502050T>C	ENST00000256646.2	-	12	2210	c.1991A>G	c.(1990-1992)aAt>aGt	p.N664S		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	664	EGF-like 17; calcium-binding (Potential).				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACTGTAGCGATTAATGCCATC	0.433000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				21	50					0	0	1	0	0
KIAA0195	9772	broad.mit.edu	37	17	73489806	73489806	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr17:73489806G>A	ENST00000314256.7	+	18	2610	c.2216G>A	c.(2215-2217)cGa>cAa	p.R739Q	KIAA0195_ENST00000375248.5_Missense_Mutation_p.R749Q|KIAA0195_ENST00000579208.1_Missense_Mutation_p.R390Q	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	739					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism	p.R739L(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)			TTCTACCAGCGAGCCTGCCTG	0.607000													16	141					0	0	1	0	0
SIX2	10736	broad.mit.edu	37	2	45233522	45233522	+	Silent	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr2:45233522C>T	ENST00000303077.6	-	2	982	c.663G>A	c.(661-663)acG>acA	p.T221T		NM_016932.4	NP_058628.3	Q9NPC8	SIX2_HUMAN	SIX homeobox 2	221						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)				AGTGGTCTGGCGTCCCCGATG	0.652000													8	182					0	0	1	0	0
OR2W5	441932	broad.mit.edu	37	1	247654640	247654640	+	RNA	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:247654640C>T	ENST00000522351.1	+	0	271							A6NFC9	OR2W5_HUMAN							sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	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;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TTTCTTAGATCTCTGCTTTAC	0.532000													15	54					0	0	1	0	0
ATXN2	6311	broad.mit.edu	37	12	111954044	111954044	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr12:111954044G>A	ENST00000377617.3	-	10	1930	c.1769C>T	c.(1768-1770)tCg>tTg	p.S590L	ATXN2_ENST00000535949.1_Missense_Mutation_p.S301L|ATXN2_ENST00000550104.1_Missense_Mutation_p.S590L|ATXN2_ENST00000389153.4_Missense_Mutation_p.S325L|ATXN2_ENST00000542287.2_Missense_Mutation_p.S325L	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	590	Pro-rich.				cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						GGATGGCCGCGAGGGGGGCCT	0.607000													18	20					0	0	1	0	0
CT47B1	643311	broad.mit.edu	37	X	120008940	120008940	+	Silent	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:120008940C>A	ENST00000371311.3	-	1	839	c.585G>T	c.(583-585)tcG>tcT	p.S195S		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	195										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						CCTCCTGGACCGACGCAGCCT	0.706000													14	74					6.31663e-08	7.5123e-08	1	1	0
PPP1R13L	10848	broad.mit.edu	37	19	45899517	45899517	+	Splice_Site	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:45899517C>A	ENST00000418234.2	-	6	890	c.811_splice	c.e6-1	p.R271_splice	PPP1R13L_ENST00000360957.5_Splice_Site_p.R271_splice	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	271	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)		GACGTCCAGGCCTGCGGGGCG	0.667000													14	23					0.00185496	0.00194515	1	1	0
BIN3	55909	broad.mit.edu	37	8	22481545	22481545	+	Silent	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr8:22481545C>A	ENST00000276416.6	-	8	566	c.498G>T	c.(496-498)cgG>cgT	p.R166R	BIN3_ENST00000519335.1_5'UTR|BIN3_ENST00000519513.1_Silent_p.R112R|BIN3_ENST00000399977.4_Silent_p.R118R	NM_018688.4	NP_061158.1	Q9NQY0	BIN3_HUMAN	bridging integrator 3	166	BAR.				actin filament organization|barrier septum formation|cell cycle|protein localization|unidimensional cell growth	cytoplasm|cytoskeleton	cytoskeletal adaptor activity			kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	9		Prostate(55;0.0424)|Breast(100;0.102)|all_epithelial(46;0.143)		BRCA - Breast invasive adenocarcinoma(99;0.00664)|Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		CCCGCACAGGCCGCAGCTCCT	0.617000													10	12					0.00136819	0.0014374	1	1	0
MAGI3	260425	broad.mit.edu	37	1	114193781	114193781	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:114193781G>T	ENST00000369615.1	+	14	2455	c.2393G>T	c.(2392-2394)cGa>cTa	p.R798L	MAGI3_ENST00000307546.9_Missense_Mutation_p.R798L|MAGI3_ENST00000369611.4_Missense_Mutation_p.R798L|MAGI3_ENST00000369617.4_Missense_Mutation_p.R823L	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	823	Interaction with BAI1.|PDZ 4.				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACTGCTGCTCGAAATGGCCAT	0.433000													15	41					1.37285e-15	1.91499e-15	1	1	0
GSTA1	2938	broad.mit.edu	37	6	52661068	52661068	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr6:52661068C>A	ENST00000334575.5	-	4	339	c.184G>T	c.(184-186)Ggg>Tgg	p.G62W	GSTA1_ENST00000493331.1_Intron	NM_145740.3	NP_665683.1	P08263	GSTA1_HUMAN	glutathione S-transferase alpha 1	62	GST N-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)	AGCTTCATCCCATCAATCTCA	0.428000													68	88					2.32099e-22	3.4916e-22	1	1	0
VAT1L	57687	broad.mit.edu	37	16	78005819	78005819	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr16:78005819C>A	ENST00000302536.2	+	8	1303	c.1150C>A	c.(1150-1152)Cca>Aca	p.P384T		NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like	384							oxidoreductase activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						AGAAAAGACCCCAACTCCACT	0.532000											OREG0023950	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	71	102					9.4991e-31	1.49101e-30	1	1	0
OPN5	221391	broad.mit.edu	37	6	47779441	47779441	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr6:47779441T>A	ENST00000489301.2	+	6	1115	c.1030T>A	c.(1030-1032)Tct>Act	p.S344T	OPN5_ENST00000244799.4_3'UTR|OPN5_ENST00000393699.2_Missense_Mutation_p.S344T|OPN5_ENST00000371211.2_Missense_Mutation_p.S344T			Q6U736	OPN5_HUMAN	opsin 5	344					phototransduction|protein-chromophore linkage|visual perception	integral to membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						CAGGAAGTCTTCTGCTGTGCT	0.373000													11	41					0	0	1	0	0
KIAA0754	643314	broad.mit.edu	37	1	39878133	39878133	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:39878133G>T	ENST00000530275.1	+	1	1983	c.1788G>T	c.(1786-1788)gaG>gaT	p.E596D	MACF1_ENST00000545844.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000564288.1_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	596										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)			CACTTTTGGAGGATCAAGCTC	0.483000													22	48					7.33628e-21	1.0912e-20	1	1	0
UBASH3B	84959	broad.mit.edu	37	11	122650349	122650349	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:122650349G>A	ENST00000284273.5	+	4	922	c.547G>A	c.(547-549)Gag>Aag	p.E183K		NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing B	183						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)		AGACAGTGCGGAGGTCCTCAA	0.562000													30	129					0	0	1	0	0
OR5T1	390155	broad.mit.edu	37	11	56043651	56043651	+	Silent	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:56043651C>A	ENST00000313033.2	+	1	623	c.537C>A	c.(535-537)tcC>tcA	p.S179S		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	179					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)					TTAGCCTGTCCTTCTGTGGAT	0.418000													58	153					7.36392e-32	1.16237e-31	1	1	0
TMEM256	254863	broad.mit.edu	37	17	7306508	7306508	+	Silent	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr17:7306508G>A	ENST00000302422.3	-	4	271	c.219C>T	c.(217-219)tcC>tcT	p.S73S	C17orf61-PLSCR3_ENST00000573331.1_Intron|PLSCR3_ENST00000535512.1_Intron	NM_152766.3	NP_689979.1			transmembrane protein 256																		AGGTCGTTCCGGAAGCTAGCA	0.557000													22	40					0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113149586	113149586	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr9:113149586G>T	ENST00000401783.2	-	42	10375	c.10039C>A	c.(10039-10041)Cac>Aac	p.H3347N	SVEP1_ENST00000297826.5_Missense_Mutation_p.H1273N|SVEP1_ENST00000374469.1_Missense_Mutation_p.H3324N	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	3347	Sushi 32.				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						GGGACTGGGTGGCTCCAGGTT	0.473000													29	67					6.38683e-12	8.33372e-12	1	1	0
PRAME	23532	broad.mit.edu	37	22	22893465	22893465	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr22:22893465G>T	ENST00000543184.1	-	3	930	c.68C>A	c.(67-69)cCa>cAa	p.P23Q	PRAME_ENST00000398741.1_Missense_Mutation_p.P23Q|PRAME_ENST00000539862.1_Missense_Mutation_p.P7Q|PRAME_ENST00000402697.1_Missense_Mutation_p.P23Q|PRAME_ENST00000406503.1_Missense_Mutation_p.P23Q|PRAME_ENST00000485532.1_5'UTR|PRAME_ENST00000405655.3_Missense_Mutation_p.P23Q|PRAME_ENST00000398743.2_Missense_Mutation_p.P23Q|PRAME_ENST00000424204.2_Missense_Mutation_p.P7Q	NM_206953.1	NP_996836.1	P78395	PRAME_HUMAN	preferentially expressed antigen in melanoma	23					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)		AAGTCTCCGTGGGCTTGTCCA	0.582000													53	194					4.10029e-35	6.51804e-35	1	1	0
GGT7	2686	broad.mit.edu	37	20	33439059	33439059	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr20:33439059G>A	ENST00000336431.5	-	13	1744	c.1700C>T	c.(1699-1701)gCg>gTg	p.A567V	GGT7_ENST00000469018.1_5'UTR	NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	567					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						GAGGCCCCGCGCAGCTCCATT	0.637000													11	50					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152361993	152361993	+	Splice_Site	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr2:152361993G>T	ENST00000397345.3	-	165	23943	c.23742_splice	c.e165+1	p.S7914_splice	NEB_ENST00000604864.1_Splice_Site_p.S7914_splice|NEB_ENST00000409198.1_Splice_Site_p.S6213_splice|NEB_ENST00000603639.1_Splice_Site_p.S7914_splice|NEB_ENST00000172853.10_Splice_Site_p.S6213_splice|NEB_ENST00000509223.2_Splice_Site_p.S44_splice|NEB_ENST00000427231.2_Splice_Site_p.S7914_splice|NEB_ENST00000498015.2_5'UTR	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	6213					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	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)		GGCCACTACCGAGCTAATGTG	0.483000													50	101					4.78724e-31	7.53e-31	1	1	0
TRRAP	8295	broad.mit.edu	37	7	98574281	98574281	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr7:98574281G>A	ENST00000359863.4	+	54	8323	c.8114G>A	c.(8113-8115)cGg>cAg	p.R2705Q	TRRAP_ENST00000446306.3_Missense_Mutation_p.R2687Q|TRRAP_ENST00000355540.3_Missense_Mutation_p.R2687Q	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2705	FAT.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|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)			CTCTGGTTCCGGTCCACGCTG	0.542000													10	63					0	0	1	0	0
GPC5	2262	broad.mit.edu	37	13	92345680	92345680	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr13:92345680G>A	ENST00000377067.3	+	3	937	c.565G>A	c.(565-567)Gaa>Aaa	p.E189K		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	189						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				CAGTTCCCTGGAATACTCAGA	0.473000													5	99					0	0	1	0	0
GNL2	29889	broad.mit.edu	37	1	38034692	38034692	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:38034692G>A	ENST00000373062.3	-	13	1726	c.1628C>T	c.(1627-1629)tCt>tTt	p.S543F	GNL2_ENST00000462812.1_5'UTR	NM_013285.2	NP_037417.1	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2 (nucleolar)	543					ribosome biogenesis	nucleolus	GTP binding|GTPase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	30		Myeloproliferative disorder(586;0.0393)				GTCATCCCCAGAAAACTGAGG	0.473000													24	61					0	0	1	0	0
CYP11A1	1583	broad.mit.edu	37	15	74659771	74659771	+	Silent	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr15:74659771G>T	ENST00000268053.6	-	1	310	c.156C>A	c.(154-156)ccC>ccA	p.P52P	CYP11A1_ENST00000467407.1_5'UTR|CYP11A1_ENST00000541301.1_Silent_p.P52P	NM_000781.2	NP_000772.2	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1	52					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)	CACCAGGAGAGGGGATCTCAT	0.592000													25	87					5.35356e-11	6.83829e-11	1	1	0
CCL1	6346	broad.mit.edu	37	17	32688864	32688864	+	Missense_Mutation	SNP	G	G	A	rs150891376	byFrequency	TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr17:32688864G>A	ENST00000225842.3	-	2	197	c.128C>T	c.(127-129)cCc>cTc	p.P43L		NM_002981.1	NP_002972.1	P22362	CCL1_HUMAN	chemokine (C-C motif) ligand 1	43					cellular calcium ion homeostasis|chemotaxis|immune response|signal transduction|viral reproduction	extracellular space	chemokine activity						Ovarian(249;0.0443)|Breast(31;0.133)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)|BRCA - Breast invasive adenocarcinoma(366;0.155)		TGCCCTCAGGGGAATCTCTTG	0.473000											OREG0024322	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	63	123					0	0	1	0	0
EXT2	2132	broad.mit.edu	37	11	44129707	44129707	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:44129707C>T	ENST00000395673.3	+	2	600	c.544C>T	c.(544-546)Cgg>Tgg	p.R182W	EXT2_ENST00000529186.1_3'UTR|EXT2_ENST00000343631.3_Missense_Mutation_p.R149W|EXT2_ENST00000533608.1_Missense_Mutation_p.R149W|EXT2_ENST00000358681.4_Missense_Mutation_p.R149W	NM_000401.3	NP_000392.3	Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	149					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						TGACATCAACCGGGCCTGTCT	0.517000			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Hereditary Multiple Exostoses				14	41					0	0	1	0	0
SERPINE3	647174	broad.mit.edu	37	13	51921175	51921175	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr13:51921175G>A	ENST00000524365.1	+	6	1130	c.505G>A	c.(505-507)Gag>Aag	p.E169K	SERPINE3_ENST00000521255.1_Missense_Mutation_p.E169K|SERPINE3_ENST00000400389.4_Missense_Mutation_p.E169K			A8MV23	SERP3_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 3	169					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)	2						GGGCCCCAGTGAGGGCCCTGG	0.567000													5	1					0	0	1	0	0
OR9A2	135924	broad.mit.edu	37	7	142724119	142724119	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr7:142724119T>C	ENST00000350513.2	-	1	163	c.101A>G	c.(100-102)tAt>tGt	p.Y34C		NM_001001658.1	NP_001001658.1	Q8NGT5	OR9A2_HUMAN	olfactory receptor, family 9, subfamily A, member 2	34					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)					TGTCACTAAATAGAAGAAAAA	0.443000													44	50					0	0	1	0	0
COL28A1	340267	broad.mit.edu	37	7	7410418	7410418	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr7:7410418C>T	ENST00000399429.3	-	33	3144	c.3004G>A	c.(3004-3006)Ggg>Agg	p.G1002R		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	1002					cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		CCTGACATCCCAAATCCAGGT	0.373000													13	135					0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168098271	168098271	+	Silent	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr5:168098271G>A	ENST00000519560.1	-	34	4478	c.4059C>T	c.(4057-4059)tgC>tgT	p.C1353C	SLIT3_ENST00000404867.3_Silent_p.C1353C|SLIT3_ENST00000332966.8_Silent_p.C1360C	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1353	EGF-like 7.				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|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout 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)			GGCGGCACTCGCACACCACGC	0.697000													11	29					0	0	1	0	0
ST8SIA3	51046	broad.mit.edu	37	18	55024674	55024674	+	Missense_Mutation	SNP	C	C	A	rs145313732		TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr18:55024674C>A	ENST00000324000.3	+	3	2867	c.833C>A	c.(832-834)cCg>cAg	p.P278Q		NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3	278					glycosphingolipid biosynthetic process|N-glycan processing|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)		CTGGCTTGGCCGGGAAATATA	0.403000													60	66					1.65906e-26	2.55231e-26	1	1	0
OBSCN	84033	broad.mit.edu	37	1	228468281	228468281	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:228468281C>T	ENST00000570156.2	+	35	9342	c.9268C>T	c.(9268-9270)Cgc>Tgc	p.R3090C	OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.R2661C|OBSCN_ENST00000359599.6_Missense_Mutation_p.R1508C|OBSCN_ENST00000422127.1_Missense_Mutation_p.R2661C	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2091	Ig-like 30.				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	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor 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)				CGCAGAGGAGCGCGGCACCCT	0.632000													9	66					0	0	1	0	0
AMDHD2	51005	broad.mit.edu	37	16	2578516	2578516	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr16:2578516G>A	ENST00000302956.4	+	8	1020	c.926G>A	c.(925-927)gGa>gAa	p.G309E	CEMP1_ENST00000382350.1_Intron|AMDHD2_ENST00000413459.3_Missense_Mutation_p.G309E|AMDHD2_ENST00000565570.1_Intron|AMDHD2_ENST00000293971.6_Missense_Mutation_p.G309E			Q9Y303	NAGA_HUMAN	amidohydrolase domain containing 2	309					N-acetylglucosamine metabolic process		N-acetylglucosamine-6-phosphate deacetylase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)|skin(2)|urinary_tract(2)	19						CACACGCTGGGACAGCAGGAA	0.682000													5	52					0	0	1	0	0
ZNF658	26149	broad.mit.edu	37	9	40772501	40772501	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr9:40772501A>T	ENST00000602553.1	-	5	3068	c.2774T>A	c.(2773-2775)gTt>gAt	p.V925D	ZNF658_ENST00000441795.1_Intron|ZNF658_ENST00000377626.3_Missense_Mutation_p.V925D			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	925					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)		ATGTGCACTAACATATGACTT	0.443000													27	162					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126239639	126239639	+	Silent	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr4:126239639G>T	ENST00000394329.3	+	1	2086	c.2073G>T	c.(2071-2073)ccG>ccT	p.P691P		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	691	Cadherin 7.				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						TCTTCTACCCGGTCCAATACT	0.498000													23	66					3.5997e-14	4.91127e-14	1	1	0
CXADR	1525	broad.mit.edu	37	21	18937895	18937895	+	Missense_Mutation	SNP	G	G	A	rs143764073	byFrequency	TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr21:18937895G>A	ENST00000284878.7	+	7	1731	c.983G>A	c.(982-984)cGc>cAc	p.R328H	CXADR_ENST00000400165.1_Missense_Mutation_p.A189T|CXADR_ENST00000306618.10_Missense_Mutation_p.R287H|CXADR_ENST00000400166.1_Missense_Mutation_p.A241T|CXADR_ENST00000400169.1_Missense_Mutation_p.R328H	NM_001338.4	NP_001329.1	P78310	CXAR_HUMAN	coxsackie virus and adenovirus receptor	328					blood coagulation|cell adhesion|interspecies interaction between organisms|leukocyte migration|regulation of immune response	adherens junction|basolateral plasma membrane|extracellular region|integral to plasma membrane|nucleus|tight junction	receptor activity			endometrium(2)|large_intestine(5)|lung(1)|ovary(1)|prostate(2)	11				Epithelial(23;0.000206)|all cancers(11;0.000302)|OV - Ovarian serous cystadenocarcinoma(11;0.0194)|Lung(58;0.0233)|COAD - Colon adenocarcinoma(22;0.0389)|Colorectal(24;0.0483)|LUSC - Lung squamous cell carcinoma(23;0.0782)		GACTTTGAACGCACTCCTCAG	0.488000													10	43					0	0	1	0	0
MFSD2A	84879	broad.mit.edu	37	1	40432551	40432551	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:40432551G>A	ENST00000372809.5	+	8	1056	c.913G>A	c.(913-915)Ggc>Agc	p.G305S	MFSD2A_ENST00000420632.2_Missense_Mutation_p.G136S|MFSD2A_ENST00000372811.5_Missense_Mutation_p.G292S|MFSD2A_ENST00000480630.1_Intron	NM_001136493.1	NP_001129965.1	Q8NA29	MFS2A_HUMAN	major facilitator superfamily domain containing 2A	305					transmembrane transport	endoplasmic reticulum membrane|integral to membrane		p.G292C(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						CATGAGCCACGGCCCATACAT	0.562000													20	129					0	0	1	0	0
ZNF408	79797	broad.mit.edu	37	11	46724532	46724532	+	Splice_Site	SNP	A	A	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:46724532A>T	ENST00000311764.2	+	4	622		c.e4-1			NM_001184751.1|NM_024741.2	NP_001171680.1|NP_079017.1	Q9H9D4	ZN408_HUMAN	zinc finger protein 408						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						TTTGCTTTGCAGCTTGGTACA	0.577000													20	51					0	0	1	0	0
PALD1	27143	broad.mit.edu	37	10	72307198	72307198	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr10:72307198G>C	ENST00000263563.6	+	18	2526	c.2258G>C	c.(2257-2259)cGc>cCc	p.R753P		NM_014431.2	NP_055246.2			phosphatase domain containing, paladin 1																		TGCACCTACCGCCAGGTGAGC	0.647000													9	40					0	0	1	0	0
TUBGCP3	10426	broad.mit.edu	37	13	113153421	113153421	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr13:113153421C>A	ENST00000261965.3	-	20	2572	c.2386G>T	c.(2386-2388)Gct>Tct	p.A796S	TUBGCP3_ENST00000375669.3_Missense_Mutation_p.A796S	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	796					G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	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)					TCTTCCAGAGCAGCTCTGTAT	0.338000													4	75					0.00909568	0.00937143	1	1	0
VDR	7421	broad.mit.edu	37	12	48240119	48240119	+	Splice_Site	SNP	T	T	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr12:48240119T>A	ENST00000229022.3	-	10	1304	c.1024_splice	c.e10+1	p.P341_splice	VDR_ENST00000549336.1_Splice_Site_p.P341_splice|VDR_ENST00000395324.2_Splice_Site_p.P341_splice|VDR_ENST00000550325.1_Splice_Site_p.P391_splice|VDR_ENST00000535672.1_Splice_Site_p.P309_splice	NM_001017535.1	NP_001017535.1	P11473	VDR_HUMAN	vitamin D (1,25- dihydroxyvitamin D3) receptor	341	Ligand-binding.				decidualization|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D 24-hydroxylase activity|regulation of calcidiol 1-monooxygenase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid X receptor binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|vitamin D3 receptor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(3)|skin(2)	22		Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214)		GBM - Glioblastoma multiforme(48;0.17)	Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	GCCCCATACCTGGGGAGACGA	0.597000													6	11					0	0	1	0	0
THEMIS2	9473	broad.mit.edu	37	1	28208808	28208808	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:28208808C>T	ENST00000373921.3	+	4	977	c.973C>T	c.(973-975)Cgg>Tgg	p.R325W	THEMIS2_ENST00000373925.1_Intron|THEMIS2_ENST00000328928.7_Intron|THEMIS2_ENST00000373927.3_Intron	NM_001105556.1	NP_001099026.1			thymocyte selection associated family member 2																		AGGCAAGCTGCGGCGGCGGCC	0.672000													5	26					0	0	1	0	0
SF3A2	8175	broad.mit.edu	37	19	2246936	2246936	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:2246936C>T	ENST00000221494.4	+	7	879	c.461C>T	c.(460-462)gCg>gTg	p.A154V		NM_007165.4	NP_009096.2	Q15428	SF3A2_HUMAN	splicing factor 3a, subunit 2, 66kDa	154					nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex	nucleic acid binding|zinc ion binding	p.A154V(1)		NS(1)|large_intestine(1)|lung(2)	4		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)		TTCATGTCTGCGTACGAGCAG	0.647000													28	45					0	0	1	0	0
MAP7D2	256714	broad.mit.edu	37	X	20033340	20033340	+	Splice_Site	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:20033340C>T	ENST00000379651.3	-	11	1645		c.e11+1		MAP7D2_ENST00000452324.3_Splice_Site|MAP7D2_ENST00000443379.3_Splice_Site|MAP7D2_ENST00000379643.5_Splice_Site|MAP7D2_ENST00000543767.1_Splice_Site	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2											NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						TCAGCCCTTACCTTCTTTCTC	0.478000													11	72					0	0	1	0	0
PCDH8	5100	broad.mit.edu	37	13	53422297	53422297	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr13:53422297C>T	ENST00000377942.3	-	1	478	c.275G>A	c.(274-276)cGc>cAc	p.R92H	PCDH8_ENST00000338862.4_Missense_Mutation_p.R92H	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	92	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)		CAGCCGCTCGCGGTCCAGGCC	0.667000													21	83					0	0	1	0	0
FIBIN	387758	broad.mit.edu	37	11	27016637	27016637	+	Silent	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:27016637G>A	ENST00000318627.2	+	1	1010	c.564G>A	c.(562-564)gaG>gaA	p.E188E		NM_203371.1	NP_976249.1	Q8TAL6	FIBIN_HUMAN	fin bud initiation factor homolog (zebrafish)	188						extracellular region|Golgi apparatus				breast(1)|endometrium(2)|lung(7)|upper_aerodigestive_tract(1)	11						ACAAATACGAGCTGCTGGCCC	0.517000													29	75					0	0	1	0	0
TMEM175	84286	broad.mit.edu	37	4	951686	951686	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr4:951686C>A	ENST00000264771.4	+	11	1102	c.917C>A	c.(916-918)aCc>aAc	p.T306N	TMEM175_ENST00000508204.1_Missense_Mutation_p.T224N|TMEM175_ENST00000515740.1_Missense_Mutation_p.T190N	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	transmembrane protein 175	306						integral to membrane				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CTGAGTGCGACCGGGCCGCGC	0.627000													9	82					3.09899e-07	3.62599e-07	1	1	0
PCDH19	57526	broad.mit.edu	37	X	99551398	99551398	+	Silent	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:99551398G>T	ENST00000373034.4	-	6	4999	c.3324C>A	c.(3322-3324)ccC>ccA	p.P1108P	PCDH19_ENST00000420881.2_Silent_p.P1060P|PCDH19_ENST00000255531.7_Silent_p.P1061P	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	1108					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						CAGCTTCAGAGGGACGAGTAG	0.562000													42	98					4.67007e-22	6.9973e-22	1	1	0
NFXL1	152518	broad.mit.edu	37	4	47892677	47892677	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr4:47892677C>T	ENST00000507489.1	-	12	1672	c.1496G>A	c.(1495-1497)cGg>cAg	p.R499Q	NFXL1_ENST00000381538.3_Missense_Mutation_p.R499Q|NFXL1_ENST00000329043.3_Missense_Mutation_p.R499Q	NM_001278624.1	NP_001265553.1	Q6ZNB6	NFXL1_HUMAN	nuclear transcription factor, X-box binding-like 1	499						integral to membrane|nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						TCCTAAAGTCCGTCCACAGTT	0.363000													5	28					0	0	1	0	0
AIFM3	150209	broad.mit.edu	37	22	21330812	21330812	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr22:21330812G>T	ENST00000399167.2	+	11	1255	c.1015G>T	c.(1015-1017)Gga>Tga	p.G339*	AIFM3_ENST00000465606.1_3'UTR|AIFM3_ENST00000399163.2_Nonsense_Mutation_p.G339*|AIFM3_ENST00000333607.6_Nonsense_Mutation_p.G339*|AIFM3_ENST00000335375.5_Nonsense_Mutation_p.G327*|AIFM3_ENST00000405089.1_Nonsense_Mutation_p.G345*|AIFM3_ENST00000440238.2_Nonsense_Mutation_p.G339*	NM_144704.2	NP_653305.1			apoptosis-inducing factor, mitochondrion-associated, 3											breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-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;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			GGTCGTCGTGGGAGCCGGCTT	0.622000													14	56					1.05317e-09	1.30512e-09	1	1	0
CACNA2D1	781	broad.mit.edu	37	7	81746400	81746400	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr7:81746400C>A	ENST00000356860.3	-	6	824	c.486G>T	c.(484-486)caG>caT	p.Q162H	CACNA2D1_ENST00000423588.1_Missense_Mutation_p.Q162H|CACNA2D1_ENST00000356253.5_Missense_Mutation_p.Q162H	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	162						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	CTGCTGCGTGCTGATAAGATA	0.403000													15	95					6.94344e-10	8.6523e-10	1	1	0
CEACAM5	1048	broad.mit.edu	37	19	42213709	42213709	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:42213709C>A	ENST00000221992.6	+	2	289	c.175C>A	c.(175-177)Ccc>Acc	p.P59T	CEACAM5_ENST00000405816.1_Missense_Mutation_p.P59T|CEA_ENST00000598976.1_Missense_Mutation_p.P59T|CEACAM5_ENST00000398599.4_Missense_Mutation_p.P59T	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	59	Ig-like 1.					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)		CCACAATCTGCCCCAGCATCT	0.498000													37	108					3.93418e-24	5.99482e-24	1	1	0
FER1L6	654463	broad.mit.edu	37	8	125088523	125088523	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr8:125088523C>T	ENST00000522917.1	+	32	4383	c.4177C>T	c.(4177-4179)Cgg>Tgg	p.R1393W	FER1L6_ENST00000399018.1_Missense_Mutation_p.R1393W|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1393	C2 5.					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)			AATCAAAGACCGGGATAAATA	0.433000													59	120					0	0	1	0	0
PRKCG	5582	broad.mit.edu	37	19	54406350	54406350	+	Silent	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:54406350G>A	ENST00000263431.3	+	15	1881	c.1599G>A	c.(1597-1599)ggG>ggA	p.G533G	PRKCG_ENST00000540413.1_Silent_p.G533G|PRKCG_ENST00000542049.1_Silent_p.G420G	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	533	Protein kinase.				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)		AGCCCTATGGGAAGTCTGTCG	0.547000													109	220					0	0	1	0	0
ORAI2	80228	broad.mit.edu	37	7	102079624	102079624	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr7:102079624C>T	ENST00000356387.2	+	3	456	c.221C>T	c.(220-222)gCc>gTc	p.A74V	ORAI2_ENST00000473939.1_Missense_Mutation_p.A74V|ORAI2_ENST00000478730.1_Missense_Mutation_p.A74V|ORAI2_ENST00000488996.1_Intron|ORAI2_ENST00000403646.3_Missense_Mutation_p.A74V	NM_001126340.1|NM_001271818.1|NM_001271819.1|NM_032831.3	NP_001119812.1|NP_001258747.1|NP_001258748.1|NP_116220.1	Q96SN7	ORAI2_HUMAN	ORAI calcium release-activated calcium modulator 2	74						integral to membrane	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15						TCCGGCTTTGCCATGGTGAGT	0.632000													9	34					0	0	1	0	0
LMX1A	4009	broad.mit.edu	37	1	165324791	165324791	+	Silent	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:165324791C>A	ENST00000342310.3	-	2	388	c.6G>T	c.(4-6)ctG>ctT	p.L2L	LMX1A_ENST00000294816.2_Silent_p.L2L|LMX1A_ENST00000367893.4_Silent_p.L2L	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	2						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					TTAGGCCGTCCAGCATGTTCG	0.657000													13	30					0.000219431	0.000236741	1	1	0
GMEB2	26205	broad.mit.edu	37	20	62227055	62227055	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr20:62227055C>T	ENST00000266068.1	-	5	1005	c.527G>A	c.(526-528)cGc>cAc	p.R176H	GMEB2_ENST00000370069.1_Missense_Mutation_p.R125H|GMEB2_ENST00000370077.1_Missense_Mutation_p.R176H			Q9UKD1	GMEB2_HUMAN	glucocorticoid modulatory element binding protein 2	176					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)			CTTTGTGCTGCGGCAGGTGTT	0.622000													4	45					0	0	1	0	0
HSPA13	6782	broad.mit.edu	37	21	15748035	15748035	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr21:15748035C>A	ENST00000285667.3	-	4	753	c.686G>T	c.(685-687)gGa>gTa	p.G229V	HSPA13_ENST00000544452.1_Missense_Mutation_p.G21V	NM_006948.4	NP_008879.3	P48723	HSP13_HUMAN	heat shock protein 70kDa family, member 13	229						endoplasmic reticulum|microsome	ATP binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						ATCTAGAGTTCCTCCGCCCAA	0.488000													39	44					2.66277e-13	3.54877e-13	1	1	0
CDH12	1010	broad.mit.edu	37	5	21752205	21752205	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr5:21752205C>A	ENST00000382254.1	-	15	3112	c.2026G>T	c.(2026-2028)Ggg>Tgg	p.G676W	CDH12_ENST00000522262.1_Missense_Mutation_p.G636W|CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000504376.2_Missense_Mutation_p.G676W|RP11-804N13.1_ENST00000522350.1_RNA	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	676					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						CTCAGAGCCCCGATGTCGAAA	0.468000										HNSCC(59;0.17)			28	138					8.58068e-18	1.23375e-17	1	1	0
PRRG3	79057	broad.mit.edu	37	X	150868585	150868585	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:150868585G>A	ENST00000370353.3	+	3	515	c.125G>A	c.(124-126)aGc>aAc	p.S42N	PRRG3_ENST00000370354.1_Missense_Mutation_p.S50N|PRRG3_ENST00000538575.1_Missense_Mutation_p.S42N			Q9BZD7	TMG3_HUMAN	proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane)	42	Gla.					extracellular region|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24	Acute lymphoblastic leukemia(192;6.56e-05)					GAGATCTGCAGCTACGAGGAG	0.552000													24	56					0	0	1	0	0
OR10X1	128367	broad.mit.edu	37	1	158549524	158549524	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:158549524C>G	ENST00000368150.1	-	1	165	c.166G>C	c.(166-168)Gca>Cca	p.A56P		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	56					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					AGATTACCTGCAAGGGTGAGA	0.453000													17	78					0	0	1	0	0
NUTM2F	54754	broad.mit.edu	37	9	97082562	97082562	+	Silent	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr9:97082562G>A	ENST00000335456.7	-	6	1271	c.1251C>T	c.(1249-1251)gaC>gaT	p.D417D	NUTM2F_ENST00000341207.4_Silent_p.D417D|NUTM2F_ENST00000253262.4_Silent_p.D432D					NUT family member 2F																		AGGTTATCCCGTCCTCTTCCT	0.597000													20	101					0	0	1	0	0
CCKBR	887	broad.mit.edu	37	11	6292377	6292377	+	Silent	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:6292377C>T	ENST00000525462.1	+	4	1158	c.1155C>T	c.(1153-1155)tcC>tcT	p.S385S	CCKBR_ENST00000532715.1_Silent_p.S232S|CCKBR_ENST00000334619.2_Silent_p.S316S|CCKBR_ENST00000532396.1_3'UTR			P32239	GASR_HUMAN	cholecystokinin B receptor	316					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	GGCCGGGATCCGGCTCCCGGC	0.627000													39	86					0	0	1	0	0
SLC26A4	5172	broad.mit.edu	37	7	107323740	107323740	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr7:107323740G>T	ENST00000265715.3	+	7	1083	c.859G>T	c.(859-861)Gaa>Taa	p.E287*		NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	287					regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						GGCAGTTAAGGAATTAAATGA	0.358000									Pendred syndrome				40	56					4.14481e-20	6.10828e-20	1	1	0
NAV1	89796	broad.mit.edu	37	1	201681992	201681992	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:201681992C>T	ENST00000367296.4	+	2	1225	c.805C>T	c.(805-807)Cgg>Tgg	p.R269W	NAV1_ENST00000367302.1_Missense_Mutation_p.R282W|NAV1_ENST00000367300.3_Missense_Mutation_p.R269W|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367297.4_Missense_Mutation_p.R269W|NAV1_ENST00000295624.6_Missense_Mutation_p.R269W	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	269				DLR -> FLW (in Ref. 5; BAA86465).	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						CCTGGATCTCCGGCAGAACCT	0.572000													19	223					0	0	1	0	0
NEDD4L	23327	broad.mit.edu	37	18	55998073	55998073	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr18:55998073A>T	ENST00000456986.1	+	11	1154	c.554A>T	c.(553-555)gAg>gTg	p.E185V	NEDD4L_ENST00000356462.6_Missense_Mutation_p.E306V|NEDD4L_ENST00000431212.2_Missense_Mutation_p.E185V|NEDD4L_ENST00000357895.5_Missense_Mutation_p.E298V|NEDD4L_ENST00000256832.7_Missense_Mutation_p.E185V|NEDD4L_ENST00000256830.9_Missense_Mutation_p.E306V|NEDD4L_ENST00000435432.2_Missense_Mutation_p.E185V|NEDD4L_ENST00000400345.3_Missense_Mutation_p.E306V|NEDD4L_ENST00000382850.4_Missense_Mutation_p.E306V|NEDD4L_ENST00000586263.1_Missense_Mutation_p.E298V|NEDD4L_ENST00000456173.2_Missense_Mutation_p.E185V|NEDD4L_ENST00000589054.1_Intron	NM_001144964.1	NP_001138436.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	306					cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						AGCCCTCAGGAGCTGTCAGAG	0.532000													33	36					0	0	1	0	0
LRRC30	339291	broad.mit.edu	37	18	7231613	7231613	+	Silent	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr18:7231613C>T	ENST00000383467.2	+	1	491	c.477C>T	c.(475-477)ttC>ttT	p.F159F		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	159										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						CTGCATGCTTCGCCGACCTCT	0.562000													19	90					0	0	1	0	0
ING1	3621	broad.mit.edu	37	13	111368348	111368348	+	Silent	SNP	G	G	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr13:111368348G>C	ENST00000375774.3	+	1	1020	c.558G>C	c.(556-558)ccG>ccC	p.P186P	ING1_ENST00000464141.1_Intron|ING1_ENST00000333219.7_Intron|ING1_ENST00000338450.7_Intron|ING1_ENST00000375775.3_Intron	NM_005537.4	NP_005528.3	Q9UK53	ING1_HUMAN	inhibitor of growth family, member 1	186					cell cycle|negative regulation of cell growth|negative regulation of cell proliferation	nucleus	zinc ion binding			endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.188)			GCGCGTGGCCGTGGAAACGTG	0.716000													28	45					0	0	1	0	0
FHOD3	80206	broad.mit.edu	37	18	33935539	33935539	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr18:33935539C>T	ENST00000257209.4	+	2	325	c.203C>T	c.(202-204)gCc>gTc	p.A68V	FHOD3_ENST00000590592.1_Missense_Mutation_p.A68V|FHOD3_ENST00000445677.1_Missense_Mutation_p.A68V|FHOD3_ENST00000359247.4_Missense_Mutation_p.A68V	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	68	GBD/FH3.				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)				CACAATGGCGCCTACCTGGAT	0.542000													15	25					0	0	1	0	0
NRDE2	55051	broad.mit.edu	37	14	90744788	90744788	+	Silent	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr14:90744788G>A	ENST00000354366.3	-	14	3619	c.3387C>T	c.(3385-3387)gcC>gcT	p.A1129A	NRDE2_ENST00000357904.3_Silent_p.A898A	NM_017970.3	NP_060440.2			NRDE-2, necessary for RNA interference, domain containing																		AATACTCCACGGCGTCCAGGT	0.642000													6	83					0	0	1	0	0
KCNS1	3787	broad.mit.edu	37	20	43723800	43723800	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr20:43723800G>A	ENST00000306117.1	-	5	1688	c.1292C>T	c.(1291-1293)aCg>aTg	p.T431M	KCNS1_ENST00000537075.1_Missense_Mutation_p.T431M	NM_002251.3	NP_002242.2	Q96KK3	KCNS1_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 1	431						voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity|protein binding			endometrium(1)|lung(3)|ovary(1)|stomach(1)	6		Myeloproliferative disorder(115;0.0122)				GCCAGCCACCGTCACTGGCAC	0.592000													11	56					0	0	1	0	0
CLEC18B	497190	broad.mit.edu	37	16	74444922	74444922	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr16:74444922C>A	ENST00000339953.5	-	9	1116	c.995G>T	c.(994-996)gGg>gTg	p.G332V		NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN	C-type lectin domain family 18, member B	332	C-type lectin.					extracellular region	sugar binding			endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						GGCCAGCACCCCGCCTTTCCT	0.617000													6	72					3.86212e-05	4.23813e-05	1	1	0
KCNQ2	3785	broad.mit.edu	37	20	62038065	62038065	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr20:62038065G>T	ENST00000354587.3	-	17	2751	c.2575C>A	c.(2575-2577)Ccc>Acc	p.P859T	KCNQ2_ENST00000344462.3_Missense_Mutation_p.P847T|KCNQ2_ENST00000359125.2_Missense_Mutation_p.P851T|KCNQ2_ENST00000359689.1_Missense_Mutation_p.P851T|KCNQ2_ENST00000430658.1_Missense_Mutation_p.P820T|KCNQ2_ENST00000357249.2_Missense_Mutation_p.P833T|KCNQ2_ENST00000360480.3_Missense_Mutation_p.P823T|KCNQ2_ENST00000370224.1_Missense_Mutation_p.P859T|KCNQ2_ENST00000370226.1_Missense_Mutation_p.P821T			O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	851					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)	CGTGGCGGGGGCCCGCACGGG	0.721000													8	10					0.27861	0.279608	1	1	0
POLR3A	11128	broad.mit.edu	37	10	79785864	79785864	+	Silent	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr10:79785864G>A	ENST00000372371.3	-	2	305	c.168C>T	c.(166-168)ctC>ctT	p.L56L		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	56					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)			TCCTATGGTCGAGCACCCCAT	0.547000													15	112					0	0	1	0	0
FRMD4A	55691	broad.mit.edu	37	10	13702398	13702398	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr10:13702398T>C	ENST00000357447.2	-	20	2184	c.1816A>G	c.(1816-1818)Atc>Gtc	p.I606V	FRMD4A_ENST00000378503.1_Missense_Mutation_p.I606V|FRMD4A_ENST00000358621.4_Missense_Mutation_p.I591V	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	606						cytoplasm|cytoskeleton	binding			breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						TTGGGCTTGATGGGTGACTTG	0.557000											OREG0020030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	30	68					0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72821648	72821648	+	Silent	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr16:72821648G>A	ENST00000268489.5	-	10	11199	c.10527C>T	c.(10525-10527)ggC>ggT	p.G3509G	ZFHX3_ENST00000397992.5_Silent_p.G2595G|AC004943.1_ENST00000584072.1_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3509	Poly-Gly.				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)				tgccaccgccgccgccgccgG	0.726000													7	26					0	0	1	0	0
CCDC40	55036	broad.mit.edu	37	17	78022509	78022509	+	Silent	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr17:78022509C>T	ENST00000397545.4	+	5	831	c.804C>T	c.(802-804)gaC>gaT	p.D268D	CCDC40_ENST00000374877.3_Silent_p.D268D|CCDC40_ENST00000269318.5_Silent_p.D268D|CCDC40_ENST00000374876.4_Silent_p.D268D	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	268					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)			AGGGGAGTGACGAGGAAGCAG	0.597000													6	30					0	0	1	0	0
ESYT2	57488	broad.mit.edu	37	7	158580785	158580785	+	Splice_Site	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr7:158580785C>A	ENST00000251527.5	-	6	867		c.e6-1			NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN	extended synaptotagmin-like protein 2							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						TACCATGAATCTAAACTCAAA	0.413000													7	52					0.0293803	0.0299002	1	1	0
INSRR	3645	broad.mit.edu	37	1	156811944	156811944	+	Silent	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:156811944G>A	ENST00000368195.3	-	19	3753	c.3357C>T	c.(3355-3357)cgC>cgT	p.R1119R	NTRK1_ENST00000392302.2_Silent_p.L27L	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	1119	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)					CCATGCAGTTGCGGGCTGCTA	0.557000													5	56					0	0	1	0	0
ADRA1D	146	broad.mit.edu	37	20	4202306	4202306	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr20:4202306C>T	ENST00000379453.4	-	2	1699	c.1583G>A	c.(1582-1584)cGc>cAc	p.R528H		NM_000678.3	NP_000669.1	P25100	ADA1D_HUMAN	adrenoceptor alpha 1D	528				KPPSAFREWRLLGPFRRPTTQLRAKVSSLSHKIRAGGAQRA EAACAQRSEVEAVSLGVPHEVAEGATCQAYELADYSNLRET DI -> SHPAPSASGGCWGRSGDPRPSCAPKSPACRTRSPP GARSAQRQRAPSAQRWRLCP (in Ref. 1).	cell proliferation|cell-cell signaling|DNA metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|multicellular organismal development|positive regulation of cell proliferation	integral to plasma membrane	alpha1-adrenergic receptor activity	p.R528H(1)		endometrium(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	14					Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Methotrimeprazine(DB01403)|Norepinephrine(DB00368)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)	TGCCTCTGCGCGCTGCGCGCC	0.716000													13	42					0	0	1	0	0
IGKV1-5	28299	broad.mit.edu	37	2	89246966	89246966	+	RNA	SNP	G	G	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr2:89246966G>C	ENST00000496168.1	-	0	384																											TATAGATCAGGAGCTTAGGGG	0.527000													53	102					0	0	1	0	0
SERPINH1	871	broad.mit.edu	37	11	75277634	75277634	+	Silent	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:75277634C>T	ENST00000524558.1	+	2	1675	c.240C>T	c.(238-240)ctC>ctT	p.L80L	SERPINH1_ENST00000358171.3_Silent_p.L80L|SERPINH1_ENST00000533603.1_Silent_p.L80L|SERPINH1_ENST00000530284.1_Silent_p.L80L			P50454	SERPH_HUMAN	serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)	80					regulation of proteolysis|response to unfolded protein	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	collagen binding|serine-type endopeptidase inhibitor activity	p.L80L(1)		endometrium(4)|large_intestine(3)|liver(1)|lung(4)|ovary(2)|stomach(1)	15	Ovarian(111;0.11)					CGCTAGGGCTCGTGTCGCTGG	0.706000													5	36					0	0	1	0	0
SLC39A1	27173	broad.mit.edu	37	1	153934720	153934720	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:153934720C>A	ENST00000368623.3	-	2	1053	c.294G>T	c.(292-294)gaG>gaT	p.E98D	SLC39A1_ENST00000368621.1_Missense_Mutation_p.E98D|SLC39A1_ENST00000356205.4_Missense_Mutation_p.E98D|SLC39A1_ENST00000537590.1_Intron|SLC39A1_ENST00000310483.6_Missense_Mutation_p.E98D			Q9NY26	S39A1_HUMAN	solute carrier family 39 (zinc transporter), member 1	98						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)		CTGCCAGGGCCTCATCTATGG	0.592000													83	280					3.83088e-25	5.8573e-25	1	1	0
CCDC58	131076	broad.mit.edu	37	3	122102053	122102053	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr3:122102053C>A	ENST00000291458.5	-	1	25	c.19G>T	c.(19-21)Ggt>Tgt	p.G7C	CCDC58_ENST00000497726.1_Missense_Mutation_p.G7C|CCDC58_ENST00000479899.1_5'UTR	NM_001017928.2	NP_001017928.1	Q4VC31	CCD58_HUMAN	coiled-coil domain containing 58	7										large_intestine(1)|lung(1)	2				GBM - Glioblastoma multiforme(114;0.148)		CAGTTCACACCGCCACTGGGC	0.577000													73	52					4.81439e-37	7.69137e-37	1	1	0
CHST2	9435	broad.mit.edu	37	3	142840271	142840271	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr3:142840271T>C	ENST00000309575.3	+	2	1997	c.613T>C	c.(613-615)Tat>Cat	p.Y205H		NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2	205					inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						GCAAAAACTGTATCCGGGGGA	0.597000													22	137					0	0	1	0	0
MTMR11	10903	broad.mit.edu	37	1	149905761	149905761	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:149905761T>A	ENST00000439741.2	-	8	1008	c.758A>T	c.(757-759)cAg>cTg	p.Q253L	MTMR11_ENST00000406732.3_Missense_Mutation_p.Q225L|MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000361405.6_Intron|MTMR11_ENST00000369140.3_Missense_Mutation_p.Q181L	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	253	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)			TCCACGGCCCTGATGAAAGTG	0.537000													50	165					0	0	1	0	0
PAQR3	152559	broad.mit.edu	37	4	79847761	79847761	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr4:79847761T>C	ENST00000512733.1	-	4	829	c.616A>G	c.(616-618)Atc>Gtc	p.I206V	PAQR3_ENST00000515541.1_5'UTR|PAQR3_ENST00000380645.4_Missense_Mutation_p.I206V|PAQR3_ENST00000295462.3_3'UTR	NM_001040202.1	NP_001035292.1	Q6TCH7	PAQR3_HUMAN	progestin and adipoQ receptor family member III	206						Golgi membrane|integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	8						GAACAAAAGATGATAGAACGG	0.463000													54	120					0	0	1	0	0
CLCN7	1186	broad.mit.edu	37	16	1498742	1498742	+	Missense_Mutation	SNP	A	A	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr16:1498742A>C	ENST00000382745.4	-	20	2428	c.1823T>G	c.(1822-1824)cTg>cGg	p.L608R	CLCN7_ENST00000448525.1_Missense_Mutation_p.L584R|CLCN7_ENST00000262318.8_Missense_Mutation_p.L584R	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7	608						integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				CACACTCTGCAGCTGAATGTG	0.672000													63	74					0	0	1	0	0
PSG8	440533	broad.mit.edu	37	19	43259146	43259146	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:43259146C>A	ENST00000404209.4	-	4	1078	c.982G>T	c.(982-984)Gtc>Ttc	p.V328F	PSG8_ENST00000401467.2_Missense_Mutation_p.V235F|PSG8_ENST00000600709.1_Intron|PSG8_ENST00000306511.4_Missense_Mutation_p.V328F|PSG8_ENST00000406636.3_Missense_Mutation_p.V206F	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	328						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)				TCACAGAGGACATTCAGGGTG	0.488000													48	143					1.78197e-24	2.71901e-24	1	1	0
IGSF3	3321	broad.mit.edu	37	1	117146567	117146567	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:117146567G>A	ENST00000369486.3	-	6	2068	c.1303C>T	c.(1303-1305)Cgc>Tgc	p.R435C	IGSF3_ENST00000369483.1_Missense_Mutation_p.R455C|IGSF3_ENST00000318837.6_Missense_Mutation_p.R455C	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	435	Ig-like C2-type 4.					integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		CCTGCCGTGCGGACACTGCAG	0.617000													34	46					0	0	1	0	0
CSF1R	1436	broad.mit.edu	37	5	149449796	149449796	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr5:149449796C>A	ENST00000286301.3	-	9	1559	c.1268G>T	c.(1267-1269)gGg>gTg	p.G423V		NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	423	Ig-like C2-type 5.				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)	CTGGGGGTACCCAGAGGCAGC	0.602000													10	28					2.17888e-05	2.41344e-05	1	1	0
PGAP1	80055	broad.mit.edu	37	2	197784851	197784851	+	Silent	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr2:197784851C>A	ENST00000354764.3	-	2	285	c.171G>T	c.(169-171)ctG>ctT	p.L57L	PGAP1_ENST00000409188.1_Silent_p.L15L|PGAP1_ENST00000409475.1_Silent_p.L57L|PGAP1_ENST00000485830.1_5'UTR	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	57					attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						AGCGTTTTGCCAGTTTCTTTG	0.348000													12	40					7.93312e-07	9.17689e-07	1	1	0
KLHL25	64410	broad.mit.edu	37	15	86312336	86312336	+	Missense_Mutation	SNP	C	C	T	rs139035411		TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr15:86312336C>T	ENST00000337975.5	-	2	980	c.706G>A	c.(706-708)Gtg>Atg	p.V236M	KLHL25_ENST00000536947.1_Missense_Mutation_p.V236M|KLHL25_ENST00000559131.1_Intron	NM_022480.3	NP_071925.2	Q9H0H3	ENC2_HUMAN	kelch-like family member 25	236						cytoplasm				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	25						GCCAGACGCACGCTGCGGAGG	0.662000													7	25					0	0	1	0	0
NRK	203447	broad.mit.edu	37	X	105153052	105153052	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:105153052G>T	ENST00000428173.2	+	13	1725	c.1422G>T	c.(1420-1422)agG>agT	p.R474S	NRK_ENST00000243300.9_Missense_Mutation_p.R473S			Q7Z2Y5	NRK_HUMAN	Nik related kinase	473	Gln-rich.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						GACTACGGAGGGCAGCCAGGG	0.562000										HNSCC(51;0.14)			7	44					2.0095e-06	2.29496e-06	1	1	0
BPI	671	broad.mit.edu	37	20	36936038	36936038	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr20:36936038G>T	ENST00000262865.4	+	2	301	c.212G>T	c.(211-213)aGc>aTc	p.S71I	CTD-2308N23.2_ENST00000437016.1_RNA	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	71					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)				TACTCAGACAGCTTTAAGATC	0.527000													23	96					5.45024e-15	7.53228e-15	1	1	0
PAPPA2	60676	broad.mit.edu	37	1	176668537	176668537	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:176668537G>T	ENST00000367662.3	+	8	4212	c.3048G>T	c.(3046-3048)aaG>aaT	p.K1016N		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1016					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						TGGATGGGAAGGTGTCGGGGG	0.532000													44	203					6.33695e-27	9.76221e-27	1	1	0
PYGM	5837	broad.mit.edu	37	11	64514188	64514188	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:64514188C>A	ENST00000164139.3	-	20	2870	c.2472G>T	c.(2470-2472)gaG>gaT	p.E824D	PYGM_ENST00000377432.3_Missense_Mutation_p.E736D	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	824					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)	CACCCCAGATCTCCCGGGCAT	0.622000													29	93					2.12542e-12	2.78953e-12	1	1	0
ADAMTS16	170690	broad.mit.edu	37	5	5190086	5190086	+	Silent	SNP	A	A	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr5:5190086A>G	ENST00000274181.7	+	7	1188	c.1050A>G	c.(1048-1050)ccA>ccG	p.P350P	ADAMTS16_ENST00000511368.1_Silent_p.P350P	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	350	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			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						TTGCACAGCCAGGACTGGTGA	0.473000													36	167					0	0	1	0	0
TRPM7	54822	broad.mit.edu	37	15	50904913	50904913	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr15:50904913C>T	ENST00000313478.7	-	16	2165	c.1884G>A	c.(1882-1884)tgG>tgA	p.W628*	TRPM7_ENST00000560955.1_Nonsense_Mutation_p.W628*	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	628					cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		TAAGGCAAGCCCAAATTAAAA	0.388000													29	62					0	0	1	0	0
AGBL1	123624	broad.mit.edu	37	15	86814905	86814905	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr15:86814905G>T	ENST00000441037.2	+	14	2000	c.1905G>T	c.(1903-1905)tgG>tgT	p.W635C	AGBL1_ENST00000421325.2_Missense_Mutation_p.W635C|AGBL1_ENST00000389298.3_Missense_Mutation_p.W366C	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	635					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						AACCCACCTGGATAAGGACAG	0.418000													25	65					3.73808e-20	5.5234e-20	1	1	0
ELK1	2002	broad.mit.edu	37	X	47497454	47497454	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:47497454C>T	ENST00000247161.3	-	4	881	c.782G>A	c.(781-783)gGg>gAg	p.G261E	ELK1_ENST00000343894.4_Intron|ELK1_ENST00000376983.3_Missense_Mutation_p.G261E|ELK1_ENST00000592066.1_Missense_Mutation_p.G207E	NM_005229.4	NP_005220.2	P19419	ELK1_HUMAN	ELK1, member of ETS oncogene family	261					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	10						CCCTCTCTCCCCCGCAACTTC	0.602000													5	28					0	0	1	0	0
ISLR	3671	broad.mit.edu	37	15	74468372	74468372	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr15:74468372C>A	ENST00000249842.3	+	2	1530	c.1173C>A	c.(1171-1173)agC>agA	p.S391R	ISLR_ENST00000395118.1_Missense_Mutation_p.S391R|RP11-665J16.1_ENST00000561647.1_RNA	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN	immunoglobulin superfamily containing leucine-rich repeat	391					cell adhesion	extracellular region				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						TCTACCTCAGCCGTGCTGGGA	0.617000													14	33					0.132662	0.134036	1	1	0
NCOA2	10499	broad.mit.edu	37	8	71041055	71041055	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr8:71041055C>T	ENST00000452400.2	-	17	3666	c.3485G>A	c.(3484-3486)cGg>cAg	p.R1162Q	NCOA2_ENST00000267974.4_Missense_Mutation_p.R250Q	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	1162					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			ATAACTAGGCCGCTGTCCCAT	0.547000			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""								3	38					0	0	1	0	0
DPF2	5977	broad.mit.edu	37	11	65108447	65108447	+	Silent	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:65108447C>T	ENST00000528416.1	+	3	337	c.204C>T	c.(202-204)tcC>tcT	p.S68S	DPF2_ENST00000415073.2_Silent_p.S68S|DPF2_ENST00000252268.4_Silent_p.S68S|DPF2_ENST00000532264.1_3'UTR	NM_006268.4	NP_006259.1	Q92785	REQU_HUMAN	D4, zinc and double PHD fingers family 2	68					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						GATTGGCCTCCGGACAGCTGT	0.522000													6	34					0	0	1	0	0
MAGI3	260425	broad.mit.edu	37	1	114215273	114215273	+	Silent	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:114215273C>A	ENST00000369615.1	+	18	3017	c.2955C>A	c.(2953-2955)tcC>tcA	p.S985S	MAGI3_ENST00000307546.9_Silent_p.S985S|MAGI3_ENST00000369611.4_Silent_p.S985S|MAGI3_ENST00000369617.4_Silent_p.S1010S	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	1010					apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAGATGTCTCCACTTCTTACA	0.433000													52	141					1.38658e-30	2.17489e-30	1	1	0
OR14I1	401994	broad.mit.edu	37	1	248845498	248845498	+	Silent	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:248845498C>T	ENST00000342623.3	-	1	131	c.108G>A	c.(106-108)gtG>gtA	p.V36V		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	36			V -> A (in dbSNP:rs4462184).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						TCCCCACCAGCACTGCCAGAT	0.498000													4	78					0	0	1	0	0
KIFC1	3833	broad.mit.edu	37	6	33374260	33374260	+	Silent	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr6:33374260C>T	ENST00000428849.2	+	8	2274	c.1824C>T	c.(1822-1824)aaC>aaT	p.N608N		NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	608					blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						CCCTGAGCAACAAGGTGGGAA	0.607000													6	50					0	0	1	0	0
PCDH19	57526	broad.mit.edu	37	X	99551399	99551399	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:99551399G>T	ENST00000373034.4	-	6	4998	c.3323C>A	c.(3322-3324)cCc>cAc	p.P1108H	PCDH19_ENST00000420881.2_Missense_Mutation_p.P1060H|PCDH19_ENST00000255531.7_Missense_Mutation_p.P1061H	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	1108					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						AGCTTCAGAGGGACGAGTAGG	0.562000													43	97					7.05121e-23	1.06361e-22	1	1	0
CD244	51744	broad.mit.edu	37	1	160808240	160808240	+	Splice_Site	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:160808240C>T	ENST00000368034.4	-	5	1012		c.e5+1		CD244_ENST00000368032.2_Splice_Site|CD244_ENST00000481677.1_Splice_Site|CD244_ENST00000368033.3_Splice_Site|CD244_ENST00000322302.7_Splice_Site	NM_001166663.1|NM_001166664.1|NM_016382.3	NP_001160135.1|NP_001160136.1|NP_057466.1	Q9BZW8	CD244_HUMAN	CD244 molecule, natural killer cell receptor 2B4						blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			GGATGACATACGTGATTTCTC	0.463000													6	167					0	0	1	0	0
ATR	545	broad.mit.edu	37	3	142238585	142238585	+	Silent	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr3:142238585G>A	ENST00000350721.4	-	24	4429	c.4308C>T	c.(4306-4308)aaC>aaT	p.N1436N	ATR_ENST00000383101.3_Silent_p.N1372N	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	1436					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						GACCTGGGCCGTTGGTCTCCA	0.378000								Other conserved DNA damage response genes					18	99					0	0	1	0	0
OR10H5	284433	broad.mit.edu	37	19	15904957	15904957	+	Silent	SNP	G	G	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:15904957G>C	ENST00000308940.8	+	1	197	c.99G>C	c.(97-99)ctG>ctC	p.L33L		NM_001004466.1	NP_001004466.1	Q8NGA6	O10H5_HUMAN	olfactory receptor, family 10, subfamily H, member 5	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1)	20						TGTTCCTGCTGATGTACCTGT	0.582000													64	143					0	0	1	0	0
WT1	7490	broad.mit.edu	37	11	32456445	32456445	+	Silent	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:32456445C>A	ENST00000332351.3	-	1	731	c.447G>T	c.(445-447)gcG>gcT	p.A149A	WT1_ENST00000448076.3_Silent_p.A149A	NM_024424.3|NM_024426.4	NP_077742.2|NP_077744.3	P19544	WT1_HUMAN	Wilms tumor 1	81					adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.W78fs*1(1)	EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			CGTGCGGCTCCGCGCCGCCCC	0.726000			"""D, Mis, N, F, S"""	EWSR1	"""Wilms, desmoplastic small round cell tumor"""	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome				9	24					0.000673444	0.000712181	1	1	0
CLNK	116449	broad.mit.edu	37	4	10515189	10515189	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr4:10515189G>T	ENST00000226951.6	-	16	1044	c.805C>A	c.(805-807)Cag>Aag	p.Q269K	CLNK_ENST00000515667.1_Missense_Mutation_p.Q7K	NM_052964.2	NP_443196.2	Q7Z7G1	CLNK_HUMAN	cytokine-dependent hematopoietic cell linker	269					immune response|intracellular signal transduction	intracellular	SH3/SH2 adaptor activity			NS(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)	17						TGGCATCTCTGAGGAGAACAG	0.488000													3	11					2.56e-06	2.90591e-06	1	1	0
USP35	57558	broad.mit.edu	37	11	77909055	77909055	+	Silent	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:77909055C>T	ENST00000529308.1	+	3	1008	c.747C>T	c.(745-747)gtC>gtT	p.V249V	USP35_ENST00000441408.2_5'UTR|USP35_ENST00000530535.1_Intron|USP35_ENST00000530267.1_Intron	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	249					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			ATGGTGTTGTCCGGAACCTCA	0.607000													31	88					0	0	1	0	0
RBMX	27316	broad.mit.edu	37	X	135957249	135957249	+	Missense_Mutation	SNP	A	A	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:135957249A>C	ENST00000562646.1	-	8	1015	c.861T>G	c.(859-861)agT>agG	p.S287R	RBMX_ENST00000570135.1_Missense_Mutation_p.S152R|RBMX_ENST00000431446.3_Missense_Mutation_p.V179G|RBMX_ENST00000320676.7_Missense_Mutation_p.S287R|RBMX_ENST00000565438.1_Missense_Mutation_p.S159R			P38159	HNRPG_HUMAN	RNA binding motif protein, X-linked	287						catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					TCTTACCATAACTCTCATATG	0.398000													9	204					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11039115	11039115	+	RNA	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr21:11039115C>A	ENST00000470054.1	-	0	1088									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CTTTCTATAACCAACTGTTCC	0.408000													12	246					5.50884e-06	6.18744e-06	1	1	0
LCE1A	353131	broad.mit.edu	37	1	152800158	152800158	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:152800158C>A	ENST00000335123.2	+	1	210	c.210C>A	c.(208-210)agC>agA	p.S70R		NM_178348.2	NP_848125.1	Q5T7P2	LCE1A_HUMAN	late cornified envelope 1A	70	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)			GCTGCCTGAGCCACCACAGGC	0.697000													25	58					1.1804e-14	1.62431e-14	1	1	0
ASH1L	55870	broad.mit.edu	37	1	155450126	155450126	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:155450126C>A	ENST00000368346.3	-	3	3174	c.2535G>T	c.(2533-2535)agG>agT	p.R845S	ASH1L_ENST00000392403.3_Missense_Mutation_p.R845S			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	845					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|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)			TTTTTAAAGTCCTTTTAGGTG	0.398000													47	221					6.08268e-21	9.0594e-21	1	1	0
RBM14	10432	broad.mit.edu	37	11	66392646	66392646	+	Silent	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:66392646G>T	ENST00000310137.4	+	2	1438	c.1299G>T	c.(1297-1299)gtG>gtT	p.V433V	RBM14_ENST00000409738.4_Intron|RBM4_ENST00000503028.2_Intron|RBM14_ENST00000393979.3_Intron|RBM14-RBM4_ENST00000412278.2_Intron|RBM4_ENST00000514361.3_Intron|RBM14-RBM4_ENST00000500635.2_Intron	NM_006328.3	NP_006319.1	Q96PK6	RBM14_HUMAN	RNA binding motif protein 14	433	Ala-rich.				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	ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging|RNA binding|RNA polymerase II transcription cofactor activity		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						CTGCCTATGTGGCACAGCCAG	0.612000													18	273					1.99824e-07	2.35278e-07	1	1	0
DEFB112	245915	broad.mit.edu	37	6	50011434	50011434	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr6:50011434C>T	ENST00000322246.4	-	2	195	c.196G>A	c.(196-198)Gat>Aat	p.D66N		NM_001037498.1	NP_001032587.1	Q30KQ8	DB112_HUMAN	defensin, beta 112	66					defense response to bacterium	extracellular region				central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.042)					TCACTATCATCACATTGATTT	0.433000													23	45					0	0	1	0	0
CCDC86	79080	broad.mit.edu	37	11	60610350	60610350	+	Silent	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:60610350G>A	ENST00000227520.5	+	1	807	c.753G>A	c.(751-753)aaG>aaA	p.K251K	RP11-804A23.2_ENST00000539897.1_RNA|RP11-804A23.4_ENST00000538705.1_RNA	NM_024098.3	NP_077003.1	Q9H6F5	CCD86_HUMAN	coiled-coil domain containing 86	251					interspecies interaction between organisms	nucleus				endometrium(1)|large_intestine(2)|liver(2)|lung(2)|urinary_tract(3)	10						ACCGCTCCAAGAAAAGGTGAA	0.587000													7	27					0	0	1	0	0
SLC27A5	10998	broad.mit.edu	37	19	59010872	59010872	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:59010872C>T	ENST00000263093.2	-	7	1763	c.1654G>A	c.(1654-1656)Ggg>Agg	p.G552R	SLC27A5_ENST00000601355.1_Missense_Mutation_p.G468R	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	552					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)		AAGGTGTCCCCGAGGCGGTCG	0.667000													17	39					0	0	1	0	0
COL4A6	1288	broad.mit.edu	37	X	107430468	107430468	+	Silent	SNP	A	A	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:107430468A>T	ENST00000394872.2	-	23	2043	c.1812T>A	c.(1810-1812)ccT>ccA	p.P604P	COL4A6_ENST00000538570.1_Silent_p.P603P|COL4A6_ENST00000545689.1_Silent_p.P603P|COL4A6_ENST00000334504.7_Silent_p.P603P|COL4A6_ENST00000372216.4_Silent_p.P604P			Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	604	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						CAGGAAGTCCAGGTAACCCCT	0.502000									Alport syndrome with Diffuse Leiomyomatosis				27	118					0	0	1	0	0
ZC3H14	79882	broad.mit.edu	37	14	89061356	89061356	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr14:89061356G>T	ENST00000555900.1	+	1	598	c.286G>T	c.(286-288)Gaa>Taa	p.E96*	ZC3H14_ENST00000406216.3_Nonsense_Mutation_p.E96*|ZC3H14_ENST00000359301.3_Intron|ZC3H14_ENST00000318308.6_Nonsense_Mutation_p.E96*|ZC3H14_ENST00000557607.1_Intron|ZC3H14_ENST00000251038.5_Intron|ZC3H14_ENST00000302216.8_Intron|ZC3H14_ENST00000556945.1_Intron|ZC3H14_ENST00000393514.5_Intron|ZC3H14_ENST00000555755.1_Intron|ZC3H14_ENST00000336693.4_Intron			Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14	308						cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						AACAACATATGAATGCAACAG	0.328000													15	32					1.52009e-12	2.00209e-12	1	1	0
NAV3	89795	broad.mit.edu	37	12	78400695	78400695	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr12:78400695A>T	ENST00000397909.2	+	8	1550	c.1377A>T	c.(1375-1377)aaA>aaT	p.K459N	NAV3_ENST00000228327.6_Missense_Mutation_p.K459N|NAV3_ENST00000266692.7_Missense_Mutation_p.K459N|NAV3_ENST00000536525.2_Missense_Mutation_p.K459N			Q8IVL0	NAV3_HUMAN	neuron navigator 3	459						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TCAGCAATAAAAAGTCTTTGC	0.408000										HNSCC(70;0.22)			9	90					0	0	1	0	0
ARRDC4	91947	broad.mit.edu	37	15	98509139	98509139	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr15:98509139C>G	ENST00000268042.6	+	3	553	c.389C>G	c.(388-390)tCg>tGg	p.S130W	ARRDC4_ENST00000538249.1_Missense_Mutation_p.S43W	NM_183376.2	NP_899232.2	Q8NCT1	ARRD4_HUMAN	arrestin domain containing 4	130					signal transduction					breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|skin(3)	16	Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222)		OV - Ovarian serous cystadenocarcinoma(32;0.0417)			TTGGTCACCTCGTTTACTGGG	0.408000													24	69					0	0	1	0	0
DISP1	84976	broad.mit.edu	37	1	223156421	223156421	+	Splice_Site	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:223156421G>T	ENST00000284476.6	+	3	673		c.e3-1		DISP1_ENST00000495684.1_Splice_Site	NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)						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)		TTTTTTTTCAGACCATCCAGA	0.303000													4	42					0.184627	0.185704	1	1	0
GDPD2	54857	broad.mit.edu	37	X	69649520	69649520	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:69649520C>A	ENST00000453994.2	+	11	1475	c.1114C>A	c.(1114-1116)Cag>Aag	p.Q372K	GDPD2_ENST00000374382.3_Missense_Mutation_p.Q372K|GDPD2_ENST00000538649.1_Missense_Mutation_p.Q293K|GDPD2_ENST00000536730.1_Missense_Mutation_p.Q293K|GDPD2_ENST00000472623.1_3'UTR	NM_001171192.1	NP_001164663.1	Q9HCC8	GDPD2_HUMAN	glycerophosphodiester phosphodiesterase domain containing 2	372	GDPD.				glycerol metabolic process|lipid metabolic process	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol inositolphosphodiesterase activity|metal ion binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|large_intestine(8)|lung(3)|ovary(2)	22	Renal(35;0.156)					TTTTGTGATCCAGACATTGGA	0.542000													6	33					0.00116845	0.00122986	1	1	0
TAS1R2	80834	broad.mit.edu	37	1	19166999	19166999	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:19166999G>T	ENST00000375371.3	-	6	1635	c.1614C>A	c.(1612-1614)tgC>tgA	p.C538*		NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	538					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		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;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	CGTTATTCGGGCAGGCCTGGC	0.587000													17	30					4.14922e-12	5.42032e-12	1	1	0
LGI2	55203	broad.mit.edu	37	4	25005234	25005234	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr4:25005234C>A	ENST00000382114.4	-	8	1662	c.1477G>T	c.(1477-1479)Gat>Tat	p.D493Y		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	493						extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				TTCTCTTTATCCCACTGGTAT	0.473000													16	89					2.48551e-13	3.3145e-13	1	1	0
ZNF564	163050	broad.mit.edu	37	19	12639413	12639413	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:12639413C>T	ENST00000339282.7	-	2	297	c.101G>A	c.(100-102)cGg>cAg	p.R34Q	CTD-2192J16.20_ENST00000593682.1_3'UTR|ZNF709_ENST00000428311.1_Intron	NM_144976.3	NP_659413.1			zinc finger protein 564									p.R34P(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						AAAGGTTTCCCGCATCACATC	0.438000													9	120					0	0	1	0	0
RNF186	54546	broad.mit.edu	37	1	20141245	20141245	+	Missense_Mutation	SNP	G	G	A	rs148594830		TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:20141245G>A	ENST00000375121.2	-	1	526	c.350C>T	c.(349-351)tCg>tTg	p.S117L	RP11-91K11.2_ENST00000454736.1_RNA	NM_019062.1	NP_061935.1	Q9NXI6	RN186_HUMAN	ring finger protein 186	117						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)		AGGACAGAGCGATACCTCTGT	0.647000													4	125					0	0	1	0	0
TRPV4	59341	broad.mit.edu	37	12	110252298	110252298	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr12:110252298C>T	ENST00000418703.2	-	1	398	c.304G>A	c.(304-306)Gca>Aca	p.A102T	TRPV4_ENST00000261740.2_Missense_Mutation_p.A102T|TRPV4_ENST00000346520.2_Missense_Mutation_p.A102T|TRPV4_ENST00000544971.1_Missense_Mutation_p.A102T|TRPV4_ENST00000541794.1_Missense_Mutation_p.A102T|TRPV4_ENST00000537083.1_Missense_Mutation_p.A102T|TRPV4_ENST00000536838.1_Missense_Mutation_p.A68T|TRPV4_ENST00000392719.2_Missense_Mutation_p.A102T	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	102					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	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain 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						TCCATGGGTGCTTTCTTGGGC	0.547000													11	32					0	0	1	0	0
USP33	23032	broad.mit.edu	37	1	78193978	78193978	+	Splice_Site	SNP	A	A	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:78193978A>G	ENST00000370793.1	-	11	1575		c.e11+1		USP33_ENST00000370792.3_Splice_Site|USP33_ENST00000357428.1_Splice_Site|USP33_ENST00000370794.3_Splice_Site	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33						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	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|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						CTAAATTGTCACCTGAAGCTC	0.323000													20	42					0	0	1	0	0
SH3PXD2B	285590	broad.mit.edu	37	5	171765622	171765622	+	Silent	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr5:171765622G>A	ENST00000311601.5	-	13	2657	c.2487C>T	c.(2485-2487)acC>acT	p.T829T	SH3PXD2B_ENST00000519643.1_Intron	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	829					adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CAATCTTGCCGGTCCCCCATG	0.587000													10	16					0	0	1	0	0
HNF4G	3174	broad.mit.edu	37	8	76471133	76471133	+	Silent	SNP	C	C	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr8:76471133C>G	ENST00000396423.2	+	8	1078	c.954C>G	c.(952-954)tcC>tcG	p.S318S	HNF4G_ENST00000354370.1_Silent_p.S281S	NM_004133.4	NP_004124.4	Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	281					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)			AGTATGACTCCCGGGGGAGGT	0.463000													37	55					0	0	1	0	0
ATP2A1	487	broad.mit.edu	37	16	28898956	28898956	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr16:28898956G>A	ENST00000395503.4	+	8	1025	c.841G>A	c.(841-843)Gac>Aac	p.D281N	ATP2A1_ENST00000536376.1_Missense_Mutation_p.D156N|ATP2A1_ENST00000357084.3_Missense_Mutation_p.D281N	NM_004320.4	NP_004311.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	281					apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|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	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|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			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						CCACTTCAACGACCCCGTCCA	0.572000													30	117					0	0	1	0	0
LRRC37A3	374819	broad.mit.edu	37	17	62893373	62893373	+	Translation_Start_Site	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr17:62893373C>A	ENST00000584306.1	-	3	533	c.3G>T	c.(1-3)atG>atT	p.M1I	RP11-927P21.1_ENST00000584959.1_RNA|LRRC37A3_ENST00000339474.5_Intron|LRRC37A3_ENST00000319651.5_Start_Codon_SNP_p.M1I|RP11-927P21.1_ENST00000584131.1_RNA|LRRC37A3_ENST00000400877.3_Intron	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	1						integral to membrane				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						GAGCGGAAGTCATTCTGGCAG	0.557000													10	193					0.00621372	0.00645547	1	1	0
NTRK3	4916	broad.mit.edu	37	15	88420315	88420315	+	Silent	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr15:88420315G>T	ENST00000394480.1	-	19	2650	c.2329C>A	c.(2329-2331)Cgg>Agg	p.R777R	NTRK3_ENST00000357724.2_Silent_p.R783R|NTRK3_ENST00000355254.2_Silent_p.R777R|NTRK3_ENST00000557856.1_Silent_p.R769R|NTRK3_ENST00000360948.2_Silent_p.R791R	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	791	Protein kinase.				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)			ACTCGGGGCCGCTCCAAAACA	0.527000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			10	39					9.70103e-10	1.20484e-09	1	1	0
TSGA10	80705	broad.mit.edu	37	2	99614673	99614673	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr2:99614673T>C	ENST00000393483.3	-	21	2928	c.2084A>G	c.(2083-2085)tAc>tGc	p.Y695C	TSGA10_ENST00000539964.1_Missense_Mutation_p.Y695C|TSGA10_ENST00000410001.1_Missense_Mutation_p.Y695C|TSGA10_ENST00000355053.4_Missense_Mutation_p.Y695C	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10	695					spermatogenesis	cytoplasm|nuclear membrane				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						GAAATCTCTGTAGCAAAGATT	0.289000													12	34					0	0	1	0	0
SNRNP200	23020	broad.mit.edu	37	2	96955717	96955717	+	Silent	SNP	C	C	A	rs140118056	by1000genomes	TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr2:96955717C>A	ENST00000323853.5	-	21	2837	c.2760G>T	c.(2758-2760)ctG>ctT	p.L920L	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	920	Helicase C-terminal 1.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	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						AGGCATAGCCCAGCCAGTTCA	0.507000													4	79					0.00909568	0.00937143	1	1	0
MYO1E	4643	broad.mit.edu	37	15	59494582	59494582	+	Silent	SNP	C	C	G	rs142116200	byFrequency	TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr15:59494582C>G	ENST00000288235.4	-	16	2040	c.1641G>C	c.(1639-1641)ccG>ccC	p.P547P		NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	547	Myosin head-like.				actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|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)		GCAGATTTTCCGGAAATAAAG	0.408000													28	58					0	0	1	0	0
NEUROD1	4760	broad.mit.edu	37	2	182543231	182543231	+	Silent	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr2:182543231C>A	ENST00000295108.3	-	2	814	c.357G>T	c.(355-357)gcG>gcT	p.A119A	NEUROD1_ENST00000496876.1_Intron|CERKL_ENST00000479558.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	119	Helix-loop-helix motif.				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	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding	p.A119A(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)			TGTCTAGCGCCGCGTTCAGTC	0.542000													11	46					2.80697e-09	3.43296e-09	1	1	0
PTPRJ	5795	broad.mit.edu	37	11	48186026	48186026	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:48186026T>C	ENST00000418331.2	+	24	4166	c.3814T>C	c.(3814-3816)Tat>Cat	p.Y1272H		NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	1272	Tyrosine-protein phosphatase.				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TGGGATTGTGTATGACCTTCG	0.453000													9	56					0	0	1	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43927371	43927371	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr2:43927371G>T	ENST00000282406.4	+	8	1384	c.1274G>T	c.(1273-1275)gGa>gTa	p.G425V		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	425						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)				TCACTCTCTGGAAAAGGAACA	0.443000													45	148					2.77807e-22	4.17362e-22	1	1	0
CAMKV	79012	broad.mit.edu	37	3	49897094	49897094	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr3:49897094G>T	ENST00000477224.1	-	11	1641	c.1163C>A	c.(1162-1164)cCa>cAa	p.P388Q	CAMKV_ENST00000488336.1_Missense_Mutation_p.P357Q|CAMKV_ENST00000463537.1_Missense_Mutation_p.Q320K|CAMKV_ENST00000467248.1_Missense_Mutation_p.P313Q|CAMKV_ENST00000466940.1_Missense_Mutation_p.P314Q|CAMKV_ENST00000296471.7_Missense_Mutation_p.P360Q			Q8NCB2	CAMKV_HUMAN	CaM kinase-like vesicle-associated	388	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)		ATCTGTGGCTGGGGTGGCACT	0.622000													49	63					1.21353e-23	1.84414e-23	1	1	0
AHDC1	27245	broad.mit.edu	37	1	27878268	27878268	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:27878268G>A	ENST00000374011.2	-	6	1327	c.359C>T	c.(358-360)cCa>cTa	p.P120L	AHDC1_ENST00000482400.2_5'UTR|AHDC1_ENST00000247087.5_Missense_Mutation_p.P120L	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	120	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)		CTGCACCACTGGTCGCAGGTT	0.662000													100	225					0	0	1	0	0
BAZ1A	11177	broad.mit.edu	37	14	35264947	35264947	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr14:35264947T>C	ENST00000360310.1	-	10	1720	c.1153A>G	c.(1153-1155)Aag>Gag	p.K385E	BAZ1A_ENST00000382422.2_Missense_Mutation_p.K385E|BAZ1A_ENST00000358716.4_Missense_Mutation_p.K385E	NM_013448.2	NP_038476.2	Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	385					chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		TACTTTCGCTTTTCTTCACGT	0.333000													12	70					0	0	1	0	0
MCAM	4162	broad.mit.edu	37	11	119181508	119181508	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:119181508T>A	ENST00000264036.4	-	14	1765	c.1751A>T	c.(1750-1752)aAg>aTg	p.K584M	MCAM_ENST00000392814.1_3'UTR	NM_006500.2	NP_006491.2	P43121	MUC18_HUMAN	melanoma cell adhesion molecule	584					anatomical structure morphogenesis|cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1)	22		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		CTTGCCCTTCTTATAGAGGAA	0.652000													52	187					0	0	1	0	0
CLSTN2	64084	broad.mit.edu	37	3	140251315	140251315	+	Silent	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr3:140251315C>T	ENST00000458420.3	+	9	1684	c.1494C>T	c.(1492-1494)ggC>ggT	p.G498G		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	498					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi 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						TCACAGTCGGCGCTTGTTGGC	0.443000										HNSCC(16;0.037)			21	66					0	0	1	0	0
STX1B	112755	broad.mit.edu	37	16	31004142	31004142	+	Nonstop_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr16:31004142C>A	ENST00000215095.5	-	10	1098	c.867G>T	c.(865-867)taG>taT	p.*289Y	STX1B_ENST00000565419.1_3'UTR	NM_052874.3	NP_443106.1	P61266	STX1B_HUMAN	syntaxin 1B	0					intracellular protein transport|neurotransmitter transport|synaptic transmission	integral to plasma membrane	extracellular-glutamate-gated ion channel activity|SNAP receptor activity			breast(2)|endometrium(1)|large_intestine(5)|lung(5)	13						TGGGGGGGGCCTACAAGCCCA	0.597000													6	36					0.0477658	0.0485449	1	1	0
EGFR	1956	broad.mit.edu	37	7	55259515	55259515	+	Missense_Mutation	SNP	T	T	G	rs121434568		TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr7:55259515T>G	ENST00000275493.2	+	21	2750	c.2573T>G	c.(2572-2574)cTg>cGg	p.L858R	EGFR_ENST00000455089.1_Missense_Mutation_p.L813R|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Missense_Mutation_p.L805R	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	858	Protein kinase.		L -> M (found in a lung cancer sample).|L -> R (found in a lung cancer sample; somatic mutation; constitutively activated enzyme with strongly increased kinase activity).		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 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 MAP kinase activity|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 stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.L858R(1489)|p.L858Q(1)|p.L858K(1)		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)	GATTTTGGGCTGGCCAAACTG	0.537000	L858R(NCIH1975_LUNG)	8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			59	65					0	0	1	0	0
ZNF521	25925	broad.mit.edu	37	18	22806393	22806393	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr18:22806393G>A	ENST00000361524.3	-	4	1637	c.1489C>T	c.(1489-1491)Cga>Tga	p.R497*	ZNF521_ENST00000584787.1_Nonsense_Mutation_p.R277*|ZNF521_ENST00000538137.2_Nonsense_Mutation_p.R497*	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	497					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	p.R497*(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TGAGAACATCGGATGTGTTCC	0.463000			T	PAX5	ALL								5	73					0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70946630	70946630	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr12:70946630T>A	ENST00000334414.6	-	21	5358	c.5314A>T	c.(5314-5316)Agc>Tgc	p.S1772C	PTPRB_ENST00000550358.1_Missense_Mutation_p.S1684C|PTPRB_ENST00000451516.2_Missense_Mutation_p.S1464C|PTPRB_ENST00000261266.5_Missense_Mutation_p.S1554C|PTPRB_ENST00000538708.1_Missense_Mutation_p.S1464C|PTPRB_ENST00000550857.1_Missense_Mutation_p.S1464C	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1554	Tyrosine-protein phosphatase.				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)			CCACCTAGGCTCTCCATCTCT	0.428000													16	67					0	0	1	0	0
NID2	22795	broad.mit.edu	37	14	52520985	52520985	+	Silent	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr14:52520985G>T	ENST00000216286.5	-	4	821	c.822C>A	c.(820-822)tcC>tcA	p.S274S	NID2_ENST00000541773.1_Silent_p.S221S	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	274						basement membrane	calcium ion binding|collagen binding			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)					TGTCCAACGGGGAAGTGCTGC	0.502000													21	31					1.85244e-09	2.28927e-09	1	1	0
TRPC6	7225	broad.mit.edu	37	11	101343050	101343050	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:101343050A>T	ENST00000344327.3	-	8	2447	c.2023T>A	c.(2023-2025)Ttt>Att	p.F675I	TRPC6_ENST00000348423.4_Missense_Mutation_p.F559I|TRPC6_ENST00000360497.4_Missense_Mutation_p.F620I|TRPC6_ENST00000532133.1_Missense_Mutation_p.F597I	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	675					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		AGTGTCTTAAAACTCTCTTCA	0.299000													6	51					0	0	1	0	0
RFX1	5989	broad.mit.edu	37	19	14073961	14073961	+	Silent	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:14073961G>A	ENST00000254325.4	-	19	2931	c.2697C>T	c.(2695-2697)ggC>ggT	p.G899G		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	899	Necessary for dimerization.				immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			TGGGGGTCTCGCCCTTGGCCT	0.687000													13	34					0	0	1	0	0
OR5B3	441608	broad.mit.edu	37	11	58170604	58170604	+	Missense_Mutation	SNP	A	A	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:58170604A>C	ENST00000309403.2	-	1	278	c.279T>G	c.(277-279)aaT>aaG	p.N93K		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				CAGCACATGCATTGTAAGAGA	0.443000													35	114					0	0	1	0	0
OCRL	4952	broad.mit.edu	37	X	128696582	128696582	+	Nonsense_Mutation	SNP	A	A	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:128696582A>T	ENST00000371113.4	+	12	1228	c.1063A>T	c.(1063-1065)Aaa>Taa	p.K355*	OCRL_ENST00000357121.5_Nonsense_Mutation_p.K355*	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	355					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						ACAGGGAAACAAAGGTGGGGT	0.388000													19	61					0	0	1	0	0
IFI44L	10964	broad.mit.edu	37	1	79107205	79107205	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:79107205C>A	ENST00000370751.4	+	8	1414	c.1235C>A	c.(1234-1236)cCc>cAc	p.P412H	IFI44L_ENST00000342282.3_Missense_Mutation_p.P154H|IFI44L_ENST00000476521.1_3'UTR	NM_006820.2	NP_006811.2	Q53G44	IF44L_HUMAN	interferon-induced protein 44-like	412						cytoplasm				endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	22						GAACTGGACCCCATGAAGGAT	0.418000													26	52					1.55469e-16	2.20568e-16	1	1	0
CELSR3	1951	broad.mit.edu	37	3	48696507	48696507	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr3:48696507G>T	ENST00000544264.1	-	1	3841	c.3561C>A	c.(3559-3561)ttC>ttA	p.F1187L	CELSR3_ENST00000164024.4_Missense_Mutation_p.F1187L			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1187	Cadherin 9.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|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)		TGCCCGACGGGAAGGTGTCTG	0.542000													40	40					1.22674e-20	1.82104e-20	1	1	0
PTCHD2	57540	broad.mit.edu	37	1	11586708	11586708	+	Splice_Site	SNP	G	G	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:11586708G>C	ENST00000294484.6	+	13	2752	c.2613_splice	c.e13-1	p.V872_splice	PTCHD2_ENST00000389575.3_Splice_Site_p.V872_splice	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	872					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)		CACTGCTTAGGTGTATAGAGC	0.602000													88	223					0	0	1	0	0
MEMO1	51072	broad.mit.edu	37	2	32093470	32093470	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr2:32093470C>A	ENST00000295065.4	-	9	1163	c.854G>T	c.(853-855)aGt>aTt	p.S285I	MEMO1_ENST00000404530.1_Missense_Mutation_p.S285I|MEMO1_ENST00000490459.1_5'UTR|DPY30_ENST00000446765.1_5'UTR|MEMO1_ENST00000426310.2_Missense_Mutation_p.S262I|MEMO1_ENST00000379383.3_Missense_Mutation_p.S288I	NM_015955.2	NP_057039.1	Q9Y316	MEMO1_HUMAN	mediator of cell motility 1	285					regulation of microtubule-based process	cytosol|nucleus				NS(1)|breast(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	17	Acute lymphoblastic leukemia(172;0.155)					ACTCACTGAACTGTCTTGCCA	0.483000													8	15					1.12685e-05	1.25998e-05	1	1	0
DNAH3	55567	broad.mit.edu	37	16	20996912	20996912	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr16:20996912C>A	ENST00000261383.3	-	48	7151	c.7152G>T	c.(7150-7152)caG>caT	p.Q2384H	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2384					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)		CCACAGTCAGCTGTTTCAGGT	0.438000													31	117					1.22384e-17	1.75628e-17	1	1	0
PDZD2	23037	broad.mit.edu	37	5	31799453	31799453	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr5:31799453G>C	ENST00000438447.1	+	2	486	c.98G>C	c.(97-99)cGg>cCg	p.R33P	PDZD2_ENST00000282493.3_Missense_Mutation_p.R33P			O15018	PDZD2_HUMAN	PDZ domain containing 2	33					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						CCGGAGCAGCGGCTCTGCCAG	0.622000													38	213					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56347480	56347480	+	Splice_Site	SNP	C	C	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr6:56347480C>G	ENST00000370754.5	-	89	21309		c.e89+1		DST_ENST00000370769.4_Splice_Site|DST_ENST00000446842.2_Splice_Site|DST_ENST00000370788.2_Splice_Site|DST_ENST00000361203.3_Splice_Site|DST_ENST00000312431.6_Splice_Site|DST_ENST00000244364.6_Splice_Site|DST_ENST00000421834.2_Splice_Site			Q03001	DYST_HUMAN	dystonin						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	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|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus 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)			ATGGTTTTTACCTGACGCAGG	0.448000													28	79					0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56539623	56539623	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:56539623A>T	ENST00000390649.3	+	7	2024	c.2024A>T	c.(2023-2025)cAg>cTg	p.Q675L		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	675						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)		TTGGGTCAGCAGCCTAATGCC	0.562000													23	95					0	0	1	0	0
TNC	3371	broad.mit.edu	37	9	117848761	117848761	+	Missense_Mutation	SNP	G	G	A	rs150548325		TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr9:117848761G>A	ENST00000350763.4	-	3	1660	c.1249C>T	c.(1249-1251)Cgc>Tgc	p.R417C	TNC_ENST00000345230.3_Missense_Mutation_p.R417C|TNC_ENST00000340094.3_Missense_Mutation_p.R417C|TNC_ENST00000542877.1_Missense_Mutation_p.R417C|TNC_ENST00000535648.1_Missense_Mutation_p.R417C|TNC_ENST00000341037.4_Missense_Mutation_p.R417C|TNC_ENST00000423613.2_Missense_Mutation_p.R417C|TNC_ENST00000537320.1_Missense_Mutation_p.R417C|TNC_ENST00000346706.3_Missense_Mutation_p.R417C	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	417	EGF-like 9.				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						TTGACACAGCGGCCATGGCCA	0.602000													14	103					0	0	1	0	0
SYTL2	54843	broad.mit.edu	37	11	85445287	85445287	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:85445287G>T	ENST00000316356.4	-	7	1649	c.1085C>A	c.(1084-1086)tCt>tAt	p.S362Y	SYTL2_ENST00000527523.1_Missense_Mutation_p.S313Y|SYTL2_ENST00000524452.1_Missense_Mutation_p.S361Y|SYTL2_ENST00000389960.4_Missense_Mutation_p.S361Y|SYTL2_ENST00000528231.1_Missense_Mutation_p.S361Y			Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	361					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase 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)		CAATCTGTCAGATTCTAAAAC	0.433000													40	125					1.59932e-28	2.48771e-28	1	1	0
NOX1	27035	broad.mit.edu	37	X	100103737	100103737	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:100103737G>T	ENST00000372966.3	-	12	1655	c.1450C>A	c.(1450-1452)Cat>Aat	p.H484N	NOX1_ENST00000372964.1_Intron|NOX1_ENST00000217885.5_Missense_Mutation_p.H435N|NOX1_ENST00000372960.4_Missense_Mutation_p.H447N	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1	484	Interaction with NOXO1.				angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|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	cell junction|early endosome|invadopodium membrane|NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity			cervix(1)|lung(3)|ovary(1)|skin(2)	7						AATGCTGCATGACCAACCTGG	0.473000													20	83					5.03518e-11	6.46105e-11	1	1	0
CEP70	80321	broad.mit.edu	37	3	138289314	138289314	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr3:138289314C>T	ENST00000264982.3	-	6	577	c.311G>A	c.(310-312)cGa>cAa	p.R104Q	CEP70_ENST00000542237.1_Missense_Mutation_p.R84Q|CEP70_ENST00000489254.1_Intron|CEP70_ENST00000484888.1_Missense_Mutation_p.R104Q|CEP70_ENST00000481834.1_Missense_Mutation_p.R104Q|CEP70_ENST00000478673.1_5'UTR|CEP70_ENST00000464035.1_Missense_Mutation_p.R104Q	NM_024491.2	NP_077817.2	Q8NHQ1	CEP70_HUMAN	centrosomal protein 70kDa	104					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						ATTGGCTGCTCGGCTTTGCTC	0.348000													19	43					0	0	1	0	0
NIPAL3	57185	broad.mit.edu	37	1	24785405	24785405	+	Silent	SNP	C	C	T	rs151305924		TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:24785405C>T	ENST00000003912.3	+	10	1270	c.555C>T	c.(553-555)taC>taT	p.Y185Y	NIPAL3_ENST00000339255.2_Silent_p.Y267Y|NIPAL3_ENST00000374399.4_Silent_p.Y267Y			Q6P499	NPAL3_HUMAN	NIPA-like domain containing 3	267						integral to membrane				endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(1)	14						CACAGATGTACGACTCCTCTT	0.468000													3	44					0	0	1	0	0
GPATCH3	63906	broad.mit.edu	37	1	27223872	27223872	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:27223872C>T	ENST00000361720.5	-	2	819	c.796G>A	c.(796-798)Gca>Aca	p.A266T		NM_022078.2	NP_071361.2	Q96I76	GPTC3_HUMAN	G patch domain containing 3	266	Glu-rich.					intracellular	nucleic acid binding			endometrium(2)|large_intestine(1)|lung(11)|skin(1)	15		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)		GGTATATCTGCCAGGTAGGTT	0.522000													87	181					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21639598	21639598	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr7:21639598A>T	ENST00000328843.6	+	15	2892	c.2861A>T	c.(2860-2862)gAg>gTg	p.E954V	DNAH11_ENST00000409508.3_Missense_Mutation_p.E954V			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	954	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						TTGCCTCCTGAGATTGTGTTT	0.408000									Kartagener syndrome				5	39					0	0	1	0	0
UBXN7	26043	broad.mit.edu	37	3	196129880	196129880	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr3:196129880G>A	ENST00000296328.4	-	3	306	c.232C>T	c.(232-234)Cgt>Tgt	p.R78C	UBXN7_ENST00000428095.1_Intron|UBXN7_ENST00000535858.1_5'UTR	NM_015562.1	NP_056377.1	O94888	UBXN7_HUMAN	UBX domain protein 7	78							protein binding			NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						ATTGGGGCACGAACTTCTTCT	0.318000													60	127					0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70509749	70509749	+	Missense_Mutation	SNP	T	T	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:70509749T>G	ENST00000035383.5	+	20	3998	c.3968T>G	c.(3967-3969)tTt>tGt	p.F1323C	LRRC7_ENST00000415775.2_Missense_Mutation_p.F607C|LRRC7_ENST00000310961.5_Intron	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1323						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						AAGTCTAAATTTGATCATCAA	0.388000													7	47					0	0	1	0	0
CTD-2066L21.3	0	broad.mit.edu	37	5	33162816	33162816	+	RNA	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr5:33162816C>A	ENST00000510327.1	-	0	346																											TGCATCGCTTCAAGGCCGGGA	0.473000													13	34					0.000151284	0.000164325	1	1	0
ESYT2	57488	broad.mit.edu	37	7	158580784	158580784	+	Splice_Site	SNP	T	T	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr7:158580784T>A	ENST00000251527.5	-	6	867	c.801_splice	c.e6-1	p.I268_splice		NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN	extended synaptotagmin-like protein 2	296						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						GTACCATGAATCTAAACTCAA	0.413000													7	53					0	0	1	0	0
ATRN	8455	broad.mit.edu	37	20	3553468	3553468	+	Missense_Mutation	SNP	A	A	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr20:3553468A>C	ENST00000262919.5	+	12	2030	c.1962A>C	c.(1960-1962)gaA>gaC	p.E654D	ATRN_ENST00000446916.2_Missense_Mutation_p.E654D	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	654					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						ATCGGAGTGAAGCCGCTTGTT	0.512000													18	70					0	0	1	0	0
FBXO27	126433	broad.mit.edu	37	19	39517531	39517531	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:39517531C>T	ENST00000292853.4	-	5	806	c.687G>A	c.(685-687)tgG>tgA	p.W229*	FBXO27_ENST00000509137.2_Nonsense_Mutation_p.W229*|FBXO27_ENST00000600828.1_Nonsense_Mutation_p.W228*	NM_178820.3	NP_849142.1	Q8NI29	FBX27_HUMAN	F-box protein 27	229	FBA.				protein catabolic process	SCF ubiquitin ligase complex	glycoprotein binding			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|urinary_tract(2)	17	all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			CATTGTTGTTCCACTGCGGGA	0.512000													44	116					0	0	1	0	0
ASB2	51676	broad.mit.edu	37	14	94404126	94404126	+	Silent	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr14:94404126G>A	ENST00000555019.1	-	9	2119	c.1689C>T	c.(1687-1689)taC>taT	p.Y563Y	ASB2_ENST00000315988.4_Silent_p.Y515Y	NM_001202429.1	NP_001189358.1	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	515	SOCS box.				intracellular signal transduction					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		CGTTGCCCACGTAGTCCAGGA	0.592000													13	48					0	0	1	0	0
GUCY2C	2984	broad.mit.edu	37	12	14849223	14849223	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr12:14849223A>T	ENST00000261170.3	-	1	296	c.160T>A	c.(160-162)Ttg>Atg	p.L54M	RP11-174G6.1_ENST00000501178.2_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	54					intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						GCATCTTCCAAGTTTTTCAGG	0.473000													18	38					0	0	1	0	0
KIF1C	10749	broad.mit.edu	37	17	4923973	4923973	+	Splice_Site	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr17:4923973G>A	ENST00000320785.5	+	20	2294	c.1937_splice	c.e20+1	p.R646_splice	KIF1C_ENST00000573815.1_3'UTR	NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	646					microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	endoplasmic reticulum|Golgi apparatus|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						ATGGAGAAGAGGTGCGAGGGG	0.617000													15	11					0	0	1	0	0
SNORD114-28	767609	broad.mit.edu	37	14	101455530	101455530	+	RNA	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr14:101455530G>T	ENST00000363610.1	+	0	64					NR_003221.1																						CTAGAACTCTGAGGTCCATCA	0.388000													59	121					6.60958e-23	9.97664e-23	1	1	0
NRG3	10718	broad.mit.edu	37	10	84118501	84118501	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr10:84118501C>T	ENST00000372142.2	+	3	441	c.167C>T	c.(166-168)aCg>aTg	p.T56M	NRG3_ENST00000372141.2_Missense_Mutation_p.T277M|NRG3_ENST00000404547.1_Missense_Mutation_p.T277M|NRG3_ENST00000556918.1_Missense_Mutation_p.T107M|NRG3_ENST00000404576.2_Missense_Mutation_p.T81M	NM_001165973.1	NP_001159445.1	P56975	NRG3_HUMAN	neuregulin 3	277					regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		ACAGATACGACGACATATTCC	0.517000													13	93					0	0	1	0	0
SDSL	113675	broad.mit.edu	37	12	113875759	113875759	+	Missense_Mutation	SNP	C	C	T	rs113748832		TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr12:113875759C>T	ENST00000403593.4	+	8	1127	c.865C>T	c.(865-867)Cgg>Tgg	p.R289W	SDSL_ENST00000345635.4_Missense_Mutation_p.R289W			Q96GA7	SDSL_HUMAN	serine dehydratase-like	289					cellular amino acid metabolic process		L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|pyridoxal phosphate binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	15					Pyridoxal Phosphate(DB00114)	AGGCCTCCTGCGGAGGCTCCA	0.607000													10	355					0	0	1	0	0
ABCA5	23461	broad.mit.edu	37	17	67247928	67247928	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr17:67247928C>G	ENST00000392676.3	-	35	4559	c.4495G>C	c.(4495-4497)Gtc>Ctc	p.V1499L	ABCA5_ENST00000392677.2_Missense_Mutation_p.V1500L|ABCA5_ENST00000588877.1_Missense_Mutation_p.V1499L			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	1499	ABC transporter 2.				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					CGATCACAGACAGCCTCTGCC	0.443000													55	52					0	0	1	0	0
DAB2IP	153090	broad.mit.edu	37	9	124534910	124534910	+	Silent	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr9:124534910G>A	ENST00000408936.3	+	12	2285	c.2103G>A	c.(2101-2103)ccG>ccA	p.P701P	DAB2IP_ENST00000309989.1_Silent_p.P577P|DAB2IP_ENST00000259371.2_Silent_p.P673P			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	701					activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						CCCGGTTACCGTCTCCAACCC	0.557000													17	123					0	0	1	0	0
OR10G8	219869	broad.mit.edu	37	11	123900696	123900696	+	Silent	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:123900696C>T	ENST00000431524.1	+	1	400	c.367C>T	c.(367-369)Ctg>Ttg	p.L123L		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	123					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		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)		TGATCGCTACCTGGCCATCAG	0.562000													6	222					0	0	1	0	0
PHACTR3	116154	broad.mit.edu	37	20	58416515	58416515	+	Silent	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr20:58416515C>T	ENST00000371015.1	+	11	1979	c.1512C>T	c.(1510-1512)taC>taT	p.Y504Y	PHACTR3_ENST00000541461.1_Silent_p.Y463Y|PHACTR3_ENST00000359926.3_Silent_p.Y501Y|PHACTR3_ENST00000355648.4_Silent_p.Y463Y|PHACTR3_ENST00000395636.2_Silent_p.Y463Y|PHACTR3_ENST00000361300.4_Silent_p.Y393Y|PHACTR3_ENST00000395639.4_Silent_p.Y393Y	NM_080672.3	NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	504	Required for PP1CA binding and inhibition of PP1 activity.					nuclear matrix	actin binding|protein phosphatase inhibitor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			TCAGTGATTACGTGGAAGTAG	0.428000													5	63					0	0	1	0	0
TUBG2	27175	broad.mit.edu	37	17	40817826	40817826	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr17:40817826C>T	ENST00000251412.7	+	8	1023	c.824C>T	c.(823-825)cCg>cTg	p.P275L		NM_016437.2	NP_057521.1	Q9NRH3	TBG2_HUMAN	tubulin, gamma 2	275					G2/M transition of mitotic cell cycle|microtubule-based process|protein polymerization	cytosol	GTP binding|GTPase activity|structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.141)		GGCTACACCCCGCTCACTACA	0.632000													63	168					0	0	1	0	0
BRINP2	57795	broad.mit.edu	37	1	177199078	177199078	+	Silent	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:177199078G>T	ENST00000361539.4	+	2	378	c.66G>T	c.(64-66)ctG>ctT	p.L22L		NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		22						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						GGACAGCCCTGCTGGCACTGG	0.662000													25	83					1.55469e-16	2.20568e-16	1	1	0
C10orf71	118461	broad.mit.edu	37	10	50530945	50530945	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr10:50530945C>T	ENST00000374144.3	+	3	643	c.355C>T	c.(355-357)Cca>Tca	p.P119S	C10orf71_ENST00000323868.4_Missense_Mutation_p.P119S			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	119										endometrium(1)	1						CAGCCCCCCACCAACGCCAGT	0.547000													13	119					0	0	1	0	0
HNRNPU	3192	broad.mit.edu	37	1	245025941	245025941	+	Silent	SNP	A	A	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:245025941A>G	ENST00000444376.2	-	2	960	c.726T>C	c.(724-726)atT>atC	p.I242I	HNRNPU_ENST00000283179.9_Silent_p.I261I	NM_004501.3|NM_031844.2	NP_004492.2|NP_114032.2	Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)	261					CRD-mediated mRNA stabilization	catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	ATP binding|DNA binding|protein binding|RNA binding			NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			TGTTCTCTTCAATGTACTCAA	0.423000													31	244					0	0	1	0	0
RMND5A	64795	broad.mit.edu	37	2	86992221	86992221	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr2:86992221A>G	ENST00000283632.4	+	5	1088	c.593A>G	c.(592-594)tAt>tGt	p.Y198C		NM_022780.3	NP_073617.1	Q9H871	RMD5A_HUMAN	required for meiotic nuclear division 5 homolog A (S. cerevisiae)	198	CTLH.									kidney(1)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	17						CACAGACTGTATTTTATTAGC	0.378000													34	67					0	0	1	0	0
GSK3B	2932	broad.mit.edu	37	3	119582446	119582446	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr3:119582446G>A	ENST00000264235.8	-	9	1898	c.916C>T	c.(916-918)Cga>Tga	p.R306*	GSK3B_ENST00000473886.1_5'UTR|GSK3B_ENST00000316626.5_Nonsense_Mutation_p.R319*	NM_001146156.1|NM_002093.3	NP_001139628.1|NP_002084.2	P49841	GSK3B_HUMAN	glycogen synthase kinase 3 beta	306	Protein kinase.				axon guidance|epithelial to mesenchymal transition|ER overload response|glycogen metabolic process|hippocampus development|negative regulation of apoptosis|negative regulation of protein binding|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|positive regulation of cell-matrix adhesion|positive regulation of protein complex assembly|positive regulation of protein export from nucleus|positive regulation of Rac GTPase activity|regulation of microtubule-based process|superior temporal gyrus development	Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|nucleus|plasma membrane	ATP binding|beta-catenin binding|NF-kappaB binding|p53 binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|RNA polymerase II transcription factor binding|tau-protein kinase activity|ubiquitin protein ligase binding	p.R319*(2)		endometrium(1)|large_intestine(8)|lung(7)|prostate(2)	18				GBM - Glioblastoma multiforme(114;0.24)	Lithium(DB01356)	GTTCGGGGTCGGAAGACCTGC	0.433000													13	26					0	0	1	0	0
NKX2-2	4821	broad.mit.edu	37	20	21492969	21492969	+	Silent	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr20:21492969C>T	ENST00000377142.4	-	2	770	c.414G>A	c.(412-414)gcG>gcA	p.A138A		NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN	NK2 homeobox 2	138					brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						CGTAGGTCTGCGCCTTGGAGA	0.697000													6	31					0	0	1	0	0
MAF	4094	broad.mit.edu	37	16	79633527	79633527	+	Silent	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr16:79633527G>A	ENST00000393350.1	-	1	1084	c.273C>T	c.(271-273)taC>taT	p.Y91Y	MAF_ENST00000569649.1_Silent_p.Y91Y|MAF_ENST00000326043.4_Silent_p.Y91Y	NM_001031804.2	NP_001026974.1	O75444	MAF_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog	91					transcription from RNA polymerase II promoter	chromatin|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)	10		all_epithelial(2;0.139)|Lung NSC(2;0.186)|Melanoma(2;0.211)		UCEC - Uterine corpus endometrioid carcinoma (2;0.0178)		TCATCCAGTAGTAGTCTTCCA	0.701000			T	IGH@	MM								10	11					0	0	1	0	0
ZSCAN1	284312	broad.mit.edu	37	19	58549479	58549479	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:58549479G>T	ENST00000282326.1	+	3	522	c.275G>T	c.(274-276)aGc>aTc	p.S92I	ZSCAN1_ENST00000391700.1_Missense_Mutation_p.S92I|ZSCAN1_ENST00000601162.1_Missense_Mutation_p.S92I	NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	92	SCAN box.				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)		GCGCTGCCCAGCAAGATGCGG	0.682000													4	25					0.00909568	0.00937143	1	1	0
PKD1L2	114780	broad.mit.edu	37	16	81181855	81181855	+	RNA	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr16:81181855G>A	ENST00000525539.1	-	0	4860				PKD1L2_ENST00000533478.1_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						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						TTCGCGACCCGGGGACGGGTG	0.587000													13	40					0	0	1	0	0
HOXA13	3209	broad.mit.edu	37	7	27239030	27239030	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr7:27239030A>T	ENST00000222753.4	-	1	695	c.667T>A	c.(667-669)Tcc>Acc	p.S223T	HOTTIP_ENST00000421733.1_RNA	NM_000522.4	NP_000513.2	P31271	HXA13_HUMAN	homeobox A13	223					skeletal system development	nucleus	sequence-specific DNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	6						TTAGCGCGGGAGCTGAACTCC	0.682000			T	NUP98	AML								32	32					0	0	1	0	0
COTL1	23406	broad.mit.edu	37	16	84623742	84623742	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr16:84623742G>A	ENST00000262428.4	-	3	449	c.287C>T	c.(286-288)aCg>aTg	p.T96M	COTL1_ENST00000564057.1_Missense_Mutation_p.T27M	NM_021149.2	NP_066972.1	Q14019	COTL1_HUMAN	coactosin-like 1 (Dictyostelium)	96	ADF-H.					cytoplasm|cytoskeleton	actin binding|enzyme binding			endometrium(1)|large_intestine(1)|liver(1)|lung(2)|skin(1)	6						GGTCTTGTCCGTCCCGGTTTT	0.602000													11	38					0	0	1	0	0
NFRKB	4798	broad.mit.edu	37	11	129740010	129740010	+	Silent	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:129740010C>A	ENST00000446488.3	-	23	3013	c.2910G>T	c.(2908-2910)ctG>ctT	p.L970L	NFRKB_ENST00000524746.1_Silent_p.L970L|NFRKB_ENST00000524794.1_Silent_p.L995L|NFRKB_ENST00000304521.5_Silent_p.L970L	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	970					DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		GAGTGATTCGCAGAACCGTCT	0.557000													39	117					1.03484e-13	1.39157e-13	1	1	0
KCNK2	3776	broad.mit.edu	37	1	215256769	215256769	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:215256769C>A	ENST00000444842.2	+	1	191	c.41C>A	c.(40-42)gCa>gAa	p.A14E	KCNK2_ENST00000391895.2_Intron|KCNK2_ENST00000391894.2_Intron	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	14							outward rectifier potassium channel activity			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)	GGCTATAGAGCAGGAGGTGAG	0.567000													19	67					3.51602e-12	4.60118e-12	1	1	0
GDF5	8200	broad.mit.edu	37	20	34022221	34022221	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr20:34022221C>T	ENST00000374372.1	-	4	1495	c.992G>A	c.(991-993)cGc>cAc	p.R331H	GDF5_ENST00000374369.3_Missense_Mutation_p.R331H|GDF5OS_ENST00000374375.1_Missense_Mutation_p.R89W			P43026	GDF5_HUMAN	growth differentiation factor 5	331					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)			CCGGGCGGCGCGGTCGAAGCC	0.632000													4	50					0	0	1	0	0
LAMB4	22798	broad.mit.edu	37	7	107748248	107748248	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr7:107748248G>C	ENST00000388781.3	-	6	502	c.419C>G	c.(418-420)gCa>gGa	p.A140G	LAMB4_ENST00000414450.2_Missense_Mutation_p.A140G|LAMB4_ENST00000388780.3_Missense_Mutation_p.A140G|LAMB4_ENST00000205386.4_Missense_Mutation_p.A140G	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	140	Laminin N-terminal.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						AACTAACATTGCAGCAGGCCG	0.363000													25	27					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149515067	149515067	+	RNA	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr7:149515067G>A	ENST00000378016.2	+	0	11457							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCTGGAGCCCGTGGGGCCCGT	0.682000													9	43					0	0	1	0	0
RFFL	117584	broad.mit.edu	37	17	33339091	33339091	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr17:33339091C>A	ENST00000315249.7	-	7	1210	c.988G>T	c.(988-990)Gag>Tag	p.E330*	RFFL_ENST00000584655.1_Nonsense_Mutation_p.E294*|RFFL_ENST00000268850.7_Nonsense_Mutation_p.E294*|RFFL_ENST00000447669.2_Nonsense_Mutation_p.E330*|RFFL_ENST00000415395.2_Nonsense_Mutation_p.E330*|RFFL_ENST00000413582.2_Nonsense_Mutation_p.E322*|RFFL_ENST00000394597.2_Nonsense_Mutation_p.E330*|RFFL_ENST00000378516.2_Nonsense_Mutation_p.E322*|RAD51L3-RFFL_ENST00000593039.1_Nonsense_Mutation_p.E239*			Q8WZ73	RFFL_HUMAN	ring finger and FYVE-like domain containing E3 ubiquitin protein ligase	330					apoptosis	membrane	ligase activity|zinc ion binding			kidney(1)|large_intestine(2)|lung(3)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		TGGCCACACTCCAGAAGAACA	0.522000													20	35					8.34094e-07	9.62878e-07	1	1	0
PLXNC1	10154	broad.mit.edu	37	12	94580196	94580196	+	Silent	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr12:94580196G>T	ENST00000258526.4	+	4	1635	c.1386G>T	c.(1384-1386)tcG>tcT	p.S462S		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	462					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						AATCCTGTTCGGAGTGTTTAA	0.418000													18	31					2.39187e-15	3.32503e-15	1	1	0
PPARGC1B	133522	broad.mit.edu	37	5	149212401	149212401	+	Silent	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr5:149212401G>T	ENST00000309241.5	+	5	797	c.765G>T	c.(763-765)ccG>ccT	p.P255P	PPARGC1B_ENST00000360453.4_Silent_p.P216P|PPARGC1B_ENST00000403750.1_Silent_p.P191P|PPARGC1B_ENST00000394320.3_Silent_p.P255P	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	255					estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			AGGACTGCCCGAGCCCCCAGC	0.697000													21	37					4.35082e-09	5.30662e-09	1	1	0
RAB8A	4218	broad.mit.edu	37	19	16238893	16238893	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:16238893G>T	ENST00000300935.3	+	6	745	c.472G>T	c.(472-474)Gtg>Ttg	p.V158L	CTD-2231E14.8_ENST00000597983.1_RNA|RAB8A_ENST00000586682.1_Missense_Mutation_p.V158L	NM_005370.4	NP_005361.2	P61006	RAB8A_HUMAN	RAB8A, member RAS oncogene family	158					cilium assembly|Golgi vesicle fusion to target membrane|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						CAACATCAATGTGGAAAATGT	0.627000													12	39					4.93089e-13	6.5405e-13	1	1	0
IGLV4-60	28785	broad.mit.edu	37	22	22516909	22516909	+	RNA	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr22:22516909G>T	ENST00000390284.2	+	0	197																											AAGGCCCCTCGGTACTTGATG	0.587000													12	46					4.84862e-15	6.7091e-15	1	1	0
IRX2	153572	broad.mit.edu	37	5	2749778	2749778	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr5:2749778C>G	ENST00000382611.6	-	2	621	c.373G>C	c.(373-375)Gcc>Ccc	p.A125P	IRX2_ENST00000502957.1_5'UTR|IRX2_ENST00000302057.5_Missense_Mutation_p.A125P	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	125						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		GTGGCCGTGGCGTCCCGCGTG	0.647000													25	225					0	0	1	0	0
LRRC37B	114659	broad.mit.edu	37	17	30348928	30348928	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr17:30348928G>T	ENST00000327564.7	+	1	905	c.844G>T	c.(844-846)Gtt>Ttt	p.V282F	LRRC37B_ENST00000543378.2_Missense_Mutation_p.V173F|LRRC37B_ENST00000394713.3_Missense_Mutation_p.V255F|LRRC37B_ENST00000341671.7_Missense_Mutation_p.V255F|LRRC37B_ENST00000584368.1_Missense_Mutation_p.V267F			Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	255						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)				TCCTGAGCAAGTTGGACTTTC	0.517000													52	148					4.6707e-30	7.30061e-30	1	1	0
ZSWIM2	151112	broad.mit.edu	37	2	187703804	187703804	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr2:187703804C>T	ENST00000295131.2	-	4	415	c.376G>A	c.(376-378)Gaa>Aaa	p.E126K		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	126					apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			TGTTCATTTTCGTCATTTGTT	0.403000													51	141					0	0	1	0	0
SCUBE1	80274	broad.mit.edu	37	22	43634903	43634903	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr22:43634903C>A	ENST00000360835.3	-	7	911	c.785G>T	c.(784-786)gGc>gTc	p.G262V	Z82214.2_ENST00000419643.1_RNA|SCUBE1_ENST00000290460.7_Missense_Mutation_p.G292V	NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	262	EGF-like 5 (Potential).|EGF-like 6 (Potential).				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				GCATCGCACGCCAGTGGCTGT	0.597000													6	22					0.0293803	0.0299002	1	1	0
BICD1	636	broad.mit.edu	37	12	32481177	32481177	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr12:32481177G>T	ENST00000548411.1	+	5	1969	c.1788G>T	c.(1786-1788)aaG>aaT	p.K596N	BICD1_ENST00000281474.5_Missense_Mutation_p.K596N	NM_001003398.1	NP_001003398.1	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	596					anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			GTCCAACTAAGACCCCCACAA	0.483000													35	64					6.90743e-12	8.9973e-12	1	1	0
PCDHB7	56129	broad.mit.edu	37	5	140554737	140554737	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr5:140554737C>A	ENST00000231137.3	+	1	2495	c.2321C>A	c.(2320-2322)cCc>cAc	p.P774H		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		774					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AACCTGCTACCCCAGAGCACA	0.468000													15	105					3.41278e-10	4.29085e-10	1	1	0
CHST13	166012	broad.mit.edu	37	3	126260990	126260990	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr3:126260990C>G	ENST00000319340.2	+	3	645	c.595C>G	c.(595-597)Cgc>Ggc	p.R199G		NM_152889.2	NP_690849.1	Q8NET6	CHSTD_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 13	199					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity			central_nervous_system(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(114;0.151)		CTTCCAGAGGCGCTACGGTGC	0.721000													3	6					0	0	1	0	0
HCN4	10021	broad.mit.edu	37	15	73617764	73617764	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr15:73617764T>A	ENST00000261917.3	-	5	2605	c.1612A>T	c.(1612-1614)Atg>Ttg	p.M538L		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	538					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)		TGAAAGGACATGTACTGCTCC	0.657000													44	127					0	0	1	0	0
FAM35A	54537	broad.mit.edu	37	10	88911830	88911830	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr10:88911830C>A	ENST00000298786.4	+	3	833	c.719C>A	c.(718-720)aCa>aAa	p.T240K	FAM35A_ENST00000298784.1_Missense_Mutation_p.T240K			Q86V20	FA35A_HUMAN	family with sequence similarity 35, member A	240								p.T240K(2)		endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						TCAACTGATACAGAATTTCTC	0.388000													4	52					0.150653	0.15194	1	1	0
UPK1A	11045	broad.mit.edu	37	19	36164163	36164163	+	Silent	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:36164163C>A	ENST00000222275.2	+	3	315	c.315C>A	c.(313-315)atC>atA	p.I105I	UPK1A-AS1_ENST00000443196.1_RNA|UPK1A_ENST00000379013.2_Silent_p.I105I	NM_007000.2	NP_008931.1	O00322	UPK1A_HUMAN	uroplakin 1A	105					epithelial cell differentiation|protein oligomerization	endoplasmic reticulum|integral to membrane	monosaccharide binding|protein homodimerization activity			breast(1)|large_intestine(4)|lung(2)|stomach(2)	9	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TCGTCTACATCTTCGAGTGCG	0.662000													44	102					5.57489e-27	8.59415e-27	1	1	0
BIN1	274	broad.mit.edu	37	2	127819726	127819726	+	Silent	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr2:127819726G>A	ENST00000316724.5	-	10	1233	c.822C>T	c.(820-822)caC>caT	p.H274H	BIN1_ENST00000352848.3_Silent_p.H243H|BIN1_ENST00000351659.3_Silent_p.H274H|BIN1_ENST00000348750.4_Silent_p.H243H|BIN1_ENST00000376113.2_Silent_p.H243H|BIN1_ENST00000393040.3_Silent_p.H243H|BIN1_ENST00000466111.1_5'UTR|BIN1_ENST00000357970.3_Silent_p.H274H|BIN1_ENST00000393041.3_Silent_p.H243H|BIN1_ENST00000409400.1_Silent_p.H243H|BIN1_ENST00000259238.4_Silent_p.H243H|BIN1_ENST00000346226.3_Silent_p.H243H	NM_139343.2	NP_647593.1	O00499	BIN1_HUMAN	bridging integrator 1	274	BAR.				cell proliferation|endocytosis|interspecies interaction between organisms|multicellular organismal development	actin cytoskeleton|nucleus				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)	24	Colorectal(110;0.0831)			BRCA - Breast invasive adenocarcinoma(221;0.073)		TGTTGCTCCCGTGTTGCTTCT	0.657000													6	9					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168105180	168105180	+	Missense_Mutation	SNP	A	A	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr2:168105180A>C	ENST00000409195.1	+	9	7367	c.7278A>C	c.(7276-7278)aaA>aaC	p.K2426N	XIRP2_ENST00000295237.9_Missense_Mutation_p.K2426N|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.K2204N|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2251					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						CATTGCCCAAACCCAAACTTC	0.408000													19	142					0	0	1	0	0
C22orf29	79680	broad.mit.edu	37	22	19839606	19839606	+	Missense_Mutation	SNP	G	G	A	rs143706825	byFrequency	TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr22:19839606G>A	ENST00000405640.1	-	2	847	c.179C>T	c.(178-180)aCg>aTg	p.T60M	GNB1L_ENST00000403325.1_Intron|C22orf29_ENST00000328554.4_Missense_Mutation_p.T60M|GNB1L_ENST00000405009.1_Intron|C22orf29_ENST00000484072.1_Intron|C22orf29_ENST00000407472.1_Missense_Mutation_p.T60M|GNB1L_ENST00000460402.1_Intron|GNB1L_ENST00000329517.6_Intron			Q7L3V2	CV029_HUMAN	chromosome 22 open reading frame 29	60										NS(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	7	Colorectal(54;0.0993)					CTCCATGGTCGTTCGCACACA	0.627000													15	126					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168105801	168105801	+	Silent	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr2:168105801G>T	ENST00000409195.1	+	9	7988	c.7899G>T	c.(7897-7899)tcG>tcT	p.S2633S	XIRP2_ENST00000295237.9_Silent_p.S2633S|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Silent_p.S2411S|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2458					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						CCACAACATCGCCAGAAACAG	0.443000													33	69					9.04072e-19	1.31251e-18	1	1	0
PLXDC1	57125	broad.mit.edu	37	17	37265552	37265552	+	Silent	SNP	C	C	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr17:37265552C>G	ENST00000315392.4	-	3	559	c.348G>C	c.(346-348)cgG>cgC	p.R116R	PLXDC1_ENST00000539608.1_Silent_p.R43R|PLXDC1_ENST00000493200.1_5'UTR|PLXDC1_ENST00000444911.2_Silent_p.R76R|PLXDC1_ENST00000394316.2_Silent_p.R116R	NM_020405.4	NP_065138.2	Q8IUK5	PXDC1_HUMAN	plexin domain containing 1	116					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						TCACTTGGCTCCGGTTGGCCT	0.637000													10	20					0	0	1	0	0
OR2M2	391194	broad.mit.edu	37	1	248343921	248343921	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:248343921G>T	ENST00000359682.2	+	1	634	c.634G>T	c.(634-636)Gca>Tca	p.A212S		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	212					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)			TTTCCCTGTTGCAATCATCAT	0.428000													64	211					1.48005e-37	2.36956e-37	1	1	0
SEC22B	9554	broad.mit.edu	37	1	145116041	145116041	+	RNA	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:145116041G>T	ENST00000453618.1	+	0	1127							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding										GAAAATGAAAGGTTGCACCTC	0.413000													4	20					0.00909568	0.00937143	1	1	0
STOML1	9399	broad.mit.edu	37	15	74284505	74284505	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr15:74284505C>A	ENST00000316900.5	-	1	184	c.60G>T	c.(58-60)caG>caT	p.Q20H	STOML1_ENST00000564777.1_Missense_Mutation_p.Q20H|STOML1_ENST00000561656.1_Intron|STOML1_ENST00000359750.4_Missense_Mutation_p.Q20H|STOML1_ENST00000541638.1_5'UTR|STOML1_ENST00000316911.6_Missense_Mutation_p.Q20H	NM_001256672.1|NM_001256675.1|NM_001256677.1|NM_004809.4	NP_001243601.1|NP_001243604.1|NP_001243606.1|NP_004800.2	Q9UBI4	STML1_HUMAN	stomatin (EPB72)-like 1	20						integral to membrane	sterol binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						CGAAGCTCGACTGCTGGAAGC	0.716000													10	28					2.17888e-05	2.41344e-05	1	1	0
TMTC1	83857	broad.mit.edu	37	12	29786207	29786207	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr12:29786207A>T	ENST00000256062.5	-	6	1150	c.677T>A	c.(676-678)cTg>cAg	p.L226Q	TMTC1_ENST00000552618.1_Missense_Mutation_p.L396Q|TMTC1_ENST00000381224.2_Missense_Mutation_p.L288Q|TMTC1_ENST00000539277.1_Missense_Mutation_p.L334Q|TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000551659.1_Missense_Mutation_p.L396Q	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	334						integral to membrane	binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					GTCATAGCACAGGGTCACGGG	0.493000													8	92					0	0	1	0	0
SPINK14	408187	broad.mit.edu	37	5	147549355	147549355	+	Silent	SNP	A	A	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr5:147549355A>G	ENST00000356972.1	+	1	60	c.60A>G	c.(58-60)ttA>ttG	p.L20L	SPINK14_ENST00000562793.1_Silent_p.L20L	NM_001001325.1	NP_001001325.1	Q6IE38	ISK14_HUMAN	serine peptidase inhibitor, Kazal type 14 (putative)	20						extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|large_intestine(1)|lung(1)	3						ATTTGGTGTTATCTTCTGGTG	0.373000													13	6					0	0	1	0	0
SLC22A2	6582	broad.mit.edu	37	6	160666477	160666477	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr6:160666477T>C	ENST00000366952.1	-	8	2476	c.995A>G	c.(994-996)tAc>tGc	p.Y332C	SLC22A2_ENST00000491092.1_5'UTR|SLC22A2_ENST00000366953.3_Missense_Mutation_p.Y353C			O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	353					body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		TTACCAGTTGTACATCAATAT	0.388000													5	19					0	0	1	0	0
CLPTM1L	81037	broad.mit.edu	37	5	1318499	1318499	+	Silent	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr5:1318499C>T	ENST00000320895.5	-	17	1859	c.1602G>A	c.(1600-1602)gcG>gcA	p.A534A	CLPTM1L_ENST00000507807.1_Silent_p.A365A|CLPTM1L_ENST00000320927.6_Silent_p.A498A|CLPTM1L_ENST00000506641.1_5'UTR	NM_030782.3	NP_110409.2	Q96KA5	CLP1L_HUMAN	CLPTM1-like	534					apoptosis	integral to membrane		p.A534A(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)		CCGTGTGGGGCGCCCGCGTGG	0.522000													13	171					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215848285	215848285	+	Missense_Mutation	SNP	A	A	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:215848285A>C	ENST00000366943.2	-	63	13354	c.12968T>G	c.(12967-12969)cTt>cGt	p.L4323R	USH2A_ENST00000307340.3_Missense_Mutation_p.L4323R			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4323	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			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)		AAAAGGAAGAAGCTCTTCATC	0.458000										HNSCC(13;0.011)			7	111					0	0	1	0	0
OR13C8	138802	broad.mit.edu	37	9	107331771	107331771	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr9:107331771G>T	ENST00000335040.1	+	1	323	c.323G>T	c.(322-324)gGg>gTg	p.G108V		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	108					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						TTTGCCATGGGGGCCACGGAG	0.493000													34	84					4.3181e-19	6.29746e-19	1	1	0
NLGN4X	57502	broad.mit.edu	37	X	5821336	5821336	+	Silent	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:5821336C>T	ENST00000381095.3	-	5	2010	c.1383G>A	c.(1381-1383)gcG>gcA	p.A461A	NLGN4X_ENST00000275857.6_Silent_p.A461A|NLGN4X_ENST00000538097.1_Silent_p.A461A|NLGN4X_ENST00000381093.2_Silent_p.A481A|NLGN4X_ENST00000381092.1_Silent_p.A461A	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	461					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						AGCCGTACTGCGCGTGCAGGT	0.617000													11	48					0	0	1	0	0
GABRQ	55879	broad.mit.edu	37	X	151815582	151815582	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:151815582T>A	ENST00000370306.2	+	4	500	c.480T>A	c.(478-480)aaT>aaA	p.N160K		NM_018558.2	NP_061028.2	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	160						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					CTGTGGAGAATCGCGTGTTTC	0.542000													24	41					0	0	1	0	0
OR4L1	122742	broad.mit.edu	37	14	20528383	20528383	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr14:20528383C>A	ENST00000315683.1	+	1	180	c.180C>A	c.(178-180)taC>taA	p.Y60*		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	60					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)		CTCCCTTGTACTTTCTCCTTG	0.438000													42	83					2.95478e-19	4.31482e-19	1	1	0
NDC1	55706	broad.mit.edu	37	1	54266523	54266523	+	Splice_Site	SNP	T	T	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:54266523T>A	ENST00000371429.3	-	11	1665		c.e11-2		NDC1_ENST00000234725.8_Splice_Site|NDC1_ENST00000537333.1_Splice_Site|NDC1_ENST00000540001.1_Splice_Site	NM_001168551.1|NM_018087.4	NP_001162023.1|NP_060557.3			NDC1 transmembrane nucleoporin																		GATGTCCACCTAGGAGGTCCA	0.393000													9	41					0	0	1	0	0
LILRB1	10859	broad.mit.edu	37	19	55144177	55144177	+	Silent	SNP	G	G	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:55144177G>C	ENST00000396331.1	+	7	1281	c.924G>C	c.(922-924)tcG>tcC	p.S308S	LILRB1_ENST00000396321.2_Silent_p.S308S|LILRB1_ENST00000418536.2_Silent_p.S308S|LILRB1_ENST00000434867.2_Silent_p.S308S|LILRB1_ENST00000324602.7_Silent_p.S308S|LILRB1_ENST00000427581.2_Silent_p.S344S|LILRB1_ENST00000396327.3_Silent_p.S308S|LILRB1_ENST00000396315.1_Silent_p.S308S|LILRB1_ENST00000396317.1_Silent_p.S308S|LILRB1_ENST00000396332.4_Silent_p.S308S|LILRB1_ENST00000448689.1_Silent_p.S308S	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	308	Ig-like C2-type 3.				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)		CCGAGTGGTCGGCCCCCAGCG	0.687000										HNSCC(37;0.09)			4	75					0	0	1	0	0
PRB3	5544	broad.mit.edu	37	12	11420916	11420916	+	RNA	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr12:11420916G>T	ENST00000381842.3	-	0	304				PRB3_ENST00000538488.1_RNA|PRB3_ENST00000440870.3_RNA|PRB3_ENST00000279573.6_RNA	NM_006249.4	NP_006240.4	Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3							extracellular region	Gram-negative bacterial cell surface binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			GGGGACCTTGGGACTGGTTTC	0.627000													65	215					5.89852e-23	8.92136e-23	1	1	0
BICD1	636	broad.mit.edu	37	12	32480435	32480435	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr12:32480435A>T	ENST00000548411.1	+	5	1227	c.1046A>T	c.(1045-1047)gAg>gTg	p.E349V	BICD1_ENST00000281474.5_Missense_Mutation_p.E349V	NM_001003398.1	NP_001003398.1	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	349					anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			AACCTACAGGAGTCACAGACA	0.532000													22	58					0	0	1	0	0
FAM110C	642273	broad.mit.edu	37	2	45614	45614	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr2:45614T>C	ENST00000327669.4	-	1	771	c.772A>G	c.(772-774)Agc>Ggc	p.S258G		NM_001077710.2	NP_001071178.2	Q1W6H9	F110C_HUMAN	family with sequence similarity 110, member C	258						microtubule|microtubule organizing center|spindle pole				central_nervous_system(1)|kidney(1)|lung(2)	4	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00221)		all cancers(51;0.000815)|Epithelial(75;0.00379)|OV - Ovarian serous cystadenocarcinoma(76;0.0127)|GBM - Glioblastoma multiforme(21;0.232)		GAGAAGCCGCTGCCGGAGGTG	0.692000													7	27					0	0	1	0	0
TMEM8A	58986	broad.mit.edu	37	16	424347	424347	+	Missense_Mutation	SNP	C	C	A	rs138827125		TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr16:424347C>A	ENST00000431232.2	-	10	1789	c.1629G>T	c.(1627-1629)caG>caT	p.Q543H	TMEM8A_ENST00000250930.3_Missense_Mutation_p.Q350H	NM_021259.2	NP_067082.2	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8A	543					cell adhesion	integral to plasma membrane				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						CCGCCCTCTGCTGGGCCACCG	0.667000											OREG0003702	type=REGULATORY REGION|Gene=TMEM8|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	17	51					1.96292e-10	2.47211e-10	1	1	0
TMC5	79838	broad.mit.edu	37	16	19477554	19477554	+	Splice_Site	SNP	A	A	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr16:19477554A>T	ENST00000396229.2	+	9	2385	c.1637_splice	c.e9+1	p.S546_splice	TMC5_ENST00000561503.1_Splice_Site_p.S187_splice|TMC5_ENST00000542583.2_Splice_Site_p.S546_splice|TMC5_ENST00000541464.1_Splice_Site_p.S546_splice|TMC5_ENST00000381414.4_Splice_Site_p.S546_splice|TMC5_ENST00000219821.5_Splice_Site_p.S300_splice|TMC5_ENST00000564959.1_Splice_Site_p.S229_splice	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	546						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						TTTGCTGTTCAGGTATGGAAG	0.458000													20	23					0	0	1	0	0
HNF4A	3172	broad.mit.edu	37	20	43058239	43058239	+	Silent	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr20:43058239C>T	ENST00000316099.3	+	10	1448	c.1359C>T	c.(1357-1359)gtC>gtT	p.V453V	HNF4A_ENST00000415691.1_Silent_p.V443V|HNF4A_ENST00000457232.1_Silent_p.V421V	NM_000457.4|NM_001258355.1	NP_000448.3|NP_001245284.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	453			V -> I.		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	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|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)			CGGGAGCCGTCGCCACAATCG	0.637000													15	210					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100363024	100363024	+	RNA	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr7:100363024C>A	ENST00000542585.1	+	0	4465				ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CGAAGCCATGCCCTGACACCT	0.607000													22	29					5.35356e-11	6.83829e-11	1	1	0
ZGLP1	100125288	broad.mit.edu	37	19	10415842	10415842	+	Silent	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:10415842C>A	ENST00000403903.3	-	4	1939	c.741G>T	c.(739-741)gtG>gtT	p.V247V	ZGLP1_ENST00000403352.1_Silent_p.V163V	NM_001103167.1	NP_001096637.1	P0C6A0	ZGLP1_HUMAN	zinc finger, GATA-like protein 1	247					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|ovary(1)	6						TTTTCCTGGGCACCAGCCAGC	0.577000													24	48					4.4004e-07	5.11935e-07	1	1	0
RBPJL	11317	broad.mit.edu	37	20	43944827	43944827	+	Splice_Site	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr20:43944827G>T	ENST00000343694.3	+	10	1093	c.1020_splice	c.e10-1	p.A341_splice	RBPJL_ENST00000372743.1_Splice_Site_p.A341_splice|RBPJL_ENST00000464504.1_Intron|RBPJL_ENST00000372741.3_Splice_Site_p.A341_splice	NM_014276.2	NP_055091.2	Q9UBG7	RBPJL_HUMAN	recombination signal binding protein for immunoglobulin kappa J region-like	341					signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				CTCCTCCCAGGCCTCTCCCTG	0.617000													29	63					8.4185e-14	1.1382e-13	1	1	0
DPP3	10072	broad.mit.edu	37	11	66262731	66262731	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:66262731G>T	ENST00000532677.1	+	13	1902	c.1501G>T	c.(1501-1503)Ggc>Tgc	p.G501C	DPP3_ENST00000531863.1_Missense_Mutation_p.G502C|DPP3_ENST00000530165.1_Missense_Mutation_p.G452C|DPP3_ENST00000453114.1_Missense_Mutation_p.G482C|DPP3_ENST00000360510.2_Missense_Mutation_p.G482C|DPP3_ENST00000541961.1_Missense_Mutation_p.G482C|DPP3_ENST00000533799.1_3'UTR	NM_001256670.1|NM_005700.4|NM_130443.3	NP_001243599.1|NP_005691.2|NP_569710.2	Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	482					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						CCCAGAGACGGGCGAGCAGGT	0.602000													40	121					6.99958e-10	8.71741e-10	1	1	0
TARBP1	6894	broad.mit.edu	37	1	234565839	234565839	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:234565839C>A	ENST00000040877.1	-	15	2602	c.2603G>T	c.(2602-2604)tGc>tTc	p.C868F		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	868					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			GTACCTGCTGCACTCCAAGGG	0.483000													331	367					6.51587e-154	1.06524e-153	1	1	0
TTN	7273	broad.mit.edu	37	2	179481642	179481642	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr2:179481642G>A	ENST00000589042.1	-	256	48198	c.47974C>T	c.(47974-47976)Cca>Tca	p.P15992S	TTN_ENST00000591111.1_Missense_Mutation_p.P14351S|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P7052S|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P7119S|TTN_ENST00000342992.6_Missense_Mutation_p.P13424S|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P6927S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	14351	Fibronectin type-III 16.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTTGCAGTTGGCCTTGGATAG	0.438000													52	96					0	0	1	0	0
BZRAP1	9256	broad.mit.edu	37	17	56389623	56389623	+	Silent	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr17:56389623C>T	ENST00000355701.3	-	17	3429	c.2559G>A	c.(2557-2559)ggG>ggA	p.G853G	BZRAP1_ENST00000268893.6_Silent_p.G793G|BZRAP1_ENST00000343736.4_Silent_p.G853G	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	853	Fibronectin type-III 1.					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)					TGTGAAGGGGCCCGGCCCACA	0.682000													13	40					0	0	1	0	0
BIRC8	112401	broad.mit.edu	37	19	53793438	53793438	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:53793438G>T	ENST00000426466.1	-	1	1437	c.190C>A	c.(190-192)Cca>Aca	p.P64T		NM_033341.4	NP_203127.3	Q96P09	BIRC8_HUMAN	baculoviral IAP repeat containing 8	64					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)		TTGCAACCTGGATACCATTTA	0.433000													23	58					4.72057e-08	5.63504e-08	1	1	0
MARVELD2	153562	broad.mit.edu	37	5	68728790	68728790	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr5:68728790A>G	ENST00000325631.5	+	5	1447	c.1373A>G	c.(1372-1374)tAt>tGt	p.Y458C	MARVELD2_ENST00000413223.2_Missense_Mutation_p.Y342C	NM_001038603.2|NM_001244734.1	NP_001033692.2|NP_001231663.1	Q8N4S9	MALD2_HUMAN	MARVEL domain containing 2	458					sensory perception of sound	integral to membrane|tight junction				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1)	15		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)		CGAGAACGCTATAAAGCTGTG	0.423000													40	47					0	0	1	0	0
SOBP	55084	broad.mit.edu	37	6	107955764	107955764	+	Silent	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr6:107955764G>T	ENST00000317357.5	+	6	2375	c.1716G>T	c.(1714-1716)gcG>gcT	p.A572A		NM_018013.3	NP_060483.3	A7XYQ1	SOBP_HUMAN	sine oculis binding protein homolog (Drosophila)	572							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)		ACTCCGCGGCGGCGGGCGGCA	0.706000													9	15					7.48243e-07	8.66895e-07	1	1	0
COL4A5	1287	broad.mit.edu	37	X	107939561	107939561	+	Silent	SNP	T	T	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:107939561T>C	ENST00000328300.6	+	53	5273	c.5029T>C	c.(5029-5031)Ttg>Ctg	p.L1677L	COL4A5_ENST00000361603.2_Silent_p.L1671L	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1671	Collagen IV NC1.		Missing (in APSX).|R -> P (in APSX).|R -> Q (in APSX).		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						AGCAGGAGACTTGAGGACACG	0.338000									Alport syndrome with Diffuse Leiomyomatosis				33	50					0	0	1	0	0
IMPG1	3617	broad.mit.edu	37	6	76728498	76728498	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr6:76728498C>A	ENST00000369950.3	-	7	933	c.744G>T	c.(742-744)aaG>aaT	p.K248N	IMPG1_ENST00000369963.3_3'UTR	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	248	SEA 1.				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity	p.K248K(1)		breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				CGAGCTCTGCCTTGAACTTCT	0.493000													26	40					3.28513e-13	4.36008e-13	1	1	0
OR8B12	219858	broad.mit.edu	37	11	124412852	124412852	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:124412852C>A	ENST00000306842.2	-	1	723	c.699G>T	c.(697-699)agG>agT	p.R233S		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		AGGCTTTGGACCTGCCTTCTG	0.448000													12	46					2.80697e-09	3.43296e-09	1	1	0
ADCY2	108	broad.mit.edu	37	5	7717281	7717281	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr5:7717281A>T	ENST00000338316.4	+	12	1723	c.1634A>T	c.(1633-1635)cAa>cTa	p.Q545L	RP11-711G10.1_ENST00000514105.2_RNA|ADCY2_ENST00000537121.1_Missense_Mutation_p.Q365L	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	545					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						ACCAAGTCACAAAAGAAGAGA	0.264000													13	144					0	0	1	0	0
AMFR	267	broad.mit.edu	37	16	56396849	56396849	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr16:56396849C>T	ENST00000290649.5	-	14	2114	c.1904G>A	c.(1903-1905)cGg>cAg	p.R635Q		NM_001144.5	NP_001135.3	Q9UKV5	AMFR2_HUMAN	autocrine motility factor receptor, E3 ubiquitin protein ligase	635					endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein oligomerization|protein polyubiquitination	integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						CTGAAGCCTCCGTTCCGCGGC	0.642000													6	27					0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22155794	22155794	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:22155794G>T	ENST00000397126.4	-	4	2190	c.2042C>A	c.(2041-2043)aCt>aAt	p.T681N	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											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)				CTTATGTTTAGTAAGGATTGA	0.383000													24	58					1.42536e-11	1.84909e-11	1	1	0
EPHA2	1969	broad.mit.edu	37	1	16461536	16461536	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:16461536G>A	ENST00000358432.5	-	7	1731	c.1577C>T	c.(1576-1578)aCg>aTg	p.T526M		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	526	Fibronectin type-III 2.				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)	CTCACACAGCGTCTGGAATTC	0.592000													32	286					0	0	1	0	0
LPPR4	9890	broad.mit.edu	37	1	99762379	99762379	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:99762379G>C	ENST00000370185.3	+	3	991	c.494G>C	c.(493-495)gGc>gCc	p.G165A	LPPR4_ENST00000457765.1_Missense_Mutation_p.G165A	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		165							phosphatidate phosphatase activity	p.G165>?(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		AATGCTGGAGGCTGCAACTTC	0.418000													23	71					0	0	1	0	0
KRTAP5-2	440021	broad.mit.edu	37	11	1619313	1619313	+	Silent	SNP	A	A	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:1619313A>G	ENST00000412090.1	-	1	211	c.168T>C	c.(166-168)tgT>tgC	p.C56C	KRTAP5-AS1_ENST00000424148.1_RNA	NM_001004325.1	NP_001004325.1	Q701N4	KRA52_HUMAN	keratin associated protein 5-2	56						keratin filament				large_intestine(1)|lung(2)|skin(1)	4		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)		CAGGCACATAACATCTGGAGC	0.677000													68	176					0	0	1	0	0
GPR161	23432	broad.mit.edu	37	1	168065871	168065871	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:168065871C>A	ENST00000367838.1	-	5	1287	c.974G>T	c.(973-975)gGa>gTa	p.G325V	GPR161_ENST00000367835.1_Missense_Mutation_p.G325V|GPR161_ENST00000546300.1_Missense_Mutation_p.G211V|GPR161_ENST00000367836.1_Missense_Mutation_p.G193V|GPR161_ENST00000537209.1_Missense_Mutation_p.G345V|GPR161_ENST00000271357.5_Missense_Mutation_p.G325V|GPR161_ENST00000539777.1_Missense_Mutation_p.G247V|GPR161_ENST00000361697.2_Missense_Mutation_p.G325V	NM_001267611.1|NM_153832.2	NP_001254540.1|NP_722561.1	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161	325					multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					GTTCCAGAGTCCATAGATCAG	0.572000													24	91					2.27525e-19	3.33337e-19	1	1	0
APEX2	27301	broad.mit.edu	37	X	55033387	55033387	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:55033387A>G	ENST00000374987.3	+	6	1142	c.1076A>G	c.(1075-1077)cAc>cGc	p.H359R		NM_014481.2	NP_055296.2	Q9UBZ4	APEX2_HUMAN	APEX nuclease (apurinic/apyrimidinic endonuclease) 2	359					cell cycle|DNA recombination|DNA repair	nucleus	DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|exonuclease activity|zinc ion binding			breast(1)|endometrium(8)|large_intestine(4)|lung(6)|prostate(1)|urinary_tract(1)	21						ACGCTGCAGCACAACAATCAA	0.552000								Other BER factors					16	27					0	0	1	0	0
TRMT2B	79979	broad.mit.edu	37	X	100292970	100292970	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:100292970C>A	ENST00000372936.3	-	5	1146	c.374G>T	c.(373-375)aGt>aTt	p.S125I	TRMT2B_ENST00000545398.1_Missense_Mutation_p.S125I|TRMT2B_ENST00000372931.5_Missense_Mutation_p.S125I|TRMT2B_ENST00000338687.7_Intron|TRMT2B_ENST00000478422.1_5'UTR|TRMT2B_ENST00000372939.1_Intron|TRMT2B_ENST00000372935.1_Missense_Mutation_p.S125I	NM_024917.5	NP_079193.2	Q96GJ1	TRM2_HUMAN	tRNA methyltransferase 2 homolog B (S. cerevisiae)	125							tRNA (uracil-5-)-methyltransferase activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	24						CGTTGTCACACTGACTCCATT	0.408000													153	276					1.9816e-69	3.23018e-69	1	1	0
BRAF	673	broad.mit.edu	37	7	140549911	140549911	+	Splice_Site	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr7:140549911C>A	ENST00000288602.6	-	2	300	c.240_splice	c.e2+1	p.E80_splice		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	80					activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding		SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	AAAAGCTTACCTCCAGATATA	0.318000		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				15	109					1.5739e-10	1.99337e-10	1	1	0
RYR2	6262	broad.mit.edu	37	1	237868518	237868518	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:237868518G>T	ENST00000366574.2	+	67	9772	c.9455G>T	c.(9454-9456)cGt>cTt	p.R3152L	RYR2_ENST00000360064.6_Missense_Mutation_p.R3150L|RYR2_ENST00000542537.1_Missense_Mutation_p.R3136L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3152					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.R3150L(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)			TATAGGCAACGTTCTGCATTA	0.338000													6	12					1.12685e-05	1.25998e-05	1	1	0
GPR158	57512	broad.mit.edu	37	10	25887286	25887286	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr10:25887286G>T	ENST00000376351.3	+	11	3090	c.2731G>T	c.(2731-2733)Gag>Tag	p.E911*	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	911						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						AAGCGCCAAGGAGAAGACTCT	0.468000													65	147					7.59065e-32	1.19731e-31	1	1	0
SLC9A2	6549	broad.mit.edu	37	2	103324878	103324878	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr2:103324878C>A	ENST00000233969.2	+	12	2511	c.2369C>A	c.(2368-2370)cCa>cAa	p.P790Q		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	790						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						CCCAAGCCGCCACCACGGCTG	0.567000													25	102					4.74835e-14	6.45488e-14	1	1	0
KRTAP17-1	83902	broad.mit.edu	37	17	39471688	39471688	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr17:39471688C>T	ENST00000334202.3	-	1	259	c.215G>A	c.(214-216)gGg>gAg	p.G72E		NM_031964.1	NP_114170.1	Q9BYP8	KR171_HUMAN	keratin associated protein 17-1	72						intermediate filament				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			gcagccacccccgcagcctcc	0.677000													11	17					0	0	1	0	0
SS18	6760	broad.mit.edu	37	18	23637672	23637672	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr18:23637672C>A	ENST00000415083.2	-	4	321	c.266G>T	c.(265-267)gGg>gTg	p.G89V	SS18_ENST00000545952.1_Missense_Mutation_p.G37V|SS18_ENST00000542743.1_Missense_Mutation_p.G37V|SS18_ENST00000542420.2_Missense_Mutation_p.G66V|SS18_ENST00000269137.7_Missense_Mutation_p.G89V|SS18_ENST00000585241.1_5'UTR|SS18_ENST00000539849.1_Missense_Mutation_p.G7V	NM_001007559.1|NM_005637.2	NP_001007560.1|NP_005628.2	Q15532	SSXT_HUMAN	synovial sarcoma translocation, chromosome 18	89	Transcriptional activation.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding		SS18/SSX2(706)|SS18/SSX1(1169)|SS18/SSX4(12)	endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(1)	19	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)					CTGATTCATCCCTCCAGGACC	0.502000			T	"""SSX1,  SSX2"""	synovial sarcoma								17	97					1.28384e-07	1.51561e-07	1	1	0
ZNF528	84436	broad.mit.edu	37	19	52918959	52918959	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:52918959C>T	ENST00000360465.3	+	7	1280	c.854C>T	c.(853-855)gCa>gTa	p.A285V	ZNF528_ENST00000391788.2_3'UTR	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	285					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)		TCAAAGCTTGCACAACATCAA	0.368000													20	94					0	0	1	0	0
TTC7A	57217	broad.mit.edu	37	2	47300958	47300958	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr2:47300958G>A	ENST00000319190.5	+	20	2841	c.2473G>A	c.(2473-2475)Gcc>Acc	p.A825T	TTC7A_ENST00000394850.2_Missense_Mutation_p.A849T|CALM2_ENST00000422269.1_Intron|TTC7A_ENST00000409245.1_Missense_Mutation_p.A791T|TTC7A_ENST00000263737.6_Missense_Mutation_p.A471T	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	825							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)			GGTGCTGCAGGCCCAGGGCCA	0.657000													11	70					0	0	1	0	0
ABCB5	340273	broad.mit.edu	37	7	20784879	20784879	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr7:20784879G>T	ENST00000404938.2	+	26	3899	c.3247G>T	c.(3247-3249)Gaa>Taa	p.E1083*	ABCB5_ENST00000258738.6_Nonsense_Mutation_p.E638*	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	638					regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	p.?(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						GGATGCAAAAGAATTGAATGT	0.433000													28	49					7.26314e-15	1.0013e-14	1	1	0
SLC24A5	283652	broad.mit.edu	37	15	48426734	48426734	+	Splice_Site	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr15:48426734C>T	ENST00000341459.3	+	4	561	c.489_splice	c.e4+1	p.T163_splice	SLC24A5_ENST00000449382.2_Splice_Site_p.T103_splice	NM_205850.2	NP_995322.1	Q71RS6	NCKX5_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 5	163					response to stimulus	integral to membrane|melanosome|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1)	27		all_lung(180;0.00217)		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)		CTATCTAATACGGTATGTAAC	0.373000													7	36					0	0	1	0	0
BHMT2	23743	broad.mit.edu	37	5	78378654	78378654	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr5:78378654C>T	ENST00000255192.3	+	5	539	c.473C>T	c.(472-474)gCt>gTt	p.A158V	DMGDH_ENST00000520388.1_Intron|BHMT2_ENST00000521567.1_Missense_Mutation_p.A94V	NM_017614.4	NP_060084.2	Q9H2M3	BHMT2_HUMAN	betaine--homocysteine S-methyltransferase 2	158	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)	GTTGAAGAAGCTGTGTGGGCT	0.418000													43	45					0	0	1	0	0
SEMA6C	10500	broad.mit.edu	37	1	151107298	151107298	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:151107298C>T	ENST00000341697.3	-	16	3325	c.1634G>A	c.(1633-1635)tGt>tAt	p.C545Y				Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	545						integral to membrane	receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GATATCCACACAGCCCCTGGA	0.532000													7	76					0	0	1	0	0
PTPRU	10076	broad.mit.edu	37	1	29638197	29638197	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:29638197G>A	ENST00000356870.3	+	22	3126	c.3016G>A	c.(3016-3018)Ggg>Agg	p.G1006R	PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000323874.8_Missense_Mutation_p.G1006R|PTPRU_ENST00000345512.3_Missense_Mutation_p.G1010R|PTPRU_ENST00000373779.3_Missense_Mutation_p.G1000R|PTPRU_ENST00000428026.2_Missense_Mutation_p.G997R|PTPRU_ENST00000460170.2_Missense_Mutation_p.G1006R	NM_133177.3	NP_573438.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	1010	Tyrosine-protein phosphatase 1.				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	p.G1006W(2)|p.G1010W(1)		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)		AGACACCTACGGGGACATCAA	0.602000													47	117					0	0	1	0	0
LRRN2	10446	broad.mit.edu	37	1	204587571	204587571	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:204587571G>T	ENST00000367175.1	-	1	3762	c.1550C>A	c.(1549-1551)gCt>gAt	p.A517D	LRRN2_ENST00000367176.3_Missense_Mutation_p.A517D|LRRN2_ENST00000367177.3_Missense_Mutation_p.A517D			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	517					cell adhesion	integral to membrane	receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			CTGGAGGAGAGCACGGCCCAC	0.627000													18	60					4.75885e-15	6.58895e-15	1	1	0
CMTR2	55783	broad.mit.edu	37	16	71318242	71318242	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr16:71318242C>A	ENST00000338099.5	-	3	1918	c.1582G>T	c.(1582-1584)Gga>Tga	p.G528*	FTSJD1_ENST00000434935.2_Nonsense_Mutation_p.G528*			Q8IYT2	FTSJ1_HUMAN		528						integral to membrane	methyltransferase activity|nucleic acid binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AAAGCTCCTCCTAATGACTTT	0.338000													18	14					9.7654e-05	0.000106484	1	1	0
NLRP5	126206	broad.mit.edu	37	19	56539847	56539847	+	Missense_Mutation	SNP	G	G	T	rs61745533		TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:56539847G>T	ENST00000390649.3	+	7	2248	c.2248G>T	c.(2248-2250)Gct>Tct	p.A750S		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	750						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)		AGATGAGTCCGCTGAGGCATG	0.522000													60	149					9.10829e-22	1.3629e-21	1	1	0
PTGDS	5730	broad.mit.edu	37	9	139873466	139873466	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr9:139873466G>A	ENST00000224167.2	+	2	211	c.136G>A	c.(136-138)Gcg>Acg	p.A46T	PTGDS_ENST00000371625.3_Missense_Mutation_p.A46T|PTGDS_ENST00000460340.1_3'UTR			P41222	PTGDS_HUMAN	prostaglandin D2 synthase 21kDa (brain)	46					prostaglandin biosynthetic process|regulation of circadian sleep/wake cycle, sleep	Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum	fatty acid binding|prostaglandin-D synthase activity|retinoid binding|transporter activity			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CTGGTTCAGCGCGGGCCTCGC	0.716000													12	43					0	0	1	0	0
STK36	27148	broad.mit.edu	37	2	219544360	219544360	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr2:219544360G>T	ENST00000295709.3	+	8	1135	c.856G>T	c.(856-858)Gac>Tac	p.D286Y	STK36_ENST00000440309.1_Missense_Mutation_p.D286Y|STK36_ENST00000392105.3_Missense_Mutation_p.D286Y|STK36_ENST00000392106.2_Missense_Mutation_p.D286Y	NM_015690.4	NP_056505.2	Q9NRP7	STK36_HUMAN	serine/threonine kinase 36	286					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)		GGTCCTAAAGGACGAACAGGC	0.572000													13	30					1.5842e-08	1.90529e-08	1	1	0
ASAP3	55616	broad.mit.edu	37	1	23761031	23761031	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:23761031C>A	ENST00000336689.3	-	18	1874	c.1830G>T	c.(1828-1830)caG>caT	p.Q610H	ASAP3_ENST00000495646.1_Missense_Mutation_p.Q114H|ASAP3_ENST00000484906.1_5'UTR|ASAP3_ENST00000437606.2_Missense_Mutation_p.Q601H	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 3	610					regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						CTCACCCGTTCTGGATGATGA	0.542000													8	46					0.0581538	0.0590221	1	1	0
OR2T34	127068	broad.mit.edu	37	1	248738019	248738019	+	Missense_Mutation	SNP	T	T	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:248738019T>G	ENST00000328782.2	-	1	61	c.40A>C	c.(40-42)Agc>Cgc	p.S14R		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	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;0.0265)			AAATCAGTGCTTGCTGTTTGA	0.463000													12	80					0	0	1	0	0
ZNF616	90317	broad.mit.edu	37	19	52618819	52618819	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:52618819C>A	ENST00000600228.1	-	4	1859	c.1598G>T	c.(1597-1599)cGt>cTt	p.R533L	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	533					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		AAAAGCTGAACGGTCACTGAA	0.438000													33	58					1.22384e-17	1.75628e-17	1	1	0
GPT2	84706	broad.mit.edu	37	16	46943768	46943768	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr16:46943768G>A	ENST00000440783.2	+	6	1114	c.449G>A	c.(448-450)cGg>cAg	p.R150Q	GPT2_ENST00000340124.4_Missense_Mutation_p.R250Q	NM_001142466.1	NP_001135938.1	Q8TD30	ALAT2_HUMAN	glutamic pyruvate transaminase (alanine aminotransferase) 2	250					2-oxoglutarate metabolic process|cellular amino acid biosynthetic process|L-alanine metabolic process	mitochondrial matrix	L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522)			L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	GAGCTCCGGCGGGCGGTGCAG	0.557000													3	54					0	0	1	0	0
APPBP2	10513	broad.mit.edu	37	17	58577832	58577832	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr17:58577832C>T	ENST00000083182.3	-	2	442	c.155G>A	c.(154-156)cGc>cAc	p.R52H		NM_006380.2	NP_006371.2	Q92624	APBP2_HUMAN	amyloid beta precursor protein (cytoplasmic tail) binding protein 2	52					intracellular protein transport	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus	microtubule motor activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1)	25	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)			TTGACATAAGCGTCCCTGTTG	0.254000													12	32					0	0	1	0	0
TTC7B	145567	broad.mit.edu	37	14	91007790	91007790	+	Silent	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr14:91007790C>T	ENST00000357056.2	-	21	2626	c.2505G>A	c.(2503-2505)acG>acA	p.T835T	TTC7B_ENST00000328459.6_Silent_p.T818T|TTC7B_ENST00000554654.1_5'UTR			Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	818							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)				GGAAGCACTCCGTAGCCGCCG	0.682000													5	36					0	0	1	0	0
RAD23A	5886	broad.mit.edu	37	19	13059014	13059014	+	Silent	SNP	A	A	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:13059014A>T	ENST00000586534.1	+	3	319	c.258A>T	c.(256-258)tcA>tcT	p.S86S	RAD23A_ENST00000316856.3_Silent_p.S86S|RAD23A_ENST00000541222.1_5'UTR|RAD23A_ENST00000592268.1_Silent_p.S86S|RAD23A_ENST00000588826.2_3'UTR			P54725	RD23A_HUMAN	RAD23 homolog A (S. cerevisiae)	86					interspecies interaction between organisms|nucleotide-excision repair|positive regulation of viral genome replication|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12						AGGGTACCTCAGCACCCCCAG	0.652000								Nucleotide excision repair (NER)					36	63					0	0	1	0	0
HIBADH	11112	broad.mit.edu	37	7	27565903	27565903	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr7:27565903C>A	ENST00000265395.2	-	8	1147	c.941G>T	c.(940-942)tGt>tTt	p.C314F		NM_152740.3	NP_689953.1	P31937	3HIDH_HUMAN	3-hydroxyisobutyrate dehydrogenase	314					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)	GCCCTTTGCACACATCATCCT	0.507000													21	26					2.70639e-06	3.06898e-06	1	1	0
EPB41L4B	54566	broad.mit.edu	37	9	112004014	112004014	+	Silent	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr9:112004014G>A	ENST00000374557.4	-	16	2002	c.1485C>T	c.(1483-1485)caC>caT	p.H495H	EPB41L4B_ENST00000374566.3_Intron	NM_018424.2	NP_060894.2	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	0						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						GGTTCTGGTCGTGGACATAAT	0.458000													33	111					0	0	1	0	0
ERCC6L2	375748	broad.mit.edu	37	9	98678076	98678076	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr9:98678076G>T	ENST00000288985.7	+	5	1253	c.948G>T	c.(946-948)caG>caT	p.Q316H	ERCC6L2_ENST00000437817.1_Missense_Mutation_p.Q127H|ERCC6L2_ENST00000466840.1_3'UTR	NM_001010895.2	NP_001010895.1	Q5T890	RAD26_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2	316	Helicase ATP-binding.				DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding										CCATCCTTCAGAACAACATGA	0.373000													16	48					1.15088e-07	1.36007e-07	1	1	0
PLEKHA6	22874	broad.mit.edu	37	1	204234148	204234148	+	Silent	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:204234148C>A	ENST00000272203.3	-	6	619	c.303G>T	c.(301-303)ctG>ctT	p.L101L	PLEKHA6_ENST00000414478.1_Silent_p.L101L	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	101	PH.									breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			GGATGCTGCCCAGGATACTCT	0.592000													52	156					5.57489e-27	8.59415e-27	1	1	0
FLG	2312	broad.mit.edu	37	1	152282658	152282658	+	Silent	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:152282658G>T	ENST00000368799.1	-	3	4739	c.4704C>A	c.(4702-4704)gcC>gcA	p.A1568A	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1568	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)			TAGAGCTGCCGGCCCGAGTGG	0.587000									Ichthyosis				122	271					3.79751e-50	6.16786e-50	1	1	0
NEU4	129807	broad.mit.edu	37	2	242756340	242756340	+	Silent	SNP	G	G	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr2:242756340G>C	ENST00000391969.2	+	4	1164	c.453G>C	c.(451-453)gtG>gtC	p.V151V	NEU4_ENST00000404257.1_Silent_p.V163V|NEU4_ENST00000325935.6_Silent_p.V164V|NEU4_ENST00000407683.1_Silent_p.V151V|NEU4_ENST00000405370.1_Silent_p.V151V	NM_001167602.1	NP_001161074.1	Q8WWR8	NEUR4_HUMAN	sialidase 4	151						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)		GTGGTGCCGTGCAGGGTAGGC	0.687000													3	14					0	0	1	0	0
OR10H3	26532	broad.mit.edu	37	19	15852502	15852502	+	Silent	SNP	T	T	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:15852502T>C	ENST00000305892.1	+	1	300	c.300T>C	c.(298-300)atT>atC	p.I100I		NM_013938.1	NP_039226.1	O60404	O10H3_HUMAN	olfactory receptor, family 10, subfamily H, member 3	100					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						CTTGTGCCATTCAGATGTTCT	0.498000													13	347					0	0	1	0	0
OR10S1	219873	broad.mit.edu	37	11	123847568	123847568	+	Silent	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:123847568G>A	ENST00000531945.1	-	1	920	c.831C>T	c.(829-831)cgC>cgT	p.R277R		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	277					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		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)		CCTCACTGGAGCGAGGCTGCA	0.597000													23	149					0	0	1	0	0
RGS9	8787	broad.mit.edu	37	17	63221182	63221182	+	Silent	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr17:63221182G>A	ENST00000449996.3	+	18	1533	c.1461G>A	c.(1459-1461)ccG>ccA	p.P487P	RGS9_ENST00000262406.9_Silent_p.P490P|RGS9_ENST00000443584.3_Silent_p.P487P	NM_001081955.2	NP_001075424.1	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	490					intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						GCATGCCCCCGTCTCCTTCTA	0.647000													36	219					0	0	1	0	0
PSG9	5678	broad.mit.edu	37	19	43772240	43772240	+	Silent	SNP	T	T	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:43772240T>A	ENST00000244293.7	-	2	192	c.126A>T	c.(124-126)ccA>ccT	p.P42P	PSG9_ENST00000443718.3_Silent_p.P42P|PSG9_ENST00000593948.1_Silent_p.P42P|PSG9_ENST00000270077.3_Silent_p.P42P|PSG9_ENST00000596730.1_Silent_p.P42P|PSG9_ENST00000418820.2_Silent_p.P42P|PSG9_ENST00000291752.5_Silent_p.P42P			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	42	Ig-like V-type.				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)				AAACTTTGGGTGGCTGGGCTT	0.493000													69	141					0	0	1	0	0
PRDM4	11108	broad.mit.edu	37	12	108145974	108145974	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr12:108145974T>A	ENST00000228437.5	-	5	803	c.344A>T	c.(343-345)tAt>tTt	p.Y115F	RP11-864J10.4_ENST00000546714.1_RNA	NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN	PR domain containing 4	115					cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						GTCAGCTAAATAAGATAAAAT	0.353000													4	69					0	0	1	0	0
NLRP12	91662	broad.mit.edu	37	19	54304612	54304612	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:54304612C>A	ENST00000324134.6	-	7	2793	c.2625G>T	c.(2623-2625)gaG>gaT	p.E875D	NLRP12_ENST00000391773.1_Missense_Mutation_p.E876D|NLRP12_ENST00000391772.1_Intron|NLRP12_ENST00000535162.1_Missense_Mutation_p.E875D|NLRP12_ENST00000354278.3_Intron|NLRP12_ENST00000351894.4_Intron|NLRP12_ENST00000391775.3_Missense_Mutation_p.E875D|NLRP12_ENST00000345770.5_Missense_Mutation_p.E876D	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	875					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|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)		TTGAGGCCAGCTCGTCACAGG	0.532000													23	41					2.52088e-20	3.73223e-20	1	1	0
SPEF2	79925	broad.mit.edu	37	5	35763770	35763770	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr5:35763770C>T	ENST00000440995.2	+	26	3752	c.3752C>T	c.(3751-3753)aCc>aTc	p.T1251I	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Missense_Mutation_p.T1256I			Q9C093	SPEF2_HUMAN	sperm flagellar 2	1256					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)			GTCATGGACACCTGGCAGCAG	0.408000													33	96					0	0	1	0	0
MKRN1	23608	broad.mit.edu	37	7	140158963	140158963	+	Silent	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr7:140158963G>A	ENST00000255977.2	-	4	839	c.615C>T	c.(613-615)acC>acT	p.T205T	MKRN1_ENST00000437223.2_Intron|MKRN1_ENST00000443720.2_Silent_p.T205T|MKRN1_ENST00000474576.1_Silent_p.T141T|MKRN1_ENST00000480552.1_Intron	NM_013446.3	NP_038474.2	Q9UHC7	MKRN1_HUMAN	makorin ring finger protein 1	205							ligase activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	16	Melanoma(164;0.00956)					TCTCCACGGCGGTTTGCTCTT	0.537000													5	221					0	0	1	0	0
RPL3L	6123	broad.mit.edu	37	16	1996683	1996683	+	Silent	SNP	C	C	T	rs139240010		TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr16:1996683C>T	ENST00000268661.7	-	7	988	c.894G>A	c.(892-894)ctG>ctA	p.L298L		NM_005061.2	NP_005052.1	Q92901	RL3L_HUMAN	ribosomal protein L3-like	298					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	17						TGTTCTTCACCAGCTTCCCGT	0.652000													10	65					0	0	1	0	0
F11	2160	broad.mit.edu	37	4	187192886	187192886	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr4:187192886C>A	ENST00000264692.4	+	3	512	c.179C>A	c.(178-180)aCt>aAt	p.T60N	F11_ENST00000492972.2_Missense_Mutation_p.T60N|F11_ENST00000403665.2_Missense_Mutation_p.T60N			P03951	FA11_HUMAN	coagulation factor XI	60	Apple 1.				blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis	extracellular space|plasma membrane	heparin binding|serine-type endopeptidase activity			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	TTACTCTTCACTTTCACGGCG	0.463000													32	67					1.17478e-05	1.31096e-05	1	1	0
IRX1	79192	broad.mit.edu	37	5	3599696	3599696	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr5:3599696G>T	ENST00000302006.3	+	2	686	c.634G>T	c.(634-636)Ggc>Tgc	p.G212C	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	212						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CGACACCGAGGGCGACCCGGA	0.627000													11	150					3.86212e-05	4.23813e-05	1	1	0
MRPS31	10240	broad.mit.edu	37	13	41341054	41341054	+	Missense_Mutation	SNP	T	T	A	rs150773124		TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr13:41341054T>A	ENST00000323563.6	-	2	304	c.268A>T	c.(268-270)Agt>Tgt	p.S90C		NM_005830.3	NP_005821.2	Q92665	RT31_HUMAN	mitochondrial ribosomal protein S31	90						mitochondrion|ribosome	protein domain specific binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706)		TCCTTTTCACTGTCTTGGCTC	0.398000													41	53					0	0	1	0	0
KRT25	147183	broad.mit.edu	37	17	38906727	38906727	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr17:38906727C>A	ENST00000312150.4	-	6	1140	c.1080G>T	c.(1078-1080)gaG>gaT	p.E360D		NM_181534.3	NP_853512.1	Q7Z3Z0	K1C25_HUMAN	keratin 25	360	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)				GCTTCTGGCCCTCGGTCTCGG	0.567000													12	208					1.08611e-07	1.28488e-07	1	1	0
PCDHGA9	56107	broad.mit.edu	37	5	140784028	140784028	+	Silent	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr5:140784028C>T	ENST00000573521.1	+	1	1509	c.1509C>T	c.(1507-1509)acC>acT	p.T503T	PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCTCTCCACCTATGTCTCTA	0.458000													15	22					0	0	1	0	0
TBL3	10607	broad.mit.edu	37	16	2025882	2025882	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr16:2025882C>T	ENST00000568546.1	+	11	1189	c.1061C>T	c.(1060-1062)tCc>tTc	p.S354F		NM_006453.2	NP_006444.2	Q12788	TBL3_HUMAN	transducin (beta)-like 3	354					G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity			breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						GTCGTGGCCTCCAATAGCCCC	0.627000													16	109					0	0	1	0	0
OR8K3	219473	broad.mit.edu	37	11	56086198	56086198	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:56086198G>T	ENST00000312711.1	+	1	416	c.416G>T	c.(415-417)aGg>aTg	p.R139M		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	139					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					ATGTCACGAAGGGTATGTCAG	0.418000													20	57					1.40151e-16	1.99213e-16	1	1	0
OXGR1	27199	broad.mit.edu	37	13	97639847	97639847	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr13:97639847G>C	ENST00000298440.1	-	4	410	c.167C>G	c.(166-168)tCc>tGc	p.S56C	OXGR1_ENST00000543457.1_Missense_Mutation_p.S56C	NM_080818.3	NP_543008.3	Q96P68	OXGR1_HUMAN	oxoglutarate (alpha-ketoglutarate) receptor 1	56						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			NS(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.186)			AATGTAAGTGGATATCACTAC	0.458000													39	16					0	0	1	0	0
SRRM2	23524	broad.mit.edu	37	16	2815876	2815876	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr16:2815876A>G	ENST00000301740.8	+	11	5896	c.5347A>G	c.(5347-5349)Aga>Gga	p.R1783G		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1783	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						AGAGAAAACAAGAACAACCCG	0.597000													30	42					0	0	1	0	0
DIXDC1	85458	broad.mit.edu	37	11	111844945	111844945	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:111844945G>T	ENST00000440460.2	+	4	812	c.515G>T	c.(514-516)cGa>cTa	p.R172L	DIXDC1_ENST00000529225.1_Missense_Mutation_p.R171L|DIXDC1_ENST00000389821.4_3'UTR|DIXDC1_ENST00000531396.1_Missense_Mutation_p.R172L	NM_001037954.2	NP_001033043.1	Q155Q3	DIXC1_HUMAN	DIX domain containing 1	172	Actin-binding.				multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytosol|focal adhesion	actin binding|gamma-tubulin binding|signal transducer activity	p.R172Q(1)		cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	17		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-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;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)		GACATGTCCCGATCAGGACGG	0.532000													8	46					7.48243e-07	8.66895e-07	1	1	0
ZAK	51776	broad.mit.edu	37	2	174081938	174081938	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr2:174081938A>T	ENST00000338983.3	+	11	1142	c.947A>T	c.(946-948)aAg>aTg	p.K316M	MLTK_ENST00000539448.1_Missense_Mutation_p.K316M|MLK7-AS1_ENST00000423106.2_RNA|MLTK_ENST00000409176.2_Missense_Mutation_p.K316M|MLTK_ENST00000375213.3_Missense_Mutation_p.K316M|MLTK_ENST00000431503.2_Missense_Mutation_p.K215M|MLK7-AS1_ENST00000422703.1_RNA	NM_133646.2	NP_598407.1																					AGACGTTTAAAGATGTGGGAG	0.522000													28	58					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	30935395	30935395	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:30935395C>A	ENST00000355537.3	+	2	1073	c.926C>A	c.(925-927)gCt>gAt	p.A309D		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	309					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)					GACTTCGCGGCTTCGCAGGAG	0.642000													50	141					1.07234e-20	1.59289e-20	1	1	0
GDAP1	54332	broad.mit.edu	37	8	75275219	75275219	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr8:75275219C>T	ENST00000220822.7	+	5	705	c.625C>T	c.(625-627)Ctt>Ttt	p.L209F	GDAP1_ENST00000434412.2_Missense_Mutation_p.L141F|GDAP1_ENST00000521096.1_3'UTR	NM_001040875.2|NM_018972.2	NP_001035808.1|NP_061845.2	Q8TB36	GDAP1_HUMAN	ganglioside induced differentiation associated protein 1	209	GST C-terminal.					cytoplasm		p.L209V(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Breast(64;0.00769)	Myeloproliferative disorder(644;0.0122)	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.104)|all cancers(69;0.234)			GAAGAAAATTCTTGATGAGTT	0.318000													23	33					0	0	1	0	0
ITGA4	3676	broad.mit.edu	37	2	182392052	182392052	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr2:182392052G>T	ENST00000397033.2	+	22	2798	c.2368G>T	c.(2368-2370)Gga>Tga	p.G790*		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	790					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	ATTTGTGTATGGATCAAATGA	0.299000													5	29					5.9392e-07	6.89882e-07	1	1	0
ELL	8178	broad.mit.edu	37	19	18576369	18576369	+	Silent	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:18576369G>A	ENST00000262809.4	-	4	393	c.322C>T	c.(322-324)Ctg>Ttg	p.L108L		NM_006532.3	NP_006523.1	P55199	ELL_HUMAN	elongation factor RNA polymerase II	108					positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	Cajal body|nuclear speck|transcription elongation factor complex	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(5)|prostate(1)	19				GBM - Glioblastoma multiforme(1328;7.81e-07)		AGGCAGTCCAGGTGAACTTCC	0.637000			T	MLL	AL								10	23					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139790633	139790633	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr8:139790633G>A	ENST00000303045.6	-	15	2167	c.1721C>T	c.(1720-1722)cCt>cTt	p.P574L	COL22A1_ENST00000435777.1_Missense_Mutation_p.P574L	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	574	Collagen-like 3.|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)			GGGGAGTCCAGGTGGTCCTTG	0.552000										HNSCC(7;0.00092)			9	29					0	0	1	0	0
CECR2	27443	broad.mit.edu	37	22	18028664	18028664	+	Silent	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr22:18028664G>A	ENST00000262608.8	+	16	3624	c.3624G>A	c.(3622-3624)caG>caA	p.Q1208Q	CECR2_ENST00000400573.4_Silent_p.Q1207Q|CECR2_ENST00000400585.2_Silent_p.Q1065Q	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	1249					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|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)		CAGCCAGTCAGCCTCCCCCAC	0.557000													15	79					0	0	1	0	0
PER3	8863	broad.mit.edu	37	1	7846896	7846896	+	Splice_Site	SNP	A	A	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:7846896A>T	ENST00000377532.3	+	3	614	c.390_splice	c.e3+1	p.T130_splice	PER3_ENST00000377541.1_Splice_Site_p.T130_splice|PER3_ENST00000361923.2_Splice_Site_p.T130_splice			P56645	PER3_HUMAN	period circadian clock 3	130	PAS 1.				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)		CCAAAAACACAGTAAGAATTC	0.453000													14	64					0	0	1	0	0
FAM195A	84331	broad.mit.edu	37	16	698150	698150	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr16:698150G>A	ENST00000307650.4	+	5	622	c.443G>A	c.(442-444)tGg>tAg	p.W148*		NM_138418.2	NP_612427.2	Q9BUT9	F195A_HUMAN	family with sequence similarity 195, member A	148										haematopoietic_and_lymphoid_tissue(1)|kidney(1)	2						GACGAGTGGTGGGCGCAGCAG	0.637000													3	25					0	0	1	0	0
ANKFN1	162282	broad.mit.edu	37	17	54517716	54517716	+	Silent	SNP	T	T	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr17:54517716T>C	ENST00000566473.2	+	8	948	c.948T>C	c.(946-948)tcT>tcC	p.S316S	ANKFN1_ENST00000318698.2_Silent_p.S316S			Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	316	Fibronectin type-III.									NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						AAGACTTTTCTCCTTTGGCTG	0.453000													38	42					0	0	1	0	0
NR5A2	2494	broad.mit.edu	37	1	200014583	200014583	+	Silent	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:200014583C>A	ENST00000367362.3	+	4	580	c.334C>A	c.(334-336)Cga>Aga	p.R112R	NR5A2_ENST00000236914.3_Silent_p.R66R|NR5A2_ENST00000544748.1_Silent_p.R40R	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	112					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)					ATTTTTTAAGCGAACAGTCCA	0.328000													8	50					3.09899e-07	3.62599e-07	1	1	0
IGDCC4	57722	broad.mit.edu	37	15	65678341	65678341	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr15:65678341G>C	ENST00000352385.2	-	18	3217	c.3008C>G	c.(3007-3009)tCc>tGc	p.S1003C		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	1003						integral to membrane|plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						CCGAGCTCTGGAGTACAGCGC	0.657000											OREG0023195	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	7					0	0	1	0	0
PCDH8	5100	broad.mit.edu	37	13	53421200	53421200	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr13:53421200C>T	ENST00000377942.3	-	1	1575	c.1372G>A	c.(1372-1374)Gaa>Aaa	p.E458K	PCDH8_ENST00000338862.4_Missense_Mutation_p.E458K	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	458	Cadherin 4.				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)		GCGATGCGTTCGCGGTCCAGC	0.711000													3	16					0	0	1	0	0
VIP	7432	broad.mit.edu	37	6	153078257	153078257	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr6:153078257C>A	ENST00000367244.3	+	6	666	c.494C>A	c.(493-495)cCa>cAa	p.P165Q	VIP_ENST00000367243.3_Missense_Mutation_p.P164Q	NM_003381.3	NP_003372.1	P01282	VIP_HUMAN	vasoactive intestinal peptide	165					body fluid secretion|G-protein coupled receptor protein signaling pathway|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)		CCCGACTTTCCAGAAGAGTTA	0.403000													20	10					9.57634e-11	1.21767e-10	1	1	0
ZIC1	7545	broad.mit.edu	37	3	147130413	147130413	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr3:147130413G>C	ENST00000282928.4	+	2	1820	c.1091G>C	c.(1090-1092)tGc>tCc	p.C364S		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	364					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						CCCTATCTTTGCAAGATGTGC	0.577000													33	80					0	0	1	0	0
MGAT3	4248	broad.mit.edu	37	22	39884149	39884149	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr22:39884149G>A	ENST00000341184.6	+	2	1012	c.797G>A	c.(796-798)cGc>cAc	p.R266H		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	266					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					GAGTACATCCGCCACAAGGTG	0.637000													27	189					0	0	1	0	0
TBX4	9496	broad.mit.edu	37	17	59544958	59544958	+	Silent	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr17:59544958G>T	ENST00000393853.4	+	5	652	c.489G>T	c.(487-489)cgG>cgT	p.R163R	TBX4_ENST00000240335.1_Silent_p.R163R			P57082	TBX4_HUMAN	T-box 4	163					leg morphogenesis|skeletal system morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						ACTGGATGCGGCAGCTGGTCT	0.617000													15	70					1.3612e-06	1.56654e-06	1	1	0
NAPG	8774	broad.mit.edu	37	18	10534471	10534471	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr18:10534471A>T	ENST00000322897.6	+	5	305	c.236A>T	c.(235-237)gAg>gTg	p.E79V	NAPG_ENST00000542979.1_5'UTR	NM_003826.2	NP_003817.1	Q99747	SNAG_HUMAN	N-ethylmaleimide-sensitive factor attachment protein, gamma	79					cellular membrane fusion|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein complex assembly|protein stabilization	membrane|membrane fraction|mitochondrion	protein binding			large_intestine(2)|lung(2)	4						AGAGCTTATGAGCAAGCTGGA	0.343000													20	25					0	0	1	0	0
ANO5	203859	broad.mit.edu	37	11	22301127	22301127	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:22301127T>A	ENST00000324559.8	+	22	2875	c.2558T>A	c.(2557-2559)aTg>aAg	p.M853K		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	853						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						CTGGCCTGGATGATACCTGAT	0.363000													12	48					0	0	1	0	0
TRIO	7204	broad.mit.edu	37	5	14280534	14280534	+	Silent	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr5:14280534C>A	ENST00000344204.4	+	3	360	c.336C>A	c.(334-336)gcC>gcA	p.A112A	TRIO_ENST00000537187.1_Silent_p.A112A|TRIO_ENST00000509967.2_Silent_p.A63A	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	112	CRAL-TRIO.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					CCTATCTAGCCTGTATTCCCA	0.458000													6	157					0.00307968	0.00321738	1	1	0
SPECC1L	23384	broad.mit.edu	37	22	24759259	24759259	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr22:24759259G>T	ENST00000314328.9	+	12	3059	c.2774G>T	c.(2773-2775)cGg>cTg	p.R925L	SPECC1L_ENST00000541492.1_Missense_Mutation_p.R925L|SPECC1L_ENST00000437398.1_Missense_Mutation_p.R925L|KB-1896H10.1_ENST00000358654.2_3'UTR	NM_001254733.1|NM_015330.3	NP_001241662.1|NP_056145.3	Q69YQ0	CYTSA_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1-like	925					cell cycle|cell division					breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						TCAGCCAGCCGGCCTGCTTCC	0.403000													20	80					1.96292e-10	2.47211e-10	1	1	0
NAGPA	51172	broad.mit.edu	37	16	5077317	5077317	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr16:5077317G>T	ENST00000312251.3	-	8	1257	c.1238C>A	c.(1237-1239)cCc>cAc	p.P413H	NAGPA_ENST00000381955.3_Intron|RP11-165E7.1_ENST00000588778.1_RNA	NM_016256.3	NP_057340.2	Q9UK23	NAGPA_HUMAN	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	413					carbohydrate metabolic process|lysosome organization|protein modification process|protein targeting to lysosome	Golgi cisterna membrane|integral to membrane	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity			endometrium(4)|large_intestine(4)|lung(3)|urinary_tract(1)	12					N-Acetyl-D-glucosamine(DB00141)	GGGGTCACAGGGACAATGGTG	0.627000													23	69					9.57634e-11	1.21767e-10	1	1	0
ZNF74	7625	broad.mit.edu	37	22	20760157	20760157	+	Silent	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr22:20760157C>T	ENST00000400451.2	+	5	1348	c.834C>T	c.(832-834)tgC>tgT	p.C278C	ZNF74_ENST00000405993.1_Silent_p.C246C|ZNF74_ENST00000356671.5_Silent_p.C278C|ZNF74_ENST00000357502.5_3'UTR|ZNF74_ENST00000403682.3_3'UTR	NM_003426.3	NP_003417.2	Q16587	ZNF74_HUMAN	zinc finger protein 74	278					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|nucleus	DNA binding|RNA binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			CTTACAAGTGCGATGAATGCG	0.662000													5	87					0	0	1	0	0
SHC1	6464	broad.mit.edu	37	1	154936388	154936388	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:154936388C>T	ENST00000448116.2	-	12	1866	c.1646G>A	c.(1645-1647)cGc>cAc	p.R549H	SHC1_ENST00000368453.4_Missense_Mutation_p.R439H|SHC1_ENST00000490667.1_5'UTR|SHC1_ENST00000606391.1_Missense_Mutation_p.R349H|SHC1_ENST00000368445.5_Missense_Mutation_p.R548H|SHC1_ENST00000368450.1_Missense_Mutation_p.R438H|SHC1_ENST00000368449.4_Missense_Mutation_p.R319H	NM_001130040.1	NP_001123512.1	P29353	SHC1_HUMAN	SHC (Src homology 2 domain containing) transforming protein 1	548	SH2.				activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|Ras protein signal transduction|regulation of epidermal growth factor receptor activity|regulation of growth	cytosol|mitochondrial matrix|Shc-EGFR complex	epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			ACTTTCAAAGCGGTGATCCTT	0.517000													27	187					0	0	1	0	0
CLIP3	25999	broad.mit.edu	37	19	36517093	36517093	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:36517093C>T	ENST00000360535.4	-	6	864	c.637G>A	c.(637-639)Gcc>Acc	p.A213T	CLIP3_ENST00000593074.1_Missense_Mutation_p.A213T|AC002116.7_ENST00000586962.1_RNA	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	213					chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding			cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CATTTGGCGGCGCCCAGGCAC	0.632000													15	59					0	0	1	0	0
DUSP19	142679	broad.mit.edu	37	2	183960192	183960192	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr2:183960192G>A	ENST00000354221.4	+	4	635	c.460G>A	c.(460-462)Gtt>Att	p.V154I	DUSP19_ENST00000469344.1_3'UTR|AC064871.3_ENST00000444562.1_RNA|AC064871.3_ENST00000413954.1_RNA|DUSP19_ENST00000342619.6_Missense_Mutation_p.V103I	NM_080876.3	NP_543152.1	Q8WTR2	DUS19_HUMAN	dual specificity phosphatase 19	154	Tyrosine-protein phosphatase.				JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|positive regulation of JNK cascade|positive regulation of JUN kinase activity	cytoplasm	JUN kinase phosphatase activity|MAP-kinase scaffold activity|mitogen-activated protein kinase kinase kinase binding|protein kinase activator activity|protein kinase inhibitor activity|protein tyrosine phosphatase activity			breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(4)|pancreas(1)	17						TAATGCAGGCGTTTCCAGGGC	0.348000													17	111					0	0	1	0	0
CYP2A13	1553	broad.mit.edu	37	19	41600928	41600928	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:41600928G>A	ENST00000330436.3	+	8	1226	c.1226G>A	c.(1225-1227)cGg>cAg	p.R409Q		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	409				RDFN -> QDCS (in Ref. 1; AAB40519).	xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Clomipramine(DB01242)|Nicotine(DB00184)	TCCAACCCCCGGGACTTCAAT	0.547000													53	120					0	0	1	0	0
PPFIA4	8497	broad.mit.edu	37	1	203015020	203015020	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:203015020C>T	ENST00000367240.2	+	8	1437	c.910C>T	c.(910-912)Cgc>Tgc	p.R304C	PPFIA4_ENST00000295706.4_5'UTR|PPFIA4_ENST00000414050.2_Missense_Mutation_p.R11C|PPFIA4_ENST00000447715.2_Missense_Mutation_p.R304C			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	232					cell communication	cell surface|cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						ACTGGAGAAGCGCTACCTGGC	0.577000													19	171					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	124028170	124028170	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:124028170C>G	ENST00000422452.2	-	3	573	c.510G>C	c.(508-510)atG>atC	p.M170I	TENM1_ENST00000371130.3_Missense_Mutation_p.M170I	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		CTTGAGCCTCCATGTCACAAC	0.413000													13	56					0	0	1	0	0
OR2AG2	338755	broad.mit.edu	37	11	6789862	6789862	+	Silent	SNP	G	G	A	rs145583606	by1000genomes	TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:6789862G>A	ENST00000338569.2	-	1	424	c.327C>T	c.(325-327)agC>agT	p.S109S		NM_001004490.1	NP_001004490.1	A6NM03	O2AG2_HUMAN	olfactory receptor, family 2, subfamily AG, member 2	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S109S(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GGTCCTCAGCGCTACCCATTG	0.522000													8	70					0	0	1	0	0
OR10H3	26532	broad.mit.edu	37	19	15852501	15852501	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:15852501T>A	ENST00000305892.1	+	1	299	c.299T>A	c.(298-300)aTt>aAt	p.I100N		NM_013938.1	NP_039226.1	O60404	O10H3_HUMAN	olfactory receptor, family 10, subfamily H, member 3	100					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						GCTTGTGCCATTCAGATGTTC	0.502000													13	344					0	0	1	0	0
LAMP1	3916	broad.mit.edu	37	13	113964175	113964175	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr13:113964175A>G	ENST00000332556.4	+	3	595	c.401A>G	c.(400-402)aAa>aGa	p.K134R	LAMP1_ENST00000397181.3_Missense_Mutation_p.K134R	NM_005561.3	NP_005552.3	P11279	LAMP1_HUMAN	lysosomal-associated membrane protein 1	134	First lumenal domain.					endosome membrane|integral to plasma membrane|lysosomal membrane|membrane fraction				NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|skin(1)|stomach(2)	16	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			GCGAGCTCCAAAGGTAAGAAC	0.423000													12	167					0	0	1	0	0
SH2B1	25970	broad.mit.edu	37	16	28878163	28878163	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr16:28878163G>T	ENST00000337120.5	+	1	4039	c.748G>T	c.(748-750)Gaa>Taa	p.E250*	SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000395532.4_Nonsense_Mutation_p.E250*|SH2B1_ENST00000322610.8_Nonsense_Mutation_p.E250*|SH2B1_ENST00000359285.5_Nonsense_Mutation_p.E250*|SH2B1_ENST00000538342.1_Intron|SH2B1_ENST00000545570.1_Intron	NM_001145812.1|NM_015503.2	NP_001139284.1|NP_056318.2	Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	250	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						GGTGCAGAGGGAAGAGCTGCT	0.657000													18	21					1.87028e-06	2.14361e-06	1	1	0
RYR2	6262	broad.mit.edu	37	1	237732593	237732593	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:237732593C>A	ENST00000366574.2	+	29	3889	c.3572C>A	c.(3571-3573)gCt>gAt	p.A1191D	RYR2_ENST00000360064.6_Missense_Mutation_p.A1189D|RYR2_ENST00000542537.1_Missense_Mutation_p.A1175D	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1191	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			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)			TCAGAACTGGCTTTCAAGGAC	0.443000													9	35					0.000673444	0.000712181	1	1	0
HES3	390992	broad.mit.edu	37	1	6304610	6304610	+	Silent	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:6304610C>A	ENST00000377898.3	+	3	149	c.84C>A	c.(82-84)atC>atA	p.I28I		NM_001024598.3	NP_001019769.1	Q5TGS1	HES3_HUMAN	hes family bHLH transcription factor 3	28	Helix-loop-helix motif.				transcription, DNA-dependent	nucleus	DNA binding			lung(2)|skin(1)	3	Ovarian(185;0.0634)	all_cancers(23;2.48e-32)|all_epithelial(116;1.14e-17)|all_lung(118;2.85e-06)|all_neural(13;3.68e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;3.77e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;1.2e-37)|GBM - Glioblastoma multiforme(13;3.2e-29)|OV - Ovarian serous cystadenocarcinoma(86;2.52e-19)|Colorectal(212;1.19e-07)|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;0.00308)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.241)		TCGGGTAGATCCGGAAGCGCA	0.582000													16	17					3.32936e-07	3.88945e-07	1	1	0
ALX4	60529	broad.mit.edu	37	11	44286578	44286578	+	Silent	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:44286578C>T	ENST00000329255.3	-	4	1165	c.1062G>A	c.(1060-1062)ggG>ggA	p.G354G		NM_021926.3	NP_068745.2	Q9H161	ALX4_HUMAN	ALX homeobox 4	354					hair follicle development					central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						GACTGCCAGCCCCAGACACAC	0.687000													11	40					0	0	1	0	0
OR10G8	219869	broad.mit.edu	37	11	123900638	123900638	+	Silent	SNP	T	T	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:123900638T>C	ENST00000431524.1	+	1	342	c.309T>C	c.(307-309)ttT>ttC	p.F103F		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	103					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		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)		TCTATTTCTTTCACTTCCTAG	0.537000													5	182					0	0	1	0	0
MRVI1	10335	broad.mit.edu	37	11	10647847	10647847	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:10647847G>A	ENST00000547195.1	-	8	1261	c.761C>T	c.(760-762)cCg>cTg	p.P254L	MRVI1_ENST00000558540.1_Missense_Mutation_p.P30L|MRVI1_ENST00000552103.1_Missense_Mutation_p.P254L|MRVI1_ENST00000424001.1_Missense_Mutation_p.P30L|MRVI1_ENST00000423302.2_Missense_Mutation_p.P345L|MRVI1_ENST00000527509.2_Missense_Mutation_p.P254L|MRVI1_ENST00000421747.1_Missense_Mutation_p.P336L|MRVI1_ENST00000436272.1_Missense_Mutation_p.P318L|MRVI1_ENST00000531107.1_Missense_Mutation_p.P337L|MRVI1_ENST00000534266.2_Missense_Mutation_p.P30L|MRVI1_ENST00000541483.1_Intron|MRVI1_ENST00000545852.1_Missense_Mutation_p.P30L	NM_001100163.2|NM_001206881.1	NP_001093633.1|NP_001193810.1	Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	318					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)		TGGACTTCTCGGCAGAGGGCT	0.672000													5	20					0	0	1	0	0
WDR17	116966	broad.mit.edu	37	4	177093569	177093569	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr4:177093569C>T	ENST00000393643.2	+	25	3443	c.3191C>T	c.(3190-3192)aCa>aTa	p.T1064I	WDR17_ENST00000508596.1_Missense_Mutation_p.T1049I|WDR17_ENST00000280190.4_Missense_Mutation_p.T1088I|WDR17_ENST00000507824.2_Missense_Mutation_p.T1063I	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	1088										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		TTAGCTGAGACAGCCCGTGCA	0.333000													10	43					0	0	1	0	0
FBXL7	23194	broad.mit.edu	37	5	15936788	15936788	+	Silent	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr5:15936788C>T	ENST00000504595.1	+	4	1450	c.969C>T	c.(967-969)tgC>tgT	p.C323C	FBXL7_ENST00000510662.1_Silent_p.C276C|FBXL7_ENST00000329673.7_Silent_p.C311C	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	323					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						TGATCTACTGCGCCTCCATCA	0.667000													5	76					0	0	1	0	0
AMER1	139285	broad.mit.edu	37	X	63411142	63411142	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:63411142C>A	ENST00000330258.3	-	2	2297	c.2025G>T	c.(2023-2025)caG>caT	p.Q675H	AMER1_ENST00000403336.1_Missense_Mutation_p.Q675H|AMER1_ENST00000374869.3_Missense_Mutation_p.Q675H	NM_152424.3	NP_689637.3			APC membrane recruitment protein 1									p.0?(67)									GGTGGGAAATCTGAGAGGTCC	0.587000													11	21					6.40141e-05	6.99725e-05	1	1	0
CDHR1	92211	broad.mit.edu	37	10	85956357	85956357	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr10:85956357T>A	ENST00000372117.3	+	3	351	c.248T>A	c.(247-249)gTt>gAt	p.V83D	CDHR1_ENST00000332904.3_Missense_Mutation_p.V83D	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	83	Cadherin 1.				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						GTCTTTTCTGTTGACCCCACT	0.562000													20	116					0	0	1	0	0
TCF20	6942	broad.mit.edu	37	22	42608028	42608028	+	Missense_Mutation	SNP	T	T	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr22:42608028T>G	ENST00000359486.3	-	1	3420	c.3284A>C	c.(3283-3285)gAg>gCg	p.E1095A	TCF20_ENST00000335626.4_Missense_Mutation_p.E1095A	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1095					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						TTTATACTCCTCTGGTTGCTG	0.512000													16	57					0	0	1	0	0
YY2	404281	broad.mit.edu	37	X	21874909	21874909	+	Missense_Mutation	SNP	G	G	T	rs147081325		TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:21874909G>T	ENST00000429584.2	+	1	805	c.307G>T	c.(307-309)Gac>Tac	p.D103Y	MBTPS2_ENST00000379484.5_Intron|MBTPS2_ENST00000365779.2_Intron|MBTPS2_ENST00000465888.1_3'UTR	NM_206923.3	NP_996806.2	O15391	TYY2_HUMAN	YY2 transcription factor	103			D -> N (in a breast cancer sample; somatic mutation).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|plasma membrane	DNA binding|zinc ion binding	p.D103N(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	19						CGACTTGGAGGACCAGTTGGC	0.562000													13	90					0.00185496	0.00194515	1	1	0
DSCC1	79075	broad.mit.edu	37	8	120859251	120859251	+	Silent	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr8:120859251G>A	ENST00000313655.4	-	4	770	c.556C>T	c.(556-558)Cta>Tta	p.L186L		NM_024094.2	NP_076999.2	Q9BVC3	DCC1_HUMAN	DNA replication and sister chromatid cohesion 1	186					DNA replication|maintenance of mitotic sister chromatid cohesion|post-translational protein acetylation|regulation of DNA replication	chromatin|chromosome, centromeric region|nucleoplasm	DNA binding|protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|pancreas(1)	9	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			CAGGCATTTAGAACTTGTAAT	0.343000													6	30					0	0	1	0	0
OR2M2	391194	broad.mit.edu	37	1	248343686	248343686	+	Silent	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:248343686C>A	ENST00000359682.2	+	1	399	c.399C>A	c.(397-399)acC>acA	p.T133T		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	133					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)			TAAGATATACCAATCTCATGA	0.393000													90	322					1.79992e-35	2.86734e-35	1	1	0
NINL	22981	broad.mit.edu	37	20	25491333	25491333	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr20:25491333T>C	ENST00000278886.6	-	5	567	c.494A>G	c.(493-495)cAg>cGg	p.Q165R	NINL_ENST00000422516.1_Missense_Mutation_p.Q165R	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	165					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						TAATTCATTCTGAGCTTCTTT	0.522000													18	86					0	0	1	0	0
LRRC4B	94030	broad.mit.edu	37	19	51021620	51021620	+	Silent	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:51021620C>A	ENST00000599957.1	-	3	1547	c.1350G>T	c.(1348-1350)acG>acT	p.T450T	LRRC4B_ENST00000389201.3_Silent_p.T450T			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	450	Ig-like C2-type.					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)		AGACGTTGAGCGTGGCCGAGG	0.706000													19	53					1.85244e-09	2.28927e-09	1	1	0
KIAA2026	158358	broad.mit.edu	37	9	5922726	5922726	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr9:5922726C>A	ENST00000399933.3	-	8	3269	c.3270G>T	c.(3268-3270)atG>atT	p.M1090I	KIAA2026_ENST00000381461.2_Missense_Mutation_p.M1060I	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	1090										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		TAGGATCCACCATAGGCTGCA	0.383000													16	93					1.02788e-11	1.33577e-11	1	1	0
SP110	3431	broad.mit.edu	37	2	231077604	231077604	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr2:231077604C>A	ENST00000258381.6	-	4	532	c.455G>T	c.(454-456)tGt>tTt	p.C152F	SP110_ENST00000258382.5_Missense_Mutation_p.C152F|SP110_ENST00000540870.1_Missense_Mutation_p.C158F|SP110_ENST00000392048.3_Missense_Mutation_p.C152F|SP110_ENST00000338556.3_5'UTR|SP110_ENST00000358662.4_Missense_Mutation_p.C152F|SP110_ENST00000486146.2_5'UTR	NM_080424.2	NP_536349.2	Q9HB58	SP110_HUMAN	SP110 nuclear body protein	152					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)		TCTTGGCGCACAGGGTGAACA	0.602000													46	103					2.29192e-23	3.47819e-23	1	1	0
DLG5	9231	broad.mit.edu	37	10	79584144	79584144	+	Nonsense_Mutation	SNP	T	T	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr10:79584144T>A	ENST00000372391.2	-	14	2385	c.2380A>T	c.(2380-2382)Aag>Tag	p.K794*	DLG5_ENST00000372388.2_Nonsense_Mutation_p.K794*	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	794	PDZ 2.				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)			GCCCTTACCTTCAGGAGGGAC	0.567000													20	21					0	0	1	0	0
MYCBPAP	84073	broad.mit.edu	37	17	48596044	48596044	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr17:48596044G>A	ENST00000323776.5	+	5	902	c.740G>A	c.(739-741)cGt>cAt	p.R247H	MYCBPAP_ENST00000436259.2_Missense_Mutation_p.R210H	NM_032133.4	NP_115509.4	Q8TBZ2	MYBPP_HUMAN	MYCBP associated protein	210					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)			AACTGGCAGCGTAACACAGCC	0.587000													14	163					0	0	1	0	0
POU2F1	5451	broad.mit.edu	37	1	167368544	167368544	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:167368544G>T	ENST00000367862.5	+	12	1593	c.1358G>T	c.(1357-1359)aGc>aTc	p.S453I	POU2F1_ENST00000367866.2_Missense_Mutation_p.S464I|POU2F1_ENST00000420254.3_Missense_Mutation_p.S441I|POU2F1_ENST00000429375.2_Missense_Mutation_p.S401I|POU2F1_ENST00000541643.3_Missense_Mutation_p.S441I|POU2F1_ENST00000367865.1_3'UTR	NM_001198783.1	NP_001185712.1	P14859	PO2F1_HUMAN	POU class 2 homeobox 1	441					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						AACCCACCAAGCAGTGGTGGG	0.438000													33	113					3.66082e-28	5.69038e-28	1	1	0
COMMD4	54939	broad.mit.edu	37	15	75631427	75631427	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr15:75631427C>A	ENST00000267935.8	+	5	482	c.283C>A	c.(283-285)Cag>Aag	p.Q95K	COMMD4_ENST00000564815.1_Missense_Mutation_p.Q73K|COMMD4_ENST00000338995.6_Missense_Mutation_p.Q95K|COMMD4_ENST00000567195.1_Missense_Mutation_p.Q95K|COMMD4_ENST00000562789.1_Missense_Mutation_p.Q101K	NM_017828.3	NP_060298.2	Q9H0A8	COMD4_HUMAN	COMM domain containing 4	95						cytoplasm	protein binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|prostate(1)	10						TGAACTGCAGCAGCTGGGGCT	0.622000													46	97					1.30409e-13	1.75259e-13	1	1	0
ZFP41	286128	broad.mit.edu	37	8	144332049	144332049	+	Silent	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr8:144332049G>A	ENST00000330701.4	+	2	405	c.36G>A	c.(34-36)ccG>ccA	p.P12P	ZFP41_ENST00000522452.1_Silent_p.P12P|ZFP41_ENST00000520584.1_Silent_p.P12P	NM_173832.3	NP_776193.1	Q8N8Y5	ZFP41_HUMAN	ZFP41 zinc finger protein	12					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|lung(4)|ovary(1)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.6e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			AGAAGACGCCGACCCCAAGGG	0.597000													5	25					0	0	1	0	0
KCNN4	3783	broad.mit.edu	37	19	44271811	44271811	+	Silent	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:44271811G>T	ENST00000262888.3	-	8	1563	c.1168C>A	c.(1168-1170)Cgg>Agg	p.R390R		NM_002250.2	NP_002241.1	O15554	KCNN4_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4	390					defense response	voltage-gated potassium channel complex	calcium-activated potassium channel activity|calmodulin binding	p.R390W(1)		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)	TCCAGGGCCCGGTGTGAGCTG	0.622000													24	89					4.7796e-09	5.81065e-09	1	1	0
TRRAP	8295	broad.mit.edu	37	7	98574333	98574333	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr7:98574333G>T	ENST00000359863.4	+	54	8375	c.8166G>T	c.(8164-8166)caG>caT	p.Q2722H	TRRAP_ENST00000446306.3_Missense_Mutation_p.Q2704H|TRRAP_ENST00000355540.3_Missense_Mutation_p.Q2704H	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2722	FAT.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|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)			TGAGTCTTCAGATTAAGCCGA	0.542000													9	77					1.12685e-05	1.25998e-05	1	1	0
PC	5091	broad.mit.edu	37	11	66616775	66616775	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:66616775C>T	ENST00000393960.1	-	22	3495	c.3214G>A	c.(3214-3216)Ggc>Agc	p.G1072S	PC_ENST00000528224.1_5'UTR|PC_ENST00000529047.1_Missense_Mutation_p.G192S|PC_ENST00000393958.2_Missense_Mutation_p.G1072S|PC_ENST00000393955.2_Missense_Mutation_p.G1072S	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN	pyruvate carboxylase	1072					gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	TGCCTCTGGCCGGCCCGGTTC	0.637000													14	70					0	0	1	0	0
EP300	2033	broad.mit.edu	37	22	41527619	41527619	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr22:41527619C>T	ENST00000263253.7	+	6	2729	c.1510C>T	c.(1510-1512)Cgg>Tgg	p.R504W		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	504					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CCAAGGCATGCGGCCCATGAG	0.458000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				4	124					0	0	1	0	0
SEC16A	9919	broad.mit.edu	37	9	139357393	139357393	+	Silent	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr9:139357393C>T	ENST00000313050.7	-	10	4912	c.4839G>A	c.(4837-4839)tcG>tcA	p.S1613S	SEC16A_ENST00000371706.3_Silent_p.S1435S|SEC16A_ENST00000290037.6_Silent_p.S1435S|SEC16A_ENST00000431893.2_Silent_p.S1435S	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	1435					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi 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)		CTCTCTCGAGCGAGCTGGCGG	0.607000													16	64					0	0	1	0	0
PTPRR	5801	broad.mit.edu	37	12	71286551	71286551	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr12:71286551C>A	ENST00000283228.2	-	2	717	c.265G>T	c.(265-267)Gca>Tca	p.A89S		NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	89					in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		GGGTCATATGCGGGTCTAGGA	0.453000													40	101					2.52449e-32	3.99043e-32	1	1	0
TTN	7273	broad.mit.edu	37	2	179542560	179542560	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr2:179542560T>A	ENST00000589042.1	-	146	34303	c.34079A>T	c.(34078-34080)gAa>gTa	p.E11360V	TTN_ENST00000591111.1_Missense_Mutation_p.E11043V|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.E10116V|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11043	Glu-rich.|Pro-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)			AACTTCCTCTTCAGGAACAAT	0.413000													40	89					0	0	1	0	0
LPPR2	64748	broad.mit.edu	37	19	11470244	11470244	+	Missense_Mutation	SNP	C	C	T	rs144674599		TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:11470244C>T	ENST00000251473.5	+	4	479	c.103C>T	c.(103-105)Cgc>Tgc	p.R35C	DKFZP761J1410_ENST00000586431.1_3'UTR|DKFZP761J1410_ENST00000591608.1_Intron	NM_001170635.1|NM_022737.2	NP_001164106.1|NP_073574.2																					GCTTGCTTACCGCCTGGAGTT	0.622000													12	61					0	0	1	0	0
C11orf16	56673	broad.mit.edu	37	11	8948517	8948517	+	Missense_Mutation	SNP	A	A	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:8948517A>C	ENST00000326053.5	-	4	635	c.529T>G	c.(529-531)Ttg>Gtg	p.L177V	C11orf16_ENST00000525780.1_Missense_Mutation_p.L177V	NM_020643.2	NP_065694.2	Q9NQ32	CK016_HUMAN	chromosome 11 open reading frame 16	177										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	22				Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)		TCCAAGCCCAAAAGAACAGTG	0.562000													23	36					0	0	1	0	0
CAMSAP3	57662	broad.mit.edu	37	19	7670159	7670159	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:7670159G>A	ENST00000446248.2	+	2	297	c.196G>A	c.(196-198)Gcg>Acg	p.A66T	CAMSAP3_ENST00000160298.4_Missense_Mutation_p.A66T	NM_001080429.2	NP_001073898.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	66					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						CGACCAGTACGCGCAGGAGCA	0.637000													34	234					0	0	1	0	0
GNAL	2774	broad.mit.edu	37	18	11868660	11868660	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr18:11868660C>A	ENST00000334049.6	+	9	1637	c.1029C>A	c.(1027-1029)aaC>aaA	p.N343K	GNAL_ENST00000423027.3_Missense_Mutation_p.N266K|GNAL_ENST00000269162.5_Missense_Mutation_p.N266K|GNAL_ENST00000602628.1_Missense_Mutation_p.N59K|GNAL_ENST00000535980.1_3'UTR|GNAL_ENST00000535121.1_Missense_Mutation_p.N266K	NM_182978.3	NP_892023.1	P38405	GNAL_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type	266					activation of adenylate cyclase activity by dopamine receptor signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception of smell|synaptic transmission	heterotrimeric G-protein complex	adenylate cyclase activity|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)|large_intestine(4)|liver(1)|lung(4)|ovary(1)	12						TCTGGAACAACAGGTGACAAA	0.433000													10	50					0.000673444	0.000712181	1	1	0
S1PR4	8698	broad.mit.edu	37	19	3179224	3179224	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:3179224C>T	ENST00000246115.3	+	1	489	c.434C>T	c.(433-435)gCc>gTc	p.A145V	S1PR4_ENST00000591346.1_3'UTR	NM_003775.3	NP_003766.1	O95977	S1PR4_HUMAN	sphingosine-1-phosphate receptor 4	145					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			breast(1)|kidney(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						GAGCGCTTTGCCACCATGGTG	0.706000													40	68					0	0	1	0	0
ANO9	338440	broad.mit.edu	37	11	433392	433392	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:433392C>T	ENST00000332826.6	-	4	356	c.272G>A	c.(271-273)cGc>cAc	p.R91H		NM_001012302.2	NP_001012302.2	A1A5B4	ANO9_HUMAN	anoctamin 9	91						chloride channel complex	chloride channel activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						GAGGAAAGTGCGGTACAGGCC	0.642000													21	104					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158596004	158596004	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:158596004C>G	ENST00000368148.3	-	42	6022	c.5842G>C	c.(5842-5844)Gaa>Caa	p.E1948Q	SPTA1_ENST00000461624.1_5'UTR|SPTA1_ENST00000368147.3_Missense_Mutation_p.E1945Q	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1948					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)					AGGCTTGTTTCCTTATCAGCT	0.403000													14	61					0	0	1	0	0
CC2D1A	54862	broad.mit.edu	37	19	14030640	14030640	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:14030640C>A	ENST00000318003.7	+	12	1473	c.1232C>A	c.(1231-1233)cCa>cAa	p.P411Q	CC2D1A_ENST00000589606.1_Missense_Mutation_p.P411Q	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	411					positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			GGCTTCCCCCCAATCCAGGGC	0.592000													23	47					1.10923e-09	1.37307e-09	1	1	0
FAM194A	131831	broad.mit.edu	37	3	150416635	150416635	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr3:150416635C>A	ENST00000295910.6	-	3	548	c.496G>T	c.(496-498)Gta>Tta	p.V166L	FAM194A_ENST00000491361.1_Missense_Mutation_p.V20L	NM_152394.3	NP_689607.2	Q7L0X2	F194A_HUMAN	family with sequence similarity 194, member A	166										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						TGTACTGATACTGGAATTCCT	0.368000													35	97					6.29468e-14	8.5311e-14	1	1	0
SUPT5H	6829	broad.mit.edu	37	19	39955569	39955569	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:39955569G>C	ENST00000599117.1	+	12	1123	c.756G>C	c.(754-756)caG>caC	p.Q252H	SUPT5H_ENST00000598725.1_Missense_Mutation_p.Q252H|SUPT5H_ENST00000359191.6_Missense_Mutation_p.Q248H|SUPT5H_ENST00000432763.2_Missense_Mutation_p.Q252H|SUPT5H_ENST00000402194.2_Missense_Mutation_p.Q248H			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	252	Interaction with SUPT4H1.				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			ACTGGAACCAGCAGATGGTGC	0.582000													45	93					0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189587169	189587169	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr3:189587169C>A	ENST00000264731.3	+	9	1275	c.1186C>A	c.(1186-1188)Cca>Aca	p.P396T	TP63_ENST00000440651.2_Missense_Mutation_p.P392T|TP63_ENST00000392460.3_Missense_Mutation_p.P396T|TP63_ENST00000449992.1_Missense_Mutation_p.P217T|TP63_ENST00000392461.3_Missense_Mutation_p.P302T|TP63_ENST00000418709.2_Missense_Mutation_p.P396T|TP63_ENST00000382063.4_Missense_Mutation_p.P311T|TP63_ENST00000392463.2_Missense_Mutation_p.P302T|TP63_ENST00000437221.1_Missense_Mutation_p.P302T|TP63_ENST00000320472.5_Missense_Mutation_p.P396T|TP63_ENST00000354600.5_Missense_Mutation_p.P302T|TP63_ENST00000456148.1_Missense_Mutation_p.P298T	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	396	Oligomerization.				anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|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)		ACGAAGATCCCCAGATGATGA	0.413000										HNSCC(45;0.13)			12	27					0.000219431	0.000236741	1	1	0
TPX2	22974	broad.mit.edu	37	20	30365315	30365315	+	Silent	SNP	C	C	T	rs142446283		TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr20:30365315C>T	ENST00000340513.4	+	9	1284	c.756C>T	c.(754-756)agC>agT	p.S252S	TPX2_ENST00000300403.6_Silent_p.S252S			Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	252					activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			AATCAGTGAGCCAGGTCACCA	0.428000													11	66					0	0	1	0	0
LTBP2	4053	broad.mit.edu	37	14	74995224	74995224	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr14:74995224G>A	ENST00000261978.4	-	12	2716	c.2330C>T	c.(2329-2331)aCg>aTg	p.T777M	LTBP2_ENST00000556690.1_Missense_Mutation_p.T777M	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	777					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)		CCAGGTGTCCGTGACGACCCG	0.652000													11	95					0	0	1	0	0
OR2AG2	338755	broad.mit.edu	37	11	6789864	6789864	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:6789864T>C	ENST00000338569.2	-	1	422	c.325A>G	c.(325-327)Agc>Ggc	p.S109G		NM_001004490.1	NP_001004490.1	A6NM03	O2AG2_HUMAN	olfactory receptor, family 2, subfamily AG, member 2	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TCCTCAGCGCTACCCATTGTC	0.522000													8	74					0	0	1	0	0
OR5H1	26341	broad.mit.edu	37	3	97852029	97852029	+	Nonsense_Mutation	SNP	T	T	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr3:97852029T>A	ENST00000354565.2	+	1	488	c.488T>A	c.(487-489)tTa>tAa	p.L163*	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	163					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						GAAGGATTTTTATTCAGACTA	0.343000													17	33					0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22156967	22156967	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:22156967C>A	ENST00000397126.4	-	4	1017	c.869G>T	c.(868-870)tGt>tTt	p.C290F	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											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)				GGCTTTGCCACATTCTTCACA	0.388000													6	49					3.59834e-05	3.95641e-05	1	1	0
ZNF667	63934	broad.mit.edu	37	19	56954083	56954083	+	Missense_Mutation	SNP	T	T	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:56954083T>G	ENST00000504904.3	-	7	1000	c.281A>C	c.(280-282)aAg>aCg	p.K94T	ZNF667_ENST00000342634.3_Missense_Mutation_p.K222T|ZNF667_ENST00000591790.1_3'UTR|ZNF667_ENST00000292069.6_Missense_Mutation_p.K94T			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	94					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		TGGAGGTAACTTCTTGGTCTC	0.378000													15	68					0	0	1	0	0
NEIL3	55247	broad.mit.edu	37	4	178272593	178272593	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr4:178272593T>C	ENST00000264596.3	+	7	1047	c.929T>C	c.(928-930)aTg>aCg	p.M310T	RP11-376O6.2_ENST00000506895.1_RNA	NM_018248.2	NP_060718.2	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3 (E. coli)	310					base-excision repair|nucleotide-excision repair	nucleus	bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		GATCATGTTATGGACTCCGTG	0.408000								Base excision repair (BER), DNA glycosylases					30	72					0	0	1	0	0
WNT11	7481	broad.mit.edu	37	11	75902797	75902797	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:75902797G>A	ENST00000322563.3	-	4	825	c.701C>T	c.(700-702)gCt>gTt	p.A234V	RP11-619A14.2_ENST00000527314.1_RNA	NM_004626.2	NP_004617.2	O96014	WNT11_HUMAN	wingless-type MMTV integration site family, member 11	234					adrenal gland development|anterior/posterior pattern formation|artery morphogenesis|axis specification|bone mineralization|cellular response to retinoic acid|cloacal septation|embryonic skeletal system development|endoderm development|lung-associated mesenchyme development|mesonephric duct development|negative regulation of apoptosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell migration|negative regulation of transcription, DNA-dependent|neuroendocrine cell differentiation|neuron differentiation|osteoblast differentiation|outflow tract morphogenesis|palate development|positive regulation of cell migration|positive regulation of protein kinase C signaling cascade|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor-beta2 production|protein localization at cell surface|protein phosphorylation|tight junction assembly|ureteric bud morphogenesis|ventricular septum morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|protein kinase activator activity|Ras GTPase activator activity|transcription regulatory region DNA binding			breast(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20						GAGGTCAGCAGCCACATCCTG	0.627000													31	132					0	0	1	0	0
KCTD13	253980	broad.mit.edu	37	16	29937168	29937168	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr16:29937168C>T	ENST00000568000.1	-	1	1188	c.187G>A	c.(187-189)Gac>Aac	p.D63N	KCTD13_ENST00000568721.1_5'UTR|KCTD13_ENST00000561540.1_Missense_Mutation_p.D63N	NM_178863.3	NP_849194.1	Q8WZ19	BACD1_HUMAN	potassium channel tetramerization domain containing 13	63	BTB.				cell migration|DNA replication|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|nucleus|voltage-gated potassium channel complex	GTP-Rho binding|voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	7						AGCATGGTGTCCTGTCCCGTG	0.657000													17	58					0	0	1	0	0
DDIT4	54541	broad.mit.edu	37	10	74034516	74034516	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr10:74034516A>G	ENST00000307365.3	+	3	470	c.269A>G	c.(268-270)gAa>gGa	p.E90G		NM_019058.2	NP_061931.1	Q9NX09	DDIT4_HUMAN	DNA-damage-inducible transcript 4	90					apoptosis					cervix(1)|endometrium(2)|lung(5)|pancreas(1)|prostate(2)|urinary_tract(1)	12						CCTGAGGATGAACACTTGTGT	0.622000											OREG0020262	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	38	261					0	0	1	0	0
FOXB2	442425	broad.mit.edu	37	9	79634932	79634932	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr9:79634932C>T	ENST00000376708.1	+	1	362	c.362C>T	c.(361-363)gCg>gTg	p.A121V		NM_001013735.1	NP_001013757.1	Q5VYV0	FOXB2_HUMAN	forkhead box B2	121					brain development|embryo 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|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)|lung(8)|ovary(1)	10						CACTTGCACGCGGGAAGCACC	0.687000													13	40					0	0	1	0	0
FAM171A1	221061	broad.mit.edu	37	10	15256602	15256602	+	Splice_Site	SNP	T	T	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr10:15256602T>A	ENST00000378116.4	-	8	993		c.e8-2		FAM171A1_ENST00000477161.1_Splice_Site	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1							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						CACTTCCTCCTGCGCCCAAAG	0.453000													11	28					0	0	1	0	0
TINAG	27283	broad.mit.edu	37	6	54214648	54214648	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr6:54214648C>A	ENST00000259782.4	+	7	1130	c.1034C>A	c.(1033-1035)tCt>tAt	p.S345Y		NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	345					cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			GTAGAAAAATCTAACAGGATC	0.433000													7	48					0.000157383	0.000170454	1	1	0
ERBB4	2066	broad.mit.edu	37	2	212248542	212248542	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr2:212248542T>A	ENST00000342788.4	-	28	4035	c.3725A>T	c.(3724-3726)tAc>tTc	p.Y1242F	ERBB4_ENST00000436443.1_Missense_Mutation_p.Y1226F|ERBB4_ENST00000402597.1_Missense_Mutation_p.Y1232F	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	1242					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)		GTGGTTCCAGTAGTCAGGGTT	0.498000										TSP Lung(8;0.080)			47	86					0	0	1	0	0
CYP4F8	11283	broad.mit.edu	37	19	15728948	15728948	+	RNA	SNP	T	T	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:15728948T>G	ENST00000441682.2	+	0	400							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						CTGTCATCAATACCTCAGGTA	0.552000													47	99					0	0	1	0	0
OR8B12	219858	broad.mit.edu	37	11	124413269	124413269	+	Silent	SNP	T	T	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:124413269T>A	ENST00000306842.2	-	1	306	c.282A>T	c.(280-282)acA>acT	p.T94T		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		TCATACACCCTGTGAAGGAAA	0.443000													18	72					0	0	1	0	0
ALPK1	80216	broad.mit.edu	37	4	113353213	113353213	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr4:113353213G>A	ENST00000458497.1	+	11	2789	c.2510G>A	c.(2509-2511)gGc>gAc	p.G837D	ALPK1_ENST00000504176.2_Missense_Mutation_p.G759D|ALPK1_ENST00000177648.9_Missense_Mutation_p.G837D	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	837							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		AAAAGTGGTGGCCCAGTCGCA	0.552000													7	25					0	0	1	0	0
CYP2A13	1553	broad.mit.edu	37	19	41596036	41596036	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:41596036G>A	ENST00000330436.3	+	3	428	c.428G>A	c.(427-429)cGc>cAc	p.R143H		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	143					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding	p.R143H(1)		breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Clomipramine(DB01242)|Nicotine(DB00184)	GTGGGCAAGCGCGGCATCGAG	0.697000													13	63					0	0	1	0	0
MOGAT1	116255	broad.mit.edu	37	2	223574454	223574454	+	Splice_Site	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr2:223574454G>T	ENST00000446656.3	+	6	853		c.e6-1			NM_058165.2	NP_477513.2	Q96PD6	MOGT1_HUMAN	monoacylglycerol O-acyltransferase 1						glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity			breast(1)|cervix(1)|endometrium(1)|lung(5)|urinary_tract(1)	9		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;2.06e-07)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0105)		CTGATTTGCAGTTGGCCGCCC	0.498000													65	138					1.2582e-26	1.93696e-26	1	1	0
GLRA2	2742	broad.mit.edu	37	X	14748354	14748354	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:14748354G>A	ENST00000218075.4	+	9	1636	c.1106G>A	c.(1105-1107)cGt>cAt	p.R369H	GLRA2_ENST00000355020.4_Missense_Mutation_p.R369H|GLRA2_ENST00000443437.2_Missense_Mutation_p.R280H	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	369					neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)	CGTGAAAGTCGTTTTAATTTT	0.453000													60	300					0	0	1	0	0
SRSF4	6429	broad.mit.edu	37	1	29475146	29475146	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:29475146C>A	ENST00000373795.4	-	6	1495	c.1261G>T	c.(1261-1263)Gaa>Taa	p.E421*	SRSF4_ENST00000546138.1_3'UTR	NM_005626.4	NP_005617.2	Q08170	SRSF4_HUMAN	serine/arginine-rich splicing factor 4	421	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1)	27						TGGCTGGATTCAGACTTGGCA	0.557000													103	250					1.62254e-48	2.62959e-48	1	1	0
MYO18B	84700	broad.mit.edu	37	22	26351272	26351272	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr22:26351272C>G	ENST00000335473.7	+	39	6348	c.6098C>G	c.(6097-6099)gCc>gGc	p.A2033G	MYO18B_ENST00000407587.2_Missense_Mutation_p.A2034G|MYO18B_ENST00000536101.1_Missense_Mutation_p.A2033G	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2033	Tail.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP 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						GAGCTGAAGGCCGACATGGAA	0.642000													32	45					0	0	1	0	0
FOXG1	2290	broad.mit.edu	37	14	29237187	29237187	+	Silent	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr14:29237187C>A	ENST00000382535.3	+	2	1071	c.702C>A	c.(700-702)tcC>tcA	p.S234S	FOXG1_ENST00000313071.4_Silent_p.S234S			P55316	FOXG1_HUMAN	forkhead box G1	234					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)		ACAATCTGTCCCTCAACAAGT	0.587000													18	42					7.41877e-09	8.95685e-09	1	1	0
UGGT1	56886	broad.mit.edu	37	2	128918775	128918775	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr2:128918775A>G	ENST00000375990.3	+	25	3089	c.2686A>G	c.(2686-2688)Atc>Gtc	p.I896V	UGGT1_ENST00000259253.6_Missense_Mutation_p.I920V			Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	920					'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	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						CCTCGAAAATATCATCTTAAA	0.423000													37	82					0	0	1	0	0
SLC25A13	10165	broad.mit.edu	37	7	95775912	95775912	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr7:95775912C>A	ENST00000416240.2	-	14	1601	c.1411G>T	c.(1411-1413)Gct>Tct	p.A471S	SLC25A13_ENST00000542654.1_Missense_Mutation_p.A362S|SLC25A13_ENST00000265631.5_Missense_Mutation_p.A470S	NM_001160210.1|NM_014251.2	NP_001153682.1|NP_055066.1	Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	470					ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity			breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	ACAGACAGAGCACTGACTCGA	0.428000													83	138					1.17611e-34	1.86828e-34	1	1	0
USP6NL	9712	broad.mit.edu	37	10	11505388	11505388	+	Silent	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr10:11505388G>T	ENST00000379237.1	-	15	1933	c.1539C>A	c.(1537-1539)ccC>ccA	p.P513P	USP6NL_ENST00000277575.5_Silent_p.P530P	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like	513						intracellular	Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						CTGCGAGCGCGGGGTGCGCTG	0.592000													89	230					2.18481e-45	3.53064e-45	1	1	0
HTR1E	3354	broad.mit.edu	37	6	87725998	87725998	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr6:87725998C>A	ENST00000305344.4	+	2	1649	c.946C>A	c.(946-948)Ctg>Atg	p.L316M	HTR1E_ENST00000369584.1_Missense_Mutation_p.L316M	NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	316					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	GATTGTGGGTCTGAGCATCTA	0.493000													50	64					1.00221e-16	1.42637e-16	1	1	0
COL4A2	1284	broad.mit.edu	37	13	111092173	111092173	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr13:111092173G>T	ENST00000360467.5	+	16	1256	c.950G>T	c.(949-951)gGa>gTa	p.G317V		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	317	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)			GGATCACCAGGACAGAAGGTA	0.458000													6	48					0.00307968	0.00321738	1	1	0
KCNN1	3780	broad.mit.edu	37	19	18092887	18092887	+	RNA	SNP	A	A	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:18092887A>G	ENST00000601725.1	+	0	503																											GCTGGTCTTCAGCATCTCCTC	0.667000													8	11					0	0	1	0	0
FCHSD1	89848	broad.mit.edu	37	5	141021280	141021280	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr5:141021280G>A	ENST00000435817.2	-	19	2046	c.1996C>T	c.(1996-1998)Cga>Tga	p.R666*	FCHSD1_ENST00000523856.1_5'UTR|FCHSD1_ENST00000522783.1_3'UTR|FCHSD1_ENST00000522126.1_3'UTR	NM_033449.2	NP_258260.1	Q86WN1	FCSD1_HUMAN	FCH and double SH3 domains 1	666	Pro-rich.								FCHSD1/BRAF(2)	central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCCTGAGTCGAGGTGCCATC	0.502000													3	16					0	0	1	0	0
CLEC17A	388512	broad.mit.edu	37	19	14707960	14707960	+	Silent	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:14707960G>T	ENST00000547437.1	+	10	710	c.633G>T	c.(631-633)acG>acT	p.T211T	CLEC17A_ENST00000417570.1_Silent_p.T211T|CLEC17A_ENST00000397439.2_Silent_p.T194T	NM_207390.3	NP_997273.3	Q6ZS10	CL17A_HUMAN	C-type lectin domain family 17, member A	211						cell surface|integral to membrane	fucose binding|mannose binding|metal ion binding|receptor activity										AGCAGATGACGTGGCGAACAA	0.488000													7	14					0.335167	0.336217	1	1	0
KCNU1	157855	broad.mit.edu	37	8	36768597	36768597	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr8:36768597G>T	ENST00000399881.3	+	22	2518	c.2481G>T	c.(2479-2481)ttG>ttT	p.L827F		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	827						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TCGGATCCTTGCAAATTGACT	0.502000													15	21					9.16793e-09	1.10498e-08	1	1	0
HMGCS1	3157	broad.mit.edu	37	5	43292707	43292707	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr5:43292707G>C	ENST00000325110.6	-	10	1548	c.1342C>G	c.(1342-1344)Ctc>Gtc	p.L448V	HMGCS1_ENST00000433297.2_Missense_Mutation_p.L448V	NM_001098272.2	NP_001091742.1	Q01581	HMCS1_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble)	448					cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|soluble fraction	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1)	15						CCTTCAAAGAGTGAATCTATT	0.393000													7	116					0	0	1	0	0
PPP2R3A	5523	broad.mit.edu	37	3	135806729	135806729	+	Silent	SNP	A	A	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr3:135806729A>G	ENST00000264977.3	+	9	3410	c.2793A>G	c.(2791-2793)tcA>tcG	p.S931S	PPP2R3A_ENST00000490467.1_Silent_p.S195S|PPP2R3A_ENST00000334546.2_Silent_p.S310S	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	931					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						ATTTAGCTTCATCAAGCAGGA	0.318000													11	46					0	0	1	0	0
HELZ2	85441	broad.mit.edu	37	20	62193247	62193247	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr20:62193247C>A	ENST00000467148.1	-	11	6689	c.6620G>T	c.(6619-6621)gGg>gTg	p.G2207V	HELZ2_ENST00000427522.2_Missense_Mutation_p.G1638V	NM_001037335.2	NP_001032412.2			helicase with zinc finger 2, transcriptional coactivator																		CCGCTTCTCCCCACGGGGGGG	0.647000													7	12					2.0095e-06	2.29496e-06	1	1	0
BAGE2	85319	broad.mit.edu	37	21	11038941	11038941	+	RNA	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr21:11038941C>A	ENST00000470054.1	-	0	1262									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CTTATGTCTGCTGATAATGAA	0.423000													20	367					0.00047179	0.000502719	1	1	0
PCDH19	57526	broad.mit.edu	37	X	99657785	99657785	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:99657785C>A	ENST00000373034.4	-	3	4028	c.2353G>T	c.(2353-2355)Gac>Tac	p.D785Y	PCDH19_ENST00000420881.2_Missense_Mutation_p.D738Y|PCDH19_ENST00000255531.7_Missense_Mutation_p.D738Y	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	785					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						AGGCGGATGTCATTCTTACTG	0.448000													15	25					1.05317e-09	1.30512e-09	1	1	0
KCNK2	3776	broad.mit.edu	37	1	215259847	215259847	+	Silent	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:215259847G>T	ENST00000444842.2	+	2	333	c.183G>T	c.(181-183)acG>acT	p.T61T	KCNK2_ENST00000391895.2_Silent_p.T57T|KCNK2_ENST00000391894.2_Silent_p.T46T	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	61							outward rectifier potassium channel activity	p.T46T(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)	AATGGAAGACGGTCTCCACGA	0.507000													15	54					6.72482e-11	8.5752e-11	1	1	0
INSRR	3645	broad.mit.edu	37	1	156823735	156823735	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:156823735T>C	ENST00000368195.3	-	2	842	c.446A>G	c.(445-447)cAc>cGc	p.H149R	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	149					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)					GGTGGAGAGGTGGCAGAGCTC	0.627000													31	17					0	0	1	0	0
VWA5A	4013	broad.mit.edu	37	11	124005729	124005729	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:124005729G>C	ENST00000456829.2	+	12	1598	c.1347G>C	c.(1345-1347)agG>agC	p.R449S	VWA5A_ENST00000360334.4_Intron|VWA5A_ENST00000392748.1_Missense_Mutation_p.R449S	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	449	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						GCAAAGACAGGATGCAGTCCA	0.532000													8	35					0	0	1	0	0
CEP170B	283638	broad.mit.edu	37	14	105353560	105353560	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr14:105353560C>T	ENST00000453495.1	+	12	3215	c.2987C>T	c.(2986-2988)cCg>cTg	p.P996L	CEP170B_ENST00000414716.3_Missense_Mutation_p.P995L|CEP170B_ENST00000418279.1_Missense_Mutation_p.P925L|CEP170B_ENST00000556508.1_Missense_Mutation_p.P925L					centrosomal protein 170B																		GCACAGGACCCGGGAGGCACC	0.697000													29	36					0	0	1	0	0
GAA	2548	broad.mit.edu	37	17	78093091	78093091	+	Silent	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr17:78093091G>A	ENST00000302262.3	+	20	3039	c.2820G>A	c.(2818-2820)tcG>tcA	p.S940S	GAA_ENST00000390015.3_Silent_p.S940S	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	940					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)	TCTGTGTCTCGCTGTTGATGG	0.592000													18	115					0	0	1	0	0
ZBTB1	22890	broad.mit.edu	37	14	64988384	64988384	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr14:64988384G>T	ENST00000358738.3	+	2	553	c.162G>T	c.(160-162)atG>atT	p.M54I	ZBTB1_ENST00000554015.1_Missense_Mutation_p.M54I|ZBTB1_ENST00000394712.2_Missense_Mutation_p.M54I|RP11-973N13.4_ENST00000554918.1_RNA	NM_014950.2	NP_055765.2	Q9Y2K1	ZBTB1_HUMAN	zinc finger and BTB domain containing 1	54	BTB.				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)		TGTTTTTCATGAACCATCAGC	0.353000													31	39					3.1745e-13	4.22575e-13	1	1	0
AIM2	9447	broad.mit.edu	37	1	159035755	159035755	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:159035755G>A	ENST00000368130.4	-	4	1049	c.761C>T	c.(760-762)aCg>aTg	p.T254M	AIM2_ENST00000481829.1_5'UTR	NM_004833.1	NP_004824.1	O14862	AIM2_HUMAN	absent in melanoma 2	254	HIN-200.				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)					AGTTTGAAGCGTGTTGATCTT	0.393000													38	108					0	0	1	0	0
COL24A1	255631	broad.mit.edu	37	1	86482852	86482852	+	Silent	SNP	A	A	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:86482852A>C	ENST00000370571.2	-	19	2658	c.2292T>G	c.(2290-2292)tcT>tcG	p.S764S	COL24A1_ENST00000436319.1_Silent_p.S764S	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	764	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)		CTGGAGGGCCAGATGGTCCTT	0.368000													5	12					0	0	1	0	0
CSRNP3	80034	broad.mit.edu	37	2	166536039	166536039	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr2:166536039G>T	ENST00000314499.7	+	7	1910	c.1534G>T	c.(1534-1536)Ggt>Tgt	p.G512C	CSRNP3_ENST00000342316.4_Missense_Mutation_p.G512C|CSRNP3_ENST00000409420.1_Missense_Mutation_p.G544C	NM_001172173.1	NP_001165644.1	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	512					apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						AAATGATAGCGGTGTGCCCTG	0.507000													18	30					2.35188e-11	3.04225e-11	1	1	0
TAS1R3	83756	broad.mit.edu	37	1	1267222	1267222	+	Silent	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:1267222G>A	ENST00000339381.5	+	2	428	c.396G>A	c.(394-396)acG>acA	p.T132T		NM_152228.1	NP_689414.1	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3	132					detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)	Aspartame(DB00168)	GCAACTACACGCAGTACCAGC	0.622000													8	57					0	0	1	0	0
PDHA2	5161	broad.mit.edu	37	4	96761365	96761365	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr4:96761365C>A	ENST00000295266.4	+	1	127	c.64C>A	c.(64-66)Ctg>Atg	p.L22M		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	22					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	TCGCAGAGTGCTGGTGGCATC	0.527000													13	36					0.000308642	0.000330131	1	1	0
EEF2	1938	broad.mit.edu	37	19	3983168	3983168	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:3983168C>A	ENST00000309311.6	-	3	428	c.340G>T	c.(340-342)Gag>Tag	p.E114*		NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	114						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)		GCAGTCACCTCCGAGGAGAAG	0.612000													19	48					2.4624e-09	3.02639e-09	1	1	0
SYT16	83851	broad.mit.edu	37	14	62547585	62547585	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr14:62547585G>T	ENST00000430451.2	+	4	1224	c.1027G>T	c.(1027-1029)Ggg>Tgg	p.G343W	SYT16_ENST00000446982.2_Silent_p.P372P|RP11-355I22.5_ENST00000553990.1_lincRNA	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	343										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)		GGTGCCATCCGGGGTCTCAGA	0.493000													5	11					3.59834e-05	3.95641e-05	1	1	0
INSR	3643	broad.mit.edu	37	19	7143058	7143058	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:7143058T>C	ENST00000341500.5	-	11	2314	c.2275A>G	c.(2275-2277)Acg>Gcg	p.T759A	INSR_ENST00000302850.5_Missense_Mutation_p.T771A	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN	insulin receptor	771	Fibronectin type-III 2.				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|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|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|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			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)	ACGGCCACCGTCACATTCCCA	0.537000													7	58					0	0	1	0	0
RNF133	168433	broad.mit.edu	37	7	122338491	122338491	+	Missense_Mutation	SNP	G	G	A	rs147690048		TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr7:122338491G>A	ENST00000340112.2	-	1	719	c.482C>T	c.(481-483)aCg>aTg	p.T161M	CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000313070.7_Intron	NM_139175.1	NP_631914.1	Q8WVZ7	RN133_HUMAN	ring finger protein 133	161	PA.					endoplasmic reticulum membrane|integral to membrane	ligase activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						GAAAATTTCCGTGCCTTTTAA	0.413000													59	71					0	0	1	0	0
INPP5E	56623	broad.mit.edu	37	9	139333264	139333264	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr9:139333264G>A	ENST00000371712.3	-	1	1010	c.608C>T	c.(607-609)tCc>tTc	p.S203F		NM_019892.4	NP_063945.2	Q9NRR6	INP5E_HUMAN	inositol polyphosphate-5-phosphatase, 72 kDa	203	13 X 4 AA repeats of P-X-X-P.					cilium axoneme|cytoskeleton|Golgi cisterna membrane	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	p.S203F(1)		NS(1)|endometrium(1)|lung(4)|skin(3)	9		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05)		CAGGGAGTCGGAGGCGATGTC	0.716000													11	22					0	0	1	0	0
PCDHGA9	56107	broad.mit.edu	37	5	140782901	140782901	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr5:140782901G>A	ENST00000573521.1	+	1	382	c.382G>A	c.(382-384)Gac>Aac	p.D128N	PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGATATTAACGACAGCGCCCC	0.468000													4	116					0	0	1	0	0
MRPL1	65008	broad.mit.edu	37	4	78806483	78806483	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr4:78806483T>A	ENST00000315567.8	+	4	805	c.476T>A	c.(475-477)gTa>gAa	p.V159E	MRPL1_ENST00000506674.1_3'UTR	NM_020236.3	NP_064621.3	Q9BYD6	RM01_HUMAN	mitochondrial ribosomal protein L1	159							RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)	17						AAAGTTGCTGTATTTACAGAG	0.378000													13	53					0	0	1	0	0
POSTN	10631	broad.mit.edu	37	13	38160960	38160960	+	Missense_Mutation	SNP	G	G	C	rs144505887		TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr13:38160960G>C	ENST00000379747.4	-	6	829	c.712C>G	c.(712-714)Caa>Gaa	p.Q238E	POSTN_ENST00000379742.4_Missense_Mutation_p.Q238E|POSTN_ENST00000541179.1_Missense_Mutation_p.Q238E|POSTN_ENST00000541481.1_Missense_Mutation_p.Q238E|POSTN_ENST00000379749.4_Missense_Mutation_p.Q238E|POSTN_ENST00000379743.4_Missense_Mutation_p.Q238E	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	238	FAS1 2.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		ATGAAGTCTTGAATTGAGGTA	0.403000													6	41					0	0	1	0	0
CPEB1	64506	broad.mit.edu	37	15	83240228	83240228	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr15:83240228G>C	ENST00000563800.1	-	3	2051	c.326C>G	c.(325-327)gCg>gGg	p.A109G	CPEB1_ENST00000423133.2_Missense_Mutation_p.A7G|CPEB1_ENST00000398592.2_5'UTR|CPEB1_ENST00000568128.1_Missense_Mutation_p.A82G|CPEB1_ENST00000562019.1_Missense_Mutation_p.A82G|CPEB1_ENST00000564522.1_Missense_Mutation_p.A7G|CPEB1_ENST00000568757.1_Missense_Mutation_p.A7G|CPEB1_ENST00000450751.2_Missense_Mutation_p.A7G|CPEB1_ENST00000261723.6_Missense_Mutation_p.A85G|CPEB1_ENST00000398591.2_Missense_Mutation_p.A7G			Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding protein 1	82					mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28			BRCA - Breast invasive adenocarcinoma(143;0.229)			AGATTCTTGCGCAGAGGTTGG	0.542000													48	97					0	0	1	0	0
PIK3C2B	5287	broad.mit.edu	37	1	204415187	204415187	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:204415187T>A	ENST00000367187.3	-	17	3131	c.2575A>T	c.(2575-2577)Agc>Tgc	p.S859C	PIK3C2B_ENST00000424712.2_Intron	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	859					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)			CTGGGGGCGCTGGCGAGCACC	0.627000											OREG0014135	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	42	107					0	0	1	0	0
C19orf40	91442	broad.mit.edu	37	19	33465102	33465102	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:33465102G>T	ENST00000588258.1	+	4	490	c.380G>T	c.(379-381)tGc>tTc	p.C127F	C19orf40_ENST00000589646.1_Missense_Mutation_p.C32F|C19orf40_ENST00000590281.1_Missense_Mutation_p.C127F|C19orf40_ENST00000590179.1_Missense_Mutation_p.C32F	NM_152266.3	NP_689479.1	Q9BTP7	FAP24_HUMAN	chromosome 19 open reading frame 40	127					DNA repair	Fanconi anaemia nuclear complex	chromatin binding|DNA binding|protein binding			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7	Esophageal squamous(110;0.137)					GAAGCATCCTGCCTCGTCATC	0.527000								Direct reversal of damage					16	40					1.45105e-14	1.99187e-14	1	1	0
CLDN1	9076	broad.mit.edu	37	3	190026123	190026123	+	Silent	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr3:190026123G>A	ENST00000295522.3	-	4	847	c.579C>T	c.(577-579)taC>taT	p.Y193Y		NM_021101.4	NP_066924.1	O95832	CLD1_HUMAN	claudin 1	193					calcium-independent cell-cell adhesion|interspecies interaction between organisms	integral to plasma membrane|tight junction	identical protein binding|structural molecule activity			lung(9)	9	all_cancers(143;2.95e-10)|Ovarian(172;0.0512)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.015)		TTGGTGTTGGGTAAGAGGTTG	0.502000													38	94					0	0	1	0	0
SEMA6B	10501	broad.mit.edu	37	19	4544472	4544472	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:4544472G>A	ENST00000586582.1	-	17	2118	c.1808C>T	c.(1807-1809)tCg>tTg	p.S603L	SEMA6B_ENST00000301293.3_Missense_Mutation_p.S603L|SEMA6B_ENST00000586965.1_Missense_Mutation_p.S603L	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B	603					cell differentiation|nervous system development	integral to membrane	receptor activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCCGCCACCGACGACGTTAC	0.721000													6	29					0	0	1	0	0
CROCC	9696	broad.mit.edu	37	1	17257835	17257835	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:17257835G>T	ENST00000375541.5	+	8	968	c.899G>T	c.(898-900)tGg>tTg	p.W300L	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	300					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		CTCCTCCTCTGGAGGCAGGTG	0.637000													25	149					3.69857e-22	5.54538e-22	1	1	0
UGGT2	55757	broad.mit.edu	37	13	96599352	96599352	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr13:96599352C>T	ENST00000376747.3	-	15	1686	c.1616G>A	c.(1615-1617)cGa>cAa	p.R539Q		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	539					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity	p.R539Q(1)		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						GTTGAAAGCTCGCCAGAGAGC	0.343000													9	55					0	0	1	0	0
ITGA11	22801	broad.mit.edu	37	15	68612718	68612718	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr15:68612718C>A	ENST00000423218.2	-	20	2516	c.2421G>T	c.(2419-2421)caG>caT	p.Q807H	ITGA11_ENST00000315757.7_Missense_Mutation_p.Q807H			Q9UKX5	ITA11_HUMAN	integrin, alpha 11	807					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	TCAGCACCCTCTGGCAGTACT	0.592000													8	10					0.00307968	0.00321738	1	1	0
CNTF	1270	broad.mit.edu	37	11	58390330	58390330	+	Silent	SNP	G	G	A	rs143821189		TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:58390330G>A	ENST00000361987.4	+	1	185	c.105G>A	c.(103-105)acG>acA	p.T35T	ZFP91-CNTF_ENST00000389919.4_3'UTR	NM_000614.3	NP_000605.1	P26441	CNTF_HUMAN	ciliary neurotrophic factor	35					ciliary neurotrophic factor-mediated signaling pathway|growth|negative regulation of neuron apoptosis|positive regulation of tyrosine phosphorylation of Stat3 protein		ciliary neurotrophic factor receptor binding|growth factor activity|interleukin-6 receptor binding			NS(1)|breast(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1)	10		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				CTGCTCTTACGGAATCCTATG	0.473000													3	26					0	0	1	0	0
GLI2	2736	broad.mit.edu	37	2	121726385	121726385	+	Missense_Mutation	SNP	C	C	T	rs138556334		TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr2:121726385C>T	ENST00000452319.1	+	6	799	c.739C>T	c.(739-741)Cgg>Tgg	p.R247W	GLI2_ENST00000361492.4_Missense_Mutation_p.R247W|GLI2_ENST00000314490.11_5'UTR|GLI2_ENST00000435313.2_3'UTR			P10070	GLI2_HUMAN	GLI family zinc finger 2	247					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)				GGACCTGCAGCGGATGATCCG	0.667000													4	98					0	0	1	0	0
OCM2	4951	broad.mit.edu	37	7	97617751	97617751	+	Silent	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr7:97617751C>A	ENST00000257627.4	-	2	262	c.171G>T	c.(169-171)ggG>ggT	p.G57G	OCM2_ENST00000473987.2_5'UTR	NM_006188.3	NP_006179.2	P0CE71	OCM2_HUMAN	oncomodulin 2	57	EF-hand 1.						calcium ion binding			lung(4)	4						CATCCAGATACCCGCTCTGGT	0.537000													17	100					1.67942e-08	2.01872e-08	1	1	0
KIAA1324L	222223	broad.mit.edu	37	7	86544070	86544070	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr7:86544070C>G	ENST00000450689.2	-	13	1885	c.1700G>C	c.(1699-1701)tGg>tCg	p.W567S	KIAA1324L_ENST00000490995.1_5'UTR|KIAA1324L_ENST00000297222.6_Missense_Mutation_p.W327S|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.W400S|KIAA1324L_ENST00000444627.1_Missense_Mutation_p.W567S	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	567						integral to membrane				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					CTGGAATGCCCATGTAAATGT	0.363000													11	41					0	0	1	0	0
KRT24	192666	broad.mit.edu	37	17	38859560	38859560	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr17:38859560C>A	ENST00000264651.2	-	1	442	c.386G>T	c.(385-387)gGt>gTt	p.G129V		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	129	Gly-rich.|Head.					cytoplasm|intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				ATCGCCAACACCACCTCCCAT	0.537000													22	227					2.89027e-11	3.72579e-11	1	1	0
FAM154A	158297	broad.mit.edu	37	9	18928802	18928802	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr9:18928802C>A	ENST00000380534.4	-	4	952	c.673G>T	c.(673-675)Gag>Tag	p.E225*	FAM154A_ENST00000380530.1_3'UTR|FAM154A_ENST00000542071.1_Nonsense_Mutation_p.E33*	NM_153707.2	NP_714918.2	Q8IYX7	F154A_HUMAN	family with sequence similarity 154, member A	225										breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(50;6.53e-16)		CTGAACTTCTCTGCTTCATGC	0.527000													10	66					1.58986e-06	1.82314e-06	1	1	0
THOC2	57187	broad.mit.edu	37	X	122799684	122799684	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:122799684C>T	ENST00000245838.8	-	12	1226	c.1195G>A	c.(1195-1197)Gga>Aga	p.G399R	THOC2_ENST00000491737.1_Missense_Mutation_p.G284R|THOC2_ENST00000355725.4_Missense_Mutation_p.G399R	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	399					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						TTAGGAACTCCAACTCTATTT	0.299000													12	74					0	0	1	0	0
FOXI1	2299	broad.mit.edu	37	5	169533468	169533468	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr5:169533468C>A	ENST00000449804.2	+	1	552	c.507C>A	c.(505-507)aaC>aaA	p.N169K	FOXI1_ENST00000306268.6_Missense_Mutation_p.N169K	NM_012188.4|NM_144769.2	NP_036320.2|NP_658982.1	Q12951	FOXI1_HUMAN	forkhead box I1	169					epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCTGGCAGAACTCCATCCGCC	0.617000									Pendred syndrome				7	16					0.0293803	0.0299002	1	1	0
UROC1	131669	broad.mit.edu	37	3	126207048	126207048	+	Missense_Mutation	SNP	C	C	A	rs150770424	byFrequency	TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr3:126207048C>A	ENST00000290868.2	-	18	1836	c.1783G>T	c.(1783-1785)Gtg>Ttg	p.V595L	UROC1_ENST00000383579.3_Missense_Mutation_p.V655L	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	595					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)		TACCAGCCCACGCCCCCTCCG	0.607000													58	170					6.1719e-39	9.9095e-39	1	1	0
LIMK2	3985	broad.mit.edu	37	22	31655955	31655955	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr22:31655955A>G	ENST00000331728.4	+	5	557	c.443A>G	c.(442-444)tAc>tGc	p.Y148C	LIMK2_ENST00000444929.2_Intron|LIMK2_ENST00000406516.1_Missense_Mutation_p.Y70C|LIMK2_ENST00000340552.4_Missense_Mutation_p.Y127C|LIMK2_ENST00000333611.4_Missense_Mutation_p.Y127C	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2	148						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						CAGCTGCCCTACTCTGTCACG	0.612000													6	82					0	0	1	0	0
DNA2	1763	broad.mit.edu	37	10	70231740	70231740	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr10:70231740C>A	ENST00000399180.2	-	1	139	c.140G>T	c.(139-141)cGg>cTg	p.R47L	DNA2_ENST00000399179.2_5'UTR			P51530	DNA2L_HUMAN	DNA replication helicase/nuclease 2	0					base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						TGCGCCAACCCGCAGATGTCC	0.637000													17	35					3.41278e-10	4.29085e-10	1	1	0
SRL	6345	broad.mit.edu	37	16	4292063	4292063	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr16:4292063C>A	ENST00000399609.3	-	1	18	c.6G>T	c.(4-6)agG>agT	p.R2S		NM_001098814.1	NP_001092284.1	Q86TD4	SRCA_HUMAN	sarcalumenin	2						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						GGACCAGCGCCCTCATGGTGA	0.667000													10	15					0.00829132	0.008594	1	1	0
USP6	9098	broad.mit.edu	37	17	5041500	5041500	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr17:5041500C>G	ENST00000574788.1	+	21	3240	c.1010C>G	c.(1009-1011)aCc>aGc	p.T337S	USP6_ENST00000304328.5_5'UTR|USP6_ENST00000250066.6_Missense_Mutation_p.T337S|USP6_ENST00000332776.4_Missense_Mutation_p.T337S			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	337					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|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						AACGATGACACCGTGCTCAAG	0.582000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts								49	74					0	0	1	0	0
DPT	1805	broad.mit.edu	37	1	168683484	168683484	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:168683484T>A	ENST00000367817.3	-	2	495	c.406A>T	c.(406-408)Agc>Tgc	p.S136C		NM_001937.4	NP_001928.2	Q07507	DERM_HUMAN	dermatopontin	136	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)					CACCTCTTGCTGTAGCGACAA	0.572000													17	60					0	0	1	0	0
UGT2B4	7363	broad.mit.edu	37	4	70359461	70359461	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr4:70359461C>T	ENST00000305107.6	-	2	866	c.820G>A	c.(820-822)Gtt>Att	p.V274I	UGT2B4_ENST00000512583.1_Missense_Mutation_p.V274I|UGT2B4_ENST00000381096.3_Missense_Mutation_p.V138I|UGT2B4_ENST00000506580.1_5'UTR	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	274					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						ACGAACTCAACATTTGGTAAG	0.428000													47	108					0	0	1	0	0
DOCK7	85440	broad.mit.edu	37	1	62941827	62941827	+	Splice_Site	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:62941827C>A	ENST00000251157.5	-	44	5635	c.5601_splice	c.e44-1	p.G1868_splice	DOCK7_ENST00000340370.5_Splice_Site_p.G1848_splice|DOCK7_ENST00000489185.1_5'UTR	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1879	DHR-2.				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|guanyl-nucleotide exchange factor activity|Rac GTPase binding			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						CCGTAAAATCCCTACAATAAA	0.348000													14	22					9.31168e-06	1.04378e-05	1	1	0
P4HA3	283208	broad.mit.edu	37	11	73997406	73997406	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:73997406A>G	ENST00000331597.4	-	6	845	c.800T>C	c.(799-801)gTc>gCc	p.V267A	P4HA3_ENST00000427714.2_Missense_Mutation_p.V267A	NM_182904.3	NP_878907.1	Q7Z4N8	P4HA3_HUMAN	prolyl 4-hydroxylase, alpha polypeptide III	267						endoplasmic reticulum lumen	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1)	15	Breast(11;2.31e-05)					ATATTTCAAGACATTCCTGGC	0.507000													9	215					0	0	1	0	0
BICC1	80114	broad.mit.edu	37	10	60588635	60588635	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr10:60588635T>A	ENST00000373886.3	+	21	2913	c.2909T>A	c.(2908-2910)gTc>gAc	p.V970D		NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	bicaudal C homolog 1 (Drosophila)	970					multicellular organismal development		RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						ATTGCTAGTGTCAGTGGCCGC	0.527000													27	51					0	0	1	0	0
KLHL1	57626	broad.mit.edu	37	13	70314688	70314688	+	Splice_Site	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr13:70314688C>A	ENST00000377844.4	-	8	2399	c.1639_splice	c.e8-1	p.G547_splice	KLHL1_ENST00000545028.1_Splice_Site_p.G354_splice	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	547					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		TACTGTTACACCTAAAATATT	0.383000													26	24					9.57634e-11	1.21767e-10	1	1	0
FAM135B	51059	broad.mit.edu	37	8	139164690	139164690	+	Silent	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr8:139164690G>T	ENST00000395297.1	-	13	2198	c.2028C>A	c.(2026-2028)atC>atA	p.I676I		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	676										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)			AAGATCTCTTGATGACCCCGG	0.527000										HNSCC(54;0.14)			18	35					1.55795e-14	2.13078e-14	1	1	0
CNTNAP3B	728577	broad.mit.edu	37	9	43816743	43816743	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr9:43816743G>T	ENST00000377564.3	+	6	1242	c.849G>T	c.(847-849)caG>caT	p.Q283H	CNTNAP3B_ENST00000276974.6_Missense_Mutation_p.Q283H	NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN	contactin associated protein-like 3B	283	Laminin G-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						TCGACACGCAGGTCAACTTCA	0.473000													12	63					4.36969e-10	5.48166e-10	1	1	0
SLC5A6	8884	broad.mit.edu	37	2	27427724	27427724	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr2:27427724T>A	ENST00000310574.3	-	8	1283	c.810A>T	c.(808-810)ttA>ttT	p.L270F	SLC5A6_ENST00000408041.1_Missense_Mutation_p.L270F	NM_021095.2	NP_066918.2	Q9Y289	SC5A6_HUMAN	solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6	270					biotin metabolic process|pantothenate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent multivitamin transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|Lipoic Acid(DB00166)	TCACCCCGTATAAGGAGAGCA	0.587000													22	52					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181687190	181687190	+	Splice_Site	SNP	G	G	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:181687190G>C	ENST00000526775.1	+	12	1690		c.e12-1		CACNA1E_ENST00000367573.2_Splice_Site|CACNA1E_ENST00000367567.4_Splice_Site|CACNA1E_ENST00000357570.5_Splice_Site|CACNA1E_ENST00000367570.1_Splice_Site|CACNA1E_ENST00000358338.5_Splice_Site|CACNA1E_ENST00000360108.3_Splice_Site	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit						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						AATACTTCCAGACTATGCAGA	0.468000													3	11					0	0	1	0	0
IWS1	55677	broad.mit.edu	37	2	128262421	128262421	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr2:128262421C>A	ENST00000295321.4	-	3	1317	c.1058G>T	c.(1057-1059)aGc>aTc	p.S353I	IWS1_ENST00000455721.2_Missense_Mutation_p.S360I|AC010976.2_ENST00000599001.1_RNA	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	353	Glu-rich.				transcription, DNA-dependent	nucleus	DNA binding			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		GTCCATATGGCTGTCTGAATG	0.438000													54	150					3.19069e-20	4.72078e-20	1	1	0
PLXDC2	84898	broad.mit.edu	37	10	20290769	20290769	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr10:20290769G>A	ENST00000377252.3	+	2	1019	c.178G>A	c.(178-180)Gcg>Acg	p.A60T	PLXDC2_ENST00000377242.3_Missense_Mutation_p.A60T	NM_032812.7	NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	60						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						TGATTCACACGCGTACAGCCA	0.502000													21	49					0	0	1	0	0
MCC	4163	broad.mit.edu	37	5	112458519	112458519	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr5:112458519C>A	ENST00000302475.4	-	4	882	c.319G>T	c.(319-321)Gaa>Taa	p.E107*	MCC_ENST00000408903.3_Nonsense_Mutation_p.E297*|MCC_ENST00000514701.3_5'UTR|MCC_ENST00000515367.2_Nonsense_Mutation_p.E44*	NM_002387.2	NP_002378.1	P23508	CRCM_HUMAN	mutated in colorectal cancers	107					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		TACTCATCTTCCTCCCTGAGA	0.453000													22	21					1.55795e-14	2.13078e-14	1	1	0
CNOT3	4849	broad.mit.edu	37	19	54652038	54652038	+	Silent	SNP	A	A	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:54652038A>G	ENST00000406403.1	+	10	2653	c.1050A>G	c.(1048-1050)ccA>ccG	p.P350P	CNOT3_ENST00000358389.3_Silent_p.P169P|CNOT3_ENST00000221232.5_Silent_p.P350P			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	350	Pro-rich.				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)					CAGCACCCCCAAGTGCCCTGG	0.721000													6	27					0	0	1	0	0
PTP4A3	11156	broad.mit.edu	37	8	142435183	142435183	+	Silent	SNP	T	T	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr8:142435183T>C	ENST00000520105.1	+	3	1084	c.141T>C	c.(139-141)cgT>cgC	p.R47R	PTP4A3_ENST00000521578.1_Silent_p.R47R|PTP4A3_ENST00000329397.1_Silent_p.R47R|PTP4A3_ENST00000349124.1_Silent_p.R47R|PTP4A3_ENST00000524028.1_Intron			O75365	TP4A3_HUMAN	protein tyrosine phosphatase type IVA, member 3	47						early endosome|plasma membrane	identical protein binding|prenylated protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(2)|large_intestine(1)|lung(3)	6	all_cancers(97;2.55e-15)|all_epithelial(106;1.39e-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;0.0474)			CTGTGGTGCGTGTGTGTGAAG	0.662000													8	37					0	0	1	0	0
CSPG4	1464	broad.mit.edu	37	15	75979867	75979867	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr15:75979867G>A	ENST00000308508.5	-	3	3631	c.3539C>T	c.(3538-3540)gCt>gTt	p.A1180V		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1180	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (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						TGGCTGACCAGCCCGGACTAG	0.652000													24	77					0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24825714	24825714	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr10:24825714G>T	ENST00000376451.2	+	12	2735	c.2475G>T	c.(2473-2475)aaG>aaT	p.K825N	KIAA1217_ENST00000396445.1_Missense_Mutation_p.K825N|KIAA1217_ENST00000458595.1_Missense_Mutation_p.K1107N|KIAA1217_ENST00000376452.3_Missense_Mutation_p.K1106N|KIAA1217_ENST00000307544.6_Missense_Mutation_p.K825N|KIAA1217_ENST00000376454.3_Missense_Mutation_p.K1142N|KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000396446.1_Intron			Q5T5P2	SKT_HUMAN	KIAA1217	1142					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						CATTCCAGAAGTGTTCCTTTA	0.498000													36	119					4.90274e-10	6.13663e-10	1	1	0
PHKA1	5255	broad.mit.edu	37	X	71813030	71813030	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:71813030C>T	ENST00000373545.3	-	29	3479	c.3041G>A	c.(3040-3042)cGc>cAc	p.R1014H	PHKA1_ENST00000339490.3_Missense_Mutation_p.R1043H|PHKA1_ENST00000541944.1_Missense_Mutation_p.R984H|PHKA1_ENST00000373539.3_Missense_Mutation_p.R1073H|PHKA1_ENST00000373542.4_Missense_Mutation_p.R1056H			P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	1056					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	p.R1056P(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					CCTTCTTCGGCGTTGCCATTG	0.438000													15	89					0	0	1	0	0
COL4A5	1287	broad.mit.edu	37	X	107869445	107869445	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:107869445C>A	ENST00000328300.6	+	36	3356	c.3112C>A	c.(3112-3114)Cag>Aag	p.Q1038K	COL4A5_ENST00000361603.2_Missense_Mutation_p.Q1038K	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1038	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						AACAGGGCCTCAGGGTGTGGA	0.408000									Alport syndrome with Diffuse Leiomyomatosis				13	61					2.61681e-11	3.37717e-11	1	1	0
GHSR	2693	broad.mit.edu	37	3	172165996	172165996	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr3:172165996G>A	ENST00000241256.2	-	1	250	c.208C>T	c.(208-210)Cgc>Tgc	p.R70C	GHSR_ENST00000427970.1_Missense_Mutation_p.R70C	NM_198407.2	NP_940799.1	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor	70					actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			TCGCGGAAGCGCGACACCACC	0.657000													10	76					0	0	1	0	0
PDE6B	5158	broad.mit.edu	37	4	619637	619637	+	Silent	SNP	C	C	T	rs148073084		TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr4:619637C>T	ENST00000255622.6	+	1	265	c.222C>T	c.(220-222)cgC>cgT	p.R74R	PDE6B_ENST00000496514.1_Silent_p.R74R	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763.1	P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	74	GAF 1.		R -> C (in RP40; autosomal recessive).		cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						ACATGGAGCGCGTGGTCTTCA	0.677000													7	15					0	0	1	0	0
KIAA1211L	343990	broad.mit.edu	37	2	99438349	99438349	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr2:99438349G>A	ENST00000397899.2	-	7	2718	c.2387C>T	c.(2386-2388)gCg>gTg	p.A796V		NM_207362.2	NP_997245.2			KIAA1211-like																		CCTTTTCTCCGCCGTCCTGGG	0.721000													11	24					0	0	1	0	0
TRPV5	56302	broad.mit.edu	37	7	142622712	142622712	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr7:142622712G>T	ENST00000265310.1	-	8	1382	c.1034C>A	c.(1033-1035)aCg>aAg	p.T345K	TRPV5_ENST00000442623.1_Missense_Mutation_p.T345K	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	345					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)					GACGCAGCACGTGGTAAAGCA	0.532000													36	48					6.05902e-23	9.15177e-23	1	1	0
TBX4	9496	broad.mit.edu	37	17	59544957	59544957	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr17:59544957G>T	ENST00000393853.4	+	5	651	c.488G>T	c.(487-489)cGg>cTg	p.R163L	TBX4_ENST00000240335.1_Missense_Mutation_p.R163L			P57082	TBX4_HUMAN	T-box 4	163					leg morphogenesis|skeletal system morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						CACTGGATGCGGCAGCTGGTC	0.612000													15	69					1.3612e-06	1.56654e-06	1	1	0
CREBZF	58487	broad.mit.edu	37	11	85374858	85374858	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:85374858C>T	ENST00000527447.1	-	1	1288	c.1062G>A	c.(1060-1062)atG>atA	p.M354I	CREBZF_ENST00000398294.2_Missense_Mutation_p.M272I|CREBZF_ENST00000534224.1_Intron|CREBZF_ENST00000531515.1_Intron	NM_001039618.2	NP_001034707.1	Q9NS37	ZHANG_HUMAN	CREB/ATF bZIP transcription factor	354					negative regulation of gene expression, epigenetic|negative regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|response to virus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)				CTTGACCCTACATTTTAAGAG	0.517000											OREG0021274	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	91	95					0	0	1	0	0
MAGEB2	4113	broad.mit.edu	37	X	30236732	30236732	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:30236732G>T	ENST00000378988.4	+	2	136	c.35G>T	c.(34-36)cGt>cTt	p.R12L		NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	12							protein binding			breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						CTCCGTGCCCGTGAGAAACGC	0.537000													8	29					5.4927e-09	6.65953e-09	1	1	0
PTCD1	26024	broad.mit.edu	37	7	99032515	99032515	+	Silent	SNP	C	C	G	rs141699190	byFrequency	TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr7:99032515C>G	ENST00000292478.4	-	2	601	c.351G>C	c.(349-351)cgG>cgC	p.R117R	PTCD1_ENST00000485746.1_5'UTR|ATP5J2-PTCD1_ENST00000413834.1_Silent_p.R166R|PTCD1_ENST00000555673.1_Silent_p.R166R	NM_015545.3	NP_056360.2			pentatricopeptide repeat domain 1											endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			GCTCATCTCTCCGTTCCCCAA	0.537000													91	118					0	0	1	0	0
ATP9A	10079	broad.mit.edu	37	20	50273592	50273592	+	Missense_Mutation	SNP	G	G	A	rs149758833		TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr20:50273592G>A	ENST00000338821.5	-	14	1655	c.1391C>T	c.(1390-1392)gCg>gTg	p.A464V	ATP9A_ENST00000311637.5_Missense_Mutation_p.A328V|ATP9A_ENST00000402822.1_Missense_Mutation_p.A343V	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	464					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						GTGGCAGAGCGCGATGGCCTT	0.617000													7	36					0	0	1	0	0
HCFC1	3054	broad.mit.edu	37	X	153220004	153220004	+	Silent	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:153220004C>T	ENST00000310441.7	-	17	4812	c.3846G>A	c.(3844-3846)tcG>tcA	p.S1282S	HCFC1_ENST00000369984.4_Silent_p.S1282S|HCFC1_ENST00000354233.3_Silent_p.S1213S	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	1282					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCACGGTGGCCGAGGGGCACA	0.667000													23	141					0	0	1	0	0
MDH2	4191	broad.mit.edu	37	7	75695676	75695676	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr7:75695676A>G	ENST00000315758.5	+	9	1059	c.965A>G	c.(964-966)gAg>gGg	p.E322G	MDH2_ENST00000443006.1_Missense_Mutation_p.E215G|MDH2_ENST00000432020.2_Missense_Mutation_p.E280G	NM_005918.2	NP_005909.2	P40926	MDHM_HUMAN	malate dehydrogenase 2, NAD (mitochondrial)	322					gluconeogenesis|malate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus|plasma membrane	binding|L-malate dehydrogenase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(2)	14					NADH(DB00157)	GCCATCCCCGAGCTGAAGGCC	0.512000													11	54					0	0	1	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107459801	107459801	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr2:107459801G>T	ENST00000409382.3	-	2	1243	c.633C>A	c.(631-633)aaC>aaA	p.N211K	ST6GAL2_ENST00000361686.4_Missense_Mutation_p.N211K|ST6GAL2_ENST00000409087.3_Missense_Mutation_p.N211K	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	211					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						TGGAAGAGACGTTCCCCTTCC	0.637000													16	25					2.32078e-09	2.86018e-09	1	1	0
OR13C3	138803	broad.mit.edu	37	9	107298633	107298633	+	Silent	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr9:107298633C>A	ENST00000374781.2	-	1	504	c.462G>T	c.(460-462)gtG>gtT	p.V154V		NM_001001961.1	NP_001001961.1	Q8NGS6	O13C3_HUMAN	olfactory receptor, family 13, subfamily C, member 3	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						TGCAGATGGCCACATAACGAT	0.483000													55	163					5.39261e-20	7.94198e-20	1	1	0
PLA2G2E	30814	broad.mit.edu	37	1	20249184	20249184	+	Silent	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:20249184G>T	ENST00000375116.3	-	2	162	c.105C>A	c.(103-105)tcC>tcA	p.S35S		NM_014589.1	NP_055404.1	Q9NZK7	PA2GE_HUMAN	phospholipase A2, group IIE	35					inflammatory response|lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|phospholipase A2 activity			breast(1)|endometrium(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10		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;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|GBM - Glioblastoma multiforme(114;0.000146)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		ACTGCAGGGCGGACTTGCCTG	0.622000													28	73					1.5548e-18	2.24705e-18	1	1	0
CLCA2	9635	broad.mit.edu	37	1	86904633	86904633	+	Silent	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:86904633G>T	ENST00000370565.4	+	7	1209	c.1047G>T	c.(1045-1047)gtG>gtT	p.V349V		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	349	VWFA.				cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		ATACCTTCGTGGGCATTGCCA	0.423000													21	56					1.55795e-14	2.13078e-14	1	1	0
PDE1C	5137	broad.mit.edu	37	7	31864568	31864568	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr7:31864568G>T	ENST00000396184.3	-	14	1523	c.1319C>A	c.(1318-1320)aCt>aAt	p.T440N	PDE1C_ENST00000396193.1_Missense_Mutation_p.T500N|PDE1C_ENST00000396191.1_Missense_Mutation_p.T440N|PDE1C_ENST00000396182.2_Missense_Mutation_p.T440N|PDE1C_ENST00000321453.7_Missense_Mutation_p.T440N	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	440	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)			CGTAAGCACAGTGAAGGTGGG	0.473000													89	54					2.02624e-56	3.30054e-56	1	1	0
PADI1	29943	broad.mit.edu	37	1	17550870	17550870	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:17550870C>A	ENST00000375471.4	+	4	447	c.355C>A	c.(355-357)Ctt>Att	p.L119I		NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	119					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)	AGATATTTCCCTTGAGGTTGA	0.597000													9	15					4.68919e-08	5.60056e-08	1	1	0
SECISBP2	79048	broad.mit.edu	37	9	91956281	91956281	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr9:91956281T>C	ENST00000375807.3	+	10	1393	c.1322T>C	c.(1321-1323)gTa>gCa	p.V441A	SECISBP2_ENST00000534113.2_Missense_Mutation_p.V373A|SECISBP2_ENST00000339901.4_Missense_Mutation_p.V368A	NM_024077.3	NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	441					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						AAAAATAATGTAAAGAAGAGC	0.383000													7	38					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40368344	40368344	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:40368344G>A	ENST00000221347.6	-	28	13011	c.13004C>T	c.(13003-13005)gCt>gTt	p.A4335V		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4335						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)			GACAACCCCAGCGGCCTGGCA	0.652000													13	248					0	0	1	0	0
MAGEE2	139599	broad.mit.edu	37	X	75004434	75004434	+	Silent	SNP	A	A	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:75004434A>G	ENST00000373359.2	-	1	645	c.453T>C	c.(451-453)gcT>gcC	p.A151A		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	151	MAGE 1.									autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TGTAGGTGTCAGCCTGAGGAT	0.517000													3	21					0	0	1	0	0
BAZ2B	29994	broad.mit.edu	37	2	160205777	160205777	+	Silent	SNP	T	T	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr2:160205777T>C	ENST00000392783.2	-	29	5373	c.4878A>G	c.(4876-4878)gtA>gtG	p.V1626V	BAZ2B_ENST00000355831.2_Silent_p.V1592V|BAZ2B_ENST00000392782.1_Silent_p.V1590V|BAZ2B_ENST00000343439.5_Silent_p.V1526V	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1626					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						CCATCATAGATACTCCACCTT	0.348000													23	43					0	0	1	0	0
TSHZ3	57616	broad.mit.edu	37	19	31769605	31769605	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:31769605C>A	ENST00000240587.4	-	2	1421	c.1094G>T	c.(1093-1095)cGg>cTg	p.R365L		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	365					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)					GTGGCCGTACCGATTATTTGG	0.557000													66	170					6.8682e-38	1.10038e-37	1	1	0
UGT1A5	54579	broad.mit.edu	37	2	234621866	234621866	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr2:234621866C>A	ENST00000373414.3	+	1	229	c.229C>A	c.(229-231)Ctg>Atg	p.L77M	UGT1A6_ENST00000480628.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A7_ENST00000373426.3_Intron	NM_019078.1	NP_061951.1														cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)		CTTTTTCACCCTGACAACGTA	0.493000													26	49					2.48779e-11	3.21436e-11	1	1	0
PVRIG	79037	broad.mit.edu	37	7	99818184	99818184	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr7:99818184C>T	ENST00000317271.2	+	4	847	c.484C>T	c.(484-486)Ccg>Tcg	p.P162S	GATS_ENST00000436886.2_Intron|GATS_ENST00000543273.1_RNA	NM_024070.3	NP_076975.2	Q6DKI7	PVRIG_HUMAN	poliovirus receptor related immunoglobulin domain containing	162						integral to membrane				breast(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)	11	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTCTGCCCCGCCGACTCCTGC	0.682000													36	43					0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175375631	175375631	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:175375631G>T	ENST00000367674.1	-	3	928	c.220C>A	c.(220-222)Ccc>Acc	p.P74T	TNR_ENST00000263525.2_Missense_Mutation_p.P74T	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	74					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)					TTGTCCAAGGGCACGTTAATG	0.557000													28	106					3.65163e-15	5.05905e-15	1	1	0
SPTAN1	6709	broad.mit.edu	37	9	131371399	131371399	+	Splice_Site	SNP	A	A	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr9:131371399A>G	ENST00000358161.5	+	36	4708		c.e36-1		SPTAN1_ENST00000372739.3_Splice_Site|SPTAN1_ENST00000372731.4_Splice_Site			Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1						actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						TCACTCTTTCAGGTGGCGACG	0.507000													11	77					0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16255019	16255019	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:16255019C>T	ENST00000375759.3	+	11	2488	c.2284C>T	c.(2284-2286)Cgg>Tgg	p.R762W		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	762	Arg-rich.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA 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)		ATCCTCAGACCGGAGTGGAAG	0.507000													28	78					0	0	1	0	0
PRKCB	5579	broad.mit.edu	37	16	24166072	24166072	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr16:24166072T>A	ENST00000303531.7	+	10	1285	c.1133T>A	c.(1132-1134)gTg>gAg	p.V378E	PRKCB_ENST00000321728.7_Missense_Mutation_p.V378E	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	378	Protein kinase.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	AAGGACGTTGTGATCCAAGAT	0.547000													28	30					0	0	1	0	0
CEACAM5	1048	broad.mit.edu	37	19	42213710	42213710	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:42213710C>A	ENST00000221992.6	+	2	290	c.176C>A	c.(175-177)cCc>cAc	p.P59H	CEACAM5_ENST00000405816.1_Missense_Mutation_p.P59H|CEA_ENST00000598976.1_Missense_Mutation_p.P59H|CEACAM5_ENST00000398599.4_Missense_Mutation_p.P59H	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	59	Ig-like 1.					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)		CACAATCTGCCCCAGCATCTT	0.502000													37	111					9.80977e-26	1.50193e-25	1	1	0
VN1R2	317701	broad.mit.edu	37	19	53762774	53762774	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:53762774C>A	ENST00000341702.3	+	1	1230	c.1146C>A	c.(1144-1146)tgC>tgA	p.C382*	VN1R2_ENST00000598458.1_Intron	NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	382					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)		GTATCTGCTGCAGAAGAAATA	0.448000													36	79					1.07121e-22	1.61473e-22	1	1	0
ZNF716	441234	broad.mit.edu	37	7	57528885	57528885	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr7:57528885C>A	ENST00000420713.1	+	4	830	c.718C>A	c.(718-720)Ccc>Acc	p.P240T		NM_001159279.1	NP_001152751.1			zinc finger protein 716											breast(1)|kidney(1)|lung(20)|ovary(2)	24						TGGAGAGAAACCCTACAGATG	0.388000													8	17					5.18039e-06	5.84194e-06	1	1	0
ANO7	50636	broad.mit.edu	37	2	242148972	242148972	+	Silent	SNP	G	G	A	rs147198890	byFrequency	TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr2:242148972G>A	ENST00000274979.8	+	13	1546	c.1443G>A	c.(1441-1443)acG>acA	p.T481T	ANO7_ENST00000402430.3_Silent_p.T480T	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	481						cell junction|chloride channel complex|cytosol	chloride channel activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						ACCCCATCACGGGTGAGGACG	0.706000													6	31					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82784328	82784328	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr7:82784328C>A	ENST00000423517.2	-	2	1966	c.1629G>T	c.(1627-1629)caG>caT	p.Q543H	PCLO_ENST00000333891.8_Missense_Mutation_p.Q543H	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	489	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						CTGGGCTAGGCTGTTGAGCTG	0.547000													65	326					1.7104e-27	2.64581e-27	1	1	0
PHF3	23469	broad.mit.edu	37	6	64421916	64421916	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr6:64421916G>T	ENST00000262043.3	+	16	4772	c.4432G>T	c.(4432-4434)Ggt>Tgt	p.G1478C	PHF3_ENST00000393387.1_Missense_Mutation_p.G1478C			Q92576	PHF3_HUMAN	PHD finger protein 3	1478					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			GGGCACCACTGGTCAAGTATA	0.403000													16	61					6.94344e-10	8.6523e-10	1	1	0
KIF11	3832	broad.mit.edu	37	10	94393441	94393441	+	Silent	SNP	T	T	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr10:94393441T>C	ENST00000260731.3	+	14	1854	c.1764T>C	c.(1762-1764)tcT>tcC	p.S588S		NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN	kinesin family member 11	588					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						CACTTGGATCTCTCACATCTA	0.333000													11	46					0	0	1	0	0
SZT2	23334	broad.mit.edu	37	1	43886530	43886530	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:43886530C>T	ENST00000562955.1	+	10	1372	c.1372C>T	c.(1372-1374)Cgg>Tgg	p.R458W		NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	458						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						TCGAGTAACACGGGTGGAAGT	0.537000													5	127					0	0	1	0	0
DKC1	1736	broad.mit.edu	37	X	153994512	153994512	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:153994512C>A	ENST00000369550.5	+	5	495	c.285C>A	c.(283-285)gaC>gaA	p.D95E		NM_001142463.1|NM_001363.3	NP_001135935.1|NP_001354.1	O60832	DKC1_HUMAN	dyskeratosis congenita 1, dyskerin	95					cell proliferation|pseudouridine synthesis|rRNA processing|telomere maintenance via telomerase	Cajal body|nucleolus|telomerase holoenzyme complex	protein binding|pseudouridine synthase activity|RNA binding|telomerase activity			breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TTAATCTTGACAAGCCCTCTA	0.438000									Congenital Dyskeratosis				18	72					3.99206e-14	5.43007e-14	1	1	0
PLIN3	10226	broad.mit.edu	37	19	4839317	4839317	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:4839317G>A	ENST00000221957.4	-	8	1368	c.1192C>T	c.(1192-1194)Cgc>Tgc	p.R398C	PLIN3_ENST00000592528.1_Missense_Mutation_p.R386C|PLIN3_ENST00000585479.1_Missense_Mutation_p.R397C	NM_001164189.1|NM_001164194.1|NM_005817.4	NP_001157661.1|NP_001157666.1|NP_005808.3	O60664	PLIN3_HUMAN	perilipin 3	398					vesicle-mediated transport	endosome membrane|Golgi apparatus|lipid particle	protein binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9					Galsulfase(DB01279)|Idursulfase(DB01271)	AGGGCCTCGCGGGCGCTGGCG	0.632000													16	64					0	0	1	0	0
SAP130	79595	broad.mit.edu	37	2	128757334	128757334	+	Silent	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr2:128757334G>A	ENST00000357702.5	-	10	1403	c.1272C>T	c.(1270-1272)acC>acT	p.T424T	SAP130_ENST00000259234.6_Silent_p.T398T|SAP130_ENST00000259235.3_Silent_p.T424T	NM_001145928.1	NP_001139400.1	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	424					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)		TGTTTGAGGTGGTCACAGCAG	0.527000													21	80					0	0	1	0	0
ZNF514	84874	broad.mit.edu	37	2	95815741	95815741	+	Silent	SNP	T	T	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr2:95815741T>C	ENST00000295208.2	-	5	951	c.489A>G	c.(487-489)agA>agG	p.R163R	ZNF514_ENST00000411425.1_Silent_p.R163R	NM_032788.1	NP_116177.1	Q96K75	ZN514_HUMAN	zinc finger protein 514	163					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(4)|lung(6)|urinary_tract(1)	11						CAAGGACTGATCTTAAACCTA	0.408000													23	107					0	0	1	0	0
GIMAP6	474344	broad.mit.edu	37	7	150325329	150325329	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr7:150325329G>A	ENST00000493969.1	-	3	310	c.133C>T	c.(133-135)Cgc>Tgc	p.R45C	GIMAP6_ENST00000328902.5_Silent_p.S119S	NM_001244071.1	NP_001231000.1	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	287							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)		GCCCTGGGGCGGATAAGACGA	0.627000													15	102					0	0	1	0	0
CALHM1	255022	broad.mit.edu	37	10	105215252	105215252	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr10:105215252C>G	ENST00000329905.5	-	2	944	c.808G>C	c.(808-810)Gcc>Ccc	p.A270P	RP11-225H22.4_ENST00000411906.1_RNA	NM_001001412.3	NP_001001412.3	Q8IU99	CAHM1_HUMAN	calcium homeostasis modulator 1	270						endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel activity|identical protein binding			large_intestine(2)|liver(1)|lung(5)|ovary(1)	9						GAAGCAGGGGCCGTGGCCAGT	0.632000													3	27					0	0	1	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74507409	74507409	+	Silent	SNP	C	C	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:74507409C>G	ENST00000354431.4	-	7	1397	c.1206G>C	c.(1204-1206)cgG>cgC	p.R402R	LRRIQ3_ENST00000395089.1_Silent_p.R402R	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	402								p.R402R(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						CTTTCATACTCCGCTCCAATC	0.353000													15	60					0	0	1	0	0
TMEM198	130612	broad.mit.edu	37	2	220413918	220413918	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr2:220413918C>T	ENST00000344458.2	+	5	1372	c.787C>T	c.(787-789)Cgg>Tgg	p.R263W	TMEM198_ENST00000373883.3_Missense_Mutation_p.R263W			Q66K66	TM198_HUMAN	transmembrane protein 198	263	Arg-rich.					integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		GATGCGGATTCGGCAGCAGGA	0.637000													46	144					0	0	1	0	0
MMEL1	79258	broad.mit.edu	37	1	2525344	2525344	+	Silent	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:2525344G>T	ENST00000288709.6	-	19	1989	c.1749C>A	c.(1747-1749)ccC>ccA	p.P583P	MMEL1_ENST00000378412.3_Silent_p.P592P|MMEL1_ENST00000502556.1_Silent_p.P435P	NM_033467.3	NP_258428.2	Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	592					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)		TGCTGAAGAAGGGGGGCTGGA	0.592000													15	33					2.23348e-06	2.543e-06	1	1	0
SEZ6L2	26470	broad.mit.edu	37	16	29896959	29896959	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr16:29896959C>A	ENST00000308713.5	-	8	1847	c.1320G>T	c.(1318-1320)gaG>gaT	p.E440D	SEZ6L2_ENST00000537485.1_Missense_Mutation_p.E396D|SEZ6L2_ENST00000346932.5_Missense_Mutation_p.E326D|SEZ6L2_ENST00000350527.3_Missense_Mutation_p.E370D	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	440	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						CTGACAGCAGCTCCACGTAGA	0.607000													59	70					1.27862e-28	1.99024e-28	1	1	0
MAGED1	9500	broad.mit.edu	37	X	51638353	51638353	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:51638353A>T	ENST00000375695.2	+	4	571	c.418A>T	c.(418-420)Acc>Tcc	p.T140S	MAGED1_ENST00000375772.3_Missense_Mutation_p.T84S|MAGED1_ENST00000375722.1_Missense_Mutation_p.T84S|MAGED1_ENST00000326587.7_Missense_Mutation_p.T84S|MAGED1_ENST00000494718.1_3'UTR	NM_001005333.1	NP_001005333.1	Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	84					apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding			breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					CCAGAATGCCACCACAAAAGG	0.517000										Multiple Myeloma(10;0.10)			3	27					0	0	1	0	0
CD33	945	broad.mit.edu	37	19	51738913	51738913	+	Silent	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:51738913C>A	ENST00000436584.2	+	5	580	c.525C>A	c.(523-525)acC>acA	p.T175T	CD33_ENST00000391796.3_Silent_p.T302T|CD33_ENST00000421133.2_Silent_p.T175T|CD33_ENST00000262262.4_Silent_p.T302T			P20138	CD33_HUMAN	CD33 molecule	302	Ig-like C2-type.				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)	CCCACCCTACCACAGGGTCAG	0.602000													6	22					0.0293803	0.0299002	1	1	0
FAM53A	152877	broad.mit.edu	37	4	1657194	1657194	+	Silent	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr4:1657194C>A	ENST00000308132.6	-	4	585	c.393G>T	c.(391-393)gtG>gtT	p.V131V	FAM53A_ENST00000461064.1_Silent_p.V131V|FAM53A_ENST00000472884.2_Silent_p.V131V|FAM53A_ENST00000489363.1_Silent_p.V131V	NM_001174070.1	NP_001167541.1	Q6NSI3	FA53A_HUMAN	family with sequence similarity 53, member A	131						nucleus				breast(2)|central_nervous_system(2)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10		all_epithelial(65;0.206)|Breast(71;0.212)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)			ACCGGCAGCGCACAAGCTCCT	0.697000													5	19					0.000602214	0.000639568	1	1	0
ZNF536	9745	broad.mit.edu	37	19	31040234	31040234	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:31040234G>T	ENST00000355537.3	+	4	3855	c.3708G>T	c.(3706-3708)caG>caT	p.Q1236H		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1236					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.Q1236H(1)		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)					GGCACAGCCAGGGTCTTCTCC	0.672000													14	30					0.000151284	0.000164325	1	1	0
HCN3	57657	broad.mit.edu	37	1	155252485	155252485	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:155252485C>A	ENST00000368358.3	+	2	570	c.562C>A	c.(562-564)Cta>Ata	p.L188I	HCN3_ENST00000496230.1_3'UTR	NM_020897.1	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3	188						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TTACATCTTCCTAGTGGTGGA	0.592000													17	112					1.45105e-14	1.99187e-14	1	1	0
DPCR1	135656	broad.mit.edu	37	6	30919715	30919715	+	Translation_Start_Site	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr6:30919715G>A	ENST00000304311.2	+	0	3474				DPCR1_ENST00000462446.1_Silent_p.K1158K|HCG21_ENST00000419481.1_RNA	NM_080870.3	NP_543146.2	Q3MIW9	DPCR1_HUMAN	diffuse panbronchiolitis critical region 1							integral to membrane				endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						CCCATGAGAAGATGACACAAG	0.468000													21	20					0	0	1	0	0
UNC13D	201294	broad.mit.edu	37	17	73824987	73824987	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr17:73824987G>A	ENST00000207549.4	-	31	3411	c.3032C>T	c.(3031-3033)gCc>gTc	p.A1011V	UNC13D_ENST00000412096.2_Missense_Mutation_p.A1011V	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	1011	C2 2.				positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			CAGGTCGTCGGCCCCCAGCGT	0.706000									Familial Hemophagocytic Lymphohistiocytosis				6	19					0	0	1	0	0
SLC6A20	54716	broad.mit.edu	37	3	45823592	45823592	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr3:45823592G>A	ENST00000358525.4	-	2	360	c.245C>T	c.(244-246)cCg>cTg	p.P82L	SLC6A20_ENST00000353278.4_Missense_Mutation_p.P82L|SLC6A20_ENST00000456124.2_Missense_Mutation_p.P82L	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20	82					cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		ACTGAGGTACGGGCTGATGGT	0.647000													4	13					0	0	1	0	0
WFDC5	149708	broad.mit.edu	37	20	43739149	43739149	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr20:43739149G>T	ENST00000307971.4	-	3	337	c.259C>A	c.(259-261)Cgc>Agc	p.R87S	WFDC5_ENST00000372789.4_Missense_Mutation_p.R87S			Q8TCV5	WFDC5_HUMAN	WAP four-disulfide core domain 5	87	WAP 2.					extracellular region	serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5		Myeloproliferative disorder(115;0.0122)				CTGAGGCAGCGCAGTTGGTCC	0.632000													14	39					8.60227e-14	1.16094e-13	1	1	0
FAM135B	51059	broad.mit.edu	37	8	139165055	139165055	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr8:139165055C>T	ENST00000395297.1	-	13	1833	c.1663G>A	c.(1663-1665)Gac>Aac	p.D555N		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	555										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)			GATTTTACGTCAATGTAGGTC	0.493000										HNSCC(54;0.14)			14	63					0	0	1	0	0
IBTK	25998	broad.mit.edu	37	6	82950120	82950120	+	Silent	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr6:82950120C>A	ENST00000306270.7	-	2	633	c.84G>T	c.(82-84)ggG>ggT	p.G28G	IBTK_ENST00000510291.1_Silent_p.G28G|IBTK_ENST00000503631.1_Silent_p.G28G	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	28					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		GGTTTTCGCTCCCCTTTGTTA	0.453000													36	32					2.6416e-12	3.46093e-12	1	1	0
ZNF507	22847	broad.mit.edu	37	19	32845253	32845253	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:32845253G>T	ENST00000311921.3	+	2	1709	c.1517G>T	c.(1516-1518)aGa>aTa	p.R506I	ZNF507_ENST00000587084.1_3'UTR|ZNF507_ENST00000355898.5_Missense_Mutation_p.R506I|ZNF507_ENST00000544431.1_Missense_Mutation_p.R506I	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	506					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R506T(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					ATGCCTATAAGAGCTGCAGAG	0.468000													23	52					5.26018e-13	6.96081e-13	1	1	0
FRAS1	80144	broad.mit.edu	37	4	79440603	79440603	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr4:79440603C>A	ENST00000264895.6	+	67	10948	c.10508C>A	c.(10507-10509)tCt>tAt	p.S3503Y		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3498					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						ATGGAGTTTTCTTTCTTCTAT	0.488000													64	159					2.165e-29	3.38168e-29	1	1	0
PI15	51050	broad.mit.edu	37	8	75757616	75757616	+	Splice_Site	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr8:75757616G>T	ENST00000260113.2	+	5	704		c.e5-1		RP11-758M4.4_ENST00000522914.1_RNA|RP11-758M4.4_ENST00000523860.1_RNA|PI15_ENST00000523773.1_Splice_Site|RP11-758M4.4_ENST00000518128.1_RNA	NM_015886.3	NP_056970.1	O43692	PI15_HUMAN	peptidase inhibitor 15							extracellular region	peptidase inhibitor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			TATTTTCACAGATGGTTTGGG	0.373000													9	42					3.09899e-07	3.62599e-07	1	1	0
TMCO2	127391	broad.mit.edu	37	1	40713882	40713882	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:40713882C>T	ENST00000372766.3	+	1	310	c.217C>T	c.(217-219)Cga>Tga	p.R73*	TMCO2_ENST00000468258.1_Intron	NM_001008740.3	NP_001008740.1	Q7Z6W1	TMCO2_HUMAN	transmembrane and coiled-coil domains 2	73						integral to membrane				kidney(1)|large_intestine(3)|lung(1)|ovary(1)	6	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;6.3e-18)			CTTATGGAAACGAAGTATTCA	0.323000													31	83					0	0	1	0	0
CABS1	85438	broad.mit.edu	37	4	71200777	71200777	+	Silent	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr4:71200777C>A	ENST00000273936.4	+	1	80	c.21C>A	c.(19-21)ccC>ccA	p.P7P		NM_033122.3	NP_149113.3	Q96KC9	CABS1_HUMAN	calcium-binding protein, spermatid-specific 1	7						flagellum	calcium ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						ATGGTTTGCCCAAAATTTATT	0.463000													15	38					2.31682e-05	2.55992e-05	1	1	0
BRWD3	254065	broad.mit.edu	37	X	79978129	79978129	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:79978129C>A	ENST00000373275.4	-	17	2024	c.1808G>T	c.(1807-1809)cGg>cTg	p.R603L		NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	603										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						TGGTACCAACCGTTGGAATTT	0.398000													13	83					0.00185496	0.00194515	1	1	0
NDC80	10403	broad.mit.edu	37	18	2572988	2572988	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr18:2572988A>G	ENST00000261597.4	+	2	186	c.4A>G	c.(4-6)Aag>Gag	p.K2E		NM_006101.2	NP_006092.1	O14777	NDC80_HUMAN	NDC80 kinetochore complex component	2	Interaction with the N-terminus of CDCA1.|Nuclear localization.				attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling	condensed nuclear chromosome outer kinetochore|cytosol|Ndc80 complex	protein binding			NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2)	22						CATAAGCATGAAGCGCAGTTC	0.423000													4	32					0	0	1	0	0
STK36	27148	broad.mit.edu	37	2	219563913	219563913	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr2:219563913C>A	ENST00000295709.3	+	26	3925	c.3646C>A	c.(3646-3648)Ctg>Atg	p.L1216M	STK36_ENST00000440309.1_Missense_Mutation_p.L1216M|STK36_ENST00000392105.3_Missense_Mutation_p.L1195M|STK36_ENST00000392106.2_Missense_Mutation_p.L1195M	NM_015690.4	NP_056505.2	Q9NRP7	STK36_HUMAN	serine/threonine kinase 36	1216					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)		TGCATCAGCTCTGGGCAACTT	0.592000													5	68					0.000602214	0.000639568	1	1	0
FLNA	2316	broad.mit.edu	37	X	153581507	153581507	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:153581507C>T	ENST00000422373.1	-	37	6312	c.6064G>A	c.(6064-6066)Gtg>Atg	p.V2022M	FLNA_ENST00000360319.4_Missense_Mutation_p.V2022M|FLNA_ENST00000344736.4_Missense_Mutation_p.V1990M|FLNA_ENST00000369850.3_Missense_Mutation_p.V2030M|FLNA_ENST00000369856.3_Missense_Mutation_p.V163M	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	2030					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTGCTGGCCACGTGCTGGCCA	0.607000													15	69					0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28389237	28389237	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr15:28389237T>A	ENST00000261609.7	-	73	11393	c.11285A>T	c.(11284-11286)cAg>cTg	p.Q3762L		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	3762					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)		GGCACTCAGCTGTGCACAAGC	0.507000													31	41					0	0	1	0	0
FLRT2	23768	broad.mit.edu	37	14	86088908	86088908	+	Silent	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr14:86088908C>A	ENST00000330753.4	+	2	1817	c.1050C>A	c.(1048-1050)gtC>gtA	p.V350V	FLRT2_ENST00000554746.1_Silent_p.V350V	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	350	LRRCT.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	p.V350V(1)		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)		GGATGGCCGTCAGGGAATTAA	0.532000													65	180					4.10029e-35	6.51804e-35	1	1	0
OIT3	170392	broad.mit.edu	37	10	74658610	74658610	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr10:74658610G>A	ENST00000334011.5	+	2	468	c.250G>A	c.(250-252)Gca>Aca	p.A84T		NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN	oncoprotein induced transcript 3	84						nuclear envelope	calcium ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					TGGAACCCACGCACCTGTCTG	0.567000													16	37					0	0	1	0	0
PLTP	5360	broad.mit.edu	37	20	44538660	44538660	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr20:44538660G>A	ENST00000477313.1	-	3	844	c.250C>T	c.(250-252)Cca>Tca	p.P84S	PLTP_ENST00000372420.1_5'UTR|PLTP_ENST00000354050.4_Missense_Mutation_p.P84S|PLTP_ENST00000420868.2_Intron|PLTP_ENST00000372431.3_Missense_Mutation_p.P84S|PLTP_ENST00000542937.1_Missense_Mutation_p.P104S			P55058	PLTP_HUMAN	phospholipid transfer protein	84					cellular lipid metabolic process|lipid transport	extracellular region	lipid binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)	21		Myeloproliferative disorder(115;0.0122)				TCCTGCTGTGGCTGGAAATCG	0.572000													7	80					0	0	1	0	0
HOXA1	3198	broad.mit.edu	37	7	27135330	27135330	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr7:27135330G>T	ENST00000343060.4	-	1	263	c.202C>A	c.(202-204)Cac>Aac	p.H68N	HOXA1_ENST00000355633.5_Missense_Mutation_p.H68N|HOTAIRM1_ENST00000495032.1_RNA	NM_005522.4	NP_005513.1	P49639	HXA1_HUMAN	homeobox A1	68	Poly-His.					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						tggtggtggtggtggtggtgg	0.642000											OREG0003750	type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	43	25					6.21074e-16	8.73398e-16	1	1	0
CLEC4F	165530	broad.mit.edu	37	2	71044163	71044163	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr2:71044163C>A	ENST00000272367.2	-	4	426	c.350G>T	c.(349-351)tGg>tTg	p.W117L	CLEC4F_ENST00000426626.1_Missense_Mutation_p.W117L	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	117					endocytosis	integral to membrane	receptor activity|sugar binding			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						TTCTACTACCCAGGCACTGGA	0.498000													27	62					7.41945e-09	8.95685e-09	1	1	0
XPNPEP2	7512	broad.mit.edu	37	X	128901596	128901596	+	Silent	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:128901596G>T	ENST00000371106.3	+	20	1950	c.1758G>T	c.(1756-1758)ctG>ctT	p.L586L		NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	586					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						GGAGCTACCTGACCTTTGAAG	0.572000													24	106					3.6726e-16	5.17765e-16	1	1	0
CACNA2D1	781	broad.mit.edu	37	7	81599239	81599239	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr7:81599239G>T	ENST00000356860.3	-	28	2604	c.2266C>A	c.(2266-2268)Cta>Ata	p.L756I	CACNA2D1_ENST00000535308.1_Intron|CACNA2D1_ENST00000356253.5_Missense_Mutation_p.L768I	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	768						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	TCATTATCTAGGCTCCTTTTA	0.338000													21	34					4.4004e-07	5.11935e-07	1	1	0
ZNF195	7748	broad.mit.edu	37	11	3392922	3392922	+	Silent	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:3392922C>T	ENST00000354599.6	-	2	119	c.15G>A	c.(13-15)acG>acA	p.T5T	ZNF195_ENST00000005082.9_Silent_p.T5T|ZNF195_ENST00000526601.1_Silent_p.T9T|ZNF195_ENST00000343338.7_Silent_p.T9T|ZNF195_ENST00000527386.1_5'UTR|ZNF195_ENST00000399602.4_Silent_p.T5T|ZNF195_ENST00000528796.1_Silent_p.T5T|ZNF195_ENST00000438262.2_Silent_p.T9T|ZNF195_ENST00000429541.2_Silent_p.T9T	NM_001242843.1|NM_001256825.1|NM_007152.4	NP_001229772.1|NP_001243754.1|NP_009083.2	O14628	ZN195_HUMAN	zinc finger protein 195	0	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		CATCCCTGAACGTCAACAGAG	0.443000													9	75					0	0	1	0	0
BPIFB3	359710	broad.mit.edu	37	20	31649631	31649631	+	Silent	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr20:31649631G>A	ENST00000375494.3	+	5	585	c.585G>A	c.(583-585)ccG>ccA	p.P195P		NM_182658.1	NP_872599.1	P59826	LPLC3_HUMAN	BPI fold containing family B, member 3	195	Leu-rich.				innate immune response	cytoplasm|extracellular region	lipid binding|protein binding										AGGTGCTTCCGGGACTGGTGA	0.622000													5	54					0	0	1	0	0
GPR174	84636	broad.mit.edu	37	X	78427451	78427451	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:78427451C>A	ENST00000276077.1	+	1	983	c.947C>A	c.(946-948)gCa>gAa	p.A316E		NM_032553.1	NP_115942.1	Q9BXC1	GP174_HUMAN	G protein-coupled receptor 174	316						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.A316E(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						CAACTCCATGCAAAATCCTTT	0.398000										HNSCC(63;0.18)			22	34					2.21704e-12	2.90638e-12	1	1	0
MAP4K1	11184	broad.mit.edu	37	19	39086640	39086640	+	Splice_Site	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:39086640C>T	ENST00000591517.1	-	27	2146	c.2116_splice	c.e27-1	p.E706_splice	MAP4K1_ENST00000589130.1_Splice_Site_p.E702_splice|MAP4K1_ENST00000586296.1_Intron|MAP4K1_ENST00000396857.2_Splice_Site_p.E706_splice	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	706	CNH.				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity			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)			GTCCCCTGTGCTCTGTTTGGG	0.602000													9	149					0	0	1	0	0
KRT83	3889	broad.mit.edu	37	12	52714928	52714928	+	Silent	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr12:52714928G>A	ENST00000293670.3	-	1	254	c.192C>T	c.(190-192)tgC>tgT	p.C64C		NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	64	Head.				epidermis development	keratin filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		AGCTGCGTCCGCAGGAGCCGG	0.726000													30	55					0	0	1	0	0
ISY1-RAB43	100534599	broad.mit.edu	37	3	128849434	128849434	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr3:128849434G>A	ENST00000418265.1	-	10	769	c.709C>T	c.(709-711)Cag>Tag	p.Q237*	ISY1_ENST00000471497.1_5'UTR|ISY1_ENST00000393295.3_Nonsense_Mutation_p.Q237*|ISY1_ENST00000393292.3_Missense_Mutation_p.A238V|ISY1_ENST00000273541.8_Nonsense_Mutation_p.Q259*	NM_001204890.1	NP_001191819.1	Q9ULR0	ISY1_HUMAN		237						catalytic step 2 spliceosome											ATGAACTTCTGCTGGCTGTCG	0.557000													15	46					0	0	1	0	0
GLTPD2	388323	broad.mit.edu	37	17	4692555	4692555	+	Silent	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr17:4692555C>A	ENST00000331264.7	+	2	194	c.141C>A	c.(139-141)ccC>ccA	p.P47P		NM_001014985.2	NP_001014985.2			glycolipid transfer protein domain containing 2											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)	4						GGGCGCAGCCCTGCGTTCCAG	0.692000													5	8					0.014758	0.0151151	1	1	0
CAPN15	6650	broad.mit.edu	37	16	602998	602998	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr16:602998C>T	ENST00000219611.2	+	13	3403	c.3040C>T	c.(3040-3042)Cgc>Tgc	p.R1014C	LA16c-366D1.3_ENST00000565879.1_RNA	NM_005632.2	NP_005623.1			calpain 15																		GGTGTCCACACGCGGCAGCCT	0.701000													13	61					0	0	1	0	0
GALP	85569	broad.mit.edu	37	19	56688562	56688562	+	Missense_Mutation	SNP	C	C	T	rs139843226		TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:56688562C>T	ENST00000357330.2	+	2	167	c.85C>T	c.(85-87)Cgg>Tgg	p.R29W	GALP_ENST00000440823.1_Missense_Mutation_p.R29W|GALP_ENST00000590002.1_Missense_Mutation_p.R29W	NM_033106.3	NP_149097.1	Q9UBC7	GALP_HUMAN	galanin-like peptide	29					neuropeptide signaling pathway	extracellular region	hormone activity			lung(4)	4		Colorectal(82;0.000147)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0507)		ACCTGCCCACCGGGTAACGCC	0.587000													7	28					0	0	1	0	0
PRPF4	9128	broad.mit.edu	37	9	116052753	116052753	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr9:116052753C>T	ENST00000374199.4	+	11	1431	c.1030C>T	c.(1030-1032)Cgt>Tgt	p.R344C	PRPF4_ENST00000374198.4_Missense_Mutation_p.R345C			O43172	PRP4_HUMAN	pre-mRNA processing factor 4	345						Cajal body|nuclear speck|spliceosomal complex|U4/U6 snRNP	protein binding			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	23						TAGCTATGACCGTTCATGGCG	0.408000													4	117					0	0	1	0	0
CXorf57	55086	broad.mit.edu	37	X	105905390	105905390	+	Silent	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:105905390G>T	ENST00000372548.4	+	12	2233	c.2124G>T	c.(2122-2124)cgG>cgT	p.R708R	CXorf57_ENST00000497124.1_3'UTR|CXorf57_ENST00000372544.2_Silent_p.R611R	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57	708										NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						GTATTCCACGGAAATTTATGT	0.408000													9	79					0.000442599	0.00047184	1	1	0
TF	7018	broad.mit.edu	37	3	133495985	133495985	+	Silent	SNP	A	A	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr3:133495985A>G	ENST00000402696.3	+	16	2450	c.1965A>G	c.(1963-1965)gtA>gtG	p.V655V	TF_ENST00000264998.3_Silent_p.V528V	NM_001063.3	NP_001054.1	P02787	TRFE_HUMAN	transferrin	655	Transferrin-like 2.				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)	ATGACACAGTATGTTTGGCCA	0.433000													16	42					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64484401	64484401	+	Translation_Start_Site	SNP	A	A	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr14:64484401A>T	ENST00000357395.3	+	0	5206				SYNE2_ENST00000344113.4_Missense_Mutation_p.D1659V|SYNE2_ENST00000358025.3_Missense_Mutation_p.D1659V|SYNE2_ENST00000554584.1_Missense_Mutation_p.D1659V			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2						centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AATGTCATTGATGAGTGGACA	0.333000													9	128					0	0	1	0	0
CHRNB2	1141	broad.mit.edu	37	1	154543958	154543958	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:154543958C>T	ENST00000368476.3	+	5	923	c.659C>T	c.(658-660)aCg>aTg	p.T220M		NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	cholinergic receptor, nicotinic, beta 2 (neuronal)	220					B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception	cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Nicotine(DB00184)	GACGACTCTACGTACGTGGAC	0.587000													10	133					0	0	1	0	0
KRTAP19-6	337973	broad.mit.edu	37	21	31914063	31914063	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr21:31914063G>T	ENST00000334046.5	-	1	120	c.90C>A	c.(88-90)taC>taA	p.Y30*		NM_181612.2	NP_853643.1	Q3LI70	KR196_HUMAN	keratin associated protein 19-6	30						intermediate filament		p.Y30*(1)		breast(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	9						AGCCATATCTGTAGCCTCCAC	0.512000													64	73					1.02487e-32	1.62114e-32	1	1	0
GHSR	2693	broad.mit.edu	37	3	172165385	172165385	+	Silent	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr3:172165385C>T	ENST00000427970.1	-	1	860	c.819G>A	c.(817-819)agG>agA	p.R273R	GHSR_ENST00000241256.2_Intron	NM_004122.2	NP_004113.1	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor	0					actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			CGAGAGAAAGCCTGAGCGCGC	0.592000													17	54					0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98576479	98576479	+	Silent	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr7:98576479C>T	ENST00000359863.4	+	57	8774	c.8565C>T	c.(8563-8565)tgC>tgT	p.C2855C	TRRAP_ENST00000446306.3_Silent_p.C2837C|TRRAP_ENST00000355540.3_Silent_p.C2837C	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2855	FAT.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|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.C2837C(1)|p.C2855C(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)			TCCTGGAGTGCGCCTGGCGGG	0.617000													56	58					0	0	1	0	0
CLEC4F	165530	broad.mit.edu	37	2	71039601	71039601	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr2:71039601G>C	ENST00000272367.2	-	5	1593	c.1517C>G	c.(1516-1518)tCt>tGt	p.S506C	CLEC4F_ENST00000426626.1_Missense_Mutation_p.S506C	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	506	C-type lectin.				endocytosis	integral to membrane	receptor activity|sugar binding			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						GGAGGCCACAGATGCCAGATG	0.512000													41	89					0	0	1	0	0
NLN	57486	broad.mit.edu	37	5	65073271	65073271	+	Silent	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr5:65073271G>A	ENST00000380985.5	+	4	646	c.468G>A	c.(466-468)ggG>ggA	p.G156G	NLN_ENST00000502464.1_Silent_p.G52G	NM_020726.4	NP_065777.1	Q9BYT8	NEUL_HUMAN	neurolysin (metallopeptidase M3 family)	156					proteolysis	mitochondrial intermembrane space	metal ion binding|metalloendopeptidase activity			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)		GTGATCTGGGGAAGATAAAAC	0.378000													104	66					0	0	1	0	0
OR6Y1	391112	broad.mit.edu	37	1	158517517	158517517	+	Missense_Mutation	SNP	G	G	T	rs142732842		TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:158517517G>T	ENST00000302617.3	-	1	378	c.379C>A	c.(379-381)Cgc>Agc	p.R127S		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, member 1	127					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					GCTACATAGCGGTCAAAGGCC	0.468000													27	118					1.5548e-18	2.24705e-18	1	1	0
ST6GAL2	84620	broad.mit.edu	37	2	107460319	107460319	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr2:107460319C>T	ENST00000409382.3	-	2	725	c.115G>A	c.(115-117)Gta>Ata	p.V39I	ST6GAL2_ENST00000361686.4_Missense_Mutation_p.V39I|ST6GAL2_ENST00000409087.3_Missense_Mutation_p.V39I	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	39					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						GAGCTGGGTACAGGCTCAGCG	0.597000													10	28					0	0	1	0	0
NUDT10	170685	broad.mit.edu	37	X	51076024	51076024	+	Silent	SNP	G	G	A	rs143435240	byFrequency	TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:51076024G>A	ENST00000376006.3	+	2	427	c.207G>A	c.(205-207)gaG>gaA	p.E69E	NUDT10_ENST00000356450.2_Silent_p.E69E	NM_153183.2	NP_694853.1	Q8NFP7	NUD10_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 10	69	Nudix hydrolase.					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	p.E69E(8)		cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16	Ovarian(276;0.236)					TGTACGAAGAGGCGGGAGTCA	0.657000													8	36					0	0	1	0	0
ROBO3	64221	broad.mit.edu	37	11	124749231	124749231	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:124749231G>A	ENST00000397801.1	+	24	3871	c.3679G>A	c.(3679-3681)Gcc>Acc	p.A1227T	ROBO3_ENST00000538940.1_Missense_Mutation_p.A1205T|ROBO3_ENST00000543966.1_5'UTR|ROBO3_ENST00000525482.1_3'UTR	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	1227					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)		AGCCAGCAGTGCCCCAGGTAA	0.622000													5	19					0	0	1	0	0
GGT3P	2679	broad.mit.edu	37	22	18769223	18769223	+	RNA	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr22:18769223C>A	ENST00000412448.1	-	0	1063																											GTCTCTCCCCCTCCCGAAGCA	0.642000													7	35					0.00136819	0.0014374	1	1	0
MUC16	94025	broad.mit.edu	37	19	9062572	9062572	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:9062572C>T	ENST00000397910.4	-	3	25077	c.24874G>A	c.(24874-24876)Gct>Act	p.A8292T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8294	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						GGAAGAGAAGCGGAAGGGAAA	0.507000													17	54					0	0	1	0	0
RSPO1	284654	broad.mit.edu	37	1	38079496	38079496	+	Silent	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:38079496G>T	ENST00000356545.2	-	7	1292	c.505C>A	c.(505-507)Cgg>Agg	p.R169R	RSPO1_ENST00000401070.1_Intron|RSPO1_ENST00000401068.1_Silent_p.R169R|RSPO1_ENST00000401071.2_Intron|RSPO1_ENST00000401069.1_Silent_p.R169R|RSPO1_ENST00000373059.1_Silent_p.R142R	NM_001038633.3	NP_001033722.1	Q2MKA7	RSPO1_HUMAN	R-spondin 1	169	TSP type-1.				positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GAGCCCCTCCGGAAACCACAG	0.627000													17	70					6.94344e-10	8.6523e-10	1	1	0
NELFB	25920	broad.mit.edu	37	9	140150830	140150830	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr9:140150830A>T	ENST00000343053.4	+	3	653	c.316A>T	c.(316-318)Atg>Ttg	p.M106L		NM_015456.3	NP_056271.2			negative elongation factor complex member B																		TCTGGTGAAGATGCCGTCCCT	0.572000													76	41					0	0	1	0	0
TBX4	9496	broad.mit.edu	37	17	59560456	59560456	+	Missense_Mutation	SNP	G	G	T	rs145825881		TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr17:59560456G>T	ENST00000393853.4	+	9	1383	c.1220G>T	c.(1219-1221)gGg>gTg	p.G407V	TBX4_ENST00000589449.1_Intron|TBX4_ENST00000240335.1_Missense_Mutation_p.G406V			P57082	TBX4_HUMAN	T-box 4	406					leg morphogenesis|skeletal system morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						GGGGTGTCTGGGGTGGACGAC	0.592000													16	75					1.99824e-07	2.35278e-07	1	1	0
MIR587	693172	broad.mit.edu	37	6	107232061	107232061	+	RNA	SNP	T	T	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr6:107232061T>C	ENST00000384845.1	+	0	62					NR_030314.1																						tgtctgcacctgtgactcatc	0.527000													21	29					0	0	1	0	0
CBX2	84733	broad.mit.edu	37	17	77755612	77755612	+	Silent	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr17:77755612C>T	ENST00000269399.5	+	4	342	c.300C>T	c.(298-300)tgC>tgT	p.C100C	CBX2_ENST00000310942.4_Intron	NM_032647.3	NP_116036.1	Q14781	CBX2_HUMAN	chromobox homolog 2	196	Ser-rich.				cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			TGGGTGGCTGCGCTGGGTATG	0.667000													7	91					0	0	1	0	0
YAE1D1	57002	broad.mit.edu	37	7	39606093	39606093	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr7:39606093G>A	ENST00000432096.2	+	1	89	c.76G>A	c.(76-78)Gag>Aag	p.E26K	YAE1D1_ENST00000223273.2_Missense_Mutation_p.E26K|YAE1D1_ENST00000448268.1_Missense_Mutation_p.E26K			Q9NRH1	CG036_HUMAN	Yae1 domain containing 1	26																	AGAAGCAGACGAGTCGCTCCT	0.592000													22	59					0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63174948	63174948	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr14:63174948C>T	ENST00000322893.7	-	11	2513	c.2245G>A	c.(2245-2247)Gga>Aga	p.G749R	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	749					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		ACGCTGGTTCCGGTGATGGAG	0.537000													15	51					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9056249	9056249	+	Silent	SNP	G	G	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:9056249G>C	ENST00000397910.4	-	3	31400	c.31197C>G	c.(31195-31197)acC>acG	p.T10399T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10401	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						CTGTCATTCTGGTATCCAAAA	0.488000													54	150					0	0	1	0	0
OVCH2	341277	broad.mit.edu	37	11	7723269	7723269	+	RNA	SNP	T	T	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:7723269T>A	ENST00000454689.1	-	0	552				OVCH2_ENST00000534193.1_RNA	NM_198185.3	NP_937828.3			ovochymase 2 (gene/pseudogene)											cervix(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(2)	15				Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197)		TTACCTTCAGTTAAGCGGCCC	0.443000													3	9					0	0	1	0	0
NAPSA	9476	broad.mit.edu	37	19	50862277	50862277	+	Silent	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:50862277G>A	ENST00000253719.2	-	8	1234	c.1026C>T	c.(1024-1026)taC>taT	p.Y342Y	NR1H2_ENST00000542413.1_Intron|NR1H2_ENST00000600978.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	342					proteolysis	extracellular region	aspartic-type endopeptidase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		CCTGGATGACGTAATCATGGG	0.552000													11	53					0	0	1	0	0
LRRTM4	80059	broad.mit.edu	37	2	77745818	77745818	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr2:77745818C>A	ENST00000409088.3	-	3	1591	c.1177G>T	c.(1177-1179)Gac>Tac	p.D393Y	LRRTM4_ENST00000409282.1_Missense_Mutation_p.D394Y|LRRTM4_ENST00000409093.1_Missense_Mutation_p.D393Y|LRRTM4_ENST00000409884.1_Missense_Mutation_p.D393Y|LRRTM4_ENST00000409911.1_Missense_Mutation_p.D394Y	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	393						integral to membrane				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)		TGGGTGACGTCAGGTTTGAAG	0.478000													19	43					1.15919e-05	1.2942e-05	1	1	0
KMT2C	58508	broad.mit.edu	37	7	151970887	151970887	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr7:151970887C>A	ENST00000355193.2	-	7	1133	c.915G>T	c.(913-915)atG>atT	p.M305I	KMT2C_ENST00000262189.6_Missense_Mutation_p.M305I					lysine (K)-specific methyltransferase 2C									p.M305I(4)									GATAATGATACATCTGGGTAC	0.433000													5	115					2.0095e-06	2.29496e-06	1	1	0
SERGEF	26297	broad.mit.edu	37	11	18028188	18028188	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:18028188C>G	ENST00000265965.5	-	3	453	c.302G>C	c.(301-303)tGt>tCt	p.C101S	RP1-59M18.2_ENST00000525523.1_RNA|SERGEF_ENST00000532265.1_5'UTR|SERGEF_ENST00000528200.1_Missense_Mutation_p.C101S|SERGEF_ENST00000532212.1_5'UTR	NM_012139.2	NP_036271.1	Q9UGK8	SRGEF_HUMAN	secretion regulating guanine nucleotide exchange factor	101					negative regulation of protein secretion|signal transduction	cytoplasm|nucleus	protein binding|Ran guanyl-nucleotide exchange factor activity	p.C101Y(1)		autonomic_ganglia(1)|central_nervous_system(1)|large_intestine(5)|lung(5)	12						TTGGATGGGACAGCCAAAGAG	0.498000													43	101					0	0	1	0	0
CDH2	1000	broad.mit.edu	37	18	25593647	25593647	+	Splice_Site	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr18:25593647C>A	ENST00000269141.3	-	3	822	c.399_splice	c.e3+1	p.K133_splice	CDH2_ENST00000399380.3_Splice_Site_p.K102_splice	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	133					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						GATACTATACCTTCACTGACT	0.413000													71	79					2.51111e-31	3.95534e-31	1	1	0
RHBG	57127	broad.mit.edu	37	1	156351713	156351713	+	Silent	SNP	G	G	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:156351713G>C	ENST00000400992.2	+	6	1229	c.861G>C	c.(859-861)acG>acC	p.T287T	RHBG_ENST00000537040.1_Silent_p.T157T|RHBG_ENST00000451864.2_Intron|RHBG_ENST00000368249.1_Silent_p.T319T|RHBG_ENST00000255013.3_Silent_p.T250T|RHBG_ENST00000368246.2_Silent_p.T319T			Q9H310	RHBG_HUMAN	Rh family, B glycoprotein (gene/pseudogene)	319					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			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					CTGTCTCCACGCTGGGGTACA	0.577000													22	92					0	0	1	0	0
SLC17A6	57084	broad.mit.edu	37	11	22380970	22380970	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:22380970C>A	ENST00000263160.3	+	4	907	c.470C>A	c.(469-471)gCt>gAt	p.A157D		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	157					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						GTTTTCGGAGCTGCCATACTT	0.363000													12	30					7.03913e-09	8.50688e-09	1	1	0
LIG1	3978	broad.mit.edu	37	19	48653362	48653362	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:48653362G>A	ENST00000263274.7	-	8	1099	c.680C>T	c.(679-681)aCg>aTg	p.T227M	LIG1_ENST00000599165.1_5'UTR|LIG1_ENST00000536218.1_Missense_Mutation_p.T159M|LIG1_ENST00000427526.2_Missense_Mutation_p.T196M	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	227					anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	GCTGCTGAGCGTCTTGGGAGC	0.617000								Nucleotide excision repair (NER)					13	65					0	0	1	0	0
RGAG1	57529	broad.mit.edu	37	X	109694722	109694722	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:109694722G>C	ENST00000465301.2	+	3	1123	c.877G>C	c.(877-879)Gga>Cga	p.G293R	RGAG1_ENST00000540313.1_Missense_Mutation_p.G293R	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	293										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						AAACTCTGGGGGAATACCTAC	0.483000													18	120					0	0	1	0	0
LRRC8C	84230	broad.mit.edu	37	1	90180271	90180271	+	Silent	SNP	A	A	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:90180271A>T	ENST00000370454.4	+	3	2397	c.2142A>T	c.(2140-2142)acA>acT	p.T714T	LRRC8C_ENST00000479252.1_Intron|RP11-302M6.4_ENST00000370453.5_Intron	NM_032270.4	NP_115646.2	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	714						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		TTTCCATCACATGTAACAAAG	0.368000													18	43					0	0	1	0	0
ZC3H7B	23264	broad.mit.edu	37	22	41738571	41738571	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr22:41738571G>T	ENST00000352645.4	+	12	1493	c.1236G>T	c.(1234-1236)aaG>aaT	p.K412N	ZC3H7B_ENST00000351589.4_Missense_Mutation_p.K412N	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	428					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			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						TGCTCATCAAGAACCCCTTGG	0.602000													5	99					0.00116845	0.00122986	1	1	0
PCSK5	5125	broad.mit.edu	37	9	78973725	78973725	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr9:78973725G>A	ENST00000545128.1	+	37	6008	c.5470G>A	c.(5470-5472)Gtc>Atc	p.V1824I		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	641					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	extracellular space|Golgi lumen|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						TGATGACATCGTCTACATGGG	0.463000													58	117					0	0	1	0	0
GPR50	9248	broad.mit.edu	37	X	150348992	150348992	+	Silent	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:150348992C>A	ENST00000218316.3	+	2	1006	c.937C>A	c.(937-939)Cgg>Agg	p.R313R		NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	313					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)					CCATGCTATGCGGCACCCTAT	0.542000													27	163					3.65163e-15	5.05905e-15	1	1	0
TPSD1	23430	broad.mit.edu	37	16	1306532	1306532	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr16:1306532T>C	ENST00000211076.3	+	2	246	c.98T>C	c.(97-99)cTg>cCg	p.L33P	TPSD1_ENST00000397534.2_Missense_Mutation_p.L26P	NM_012217.2	NP_036349.1	Q9BZJ3	TRYD_HUMAN	tryptase delta 1	33					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)				GGCCAGGCCCTGCAGCAAACG	0.706000													44	80					0	0	1	0	0
CNOT6	57472	broad.mit.edu	37	5	179991506	179991506	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr5:179991506G>T	ENST00000393356.1	+	7	827	c.403G>T	c.(403-405)Gat>Tat	p.D135Y	CNOT6_ENST00000502447.1_3'UTR|CNOT6_ENST00000261951.4_Missense_Mutation_p.D135Y			Q9ULM6	CNOT6_HUMAN	CCR4-NOT transcription complex, subunit 6	135					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	exonuclease activity|metal ion binding|protein binding|RNA binding			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1)	23	all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.023)		CCTTACCCAGGATATATTGAA	0.303000													27	46					4.22769e-11	5.44046e-11	1	1	0
ABCA13	154664	broad.mit.edu	37	7	48327585	48327585	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr7:48327585G>T	ENST00000435803.1	+	20	8889	c.8865G>T	c.(8863-8865)ttG>ttT	p.L2955F		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2955					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						AGGACATTTTGTGTGCTACTC	0.448000													73	91					8.16569e-41	1.31483e-40	1	1	0
NBAS	51594	broad.mit.edu	37	2	15506814	15506814	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr2:15506814C>G	ENST00000281513.5	-	32	3732	c.3707G>C	c.(3706-3708)cGa>cCa	p.R1236P	NBAS_ENST00000441750.1_Missense_Mutation_p.R1116P	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1236										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						AGGGCACAATCGCACTACAAA	0.458000													31	68					0	0	1	0	0
SMARCA4	6597	broad.mit.edu	37	19	11097630	11097630	+	Silent	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:11097630C>T	ENST00000358026.2	+	5	1094	c.810C>T	c.(808-810)ccC>ccT	p.P270P	SMARCA4_ENST00000344626.4_Silent_p.P270P|SMARCA4_ENST00000450717.3_Silent_p.P270P|SMARCA4_ENST00000444061.3_Silent_p.P270P|SMARCA4_ENST00000429416.3_Silent_p.P270P|SMARCA4_ENST00000413806.3_Silent_p.P270P|SMARCA4_ENST00000590574.1_Silent_p.P270P|SMARCA4_ENST00000589677.1_Silent_p.P270P|SMARCA4_ENST00000541122.2_Silent_p.P270P	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	270	Necessary for interaction with SS18L1/CREST (By similarity).				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GCGTGCCCCCCGGGATGCCAG	0.622000			"""F, N, Mis"""		NSCLC								25	53					0	0	1	0	0
NPPB	4879	broad.mit.edu	37	1	11918483	11918483	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:11918483A>G	ENST00000376468.3	-	2	273	c.176T>C	c.(175-177)gTg>gCg	p.V59A		NM_002521.2	NP_002512.1	P16860	ANFB_HUMAN	natriuretic peptide B	59					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)	TGTCTGCTCCACCTGCAGCTC	0.657000													21	31					0	0	1	0	0
PSD	5662	broad.mit.edu	37	10	104173627	104173627	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr10:104173627C>A	ENST00000020673.5	-	5	1978	c.1452G>T	c.(1450-1452)gaG>gaT	p.E484D	PSD_ENST00000406432.1_Missense_Mutation_p.E484D	NM_001270966.1|NM_002779.3	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	484	Poly-Glu.				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)		CTGCCTCCTCCTCCTCCCCTC	0.677000													8	49					0.00307968	0.00321738	1	1	0
NPBWR2	2832	broad.mit.edu	37	20	62737407	62737407	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr20:62737407C>T	ENST00000369768.1	-	1	1117	c.778G>A	c.(778-780)Gtc>Atc	p.V260I		NM_005286.2	NP_005277.2	P48146	NPBW2_HUMAN	neuropeptides B/W receptor 2	260						plasma membrane	opioid receptor activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					AGGACCAGGACGGTCACCTTC	0.682000													4	25					0	0	1	0	0
NLRP4	147945	broad.mit.edu	37	19	56382275	56382275	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:56382275G>T	ENST00000301295.6	+	7	2859	c.2437G>T	c.(2437-2439)Gac>Tac	p.D813Y	NLRP4_ENST00000346986.5_Missense_Mutation_p.D757Y|NLRP4_ENST00000587891.1_Missense_Mutation_p.D738Y	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	813							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)		GCGCTATCTAGACCTCAGTGC	0.512000													22	57					3.62473e-10	4.55223e-10	1	1	0
RTCB	51493	broad.mit.edu	37	22	32784073	32784073	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr22:32784073T>C	ENST00000216038.5	-	12	1522	c.1424A>G	c.(1423-1425)tAt>tGt	p.Y475C	RTCB_ENST00000451746.2_3'UTR	NM_014306.4	NP_055121.1			RNA 2',3'-cyclic phosphate and 5'-OH ligase																		CACATTCTTATAGGACTCAGG	0.398000													10	17					0	0	1	0	0
RIPK4	54101	broad.mit.edu	37	21	43162145	43162145	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr21:43162145G>A	ENST00000352483.2	-	9	1416	c.1352C>T	c.(1351-1353)aCa>aTa	p.T451I	RIPK4_ENST00000332512.3_Missense_Mutation_p.T403I|RIPK4_ENST00000542057.1_Missense_Mutation_p.T340I|RIPK4_ENST00000544709.1_Missense_Mutation_p.T340I			Q96T11	Q96T11_HUMAN	receptor-interacting serine-threonine kinase 4	403						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			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						CTGGACGTCTGTGGTGCCCAG	0.617000													44	218					0	0	1	0	0
NECAP1	25977	broad.mit.edu	37	12	8245515	8245515	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr12:8245515G>T	ENST00000339754.5	+	6	618	c.540G>T	c.(538-540)agG>agT	p.R180S		NM_015509.3	NP_056324.2	Q8NC96	NECP1_HUMAN	NECAP endocytosis associated 1	180					endocytosis|protein transport	clathrin coated vesicle membrane|plasma membrane				cervix(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				Kidney(36;0.0915)		GGACTGCAAGGGGTGGGGGTC	0.502000													37	113					9.80977e-26	1.50193e-25	1	1	0
DDB1	1642	broad.mit.edu	37	11	61079460	61079460	+	Splice_Site	SNP	C	C	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:61079460C>G	ENST00000301764.7	-	17	2563		c.e17+1		DDB1_ENST00000450997.2_Intron	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa						cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						CTGGGCCTCACCTTGGAGACT	0.542000								Nucleotide excision repair (NER)					57	138					0	0	1	0	0
TMEM215	401498	broad.mit.edu	37	9	32784316	32784316	+	Silent	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr9:32784316C>A	ENST00000342743.5	+	2	500	c.135C>A	c.(133-135)atC>atA	p.I45I		NM_212558.2	NP_997723.2	Q68D42	TM215_HUMAN	transmembrane protein 215	45						integral to membrane				endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)	12						TCCTGGCCATCGGGCCAGCCA	0.597000													18	49					9.7654e-05	0.000106484	1	1	0
BHLHE23	128408	broad.mit.edu	37	20	61637750	61637750	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr20:61637750C>T	ENST00000370346.2	-	1	637	c.329G>A	c.(328-330)cGg>cAg	p.R110Q		NM_080606.3	NP_542173.1	Q8NDY6	BHE23_HUMAN	basic helix-loop-helix family, member e23	110	Arg-rich.|Helix-loop-helix motif.				transcription, DNA-dependent	nucleus	DNA binding			NS(1)	1						CATGcgccgccgctcgcgcgc	0.756000													4	31					0	0	1	0	0
ATP6V1A	523	broad.mit.edu	37	3	113513751	113513751	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr3:113513751G>T	ENST00000273398.3	+	9	1129	c.1021G>T	c.(1021-1023)Ggc>Tgc	p.G341C	ATP6V1A_ENST00000538620.1_Missense_Mutation_p.G308C	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A	341					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CCGTGACATGGGCTATCATGT	0.413000													34	114					3.33393e-15	4.62462e-15	1	1	0
GRIN3A	116443	broad.mit.edu	37	9	104499792	104499792	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr9:104499792C>T	ENST00000361820.3	-	1	1070	c.470G>A	c.(469-471)gGc>gAc	p.G157D		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	157					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	ATCGCCCAGGCCTGCCTCGAT	0.587000													16	27					0	0	1	0	0
ASH1L	55870	broad.mit.edu	37	1	155317646	155317646	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:155317646C>T	ENST00000368346.3	-	20	8258	c.7619G>A	c.(7618-7620)cGa>cAa	p.R2540Q	ASH1L_ENST00000392403.3_Missense_Mutation_p.R2535Q			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2540					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|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)			ATAGGCCTTTCGTAGACGACA	0.463000													20	169					0	0	1	0	0
BLOC1S4	55330	broad.mit.edu	37	4	6718511	6718511	+	Missense_Mutation	SNP	A	A	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr4:6718511A>C	ENST00000320776.3	+	1	670	c.575A>C	c.(574-576)cAg>cCg	p.Q192P		NM_018366.2	NP_060836.1			biogenesis of lysosomal organelles complex-1, subunit 4, cappuccino																		TCGAGGCCACAGCAAGCCGGC	0.622000													7	28					0	0	1	0	0
EPHB6	2051	broad.mit.edu	37	7	142563378	142563378	+	Silent	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr7:142563378C>T	ENST00000392957.2	+	8	1882	c.1095C>T	c.(1093-1095)ccC>ccT	p.P365P	EPHB6_ENST00000442129.1_Silent_p.P365P|EPHB6_ENST00000411471.2_Silent_p.P88P	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	365	Cys-rich.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					CAGAGGCCCCCTGCACTGGTG	0.647000													13	18					0	0	1	0	0
TTLL8	164714	broad.mit.edu	37	22	50470331	50470331	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr22:50470331G>T	ENST00000266182.6	-	11	1490	c.1491C>A	c.(1489-1491)caC>caA	p.H497Q	TTLL8_ENST00000440475.1_Missense_Mutation_p.H477Q					tubulin tyrosine ligase-like family, member 8											NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)		GAGGCTCCACGTGGTCCTGGG	0.632000													22	26					2.27731e-05	2.51998e-05	1	1	0
OR51T1	401665	broad.mit.edu	37	11	4903675	4903675	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:4903675C>A	ENST00000380378.1	+	1	627	c.627C>A	c.(625-627)taC>taA	p.Y209*	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron|OR51T1_ENST00000322049.1_Nonsense_Mutation_p.Y182*	NM_001004759.1	NP_001004759.1	Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	182					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)		CATTTTGCTACCACCCAGAAG	0.433000													39	96					8.69298e-16	1.21865e-15	1	1	0
L1CAM	3897	broad.mit.edu	37	X	153141222	153141222	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:153141222C>G	ENST00000370060.1	-	2	259	c.70G>C	c.(70-72)Gag>Cag	p.E24Q	L1CAM_ENST00000543994.1_Missense_Mutation_p.E24Q|L1CAM_ENST00000370055.1_Missense_Mutation_p.E24Q|L1CAM_ENST00000361699.4_Missense_Mutation_p.E24Q|L1CAM_ENST00000370057.3_Missense_Mutation_p.E24Q|L1CAM_ENST00000538883.1_Missense_Mutation_p.E24Q|L1CAM_ENST00000361981.3_Missense_Mutation_p.E24Q	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	24					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)					TCACATTCCTCGGGGATCTGG	0.632000													11	25					0	0	1	0	0
OR1C1	26188	broad.mit.edu	37	1	247920907	247920907	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:247920907G>C	ENST00000408896.2	-	1	1075	c.802C>G	c.(802-804)Cct>Gct	p.P268A		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	268					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			TCGCTCTCAGGCATATGGGGG	0.517000													24	92					0	0	1	0	0
PDGFRB	5159	broad.mit.edu	37	5	149514548	149514548	+	Silent	SNP	G	G	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr5:149514548G>C	ENST00000261799.4	-	4	865	c.396C>G	c.(394-396)gcC>gcG	p.A132A		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	132	Ig-like C2-type 2.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	ATAGTTCCTCGGCATCATTAG	0.527000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""								20	29					0	0	1	0	0
APBA1	320	broad.mit.edu	37	9	72067157	72067157	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr9:72067157T>C	ENST00000265381.4	-	9	2071	c.1849A>G	c.(1849-1851)Agg>Ggg	p.R617G		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	617	PID.				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						CCATTGGCCCTGAGGAATTCC	0.522000													10	84					0	0	1	0	0
PHKA1	5255	broad.mit.edu	37	X	71864268	71864268	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:71864268A>G	ENST00000373545.3	-	14	1841	c.1403T>C	c.(1402-1404)gTa>gCa	p.V468A	PHKA1_ENST00000339490.3_Missense_Mutation_p.V468A|PHKA1_ENST00000541944.1_Missense_Mutation_p.V468A|PHKA1_ENST00000373539.3_Missense_Mutation_p.V468A|PHKA1_ENST00000373542.4_Missense_Mutation_p.V468A			P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	468					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					GATGGGGTATACCTCAGCAAT	0.423000													6	27					0	0	1	0	0
KCNE1L	23630	broad.mit.edu	37	X	108868031	108868031	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:108868031C>A	ENST00000372101.2	-	1	362	c.219G>T	c.(217-219)ttG>ttT	p.L73F	RP1-136J15.3_ENST00000439581.1_RNA	NM_012282.2	NP_036414.1	Q9UJ90	KCE1L_HUMAN	KCNE1-like	73					regulation of heart contraction	voltage-gated potassium channel complex				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	6						GGCCTCCGGCCAAGCAGGCGT	0.662000													16	51					2.35188e-11	3.04225e-11	1	1	0
JPH4	84502	broad.mit.edu	37	14	24040607	24040607	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr14:24040607C>T	ENST00000397118.3	-	6	2235	c.1333G>A	c.(1333-1335)Ggg>Agg	p.G445R	JPH4_ENST00000356300.4_Missense_Mutation_p.G445R|JPH4_ENST00000544177.1_Missense_Mutation_p.G110R	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN	junctophilin 4	445					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane				endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		TCATATACCCCAGGGCTGTCC	0.647000													25	35					0	0	1	0	0
LIPG	9388	broad.mit.edu	37	18	47107814	47107814	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr18:47107814G>T	ENST00000261292.4	+	6	1101	c.823G>T	c.(823-825)Gag>Tag	p.E275*	LIPG_ENST00000580036.1_Nonsense_Mutation_p.E275*|LIPG_ENST00000427224.2_Nonsense_Mutation_p.E201*|LIPG_ENST00000577628.1_Nonsense_Mutation_p.E311*	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial	275					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						ATGTGAGCATGAGCGAGCCGT	0.468000													18	100					3.32936e-07	3.88945e-07	1	1	0
USP6	9098	broad.mit.edu	37	17	5051863	5051863	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr17:5051863C>T	ENST00000574788.1	+	30	4674	c.2444C>T	c.(2443-2445)tCa>tTa	p.S815L	USP6_ENST00000304328.5_Missense_Mutation_p.S498L|USP6_ENST00000250066.6_Missense_Mutation_p.S815L|USP6_ENST00000332776.4_Missense_Mutation_p.H778Y			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	815					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|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						TTCTCCTCTTCACCATCTACA	0.413000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts								24	36					0	0	1	0	0
AGL	178	broad.mit.edu	37	1	100340950	100340950	+	Nonsense_Mutation	SNP	C	C	T	rs113994128		TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:100340950C>T	ENST00000294724.4	+	10	1700	c.1222C>T	c.(1222-1224)Cga>Tga	p.R408*	AGL_ENST00000477753.1_3'UTR|AGL_ENST00000370165.3_Nonsense_Mutation_p.R408*|AGL_ENST00000361522.4_Nonsense_Mutation_p.R391*|AGL_ENST00000370163.3_Nonsense_Mutation_p.R408*|AGL_ENST00000370161.2_Nonsense_Mutation_p.R392*|AGL_ENST00000361302.3_Nonsense_Mutation_p.R392*|AGL_ENST00000361915.3_Nonsense_Mutation_p.R408*	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	408					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)		GTTTTATGAACGACTGGCTGG	0.358000													13	33					0	0	1	0	0
CHERP	10523	broad.mit.edu	37	19	16643458	16643458	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:16643458C>T	ENST00000546361.2	-	5	776	c.625G>A	c.(625-627)Gag>Aag	p.E209K	CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000198939.6_Missense_Mutation_p.E209K	NM_006387.5	NP_006378.3	Q8IWX8	CHERP_HUMAN	calcium homeostasis endoplasmic reticulum protein	209	CID.				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						AGCCGCAGCTCGAAGTGTGCC	0.647000													8	47					0	0	1	0	0
RGL4	266747	broad.mit.edu	37	22	24034690	24034690	+	Silent	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr22:24034690G>A	ENST00000290691.5	+	2	1518	c.348G>A	c.(346-348)ccG>ccA	p.P116P	RGL4_ENST00000401461.1_5'UTR|GUSBP11_ENST00000417194.1_RNA	NM_153615.1	NP_705843.1	Q8IZJ4	RGDSR_HUMAN	ral guanine nucleotide dissociation stimulator-like 4	116	Pro-rich.				small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle	guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3)	15						TGGTGCTTCCGGAGCCCAACG	0.572000													5	64					0	0	1	0	0
LRRC37A2	474170	broad.mit.edu	37	17	44632733	44632733	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr17:44632733C>T	ENST00000576629.1	+	14	5492	c.4997C>T	c.(4996-4998)gCa>gTa	p.A1666V	ARL17A_ENST00000329240.4_Intron|LRRC37A2_ENST00000333412.3_Missense_Mutation_p.A1666V|ARL17A_ENST00000337845.7_Intron|ARL17A_ENST00000573185.1_Intron|ARL17A_ENST00000445552.2_Intron|ARL17A_ENST00000570550.1_Intron|ARL17A_ENST00000336125.5_3'UTR			A6NM11	L37A2_HUMAN	leucine rich repeat containing 37, member A2	1666						integral to membrane				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2)	15		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		AATAATCATGCATGGAAGCTG	0.448000													9	144					0	0	1	0	0
KRT13	3860	broad.mit.edu	37	17	39658986	39658986	+	Missense_Mutation	SNP	G	G	T	rs146126348		TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr17:39658986G>T	ENST00000246635.3	-	5	1022	c.976C>A	c.(976-978)Cgc>Agc	p.R326S	KRT13_ENST00000587544.1_Missense_Mutation_p.R326S|KRT13_ENST00000336861.3_Missense_Mutation_p.R326S	NM_153490.2	NP_705694.2	P13646	K1C13_HUMAN	keratin 13	326	Coil 2.|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)				TGGAGCGTGCGCCTGAGCTCC	0.577000													85	158					8.14536e-31	1.27941e-30	1	1	0
MED27	9442	broad.mit.edu	37	9	134738474	134738474	+	Silent	SNP	C	C	T	rs144516383		TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr9:134738474C>T	ENST00000292035.5	-	7	840	c.777G>A	c.(775-777)ccG>ccA	p.P259P	MED27_ENST00000357028.2_Silent_p.P185P|MED27_ENST00000372184.3_Silent_p.P223P	NM_004269.3	NP_004260.2	Q6P2C8	MED27_HUMAN	mediator complex subunit 27	259					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleolus|transcription factor complex	protein binding|transcription coactivator activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1)	18		Myeloproliferative disorder(178;0.206)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000193)		CCACGACATCCGGCATCTGGG	0.552000													5	41					0	0	1	0	0
FASN	2194	broad.mit.edu	37	17	80050629	80050629	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr17:80050629C>G	ENST00000306749.2	-	7	1056	c.838G>C	c.(838-840)Gcc>Ccc	p.A280P		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	280	Beta-ketoacyl synthase (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	cytosol|Golgi apparatus|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)	GCCACTCCGGCCGACTGGTAC	0.667000													3	14					0	0	1	0	0
USP4	7375	broad.mit.edu	37	3	49338076	49338076	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr3:49338076C>A	ENST00000351842.4	-	10	1203	c.1195G>T	c.(1195-1197)Gtg>Ttg	p.V399L	USP4_ENST00000488520.1_5'UTR|USP4_ENST00000265560.4_Missense_Mutation_p.V446L	NM_199443.2	NP_955475.1	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	446					negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		TCCACAATCACAGAATCATTC	0.473000													10	29					1.58986e-06	1.82314e-06	1	1	0
DZIP3	9666	broad.mit.edu	37	3	108396394	108396394	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr3:108396394T>A	ENST00000361582.3	+	26	3062	c.2832T>A	c.(2830-2832)agT>agA	p.S944R	DZIP3_ENST00000463306.1_Missense_Mutation_p.S944R	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	944					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						TTGCCTTGAGTACCTTGCCTC	0.378000													62	173					0	0	1	0	0
GGT7	2686	broad.mit.edu	37	20	33437796	33437796	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr20:33437796G>C	ENST00000336431.5	-	14	1837	c.1793C>G	c.(1792-1794)cCg>cGg	p.P598R	GGT7_ENST00000469018.1_5'UTR	NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	598					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						CTGCAGGTCCGGGTGTAGGCG	0.607000													17	47					0	0	1	0	0
AOX1	316	broad.mit.edu	37	2	201501757	201501757	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr2:201501757G>C	ENST00000374700.2	+	22	2711	c.2470G>C	c.(2470-2472)Gcc>Ccc	p.A824P	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	824					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD 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)	CACTGCATTTGCCGCAAACAA	0.458000													16	36					0	0	1	0	0
TIGD3	220359	broad.mit.edu	37	11	65124546	65124546	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:65124546G>T	ENST00000309880.5	+	2	1474	c.1267G>T	c.(1267-1269)Ggt>Tgt	p.G423C		NM_145719.2	NP_663771.1	Q6B0B8	TIGD3_HUMAN	tigger transposable element derived 3	423					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						GGACAGAGAGGGTGCCTTTGA	0.577000													68	95					1.33661e-31	2.10683e-31	1	1	0
TRIM50	135892	broad.mit.edu	37	7	72738530	72738530	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr7:72738530G>C	ENST00000333149.2	-	2	456	c.256C>G	c.(256-258)Ccc>Gcc	p.P86A	TRIM50_ENST00000453152.1_Missense_Mutation_p.P86A|TRIM50_ENST00000493498.1_5'UTR	NM_178125.2	NP_835226.1	Q86XT4	TRI50_HUMAN	tripartite motif containing 50	86						cytoplasm|intracellular membrane-bounded organelle	ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)	20						CAGACCTTGGGCTCCGGGTCC	0.682000											OREG0018105	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	103					0	0	1	0	0
COLEC12	81035	broad.mit.edu	37	18	331745	331745	+	Silent	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr18:331745C>T	ENST00000400256.3	-	8	2193	c.1986G>A	c.(1984-1986)gaG>gaA	p.E662E		NM_130386.2	NP_569057.1	Q5KU26	COL12_HUMAN	collectin sub-family member 12	662	C-type lectin.				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)				TCCAGTGGCTCTCTCTCCCTA	0.453000													32	22					0	0	1	0	0
RPS6KA6	27330	broad.mit.edu	37	X	83361409	83361409	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:83361409G>T	ENST00000262752.2	-	15	1336	c.1329C>A	c.(1327-1329)tgC>tgA	p.C443*	RPS6KA6_ENST00000495332.1_5'UTR|RPS6KA6_ENST00000543399.1_Nonsense_Mutation_p.C443*	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	443	Protein kinase 2.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						TTGCATGTATGCATCGCTTGC	0.353000													6	24					0.00116845	0.00122986	1	1	0
TTLL7	79739	broad.mit.edu	37	1	84372018	84372018	+	Silent	SNP	T	T	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:84372018T>A	ENST00000260505.8	-	17	2498	c.2121A>T	c.(2119-2121)atA>atT	p.I707I	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	707					cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		TCACATCTTCTATCAGAAGTT	0.348000													29	79					0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56544040	56544040	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:56544040C>A	ENST00000390649.3	+	8	2340	c.2340C>A	c.(2338-2340)caC>caA	p.H780Q		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	780						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)		TTGGCACCCACCCACACCTGC	0.577000													12	58					0.000978159	0.00103296	1	1	0
TRPV2	51393	broad.mit.edu	37	17	16326145	16326145	+	Silent	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr17:16326145G>A	ENST00000338560.7	+	4	966	c.567G>A	c.(565-567)gtG>gtA	p.V189V	TRPV2_ENST00000577397.1_5'UTR	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	189	Required for interaction with SLC50A1 (By similarity).				sensory perception	integral to plasma membrane|melanosome	calcium channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		GGGCCAATGTGCATGCCCGGG	0.547000													3	6					0	0	1	0	0
TLR3	7098	broad.mit.edu	37	4	187004485	187004485	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr4:187004485G>A	ENST00000296795.2	+	4	1749	c.1645G>A	c.(1645-1647)Gca>Aca	p.A549T	TLR3_ENST00000504367.1_Missense_Mutation_p.A272T	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	549					activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|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-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|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 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-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;0.0066)|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;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		CTGGAAACACGCAAACCCTGG	0.453000													34	72					0	0	1	0	0
DOCK7	85440	broad.mit.edu	37	1	63018570	63018570	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:63018570G>A	ENST00000251157.5	-	22	2632	c.2599C>T	c.(2599-2601)Cct>Tct	p.P867S	DOCK7_ENST00000340370.5_Missense_Mutation_p.P867S	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	867					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|guanyl-nucleotide exchange factor activity|Rac GTPase binding			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						AAACCCCCAGGACCTAGAGTT	0.388000													11	32					0	0	1	0	0
NAGPA	51172	broad.mit.edu	37	16	5075585	5075585	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr16:5075585C>T	ENST00000312251.3	-	10	1461	c.1442G>A	c.(1441-1443)cGc>cAc	p.R481H	NAGPA_ENST00000381955.3_Missense_Mutation_p.R447H|RP11-165E7.1_ENST00000588778.1_RNA	NM_016256.3	NP_057340.2	Q9UK23	NAGPA_HUMAN	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	481					carbohydrate metabolic process|lysosome organization|protein modification process|protein targeting to lysosome	Golgi cisterna membrane|integral to membrane	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity			endometrium(4)|large_intestine(4)|lung(3)|urinary_tract(1)	12					N-Acetyl-D-glucosamine(DB00141)	CCCATGCAGGCGCCGGTTCCT	0.647000													10	113					0	0	1	0	0
DIO2	1734	broad.mit.edu	37	14	80669291	80669291	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr14:80669291T>A	ENST00000557010.1	-	4	948	c.563A>T	c.(562-564)cAg>cTg	p.Q188L	DIO2_ENST00000557125.1_3'UTR|DIO2_ENST00000438257.4_Missense_Mutation_p.Q188L|DIO2_ENST00000555750.1_Missense_Mutation_p.Q224L|DIO2_ENST00000422005.3_3'UTR	NM_000793.5|NM_001242502.1|NM_001242503.1	NP_000784.2|NP_001229431.1|NP_001229432.1	Q92813	IOD2_HUMAN	deiodinase, iodothyronine, type II	188					hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation	integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.0281)		TCGATCTTCCTGGTTCTGGTG	0.552000											OREG0022848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	33	47					0	0	1	0	0
DDHD2	23259	broad.mit.edu	37	8	38107282	38107282	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr8:38107282G>T	ENST00000397166.2	+	11	1830	c.1305G>T	c.(1303-1305)aaG>aaT	p.K435N	DDHD2_ENST00000520272.2_Missense_Mutation_p.K435N|DDHD2_ENST00000517385.1_Missense_Mutation_p.K54N	NM_015214.2	NP_056029.2	O94830	DDHD2_HUMAN	DDHD domain containing 2	435	SAM.				lipid catabolic process	centrosome	hydrolase activity|metal ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			GACCAAGAAAGAAGATATTAA	0.348000													12	21					4.3838e-07	5.10798e-07	1	1	0
POU4F3	5459	broad.mit.edu	37	5	145719248	145719248	+	Silent	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr5:145719248G>A	ENST00000230732.4	+	2	347	c.258G>A	c.(256-258)gtG>gtA	p.V86V	CTC-359M8.1_ENST00000515598.1_RNA	NM_002700.2	NP_002691.1	Q15319	PO4F3_HUMAN	POU class 4 homeobox 3	86					sensory perception of sound|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGAGCAGCGTGCCCTGCACGT	0.662000													23	69					0	0	1	0	0
SH3BP4	23677	broad.mit.edu	37	2	235950663	235950663	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr2:235950663G>T	ENST00000409212.1	+	4	1757	c.1250G>T	c.(1249-1251)aGg>aTg	p.R417M	SH3BP4_ENST00000392011.2_Missense_Mutation_p.R417M|SH3BP4_ENST00000344528.4_Missense_Mutation_p.R417M			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	417					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		CAGTGCCTGAGGAGCGACTCG	0.532000													6	71					0.0381472	0.0387871	1	1	0
C14orf183	196913	broad.mit.edu	37	14	50550573	50550573	+	Silent	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr14:50550573G>A	ENST00000305273.1	-	5	770	c.771C>T	c.(769-771)ggC>ggT	p.G257G	RP11-58E21.5_ENST00000556019.2_lincRNA	NM_001014830.1	NP_001014830.1	Q8WXQ3	CN183_HUMAN	chromosome 14 open reading frame 183	257										endometrium(2)|large_intestine(2)|lung(3)	7						CAGTCTCCTCGCCCACCCACT	0.672000													11	60					0	0	1	0	0
MTNR1B	4544	broad.mit.edu	37	11	92715238	92715238	+	Silent	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:92715238C>A	ENST00000257068.2	+	2	855	c.849C>A	c.(847-849)ccC>ccA	p.P283P		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	283					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)	AAATGGCTCCCCAGATCCCTG	0.498000													67	252					2.54232e-27	3.92999e-27	1	1	0
DNAH17	8632	broad.mit.edu	37	17	76525651	76525651	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr17:76525651G>A	ENST00000389840.5	-	22	3534	c.3410C>T	c.(3409-3411)gCa>gTa	p.A1137V	DNAH17_ENST00000585328.1_Missense_Mutation_p.A1134V					dynein, axonemal, heavy chain 17											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)			GTCGGTGGCTGCTTGCCTCTC	0.557000													19	150					0	0	1	0	0
ARGFX	503582	broad.mit.edu	37	3	121305243	121305243	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr3:121305243C>A	ENST00000334384.3	+	4	754	c.744C>A	c.(742-744)caC>caA	p.H248Q		NM_001012659.1	NP_001012677.1	A6NJG6	ARGFX_HUMAN	arginine-fifty homeobox	248						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)		CTTCTTTCCACTGTCTGTATC	0.468000													33	68					4.3181e-19	6.29746e-19	1	1	0
DAPK3	1613	broad.mit.edu	37	19	3960103	3960103	+	Splice_Site	SNP	C	C	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:3960103C>G	ENST00000545797.2	-	8	1026		c.e8-1		DAPK3_ENST00000301264.3_Splice_Site			O43293	DAPK3_HUMAN	death-associated protein kinase 3						apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade	cytoplasm|PML body	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)		CATTCTCCGCCTGGAAGACCC	0.617000													64	183					0	0	1	0	0
PROX1	5629	broad.mit.edu	37	1	214170682	214170682	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:214170682T>A	ENST00000366958.4	+	2	1412	c.804T>A	c.(802-804)aaT>aaA	p.N268K	PROX1_ENST00000435016.1_Missense_Mutation_p.N268K|PROX1_ENST00000261454.4_Missense_Mutation_p.N268K|PROX1_ENST00000498508.2_Missense_Mutation_p.N268K	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	268					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 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 S phase of mitotic cell cycle|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)		ATTCGGAAAATGATGAAGATG	0.527000													6	72					0	0	1	0	0
ZNF816	125893	broad.mit.edu	37	19	53453535	53453535	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:53453535C>T	ENST00000357666.4	-	5	1793	c.1493G>A	c.(1492-1494)cGt>cAt	p.R498H	ZNF816_ENST00000434371.2_Intron|ZNF321P_ENST00000391777.3_Intron|ZNF816_ENST00000444460.2_Missense_Mutation_p.R498H	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	498					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						TCTATGATGACGTGCAAGGTT	0.393000													10	88					0	0	1	0	0
TRPC4AP	26133	broad.mit.edu	37	20	33665865	33665865	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr20:33665865C>A	ENST00000252015.2	-	2	370	c.281G>T	c.(280-282)tGt>tTt	p.C94F	TRPC4AP_ENST00000432634.2_Missense_Mutation_p.C94F|TRPC4AP_ENST00000451813.1_Missense_Mutation_p.C94F			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein	94	Interaction with TNFRSF1A (By similarity).				protein ubiquitination|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	protein binding			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			GATGTTTTGACACTCAACAAA	0.488000													17	60					3.8784e-16	5.46436e-16	1	1	0
MUC16	94025	broad.mit.edu	37	19	9014572	9014572	+	Silent	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:9014572C>A	ENST00000397910.4	-	31	38606	c.38403G>T	c.(38401-38403)ctG>ctT	p.L12801L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12803	SEA 5.			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						TGTAGGGACCCAGCTCTTTGA	0.542000													33	137					5.34276e-22	7.99987e-22	1	1	0
SIRPB2	284759	broad.mit.edu	37	20	1460538	1460538	+	Silent	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr20:1460538G>A	ENST00000359801.3	-	2	294	c.258C>T	c.(256-258)aaC>aaT	p.N86N	SIRPB2_ENST00000537284.1_Intron|SIRPB2_ENST00000381630.1_Intron|SIRPB2_ENST00000444444.1_Intron	NM_001122962.1	NP_001116434.1	Q5JXA9	SIRB2_HUMAN	signal-regulatory protein beta 2	86	Ig-like V-type 1.					integral to membrane				endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CACGTTTAAAGTTATAAATTT	0.463000													10	88					0	0	1	0	0
RBM44	375316	broad.mit.edu	37	2	238726844	238726844	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr2:238726844A>T	ENST00000316997.4	+	3	1417	c.1285A>T	c.(1285-1287)Acg>Tcg	p.T429S	RBM44_ENST00000409864.1_Missense_Mutation_p.T429S|RBM44_ENST00000444524.2_Intron	NM_001080504.2	NP_001073973.2	Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	428							nucleotide binding|RNA binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		AGAAGATAATACGTCCCTAAA	0.373000													12	29					0	0	1	0	0
UNC5B	219699	broad.mit.edu	37	10	73046537	73046537	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr10:73046537C>A	ENST00000335350.6	+	5	1060	c.644C>A	c.(643-645)gCc>gAc	p.A215D	UNC5B_ENST00000373192.4_Missense_Mutation_p.A215D	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	215	Ig-like C2-type.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						ATCCGCCAGGCCCGCCTGTCG	0.597000													67	154					9.42754e-34	1.49336e-33	1	1	0
MCM3AP	8888	broad.mit.edu	37	21	47655302	47655302	+	Silent	SNP	C	C	T	rs141757607	byFrequency	TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr21:47655302C>T	ENST00000397708.1	-	29	6077	c.5823G>A	c.(5821-5823)gcG>gcA	p.A1941A	MCM3AP_ENST00000291688.1_Silent_p.A1941A|MCM3AP-AS1_ENST00000420074.1_RNA|MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP-AS1_ENST00000444998.1_RNA|MCM3AP-AS1_ENST00000421927.1_RNA|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP-AS1_ENST00000432735.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP-AS1_ENST00000588753.1_RNA			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	1941			A -> V (in dbSNP:rs17183403).		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)					ACGTTCCTGTCGCCTCTGACA	0.488000													8	32					0	0	1	0	0
C1orf174	339448	broad.mit.edu	37	1	3807190	3807190	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:3807190G>T	ENST00000361605.3	-	3	659	c.561C>A	c.(559-561)gaC>gaA	p.D187E	C1orf174_ENST00000486765.1_5'UTR	NM_207356.2	NP_997239.2	Q8IYL3	CA174_HUMAN	chromosome 1 open reading frame 174	187										endometrium(1)|large_intestine(5)|lung(4)|prostate(1)	11	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;5.09e-25)|all_epithelial(116;9.35e-17)|all_lung(118;1.09e-06)|Lung NSC(185;0.000139)|all_neural(13;0.00287)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0219)|all_hematologic(16;0.027)|Colorectal(325;0.0276)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;1.55e-39)|OV - Ovarian serous cystadenocarcinoma(86;5.99e-23)|GBM - Glioblastoma multiforme(42;2.22e-17)|Colorectal(212;1.08e-05)|COAD - Colon adenocarcinoma(227;5.49e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000365)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.19)		GATTGCTGTCGTCATCTAGAA	0.557000													17	55					2.94398e-08	3.52555e-08	1	1	0
DGKK	139189	broad.mit.edu	37	X	50213191	50213191	+	RNA	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:50213191G>A	ENST00000376025.2	-	0	546							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					CAGAACTCTGGGGCCAGCTCT	0.617000													11	36					0	0	1	0	0
MEFV	4210	broad.mit.edu	37	16	3293550	3293550	+	Missense_Mutation	SNP	G	G	A	rs104895107		TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr16:3293550G>A	ENST00000219596.1	-	10	1976	c.1937C>T	c.(1936-1938)cCg>cTg	p.P646L	MEFV_ENST00000339854.4_Missense_Mutation_p.P466L|MEFV_ENST00000536379.1_Missense_Mutation_p.P435L|MEFV_ENST00000541159.1_3'UTR	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	646	B30.2/SPRY.		P -> L (in arFMF).		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)	GAGGAAACTCGGAGAGCCCAG	0.522000													9	275					0	0	1	0	0
FCRL1	115350	broad.mit.edu	37	1	157771735	157771735	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:157771735G>T	ENST00000358292.3	-	5	907	c.856C>A	c.(856-858)Cgc>Agc	p.R286S	FCRL1_ENST00000489998.1_5'UTR|FCRL1_ENST00000368176.3_Missense_Mutation_p.R286S|FCRL1_ENST00000491942.1_Missense_Mutation_p.R286S	NM_001159397.1	NP_001152869.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	286	Ig-like C2-type 3.					integral to membrane|plasma membrane	receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GCCTCACTGCGCTGGGCCCCC	0.562000													76	51					7.09011e-46	1.14658e-45	1	1	0
IGHV1-58	28464	broad.mit.edu	37	14	107078537	107078537	+	RNA	SNP	G	G	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr14:107078537G>C	ENST00000390628.2	-	0	247																											CACTCAAGGCGTTGTCCACGA	0.527000													21	95					0	0	1	0	0
PAPD7	11044	broad.mit.edu	37	5	6746473	6746473	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr5:6746473G>T	ENST00000230859.6	+	7	771	c.642G>T	c.(640-642)gaG>gaT	p.E214D		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	214	PAP-associated.				cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CCAAAGAGGAGATCATGAAAG	0.473000													67	293					2.64105e-45	4.26485e-45	1	1	0
CRTAM	56253	broad.mit.edu	37	11	122720920	122720920	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:122720920C>A	ENST00000227348.4	+	2	238	c.191C>A	c.(190-192)cCt>cAt	p.P64H		NM_019604.2	NP_062550.2	O95727	CRTAM_HUMAN	cytotoxic and regulatory T cell molecule	64	Ig-like V-type.				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)		AATGAGTATCCTGGTAAGTGA	0.488000													18	73					2.4624e-09	3.02639e-09	1	1	0
BRE	9577	broad.mit.edu	37	2	28248183	28248183	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr2:28248183C>T	ENST00000344773.2	+	5	529	c.391C>T	c.(391-393)Cgc>Tgc	p.R131C	BRE_ENST00000379624.1_Missense_Mutation_p.R131C|BRE_ENST00000379632.2_Missense_Mutation_p.R131C|BRE_ENST00000342045.2_Missense_Mutation_p.R131C|BRE_ENST00000361704.2_Missense_Mutation_p.R131C|BRE_ENST00000603461.1_3'UTR	NM_004899.4	NP_004890.2	Q9NXR7	BRE_HUMAN	brain and reproductive organ-expressed (TNFRSF1A modulator)	131	UEV-like 1.				apoptosis|chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of anti-apoptosis|positive regulation of DNA repair|response to ionizing radiation|signal transduction	BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex	peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23	Acute lymphoblastic leukemia(172;0.155)					CCAATGTAGCCGCCTCCGGGA	0.443000													25	50					0	0	1	0	0
CRMP1	1400	broad.mit.edu	37	4	5827333	5827333	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr4:5827333C>G	ENST00000324989.7	-	13	1945	c.1857G>C	c.(1855-1857)gaG>gaC	p.E619D	CRMP1_ENST00000397890.2_Missense_Mutation_p.E505D|CRMP1_ENST00000511535.1_5'UTR|CRMP1_ENST00000512574.1_Missense_Mutation_p.E503D|EVC_ENST00000382674.2_Intron	NM_001014809.1	NP_001014809.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1	505					axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding			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)		TAGCTGGTACCTCGTACACAG	0.512000													21	36					0	0	1	0	0
PALB2	79728	broad.mit.edu	37	16	23635337	23635337	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr16:23635337C>T	ENST00000261584.4	-	8	2979	c.2827G>A	c.(2827-2829)Gag>Aag	p.E943K	CTD-2196E14.3_ENST00000561764.1_RNA	NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	943	Interaction with RAD51 and BRCA2.				double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		TACCTGATCTCTCTGATTTCC	0.393000			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks					7	38					0	0	1	0	0
NCAPH	23397	broad.mit.edu	37	2	97008912	97008912	+	Silent	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr2:97008912G>A	ENST00000455200.1	+	5	727	c.432G>A	c.(430-432)gcG>gcA	p.A144A	NCAPH_ENST00000240423.4_Silent_p.A155A|NCAPH_ENST00000427946.1_Silent_p.A19A			Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	155					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				AGGTGGCTGCGGGTACTCTGG	0.483000													16	50					0	0	1	0	0
ACSM4	341392	broad.mit.edu	37	12	7476111	7476111	+	Silent	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr12:7476111C>A	ENST00000399422.4	+	9	1311	c.1263C>A	c.(1261-1263)ctC>ctA	p.L421L		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	421					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			endometrium(6)|kidney(1)|lung(14)	21						AAATTGCCCTCAGACTCAAAC	0.373000													19	32					2.4624e-09	3.02639e-09	1	1	0
DET1	55070	broad.mit.edu	37	15	89056257	89056257	+	Silent	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr15:89056257C>T	ENST00000564406.1	-	6	1771	c.1611G>A	c.(1609-1611)gaG>gaA	p.E537E	DET1_ENST00000444300.1_Silent_p.E537E|DET1_ENST00000268148.8_Silent_p.E526E	NM_017996.3	NP_060466.2	Q7L5Y6	DET1_HUMAN	de-etiolated homolog 1 (Arabidopsis)	526						nucleus				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)			TAGCGAAAGGCTCAAAAGGGT	0.527000													16	37					0	0	1	0	0
DENND5A	23258	broad.mit.edu	37	11	9165709	9165709	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:9165709G>A	ENST00000328194.3	-	19	3559	c.3239C>T	c.(3238-3240)cCg>cTg	p.P1080L	DENND5A_ENST00000530044.1_Missense_Mutation_p.P1080L|DENND5A_ENST00000527700.1_Missense_Mutation_p.P423L	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	1080										breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CTGCAGCGGCGGGGTCCGGCA	0.607000													61	61					0	0	1	0	0
FBLN7	129804	broad.mit.edu	37	2	112896309	112896309	+	Splice_Site	SNP	T	T	C	rs71988542		TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr2:112896309T>C	ENST00000331203.2	+	1	346		c.e1+2		FBLN7_ENST00000409667.3_Splice_Site|FBLN7_ENST00000409903.1_Splice_Site|FBLN7_ENST00000409450.3_Splice_Site	NM_001128165.1|NM_153214.2	NP_001121637.1|NP_694946.2	Q53RD9	FBLN7_HUMAN	fibulin 7						cell adhesion	proteinaceous extracellular matrix	calcium ion binding|heparin binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						GCTTCCCAGGTCAGTGtccct	0.701000													7	23					0	0	1	0	0
NDC1	55706	broad.mit.edu	37	1	54262697	54262697	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:54262697C>A	ENST00000371429.3	-	12	1941	c.1343G>T	c.(1342-1344)gGg>gTg	p.G448V	NDC1_ENST00000234725.8_Missense_Mutation_p.G333V|NDC1_ENST00000537333.1_Missense_Mutation_p.G113V|NDC1_ENST00000540001.1_Missense_Mutation_p.G448V	NM_001168551.1|NM_018087.4	NP_001162023.1|NP_060557.3			NDC1 transmembrane nucleoporin																		AAATGGGGTCCCAAATGGGCT	0.448000													25	53					5.35356e-11	6.83829e-11	1	1	0
FCN1	2219	broad.mit.edu	37	9	137804347	137804347	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr9:137804347C>A	ENST00000371806.3	-	7	674	c.583G>T	c.(583-585)Gcc>Tcc	p.A195S		NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN	ficolin (collagen/fibrinogen domain containing) 1	195	Fibrinogen C-terminal.				opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding			endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		GCAGTCAGGGCGTGGATGTTG	0.637000													13	39					2.27111e-07	2.67267e-07	1	1	0
MYO16	23026	broad.mit.edu	37	13	109793318	109793318	+	Silent	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr13:109793318C>T	ENST00000356711.2	+	32	4818	c.4692C>T	c.(4690-4692)tcC>tcT	p.S1564S	MYO16_ENST00000357550.2_Silent_p.S1564S	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	1564	Pro-rich.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TCAACGGGTCCGGCCGAGCCT	0.801000													6	3					0	0	1	0	0
TDRD5	163589	broad.mit.edu	37	1	179659964	179659964	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:179659964G>T	ENST00000444136.1	+	18	3244	c.2994G>T	c.(2992-2994)caG>caT	p.Q998H	TDRD5_ENST00000294848.8_Missense_Mutation_p.Q944H|TDRD5_ENST00000367614.1_Missense_Mutation_p.Q944H	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	944					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						AGATTTCTCAGAAGCTCTACA	0.468000													16	48					0.00074312	0.000785124	1	1	0
GRM6	2916	broad.mit.edu	37	5	178418432	178418432	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr5:178418432C>A	ENST00000231188.5	-	3	1028	c.850G>T	c.(850-852)Gac>Tac	p.D284Y	GRM6_ENST00000517717.1_Missense_Mutation_p.D284Y	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	284					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|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)	all cancers(165;0.245)		CACCTGATGTCATCCTCATTG	0.597000													53	71					3.39706e-21	5.06285e-21	1	1	0
DNAH11	8701	broad.mit.edu	37	7	21932145	21932145	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr7:21932145C>T	ENST00000328843.6	+	78	12662	c.12631C>T	c.(12631-12633)Ccg>Tcg	p.P4211S	DNAH11_ENST00000409508.3_Missense_Mutation_p.P4204S			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	4211					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						TCCAGAAAGCCCGGCACTGTA	0.507000									Kartagener syndrome				62	60					0	0	1	0	0
THOC2	57187	broad.mit.edu	37	X	122757067	122757067	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:122757067G>T	ENST00000245838.8	-	29	3602	c.3571C>A	c.(3571-3573)Ccc>Acc	p.P1191T	THOC2_ENST00000491737.1_Missense_Mutation_p.P1076T|THOC2_ENST00000355725.4_Missense_Mutation_p.P1191T	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	1191					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						CTCGGAGGGGGGTCTTTGTGA	0.433000													30	122					1.30897e-18	1.89543e-18	1	1	0
FAM13C	220965	broad.mit.edu	37	10	61062615	61062615	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr10:61062615C>A	ENST00000373867.3	-	6	669	c.204G>T	c.(202-204)caG>caT	p.Q68H	FAM13C_ENST00000510215.2_5'UTR|FAM13C_ENST00000442566.3_Missense_Mutation_p.Q151H|FAM13C_ENST00000373868.2_Missense_Mutation_p.Q151H|FAM13C_ENST00000468840.2_Missense_Mutation_p.Q68H|FAM13C_ENST00000435852.2_Missense_Mutation_p.Q151H|FAM13C_ENST00000422313.2_Missense_Mutation_p.Q151H|FAM13C_ENST00000277705.6_Missense_Mutation_p.Q151H|FAM13C_ENST00000419214.2_Missense_Mutation_p.Q151H	NM_001166698.1	NP_001160170.1	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	151										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						TGGCAGTCCTCTGGTCTATTC	0.378000													23	53					9.39395e-14	1.26626e-13	1	1	0
IL31RA	133396	broad.mit.edu	37	5	55179017	55179017	+	Silent	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr5:55179017C>A	ENST00000396834.1	+	7	1039	c.543C>A	c.(541-543)acC>acA	p.T181T	IL31RA_ENST00000396836.2_Silent_p.T200T|IL31RA_ENST00000359040.5_Silent_p.T200T|IL31RA_ENST00000447346.2_Silent_p.T200T|IL31RA_ENST00000297015.3_Silent_p.T58T|IL31RA_ENST00000354961.4_Silent_p.T181T|IL31RA_ENST00000490985.1_Silent_p.T58T	NM_001242638.1	NP_001229567.1	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	168	Fibronectin type-III 2.				anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|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)				TCAACAGTACCAGCTGGGTAA	0.368000													16	19					1.5739e-10	1.99337e-10	1	1	0
RQCD1	9125	broad.mit.edu	37	2	219452363	219452363	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr2:219452363A>T	ENST00000273064.6	+	5	860	c.485A>T	c.(484-486)gAa>gTa	p.E162V	RQCD1_ENST00000509807.2_Missense_Mutation_p.E194V|RQCD1_ENST00000542068.1_Missense_Mutation_p.E162V|RQCD1_ENST00000295701.5_Missense_Mutation_p.E162V	NM_005444.2	NP_005435.1	Q92600	RCD1_HUMAN	RCD1 required for cell differentiation1 homolog (S. pombe)	162					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|sex differentiation|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)	15		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000192)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTAACAACAGAAATTATCCCT	0.308000													3	21					0	0	1	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64617586	64617586	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr3:64617586G>A	ENST00000498707.1	-	15	2533	c.2191C>T	c.(2191-2193)Cat>Tat	p.H731Y	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.H703Y	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	731	Cys-rich.				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)		TTTAAAACATGATCGCATCCA	0.333000													8	21					0	0	1	0	0
LMX1A	4009	broad.mit.edu	37	1	165324790	165324790	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:165324790C>A	ENST00000342310.3	-	2	389	c.7G>T	c.(7-9)Gac>Tac	p.D3Y	LMX1A_ENST00000294816.2_Missense_Mutation_p.D3Y|LMX1A_ENST00000367893.4_Missense_Mutation_p.D3Y	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	3						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					TTTAGGCCGTCCAGCATGTTC	0.652000													13	31					0.000219431	0.000236741	1	1	0
SETDB2	83852	broad.mit.edu	37	13	50050716	50050716	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr13:50050716G>T	ENST00000354234.4	+	6	1316	c.410G>T	c.(409-411)gGt>gTt	p.G137V	SETDB2_ENST00000317257.8_Missense_Mutation_p.G149V|SETDB2_ENST00000258672.5_Missense_Mutation_p.G137V	NM_001160308.1	NP_001153780.1	Q96T68	SETB2_HUMAN	SET domain, bifurcated 2	149					cell division|chromosome segregation|heart looping|left/right axis specification|mitosis|negative regulation of transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone methyltransferase activity (H3-K9 specific)|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	15		Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.1e-09)		GACTGCTCTGGTGCTTGTCTG	0.388000													21	109					5.35356e-11	6.83829e-11	1	1	0
FAM83H	286077	broad.mit.edu	37	8	144810154	144810154	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr8:144810154C>G	ENST00000388913.3	-	5	1602	c.1477G>C	c.(1477-1479)Gcc>Ccc	p.A493P		NM_198488.3	NP_940890.3	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	493					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CGGGGCCCGGCGCCCAGGGTG	0.766000													3	10					0	0	1	0	0
PFKFB2	5208	broad.mit.edu	37	1	207240992	207240992	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:207240992G>A	ENST00000367080.3	+	9	905	c.781G>A	c.(781-783)Gag>Aag	p.E261K	PFKFB2_ENST00000541914.1_Missense_Mutation_p.E75K|PFKFB2_ENST00000545806.1_Missense_Mutation_p.E228K|PFKFB2_ENST00000367079.2_Missense_Mutation_p.E261K|PFKFB2_ENST00000411990.2_Missense_Mutation_p.E163K	NM_006212.2	NP_006203.2	O60825	F262_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2	261	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			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	20	Prostate(682;0.19)					TGGAGAAAGCGAGTTCAATCT	0.502000													26	180					0	0	1	0	0
RNASE10	338879	broad.mit.edu	37	14	20979089	20979089	+	Silent	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr14:20979089C>T	ENST00000430083.1	+	2	947	c.543C>T	c.(541-543)aaC>aaT	p.N181N	RNASE10_ENST00000328444.5_Silent_p.N153N			Q5GAN6	RNS10_HUMAN	ribonuclease, RNase A family, 10 (non-active)	153						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			endometrium(1)|large_intestine(2)|lung(8)|urinary_tract(1)	12	all_cancers(95;0.00123)		Epithelial(56;1.81e-07)|all cancers(55;1.86e-06)	GBM - Glioblastoma multiforme(265;0.022)|READ - Rectum adenocarcinoma(17;0.191)		CTGTCTGTAACAGTCCTGTCA	0.478000													14	47					0	0	1	0	0
LRRC37A6P	387646	broad.mit.edu	37	10	27538753	27538753	+	RNA	SNP	G	G	T	rs112015560		TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr10:27538753G>T	ENST00000574842.1	+	0	255				LRRC37A6P_ENST00000284414.4_RNA																							GTAAGCCCCAGGTCCAAAGGT	0.502000													59	114					4.13886e-29	6.46031e-29	1	1	0
SRCAP	10847	broad.mit.edu	37	16	30748387	30748387	+	Silent	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr16:30748387C>T	ENST00000262518.4	+	34	7411	c.7026C>T	c.(7024-7026)gcC>gcT	p.A2342A	SRCAP_ENST00000344771.4_Silent_p.A2184A|SRCAP_ENST00000395059.2_Silent_p.A2280A	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2342	Glu-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)			TGGAAGCTGCCCGCAAAGACC	0.587000													32	63					0	0	1	0	0
IGHV2-5	28457	broad.mit.edu	37	14	106494553	106494553	+	RNA	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr14:106494553G>A	ENST00000390597.2	-	0	44																											GTCAGCAGCAGGAGCGTGGAG	0.542000													19	44					0	0	1	0	0
ATP13A2	23400	broad.mit.edu	37	1	17322923	17322923	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:17322923A>G	ENST00000452699.1	-	13	1438	c.1249T>C	c.(1249-1251)Tat>Cat	p.Y417H	ATP13A2_ENST00000326735.8_Missense_Mutation_p.Y422H|ATP13A2_ENST00000502860.1_Intron|ATP13A2_ENST00000341676.5_Missense_Mutation_p.Y417H|RP1-37C10.3_ENST00000446261.1_RNA	NM_001141973.1|NM_022089.2	NP_001135445.1|NP_071372.1	Q9NQ11	AT132_HUMAN	ATPase type 13A2	422					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)		CTGTGTTTATAGAACTTGAAG	0.627000													10	70					0	0	1	0	0
GBP6	163351	broad.mit.edu	37	1	89845994	89845994	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:89845994G>T	ENST00000370456.4	+	6	768	c.675G>T	c.(673-675)agG>agT	p.R225S	GBP6_ENST00000535065.1_Missense_Mutation_p.R95S	NM_198460.2	NP_940862.2	Q6ZN66	GBP6_HUMAN	guanylate binding protein family, member 6	225							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)		AGTGCATCAGGCGTTTCTTTC	0.408000													24	45					1.1804e-14	1.62431e-14	1	1	0
HSPA12A	259217	broad.mit.edu	37	10	118458211	118458211	+	Nonsense_Mutation	SNP	T	T	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr10:118458211T>A	ENST00000369209.3	-	5	585	c.481A>T	c.(481-483)Aag>Tag	p.K161*		NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	161							ATP binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		TTGACTTTCTTGCCATTTGCT	0.498000													46	106					0	0	1	0	0
AIFM1	9131	broad.mit.edu	37	X	129263560	129263560	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:129263560G>T	ENST00000287295.3	-	16	2044	c.1814C>A	c.(1813-1815)gCc>gAc	p.A605D	AIFM1_ENST00000440263.1_Missense_Mutation_p.A253D|AIFM1_ENST00000460436.2_Missense_Mutation_p.A266D|AIFM1_ENST00000346424.2_Missense_Mutation_p.A318D|AIFM1_ENST00000319908.3_Missense_Mutation_p.A601D|AIFM1_ENST00000535724.1_3'UTR	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 1	605					activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm	DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30						GAATAGTTTGGCTACTTCATT	0.468000													10	72					0.000442599	0.00047184	1	1	0
EHHADH	1962	broad.mit.edu	37	3	184910477	184910477	+	Missense_Mutation	SNP	C	C	A	rs151323332		TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr3:184910477C>A	ENST00000231887.3	-	7	1784	c.1709G>T	c.(1708-1710)cGa>cTa	p.R570L	EHHADH_ENST00000456310.1_Missense_Mutation_p.R474L	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	570	3-hydroxyacyl-CoA dehydrogenase.					peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		NADH(DB00157)	CTGGCCAAATCGTCCTAATTC	0.468000													20	28					1.15919e-05	1.2942e-05	1	1	0
COQ5	84274	broad.mit.edu	37	12	120966840	120966840	+	Silent	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr12:120966840C>A	ENST00000288532.6	-	1	145	c.105G>T	c.(103-105)ggG>ggT	p.G35G	COQ5_ENST00000445328.2_Silent_p.G35G	NM_032314.3	NP_115690.3	Q5HYK3	COQ5_HUMAN	coenzyme Q5 homolog, methyltransferase (S. cerevisiae)	35					ubiquinone biosynthetic process	mitochondrion	methyltransferase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(3)	20	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTAGTAGGTCCCCGGGCCAAG	0.647000													5	139					0.0293803	0.0299002	1	1	0
SULT1E1	6783	broad.mit.edu	37	4	70715239	70715239	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr4:70715239A>T	ENST00000226444.3	-	5	524	c.412T>A	c.(412-414)Ttt>Att	p.F138I		NM_005420.2	NP_005411.1	P49888	ST1E1_HUMAN	sulfotransferase family 1E, estrogen-preferring, member 1	138					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol|nuclear membrane	estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						AAATAATAAAAGGAAACAGCC	0.373000													17	38					0	0	1	0	0
GAL3ST3	89792	broad.mit.edu	37	11	65810809	65810809	+	Silent	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:65810809G>A	ENST00000312006.4	-	3	746	c.465C>T	c.(463-465)gcC>gcT	p.A155A	GAL3ST3_ENST00000527878.1_Silent_p.A155A	NM_033036.2	NP_149025.1	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3	155					monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			kidney(1)|lung(9)|ovary(2)|skin(2)	14						CGAACATGGCGGCCGGCTCGC	0.697000													4	46					0	0	1	0	0
NUP205	23165	broad.mit.edu	37	7	135322681	135322681	+	Silent	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr7:135322681C>T	ENST00000285968.6	+	37	5165	c.5139C>T	c.(5137-5139)cgC>cgT	p.R1713R		NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN	nucleoporin 205kDa	1713					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						CTTGTTAGCGCCAGTGCTTAG	0.373000													7	46					0	0	1	0	0
SCAMP5	192683	broad.mit.edu	37	15	75308946	75308946	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr15:75308946C>T	ENST00000361900.6	+	5	356	c.149C>T	c.(148-150)aCg>aTg	p.T50M	SCAMP5_ENST00000425597.3_Missense_Mutation_p.T50M|SCAMP5_ENST00000565923.1_3'UTR|SCAMP5_ENST00000545456.1_Intron|SCAMP5_ENST00000562212.1_Missense_Mutation_p.T50M	NM_001178111.1	NP_001171582.1	Q8TAC9	SCAM5_HUMAN	secretory carrier membrane protein 5	50					exocytosis|negative regulation of endocytosis|positive regulation of calcium ion-dependent exocytosis|positive regulation of cytokine secretion|protein transport|response to endoplasmic reticulum stress	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane|trans-Golgi network membrane	protein binding			large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	5						AACAGCGTCACGCTGGCCGTG	0.617000													13	94					0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8190877	8190877	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:8190877G>A	ENST00000600128.1	-	22	3044	c.2630C>T	c.(2629-2631)cCg>cTg	p.P877L	FBN3_ENST00000601739.1_Missense_Mutation_p.P877L|FBN3_ENST00000270509.2_Missense_Mutation_p.P877L			Q75N90	FBN3_HUMAN	fibrillin 3	877	EGF-like 11; 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						ACAGACTCCCGGGAAGGACTC	0.637000													10	45					0	0	1	0	0
TMTC1	83857	broad.mit.edu	37	12	29904644	29904644	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr12:29904644C>A	ENST00000256062.5	-	5	1042	c.569G>T	c.(568-570)aGc>aTc	p.S190I	TMTC1_ENST00000552618.1_Missense_Mutation_p.S298I|TMTC1_ENST00000381224.2_Missense_Mutation_p.S190I|TMTC1_ENST00000539277.1_Missense_Mutation_p.S298I|TMTC1_ENST00000551659.1_Missense_Mutation_p.S298I	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	298						integral to membrane	binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					GAATCCACTGCTCTTGGGTTC	0.582000													9	62					0.000442599	0.00047184	1	1	0
PCNT	5116	broad.mit.edu	37	21	47821627	47821627	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr21:47821627G>A	ENST00000359568.5	+	26	5061	c.4954G>A	c.(4954-4956)Gag>Aag	p.E1652K	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1652					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CCTGCGGCGCGAGAGCGAGGT	0.602000													10	83					0	0	1	0	0
MPPED2	744	broad.mit.edu	37	11	30516853	30516853	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:30516853C>A	ENST00000448418.2	-	4	886	c.526G>T	c.(526-528)Ggt>Tgt	p.G176C	MPPED2_ENST00000358117.5_Missense_Mutation_p.G176C	NM_001145399.1	NP_001138871.1	Q15777	MPPD2_HUMAN	metallophosphoesterase domain containing 2	176					nervous system development		hydrolase activity|metal ion binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(15)|skin(2)|upper_aerodigestive_tract(2)	33						CAAGGTGCACCGTATATCCTG	0.383000													17	26					1.99824e-07	2.35278e-07	1	1	0
LRRC52	440699	broad.mit.edu	37	1	165513699	165513699	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:165513699C>G	ENST00000294818.1	+	1	456	c.166C>G	c.(166-168)Cgg>Ggg	p.R56G	RP11-280O1.2_ENST00000438275.1_RNA|RP11-280O1.2_ENST00000421273.1_RNA|RP11-280O1.2_ENST00000416424.1_RNA	NM_001005214.3	NP_001005214.2	Q8N7C0	LRC52_HUMAN	leucine rich repeat containing 52	56						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)					CCTGAACACCCGGAGGCTGTT	0.473000													55	215					0	0	1	0	0
NR2E1	7101	broad.mit.edu	37	6	108489243	108489243	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr6:108489243G>T	ENST00000368983.3	+	1	17	c.13G>T	c.(13-15)Ggg>Tgg	p.G5W	NR2E1_ENST00000368986.4_Intron			Q9Y466	NR2E1_HUMAN	nuclear receptor subfamily 2, group E, member 1	0					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)		GTTTCGAGCTGGGGCAGAGGG	0.522000													3	5					2.56e-06	2.90591e-06	1	1	0
PCNXL3	399909	broad.mit.edu	37	11	65387244	65387244	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:65387244C>T	ENST00000355703.3	+	8	2388	c.1849C>T	c.(1849-1851)Cgg>Tgg	p.R617W		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	617						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						GGAAGCTCAGCGGGGCCGGGC	0.711000													3	16					0	0	1	0	0
PGR	5241	broad.mit.edu	37	11	100999563	100999563	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:100999563A>T	ENST00000325455.5	-	1	1692	c.239T>A	c.(238-240)cTg>cAg	p.L80Q	PGR_ENST00000263463.5_Missense_Mutation_p.L80Q|PGR_ENST00000534013.1_Intron	NM_000926.4|NM_001202474.1	NP_000917.3|NP_001189403.1	P06401	PRGR_HUMAN	progesterone receptor	80	Modulating, Pro-Rich.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	CACGTCCGACAGCGACTGCTG	0.607000													18	77					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9082741	9082741	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:9082741G>T	ENST00000397910.4	-	1	9277	c.9074C>A	c.(9073-9075)tCt>tAt	p.S3025Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3026	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						ACTAGAACCAGACCTTGCTGC	0.473000													34	74					8.53417e-09	1.0297e-08	1	1	0
DLG2	1740	broad.mit.edu	37	11	84028144	84028144	+	Silent	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:84028144G>A	ENST00000280241.8	-	1	44	c.45C>T	c.(43-45)tcC>tcT	p.S15S	DLG2_ENST00000398309.2_Intron|DLG2_ENST00000543673.1_Intron|DLG2_ENST00000376104.2_Intron|DLG2_ENST00000398301.2_Silent_p.S15S|DLG2_ENST00000524982.1_Intron|DLG2_ENST00000532653.1_Intron	NM_001206769.1	NP_001193698.1	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	0						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				CCATCCCATCGGACCCCCGGC	0.577000													30	208					0	0	1	0	0
ZNF365	22891	broad.mit.edu	37	10	64136037	64136037	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr10:64136037C>A	ENST00000395254.3	+	2	365	c.85C>A	c.(85-87)Ccg>Acg	p.P29T	ZNF365_ENST00000395255.3_Missense_Mutation_p.P29T|ZNF365_ENST00000466727.1_Intron|ZNF365_ENST00000410046.3_Missense_Mutation_p.P29T	NM_014951.2	NP_055766.2	Q70YC4	TALAN_HUMAN	zinc finger protein 365	0										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					ATTACGCTGCCCGAGGTGTGG	0.483000													18	68					4.63292e-17	6.61888e-17	1	1	0
PPFIA1	8500	broad.mit.edu	37	11	70208223	70208223	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:70208223C>T	ENST00000253925.7	+	20	2820	c.2605C>T	c.(2605-2607)Cgg>Tgg	p.R869W	AP000487.6_ENST00000528607.1_RNA|PPFIA1_ENST00000389547.3_Missense_Mutation_p.R869W	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	869					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity	p.R869W(1)|p.R869R(1)		breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			GGAGGAAGCCCGGAGACAAGG	0.478000													10	103					0	0	1	0	0
CCL2	6347	broad.mit.edu	37	17	32583785	32583785	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr17:32583785A>G	ENST00000225831.4	+	3	304	c.239A>G	c.(238-240)cAg>cGg	p.Q80R	CCL2_ENST00000580907.1_3'UTR	NM_002982.3	NP_002973.1	P13500	CCL2_HUMAN	chemokine (C-C motif) ligand 2	80					angiogenesis|anti-apoptosis|apoptotic cell clearance|astrocyte cell migration|cell adhesion|cellular response to interferon-gamma|cellular response to interleukin-1|cellular response to lipopolysaccharide|cellular response to tumor necrosis factor|G-protein signaling, coupled to cyclic nucleotide second messenger|helper T cell extravasation|humoral immune response|inflammatory response|JAK-STAT cascade|macrophage chemotaxis|monocyte chemotaxis|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of T cell activation|viral genome replication	extracellular space	CCR2 chemokine receptor binding|chemokine activity|protein kinase activity|signal transducer activity			kidney(1)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	6	Breast(3;0.00224)	Ovarian(249;0.0694)|Breast(31;0.151)|Lung NSC(157;0.153)		UCEC - Uterine corpus endometrioid carcinoma (308;0.000241)|BRCA - Breast invasive adenocarcinoma(366;0.0103)	Atorvastatin(DB01076)|Danazol(DB01406)|Mimosine(DB01055)|Simvastatin(DB00641)	GACCCCAAGCAGAAGTGGGTT	0.493000													16	27					0	0	1	0	0
SSX7	280658	broad.mit.edu	37	X	52681969	52681969	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:52681969T>A	ENST00000298181.5	-	3	293	c.135A>T	c.(133-135)aaA>aaT	p.K45N		NM_173358.2	NP_775494.1	Q7RTT5	SSX7_HUMAN	synovial sarcoma, X breakpoint 7	45	KRAB-related.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|skin(1)	16	Ovarian(276;0.236)					CATAGCTGATTTTCTCCAAGG	0.383000													20	72					0	0	1	0	0
KLF4	9314	broad.mit.edu	37	9	110248069	110248069	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr9:110248069G>A	ENST00000374672.4	-	5	1876	c.1403C>T	c.(1402-1404)tCg>tTg	p.S468L		NM_004235.4	NP_004226.3	O43474	KLF4_HUMAN	Kruppel-like factor 4 (gut)	502					fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter	nucleus	RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2)	16						GAGGTGGTCCGACCTGGAAAA	0.493000													11	170					0	0	1	0	0
PSG8	440533	broad.mit.edu	37	19	43262389	43262389	+	Silent	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:43262389G>T	ENST00000404209.4	-	3	570	c.474C>A	c.(472-474)ccC>ccA	p.P158P	PSG8_ENST00000401467.2_Intron|PSG8_ENST00000600709.1_5'UTR|PSG8_ENST00000306511.4_Silent_p.P158P|PSG8_ENST00000406636.3_Silent_p.P36P	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	158	Ig-like C2-type 1.					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)				TGGCCTCCCTGGGGTTTAATT	0.537000													90	397					9.10118e-52	1.48142e-51	1	1	0
ZNF716	441234	broad.mit.edu	37	7	57528666	57528666	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr7:57528666G>T	ENST00000420713.1	+	4	611	c.499G>T	c.(499-501)Ggt>Tgt	p.G167C		NM_001159279.1	NP_001152751.1			zinc finger protein 716											breast(1)|kidney(1)|lung(20)|ovary(2)	24						CAAAGTCTTTGGTAAATTTTC	0.348000													7	10					8.12818e-05	8.87178e-05	1	1	0
DAB1	1600	broad.mit.edu	37	1	57481070	57481070	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:57481070G>T	ENST00000371236.2	-	12	1193	c.930C>A	c.(928-930)ttC>ttA	p.F310L	DAB1_ENST00000414851.2_Missense_Mutation_p.F292L|DAB1_ENST00000371231.1_Missense_Mutation_p.F343L|DAB1_ENST00000371234.4_Missense_Mutation_p.F310L|DAB1_ENST00000439789.2_Missense_Mutation_p.F224L|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000420954.2_Missense_Mutation_p.F308L			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	343					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						GCTGACCCCAGAAGGACGGGA	0.607000													9	80					4.68919e-08	5.60056e-08	1	1	0
C1orf116	79098	broad.mit.edu	37	1	207195689	207195689	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:207195689G>T	ENST00000359470.5	-	4	1669	c.1420C>A	c.(1420-1422)Ctg>Atg	p.L474M	C1orf116_ENST00000461135.2_Missense_Mutation_p.L228M	NM_023938.5	NP_076427.2	Q9BW04	SARG_HUMAN	chromosome 1 open reading frame 116	474						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)					ATCTGTCTCAGGCCAGGGGTG	0.557000													17	33					2.48551e-13	3.3145e-13	1	1	0
KRT25	147183	broad.mit.edu	37	17	38907525	38907525	+	Silent	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr17:38907525G>A	ENST00000312150.4	-	4	783	c.723C>T	c.(721-723)aaC>aaT	p.N241N		NM_181534.3	NP_853512.1	Q7Z3Z0	K1C25_HUMAN	keratin 25	241	Linker 12.|Rod.					cytoplasm|intermediate filament	structural molecule activity			endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				CGGGGGCTGCGTTCATCTCCA	0.572000													24	43					0	0	1	0	0
CCDC129	223075	broad.mit.edu	37	7	31683098	31683098	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr7:31683098C>A	ENST00000319386.3	+	11	2663	c.1670C>A	c.(1669-1671)tCc>tAc	p.S557Y	CCDC129_ENST00000407970.3_Missense_Mutation_p.S705Y|CCDC129_ENST00000409210.1_Missense_Mutation_p.S613Y|CCDC129_ENST00000451887.2_Missense_Mutation_p.S731Y			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	705										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						ACTGGCAGCTCCAGGTCTGTA	0.537000													9	98					1.76689e-08	2.12046e-08	1	1	0
MMP11	4320	broad.mit.edu	37	22	24123392	24123392	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr22:24123392C>T	ENST00000215743.3	+	6	923	c.871C>T	c.(871-873)Cca>Tca	p.P291S		NM_005940.3	NP_005931.2	P24347	MMP11_HUMAN	matrix metallopeptidase 11 (stromelysin 3)	291					collagen catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	27		Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318)				AGACGCCCCGCCAGATGCCTG	0.647000													16	205					0	0	1	0	0
CILP2	148113	broad.mit.edu	37	19	19655451	19655451	+	Silent	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:19655451C>A	ENST00000586018.1	+	8	2217	c.2115C>A	c.(2113-2115)cgC>cgA	p.R705R	CILP2_ENST00000291495.4_Silent_p.R699R			Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	699						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						GCTTCCGGCGCGAGGGGTCCT	0.706000													4	10					0.00909568	0.00937143	1	1	0
LEFTY1	10637	broad.mit.edu	37	1	226075329	226075329	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:226075329G>T	ENST00000432920.2	-	7	999	c.832C>A	c.(832-834)Cgt>Agt	p.R278S	LEFTY1_ENST00000272134.5_Silent_p.S169S																							TCTCGTGGACGGACACCAGCC	0.726000													14	66					2.62699e-14	3.58633e-14	1	1	0
SMARCAD1	56916	broad.mit.edu	37	4	95129564	95129564	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr4:95129564G>T	ENST00000354268.4	+	2	92	c.19G>T	c.(19-21)Gac>Tac	p.D7Y	SMARCAD1_ENST00000457823.2_Missense_Mutation_p.D7Y			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	7					chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		TTTCAACCTGGACCGTTTTCG	0.463000													34	114					1.836e-18	2.65174e-18	1	1	0
FAM168A	23201	broad.mit.edu	37	11	73120643	73120643	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:73120643C>T	ENST00000064778.4	-	7	795	c.511G>A	c.(511-513)Gtc>Atc	p.V171I	RP11-809N8.4_ENST00000536855.1_RNA|FAM168A_ENST00000450446.2_Intron|RP11-809N8.4_ENST00000542598.1_RNA|FAM168A_ENST00000356467.4_Missense_Mutation_p.V162I			Q92567	F168A_HUMAN	family with sequence similarity 168, member A	171										endometrium(3)|kidney(1)|lung(1)	5						TTGGGCTGGACGACCGTGGTA	0.607000													18	115					0	0	1	0	0
DLC1	10395	broad.mit.edu	37	8	13356713	13356713	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr8:13356713C>A	ENST00000276297.4	-	2	1277	c.868G>T	c.(868-870)Gct>Tct	p.A290S	DLC1_ENST00000511869.1_Missense_Mutation_p.A290S|DLC1_ENST00000316609.5_Missense_Mutation_p.A290S	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	290					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						CCATTTTCAGCTGACATTCCA	0.438000													63	70					6.5469e-37	1.04443e-36	1	1	0
PNPLA3	80339	broad.mit.edu	37	22	44324767	44324767	+	Missense_Mutation	SNP	G	G	A	rs141106484	byFrequency	TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr22:44324767G>A	ENST00000216180.3	+	3	657	c.484G>A	c.(484-486)Gtg>Atg	p.V162M	PNPLA3_ENST00000478713.1_3'UTR|PNPLA3_ENST00000423180.2_Missense_Mutation_p.V158M	NM_025225.2	NP_079501.2	Q9NST1	PLPL3_HUMAN	patatin-like phospholipase domain containing 3	162	Patatin.				triglyceride biosynthetic process|triglyceride catabolic process	integral to membrane	diolein transacylation activity|mono-olein transacylation activity|phospholipase A2 activity|triglyceride lipase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|prostate(1)|skin(1)|stomach(2)	19		Ovarian(80;0.024)|all_neural(38;0.0416)				CTTCAGAGGCGTGGTAAGTCG	0.567000													52	82					0	0	1	0	0
FBXW10	10517	broad.mit.edu	37	17	18682537	18682537	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr17:18682537G>A	ENST00000308799.4	+	12	3331	c.3112G>A	c.(3112-3114)Ggc>Agc	p.G1038S	FBXW10_ENST00000301938.4_Missense_Mutation_p.G976S|FBXW10_ENST00000395665.4_Missense_Mutation_p.G1029S|FBXW10_ENST00000395667.1_Missense_Mutation_p.G1028S			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	1029										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						GAAGATCAAAGGCCTGCCTAT	0.458000													19	37					0	0	1	0	0
PIK3C3	5289	broad.mit.edu	37	18	39567840	39567840	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr18:39567840G>A	ENST00000262039.4	+	5	682	c.596G>A	c.(595-597)aGa>aAa	p.R199K	PIK3C3_ENST00000398870.3_Missense_Mutation_p.R136K	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	199					cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	midbody|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						TTGACATTTAGAGAAATAGAA	0.264000										TSP Lung(28;0.18)			6	58					0	0	1	0	0
TGM6	343641	broad.mit.edu	37	20	2375966	2375966	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr20:2375966G>T	ENST00000202625.2	+	3	369	c.308G>T	c.(307-309)aGc>aTc	p.S103I	TGM6_ENST00000477505.1_Intron|TGM6_ENST00000381423.1_Missense_Mutation_p.S103I	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	103					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)	AGTCTCGCCAGCCCTCCCAGT	0.587000													4	44					0.00024832	0.000267138	1	1	0
RUNDC1	146923	broad.mit.edu	37	17	41143703	41143703	+	Silent	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr17:41143703C>T	ENST00000361677.1	+	5	1824	c.1812C>T	c.(1810-1812)cgC>cgT	p.R604R		NM_173079.2	NP_775102.2	Q96C34	RUND1_HUMAN	RUN domain containing 1	604										breast(1)|large_intestine(2)|lung(4)|prostate(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		TGGCTGTGCGCCAGCTCAAAA	0.517000													8	84					0	0	1	0	0
ALYREF	10189	broad.mit.edu	37	17	79846182	79846182	+	Silent	SNP	T	T	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr17:79846182T>G	ENST00000331204.4	-	5	720	c.694A>C	c.(694-696)Agg>Cgg	p.R232R	ALYREF_ENST00000505490.2_Silent_p.R239R	NM_005782.3	NP_005773.3	Q86V81	THOC4_HUMAN	Aly/REF export factor	232					intronless viral mRNA export from host nucleus|mRNA 3'-end processing|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear speck|transcription export complex	nucleotide binding|protein binding|RNA binding										TTTGAATTCCTGCCGGCACCT	0.647000													9	32					0	0	1	0	0
TESK2	10420	broad.mit.edu	37	1	45821111	45821111	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:45821111G>T	ENST00000372086.3	-	5	804	c.404C>A	c.(403-405)tCc>tAc	p.S135Y	TESK2_ENST00000538496.1_Missense_Mutation_p.S52Y|TESK2_ENST00000486676.1_5'UTR|TESK2_ENST00000341771.6_Missense_Mutation_p.S135Y|TESK2_ENST00000372084.1_Missense_Mutation_p.S135Y	NM_007170.2	NP_009101.2	Q96S53	TESK2_HUMAN	testis-specific kinase 2	135	Protein kinase.				actin cytoskeleton organization|focal adhesion assembly|spermatogenesis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	32	Acute lymphoblastic leukemia(166;0.155)					CAGGTTCCCGGAGTTGATATA	0.453000													17	48					2.94398e-08	3.52555e-08	1	1	0
ATG4B	23192	broad.mit.edu	37	2	242610158	242610158	+	Silent	SNP	T	T	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr2:242610158T>C	ENST00000405546.3	+	11	1477	c.975T>C	c.(973-975)acT>acC	p.T325T	ATG4B_ENST00000402096.1_Silent_p.T251T|ATG4B_ENST00000474739.2_Silent_p.T311T|ATG4B_ENST00000404914.3_Silent_p.T325T|ATG4B_ENST00000396411.3_Silent_p.T251T			Q9Y4P1	ATG4B_HUMAN	autophagy related 4B, cysteine peptidase	325					autophagic vacuole assembly|protein transport|proteolysis	cytoplasm	cysteine-type peptidase activity|protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		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;2.44e-33)|all cancers(36;5.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.75e-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;0.0848)		TCTGTAAGACTGAAGATGACT	0.552000													3	6					0	0	1	0	0
VSIG1	340547	broad.mit.edu	37	X	107315991	107315991	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:107315991G>C	ENST00000415430.3	+	5	766	c.605G>C	c.(604-606)gGa>gCa	p.G202A	VSIG1_ENST00000217957.5_Missense_Mutation_p.G166A|VSIG1_ENST00000485533.1_3'UTR	NM_001170553.1	NP_001164024.1	Q86XK7	VSIG1_HUMAN	V-set and immunoglobulin domain containing 1	166	Ig-like C2-type 2.					integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						TCTGCGCTTGGAACACCTTCC	0.473000													47	88					0	0	1	0	0
SYNPO2L	79933	broad.mit.edu	37	10	75410668	75410668	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr10:75410668G>A	ENST00000372873.4	-	1	119	c.98C>T	c.(97-99)gCa>gTa	p.A33V	SYNPO2L_ENST00000372872.4_Intron|SYNPO2L_ENST00000394810.2_Intron	NM_024875.3	NP_079151.2	Q9H987	SYP2L_HUMAN	synaptopodin 2-like	257	PDZ.					cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					GGTAGTACCTGCATAGAACGA	0.512000													23	53					0	0	1	0	0
STT3A	3703	broad.mit.edu	37	11	125475596	125475596	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:125475596G>T	ENST00000392708.4	+	7	740	c.581G>T	c.(580-582)tGg>tTg	p.W194L	STT3A_ENST00000529196.1_Missense_Mutation_p.W194L|STT3A_ENST00000531491.1_Missense_Mutation_p.W102L	NM_001278503.1|NM_001278504.1|NM_152713.3	NP_001265432.1|NP_001265433.1|NP_689926.1	P46977	STT3A_HUMAN	STT3A, subunit of the oligosaccharyltransferase complex (catalytic)	194					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)		TCCATCTGTTGGGCAGCTAAG	0.383000													32	107					3.76114e-14	5.12841e-14	1	1	0
ATP6V1A	523	broad.mit.edu	37	3	113499941	113499941	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr3:113499941G>T	ENST00000273398.3	+	3	235	c.127G>T	c.(127-129)Gtg>Ttg	p.V43L	ATP6V1A_ENST00000538620.1_Missense_Mutation_p.V10L	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A	43					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GTATGAGCTGGTGAGAGTGGG	0.453000													29	26					2.2171e-23	3.36693e-23	1	1	0
NBAS	51594	broad.mit.edu	37	2	15432864	15432864	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr2:15432864C>A	ENST00000281513.5	-	41	4849	c.4824G>T	c.(4822-4824)atG>atT	p.M1608I	NBAS_ENST00000441750.1_Missense_Mutation_p.M1488I	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1608										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						GCCTGGTGACCATCTTGATTA	0.433000													17	28					2.35188e-11	3.04225e-11	1	1	0
HDGF	3068	broad.mit.edu	37	1	156713553	156713553	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:156713553C>A	ENST00000357325.5	-	5	921	c.607G>T	c.(607-609)Gag>Tag	p.E203*	HDGF_ENST00000368209.5_Nonsense_Mutation_p.E196*|HDGF_ENST00000537739.1_Nonsense_Mutation_p.E203*|HDGF_ENST00000368206.5_Nonsense_Mutation_p.E219*|HDGF_ENST00000465180.1_5'UTR|HDGF_ENST00000416666.2_Nonsense_Mutation_p.E171*	NM_004494.2	NP_004485.1	P51858	HDGF_HUMAN	hepatoma-derived growth factor	203	Glu-rich.				cell proliferation|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	DNA binding|growth factor activity|heparin binding|nucleotide binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9	all_hematologic(923;0.088)|Hepatocellular(266;0.158)	Breast(1374;0.198)		Colorectal(1306;0.018)		GAGCCGGGCTCAGAGGGGGTG	0.592000													5	29					0.000602214	0.000639568	1	1	0
GIGYF1	64599	broad.mit.edu	37	7	100282211	100282211	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr7:100282211C>A	ENST00000275732.5	-	13	2700	c.1491G>T	c.(1489-1491)gaG>gaT	p.E497D		NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	497	GYF.									central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					CCTGGAACCACTCTGCCATCT	0.632000													17	115					3.99206e-14	5.43007e-14	1	1	0
MTHFD1L	25902	broad.mit.edu	37	6	151277173	151277173	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr6:151277173G>T	ENST00000367321.3	+	17	2043	c.1769G>T	c.(1768-1770)gGg>gTg	p.G590V		NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	590	Formyltetrahydrofolate synthetase.				folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		ATAACCATCGGGCAGGGAAAC	0.483000													16	16					0.000422831	0.000451839	1	1	0
DUSP27	92235	broad.mit.edu	37	1	167096810	167096810	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:167096810C>G	ENST00000361200.2	+	6	2608	c.2442C>G	c.(2440-2442)agC>agG	p.S814R	DUSP27_ENST00000443333.1_Missense_Mutation_p.S814R|DUSP27_ENST00000271385.5_Missense_Mutation_p.S814R|DUSP27_ENST00000485151.1_Intron			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	814					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						GTTGCAGAAGCAAAGTGAGGG	0.557000													18	108					0	0	1	0	0
SERPINA7	6906	broad.mit.edu	37	X	105279110	105279110	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:105279110G>C	ENST00000327674.4	-	2	1224	c.889C>G	c.(889-891)Cag>Gag	p.Q297E	SERPINA7_ENST00000372563.1_Missense_Mutation_p.Q297E|SERPINA7_ENST00000487487.1_5'UTR			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	297					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)	TACCCCTTCTGTAGTAAGCGG	0.498000													57	234					0	0	1	0	0
DUSP12	11266	broad.mit.edu	37	1	161723052	161723052	+	Splice_Site	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:161723052G>A	ENST00000367943.4	+	5	893		c.e5+1		DUSP12_ENST00000484291.1_Splice_Site	NM_007240.1	NP_009171.1	Q9UNI6	DUS12_HUMAN	dual specificity phosphatase 12						positive regulation of glucokinase activity	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|lung(1)	5	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			GGATGGACAGGTGAGAACACA	0.348000													12	138					0	0	1	0	0
PI4KAP1	728233	broad.mit.edu	37	22	20394535	20394535	+	RNA	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr22:20394535C>T	ENST00000430523.3	-	0	660					NR_003563.1																						ACAGCCGACACGTTGGTGATC	0.498000													17	79					0	0	1	0	0
KEAP1	9817	broad.mit.edu	37	19	10597355	10597355	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:10597355C>A	ENST00000171111.5	-	6	2395	c.1848G>T	c.(1846-1848)caG>caT	p.Q616H	KEAP1_ENST00000393623.2_Missense_Mutation_p.Q616H	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	616					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			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)			GCTGGTCAATCTGCTTCCGGC	0.527000													70	176					1.74474e-33	2.76179e-33	1	1	0
BEND6	221336	broad.mit.edu	37	6	56880051	56880051	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr6:56880051C>T	ENST00000370746.3	+	4	688	c.419C>T	c.(418-420)tCg>tTg	p.S140L	BEND6_ENST00000370750.2_3'UTR|BEND6_ENST00000484701.1_3'UTR|BEND6_ENST00000545789.1_Missense_Mutation_p.S42L	NM_152731.2	NP_689944.2	Q5SZJ8	BEND6_HUMAN	BEN domain containing 6	140										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	17						AACAACTCCTCGCCAGATTCA	0.468000													24	164					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103400654	103400654	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:103400654G>T	ENST00000358392.2	-	45	3807	c.3490C>A	c.(3490-3492)Cca>Aca	p.P1164T	COL11A1_ENST00000512756.1_Missense_Mutation_p.P1036T|COL11A1_ENST00000370096.3_Missense_Mutation_p.P1152T|COL11A1_ENST00000353414.4_Missense_Mutation_p.P1113T	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1152	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)		TGAAGACCTGGGGGACCGGGA	0.433000													6	32					0.000274275	0.000293932	1	1	0
C11orf30	56946	broad.mit.edu	37	11	76239405	76239405	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:76239405A>G	ENST00000529032.1	+	13	2089	c.2089A>G	c.(2089-2091)Agg>Ggg	p.R697G	C11orf30_ENST00000525038.1_Missense_Mutation_p.R712G|C11orf30_ENST00000524767.1_Missense_Mutation_p.R712G|C11orf30_ENST00000533248.1_Missense_Mutation_p.R711G|C11orf30_ENST00000524490.1_Missense_Mutation_p.R613G|C11orf30_ENST00000334736.3_Missense_Mutation_p.R697G|C11orf30_ENST00000525919.1_Missense_Mutation_p.R698G|C11orf30_ENST00000343878.3_Missense_Mutation_p.R697G			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	697					chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						GCAAGCATCCAGGGTAGCAGA	0.413000													39	113					0	0	1	0	0
SPP1	6696	broad.mit.edu	37	4	88902736	88902736	+	Missense_Mutation	SNP	A	A	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr4:88902736A>C	ENST00000237623.7	+	5	432	c.284A>C	c.(283-285)gAt>gCt	p.D95A	SPP1_ENST00000395080.3_Missense_Mutation_p.D109A|SPP1_ENST00000360804.4_Missense_Mutation_p.D82A|SPP1_ENST00000509659.1_3'UTR	NM_000582.2	NP_000573.1	P10451	OSTP_HUMAN	secreted phosphoprotein 1	109					biomineral tissue development|cell adhesion|decidualization|embryo implantation|ossification|response to vitamin D	extracellular space	cytokine activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-05)		AACGACTCTGATGATGTAGAT	0.463000													34	226					0	0	1	0	0
CAD	790	broad.mit.edu	37	2	27466162	27466162	+	Splice_Site	SNP	T	T	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr2:27466162T>A	ENST00000264705.4	+	43	6737		c.e43+2		CAD_ENST00000403525.1_Splice_Site	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase						'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	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|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)	CGAGATAAGGTGGTGCAGCAT	0.562000													14	25					0	0	1	0	0
USP29	57663	broad.mit.edu	37	19	57642760	57642760	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:57642760G>T	ENST00000254181.4	+	4	3171	c.2717G>T	c.(2716-2718)gGg>gTg	p.G906V	USP29_ENST00000598197.1_Missense_Mutation_p.G906V	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	906					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)		ACACAGGCAGGGGTGATCCCT	0.478000													23	66					4.54149e-19	6.61894e-19	1	1	0
PCF11	51585	broad.mit.edu	37	11	82880442	82880442	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:82880442G>C	ENST00000298281.4	+	8	3517	c.3065G>C	c.(3064-3066)gGg>gCg	p.G1022A		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	1022	Gly-rich.				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						AGAATTGAAGGGCCTCTGGGT	0.507000													17	58					0	0	1	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33549431	33549431	+	Silent	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr5:33549431G>T	ENST00000504830.1	-	21	4518	c.4183C>A	c.(4183-4185)Cgg>Agg	p.R1395R	ADAMTS12_ENST00000352040.3_Silent_p.R1310R	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1395	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						CGGTGGTCCCGGCTGTCCACG	0.572000										HNSCC(64;0.19)			39	197					2.61675e-31	4.11886e-31	1	1	0
DDX60L	91351	broad.mit.edu	37	4	169282357	169282357	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr4:169282357C>A	ENST00000511577.1	-	37	5181	c.4934G>T	c.(4933-4935)cGt>cTt	p.R1645L	DDX60L_ENST00000260184.7_Missense_Mutation_p.R1645L			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	1645							ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		CTGTCCCATACGCATCCTAAA	0.294000													5	14					0.00307968	0.00321738	1	1	0
CELA3A	10136	broad.mit.edu	37	1	22336325	22336325	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:22336325C>A	ENST00000290122.3	+	7	789	c.770C>A	c.(769-771)tCc>tAc	p.S257Y		NM_005747.4	NP_005738.4			chymotrypsin-like elastase family, member 3A											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						ACTCGAGTCTCCGCCTTCATC	0.592000													19	63					1.01871e-10	1.29314e-10	1	1	0
IQSEC3	440073	broad.mit.edu	37	12	247854	247854	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr12:247854C>A	ENST00000538872.1	+	4	1443	c.1325C>A	c.(1324-1326)gCg>gAg	p.A442E	RP11-598F7.4_ENST00000505893.2_RNA|IQSEC3_ENST00000326261.4_Missense_Mutation_p.A442E|IQSEC3_ENST00000382841.2_Missense_Mutation_p.A139E			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	442					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)		GCCCTGCAggcggccgcgggg	0.771000													3	6					1	1	1	1	0
ACTN2	88	broad.mit.edu	37	1	236918378	236918378	+	Silent	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:236918378G>A	ENST00000366578.4	+	17	2200	c.2034G>A	c.(2032-2034)ctG>ctA	p.L678L	ACTN2_ENST00000542672.1_Silent_p.L678L|ACTN2_ENST00000546208.1_Silent_p.L172L	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	678					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP 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)			TGAACCAGCTGAAGCAGTATG	0.532000													59	180					0	0	1	0	0
CELSR1	9620	broad.mit.edu	37	22	46859750	46859750	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr22:46859750C>T	ENST00000262738.3	-	2	4036	c.4037G>A	c.(4036-4038)gGc>gAc	p.G1346D	CELSR1_ENST00000395964.1_Missense_Mutation_p.G1346D	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1346	EGF-like 1; calcium-binding.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GCAGCGCAGGCCGTTGATGGG	0.677000													4	13					0	0	1	0	0
GATA3	2625	broad.mit.edu	37	10	8106086	8106086	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr10:8106086G>T	ENST00000379328.3	+	4	1477	c.909G>T	c.(907-909)aaG>aaT	p.K303N	GATA3_ENST00000461472.1_Intron|GATA3_ENST00000346208.3_Missense_Mutation_p.K302N	NM_001002295.1|NM_002051.2	NP_001002295.1|NP_002042.1	P23771	GATA3_HUMAN	GATA binding protein 3	302					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 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 T cell differentiation|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|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|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|transcription coactivator activity|transcription factor binding|zinc ion binding			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						CCCTCATTAAGCCCAAGCGAA	0.567000			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""						22	74					2.39556e-15	3.32503e-15	1	1	0
DGKG	1608	broad.mit.edu	37	3	186038186	186038186	+	Silent	SNP	T	T	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr3:186038186T>A	ENST00000265022.3	-	2	602	c.63A>T	c.(61-63)tcA>tcT	p.S21S	DGKG_ENST00000382164.4_Silent_p.S21S|DGKG_ENST00000544847.1_Silent_p.S21S|DGKG_ENST00000344484.4_Silent_p.S21S	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	21					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	ACTCACATTCTGAATATTTCT	0.438000													25	40					0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70507783	70507783	+	Splice_Site	SNP	A	A	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:70507783A>G	ENST00000338508.4	-	22	1856	c.1856_splice	c.e22-1	p.S619_splice	SHANK2_ENST00000409161.1_Silent_p.S29S|SHANK2_ENST00000449833.2_Silent_p.S30S|SHANK2_ENST00000449116.2_Silent_p.S30S|SHANK2_ENST00000423696.2_Splice_Site_p.S239_splice|SHANK2_ENST00000409530.1_Silent_p.S29S|SHANK2_ENST00000357171.3_Silent_p.S30S			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	239					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain 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)			TAATGCAGTCACTGTAGAGAG	0.532000													5	250					0	0	1	0	0
USP29	57663	broad.mit.edu	37	19	57642761	57642761	+	Silent	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:57642761G>T	ENST00000254181.4	+	4	3172	c.2718G>T	c.(2716-2718)ggG>ggT	p.G906G	USP29_ENST00000598197.1_Silent_p.G906G	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	906					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)		CACAGGCAGGGGTGATCCCTC	0.483000													23	65					9.95505e-16	1.39383e-15	1	1	0
CPSF1	29894	broad.mit.edu	37	8	145624249	145624249	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr8:145624249G>A	ENST00000349769.3	-	17	1652	c.1558C>T	c.(1558-1560)Cgg>Tgg	p.R520W		NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	520					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	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;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			ACCTGGGGCCGGATGCTCTTC	0.637000													19	88					0	0	1	0	0
ODF2L	57489	broad.mit.edu	37	1	86818661	86818661	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:86818661C>A	ENST00000359242.3	-	17	2055	c.1774G>T	c.(1774-1776)Gaa>Taa	p.E592*	ODF2L_ENST00000394731.1_Nonsense_Mutation_p.E432*|ODF2L_ENST00000294678.2_Nonsense_Mutation_p.E576*|ODF2L_ENST00000370567.1_Nonsense_Mutation_p.E563*|ODF2L_ENST00000317336.7_Nonsense_Mutation_p.E592*|ODF2L_ENST00000370566.3_Nonsense_Mutation_p.E510*	NM_001007022.2	NP_001007023.2	Q9ULJ1	ODF2L_HUMAN	outer dense fiber of sperm tails 2-like	592						centrosome				endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	24				all cancers(265;0.0313)|Epithelial(280;0.0611)		TCTATTTCTTCAGCAACCTGT	0.269000													3	5					6.4e-05	6.99725e-05	1	1	0
ATRNL1	26033	broad.mit.edu	37	10	117045783	117045783	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr10:117045783C>A	ENST00000355044.3	+	15	2417	c.2291C>A	c.(2290-2292)tCc>tAc	p.S764Y		NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	764	C-type lectin.					integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		AGAGTCAATTCCAGTAGAGAA	0.328000													10	31					2.74318e-10	3.45284e-10	1	1	0
CACNA1E	777	broad.mit.edu	37	1	181754913	181754913	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:181754913C>T	ENST00000526775.1	+	42	5852	c.5687C>T	c.(5686-5688)gCc>gTc	p.A1896V	CACNA1E_ENST00000367573.2_Missense_Mutation_p.A1915V|CACNA1E_ENST00000367567.4_Missense_Mutation_p.A1522V|CACNA1E_ENST00000357570.5_Missense_Mutation_p.A1866V|CACNA1E_ENST00000367570.1_Missense_Mutation_p.A1915V|CACNA1E_ENST00000358338.5_Missense_Mutation_p.A1847V|CACNA1E_ENST00000360108.3_Missense_Mutation_p.A1896V	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1915					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						ATTGCTAATGCCAAAGCCCTG	0.512000													37	334					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11648132	11648132	+	Silent	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr17:11648132C>T	ENST00000262442.3	+	31	6198	c.6130C>T	c.(6130-6132)Cta>Tta	p.L2044L	DNAH9_ENST00000454412.2_Silent_p.L2044L	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2044	AAA 1 (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)		CGACTGGGGCCTACGGGCCAT	0.562000													12	39					0	0	1	0	0
SLC4A1	6521	broad.mit.edu	37	17	42335534	42335534	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr17:42335534G>T	ENST00000262418.6	-	11	1257	c.1102C>A	c.(1102-1104)Cca>Aca	p.P368T	AC003043.1_ENST00000597382.1_Intron	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1	368					bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	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)		GGGTCATCTGGGCCCCCATTT	0.582000													27	65					3.73988e-18	5.38764e-18	1	1	0
ROBO1	6091	broad.mit.edu	37	3	78766919	78766919	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr3:78766919C>G	ENST00000436010.2	-	4	1652	c.655G>C	c.(655-657)Gtc>Ctc	p.V219L	ROBO1_ENST00000464233.1_Missense_Mutation_p.V258L|ROBO1_ENST00000467549.1_Missense_Mutation_p.V219L|ROBO1_ENST00000495273.1_Missense_Mutation_p.V219L			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	258	Ig-like C2-type 2.				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TTACCTAAGACAGTCAGCTCG	0.378000													6	9					0	0	1	0	0
GLTSCR1L	23506	broad.mit.edu	37	6	42797495	42797495	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr6:42797495G>T	ENST00000314073.5	+	6	1600	c.1424G>T	c.(1423-1425)gGg>gTg	p.G475V	GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.G475V					GLTSCR1-like																		TTAGTGTCTGGGCAGACATTT	0.502000													37	78					9.8876e-21	1.46971e-20	1	1	0
SEMA3C	10512	broad.mit.edu	37	7	80458049	80458049	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr7:80458049G>C	ENST00000265361.3	-	3	677	c.116C>G	c.(115-117)aCc>aGc	p.T39S	SEMA3C_ENST00000419255.2_Missense_Mutation_p.T39S|SEMA3C_ENST00000544525.1_Missense_Mutation_p.T57S|SEMA3C_ENST00000536800.1_Intron	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	39	Sema.				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						AGAGGTCTTGGTTTCTCGAAG	0.353000													11	75					0	0	1	0	0
PTGER4	5734	broad.mit.edu	37	5	40681530	40681530	+	Silent	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr5:40681530G>A	ENST00000302472.3	+	2	1459	c.435G>A	c.(433-435)gcG>gcA	p.A145A	PTGER4_ENST00000514343.1_3'UTR	NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN	prostaglandin E receptor 4 (subtype EP4)	145					G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity			breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						CAGTCTATGCGTCCAACGTGC	0.582000											OREG0016588	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	299					0	0	1	0	0
FAM83H	286077	broad.mit.edu	37	8	144811424	144811424	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr8:144811424G>A	ENST00000388913.3	-	3	642	c.517C>T	c.(517-519)Cgt>Tgt	p.R173C		NM_198488.3	NP_940890.3	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	173					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GGGACCCGACGGGCCGCGGCC	0.627000													21	58					0	0	1	0	0
WDR81	124997	broad.mit.edu	37	17	1636085	1636085	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr17:1636085G>T	ENST00000409644.1	+	6	4449	c.4449G>T	c.(4447-4449)gaG>gaT	p.E1483D	RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000309182.5_Missense_Mutation_p.E432D|WDR81_ENST00000545662.1_Missense_Mutation_p.E114D|WDR81_ENST00000419248.1_Missense_Mutation_p.E256D|WDR81_ENST00000437219.2_Missense_Mutation_p.E280D|WDR81_ENST00000446363.1_Missense_Mutation_p.E122D	NM_001163809.1	NP_001157281.1	B3KXU1	B3KXU1_HUMAN	WD repeat domain 81	256										cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		TCACCCTGGAGATGGCATACA	0.627000													11	15					1.58986e-06	1.82314e-06	1	1	0
TP73-AS1	57212	broad.mit.edu	37	1	3662277	3662277	+	RNA	SNP	A	A	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:3662277A>G	ENST00000452079.1	-	0	1609				TP73-AS1_ENST00000418088.1_RNA|TP73-AS1_ENST00000544565.1_RNA|TP73-AS1_ENST00000423764.1_RNA	NR_033711.1																						CTGGTCCTCCACCACGTACAG	0.592000													4	22					0	0	1	0	0
IL13RA2	3598	broad.mit.edu	37	X	114251748	114251748	+	Missense_Mutation	SNP	C	C	T	rs148209653		TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:114251748C>T	ENST00000371936.1	-	3	334	c.85G>A	c.(85-87)Gag>Aag	p.E29K	IL13RA2_ENST00000243213.1_Missense_Mutation_p.E29K|IL13RA2_ENST00000468224.1_5'UTR			Q14627	I13R2_HUMAN	interleukin 13 receptor, alpha 2	29						extracellular space|integral to membrane|soluble fraction	cytokine receptor activity			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	23						CCTTTTATCTCGGTGTCTGAA	0.323000													23	65					0	0	1	0	0
FFAR3	2865	broad.mit.edu	37	19	35849881	35849881	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:35849881C>A	ENST00000327809.4	+	2	290	c.89C>A	c.(88-90)cCc>cAc	p.P30H	FFAR3_ENST00000594310.1_Missense_Mutation_p.P30H	NM_005304.3	NP_005295.1	O14843	FFAR3_HUMAN	free fatty acid receptor 3	30						integral to plasma membrane	G-protein coupled receptor activity|lipid binding			endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			GTGGGGCTCCCCCTCAACCTG	0.647000													14	177					2.48551e-13	3.3145e-13	1	1	0
RFWD2	64326	broad.mit.edu	37	1	175996759	175996759	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:175996759A>G	ENST00000367669.3	-	15	2192	c.1678T>C	c.(1678-1680)Tgt>Cgt	p.C560R	RFWD2_ENST00000308769.8_Missense_Mutation_p.C536R	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase	560					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						AATTTAACACAGCACACATTA	0.408000													16	67					0	0	1	0	0
SVOPL	136306	broad.mit.edu	37	7	138333799	138333799	+	Silent	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr7:138333799G>A	ENST00000421622.1	-	4	466	c.258C>T	c.(256-258)cgC>cgT	p.R86R	SVOPL_ENST00000288513.5_Silent_p.R54R|SVOPL_ENST00000419765.3_Silent_p.R206R|SVOPL_ENST00000436657.1_Silent_p.R54R			Q8N434	SVOPL_HUMAN	SVOP-like	206						integral to membrane	transmembrane transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						TGGAGGCGACGCGAATGAGCC	0.612000													13	61					0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127692978	127692978	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr5:127692978C>A	ENST00000508053.1	-	26	3638	c.2664G>T	c.(2662-2664)ttG>ttT	p.L888F	FBN2_ENST00000262464.4_Missense_Mutation_p.L888F|FBN2_ENST00000508989.1_Missense_Mutation_p.L855F			P35556	FBN2_HUMAN	fibrillin 2	888	EGF-like 13; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CAATACAGATCAATCCTGTGG	0.423000													9	21					0.00829132	0.008594	1	1	0
CUX2	23316	broad.mit.edu	37	12	111779638	111779638	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr12:111779638C>T	ENST00000261726.6	+	21	3594	c.3440C>T	c.(3439-3441)cCg>cTg	p.P1147L		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1147						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						AGTGAGTCCCCGGCCACCCGC	0.667000													32	71					0	0	1	0	0
INA	9118	broad.mit.edu	37	10	105048117	105048117	+	Splice_Site	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr10:105048117G>A	ENST00000369849.4	+	3	1240	c.1190_splice	c.e3-1	p.R397_splice		NM_032727.3	NP_116116.1	Q16352	AINX_HUMAN	internexin neuronal intermediate filament protein, alpha	397	Coil 2.|Rod.				cell differentiation|nervous system development	neurofilament	structural constituent of cytoskeleton			breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)	13				Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		GAATTTACAGGAAACTGCTGG	0.458000													16	98					0	0	1	0	0
SLC12A6	9990	broad.mit.edu	37	15	34528220	34528220	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr15:34528220G>A	ENST00000354181.3	-	24	3715	c.3223C>T	c.(3223-3225)Cgt>Tgt	p.R1075C	SLC12A6_ENST00000558589.1_Missense_Mutation_p.R1066C|SLC12A6_ENST00000560164.1_Missense_Mutation_p.R887C|SLC12A6_ENST00000558667.1_Missense_Mutation_p.R1075C|SLC12A6_ENST00000458406.2_Missense_Mutation_p.R1016C|SLC12A6_ENST00000397702.2_Missense_Mutation_p.R1016C|SLC12A6_ENST00000397707.2_Missense_Mutation_p.R1060C|SLC12A6_ENST00000451844.2_Missense_Mutation_p.R887C|SLC12A6_ENST00000290209.5_Missense_Mutation_p.R1024C|SLC12A6_ENST00000560611.1_Missense_Mutation_p.R1075C			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	1075					angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	ACTTACGGACGCATGTTAAGC	0.453000													9	72					0	0	1	0	0
KCNA5	3741	broad.mit.edu	37	12	5154517	5154517	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr12:5154517A>T	ENST00000252321.3	+	1	1433	c.1204A>T	c.(1204-1206)Atc>Ttc	p.I402F		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	402						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			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						CCTCCGAGTCATCCGCCTGGT	0.657000													14	43					0	0	1	0	0
GRM6	2916	broad.mit.edu	37	5	178413314	178413314	+	Silent	SNP	G	G	T	rs149210562	byFrequency	TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr5:178413314G>T	ENST00000231188.5	-	8	2119	c.1941C>A	c.(1939-1941)gcC>gcA	p.A647A	GRM6_ENST00000517717.1_Silent_p.A647A|RP11-281O15.4_ENST00000519491.1_RNA	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	647					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|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)	all cancers(165;0.245)		CACAGACCGCGGCCCCAGGCT	0.647000													9	11					1.76689e-08	2.12046e-08	1	1	0
SOCS5	9655	broad.mit.edu	37	2	46986015	46986015	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr2:46986015C>T	ENST00000306503.5	+	2	518	c.346C>T	c.(346-348)Cga>Tga	p.R116*	SOCS5_ENST00000394861.2_Nonsense_Mutation_p.R116*	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	116					cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|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)			TTCCTACTCTCGACATGCTCC	0.418000													21	46					0	0	1	0	0
GABRD	2563	broad.mit.edu	37	1	1961533	1961533	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:1961533T>A	ENST00000378585.4	+	9	1254	c.1171T>A	c.(1171-1173)Tac>Aac	p.Y391N		NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	391						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	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;2.7e-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;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		GATGGGCTCCTACAGGTCGGT	0.706000													14	42					0	0	1	0	0
SDHA	6389	broad.mit.edu	37	5	251128	251128	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr5:251128G>A	ENST00000264932.6	+	12	1688	c.1573G>A	c.(1573-1575)Gtg>Atg	p.V525M	SDHA_ENST00000504309.1_Intron|SDHA_ENST00000510361.1_Missense_Mutation_p.V477M	NM_004168.2	NP_004159.2	P31040	DHSA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	525					nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	TCATGCTGCCGTGTTCCGTGT	0.448000									Familial Paragangliomas				24	334					0	0	1	0	0
SHANK1	50944	broad.mit.edu	37	19	51220084	51220084	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:51220084G>T	ENST00000293441.1	-	1	111	c.93C>A	c.(91-93)gaC>gaA	p.D31E	SHANK1_ENST00000359082.3_Missense_Mutation_p.D31E|SHANK1_ENST00000391814.1_Missense_Mutation_p.D31E	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	31					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GACCTGGCCCGTCTGGGGAGC	0.711000													4	16					0.014758	0.0151151	1	1	0
BBOX1	8424	broad.mit.edu	37	11	27114810	27114810	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:27114810C>A	ENST00000263182.3	+	5	798	c.430C>A	c.(430-432)Ctc>Atc	p.L144I	RP11-1L12.3_ENST00000526061.1_RNA|BBOX1_ENST00000529202.1_Missense_Mutation_p.L144I|BBOX1_ENST00000525090.1_Missense_Mutation_p.L144I|BBOX1_ENST00000527505.1_Intron|RP11-1L12.3_ENST00000530430.1_RNA|RP11-1L12.3_ENST00000525302.1_RNA|BBOX1_ENST00000528583.1_Missense_Mutation_p.L144I	NM_003986.2	NP_003977.1	O75936	BODG_HUMAN	butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1	144					carnitine biosynthetic process	actin cytoskeleton|cytosol|intracellular membrane-bounded organelle	gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	23					Succinic acid(DB00139)|Vitamin C(DB00126)	GCTCTCCACCCTCAAGAAAGT	0.438000													18	60					2.48551e-13	3.3145e-13	1	1	0
TRAP1	10131	broad.mit.edu	37	16	3740936	3740936	+	Nonsense_Mutation	SNP	G	G	A	rs141984778		TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr16:3740936G>A	ENST00000246957.5	-	2	227	c.139C>T	c.(139-141)Cga>Tga	p.R47*	TRAP1_ENST00000538171.1_Intron	NM_016292.2	NP_057376.2	Q12931	TRAP1_HUMAN	TNF receptor-associated protein 1	47					cellular response to oxidative stress|protein folding	mitochondrion	ATP binding|tumor necrosis factor receptor binding|unfolded protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(90;0.0261)				GCTGGGTTTCGCCTGGGGCCC	0.537000											OREG0023572	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	61					0	0	1	0	0
RHOB	388	broad.mit.edu	37	2	20647703	20647703	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr2:20647703C>A	ENST00000272233.4	+	1	869	c.477C>A	c.(475-477)tgC>tgA	p.C159*		NM_004040.2	NP_004031.1	P62745	RHOB_HUMAN	ras homolog family member B	159					angiogenesis|axon guidance|cell adhesion|endosome to lysosome transport|negative regulation of cell cycle|platelet activation|positive regulation of angiogenesis|protein transport|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|transformed cell apoptosis	cytosol|late endosome membrane|nucleus|plasma membrane	GTP binding|GTPase activity|protein binding			breast(1)|kidney(1)|lung(2)|ovary(1)|urinary_tract(2)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)	all_epithelial(98;4.19e-09)|Lung NSC(108;0.00452)|Ovarian(717;0.0164)		OV - Ovarian serous cystadenocarcinoma(76;1.14e-22)|Epithelial(75;7.84e-19)		ACCTCGAGTGCTCTGCCAAGA	0.662000													6	206					0.00116845	0.00122986	1	1	0
SLC22A23	63027	broad.mit.edu	37	6	3284173	3284173	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr6:3284173G>A	ENST00000436008.2	-	10	2102	c.1640C>T	c.(1639-1641)gCg>gTg	p.A547V	PSMG4_ENST00000451246.2_Intron|SLC22A23_ENST00000406686.3_Missense_Mutation_p.A539V|SLC22A23_ENST00000490273.1_Missense_Mutation_p.A258V|SLC22A23_ENST00000380302.4_Missense_Mutation_p.A258V			A1A5C7	S22AN_HUMAN	solute carrier family 22, member 23	539					ion transport	integral to membrane	transmembrane transporter activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(93;0.0493)	all_hematologic(90;0.0905)				GATGGAAAACGCGATGGAAAA	0.587000													7	24					0	0	1	0	0
ANKRD44	91526	broad.mit.edu	37	2	197990610	197990610	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr2:197990610C>A	ENST00000328737.2	-	5	414	c.338G>T	c.(337-339)cGa>cTa	p.R113L	ANKRD44_ENST00000409919.1_Missense_Mutation_p.R138L|ANKRD44_ENST00000337207.5_Missense_Mutation_p.R113L|ANKRD44_ENST00000539527.1_Missense_Mutation_p.R66L|ANKRD44_ENST00000409153.1_Missense_Mutation_p.R138L|ANKRD44_ENST00000450567.1_Missense_Mutation_p.R113L|ANKRD44_ENST00000282272.8_Missense_Mutation_p.R130L			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	138							protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GCGCCCCCCTCGGTCGGAGAC	0.552000													36	78					3.09479e-21	4.61543e-21	1	1	0
GRB7	2886	broad.mit.edu	37	17	37902407	37902407	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr17:37902407C>T	ENST00000309185.3	+	13	1566	c.1316C>T	c.(1315-1317)tCc>tTc	p.S439F	GRB7_ENST00000445327.2_Silent_p.V491V|GRB7_ENST00000394211.3_Silent_p.V468V|GRB7_ENST00000394209.2_Silent_p.V468V|GRB7_ENST00000309156.4_Silent_p.V468V|GRB7_ENST00000394204.1_Missense_Mutation_p.S439F			Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	0	SH2.				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	phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity			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)			AGGGCTTTGTCCTCTCTTTGT	0.592000													61	124					0	0	1	0	0
KCNG1	3755	broad.mit.edu	37	20	49621194	49621194	+	Silent	SNP	G	G	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr20:49621194G>C	ENST00000371571.4	-	3	1209	c.924C>G	c.(922-924)gcC>gcG	p.A308A	RP5-955M13.4_ENST00000424566.1_RNA|RP5-955M13.3_ENST00000506387.1_RNA	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	308						voltage-gated potassium channel complex	voltage-gated potassium channel activity			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						AGGGCAGGATGGCCACCAGGT	0.687000													3	8					0	0	1	0	0
PARD3B	117583	broad.mit.edu	37	2	206364664	206364664	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr2:206364664G>A	ENST00000406610.2	+	21	3296	c.3089G>A	c.(3088-3090)cGg>cAg	p.R1030Q	PARD3B_ENST00000488622.1_3'UTR|PARD3B_ENST00000349953.3_Missense_Mutation_p.R929Q|PARD3B_ENST00000358768.2_Missense_Mutation_p.R968Q|PARD3B_ENST00000351153.1_Missense_Mutation_p.R961Q	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	1030					cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		CAGAAGTTGCGGAAAGAGTAT	0.463000													22	124					0	0	1	0	0
TTLL11	158135	broad.mit.edu	37	9	124801635	124801635	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr9:124801635G>A	ENST00000321582.5	-	2	932	c.745C>T	c.(745-747)Cgg>Tgg	p.R249W	TTLL11_ENST00000373776.3_Missense_Mutation_p.R249W|TTLL11_ENST00000474723.1_5'UTR	NM_001139442.1	NP_001132914.1	Q8NHH1	TTL11_HUMAN	tubulin tyrosine ligase-like family, member 11	249	TTL.				protein modification process	cilium|microtubule basal body	tubulin-tyrosine ligase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1)	18						GGCAAGCGCCGGCCAAATGGG	0.433000													16	44					0	0	1	0	0
WNK4	65266	broad.mit.edu	37	17	40932968	40932968	+	Silent	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr17:40932968C>T	ENST00000246914.5	+	1	273	c.252C>T	c.(250-252)ccC>ccT	p.P84P		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	84					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)		CGGACCCCCCCGATCCTCCGG	0.711000													10	60					0	0	1	0	0
BPNT1	10380	broad.mit.edu	37	1	220253150	220253150	+	Silent	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:220253150G>T	ENST00000469520.2	-	3	488	c.39C>A	c.(37-39)gcC>gcA	p.A13A	BPNT1_ENST00000354807.3_Silent_p.A13A|BPNT1_ENST00000482136.1_Intron|BPNT1_ENST00000414869.2_Silent_p.A13A|BPNT1_ENST00000544404.1_Intron|BPNT1_ENST00000322067.7_Silent_p.A13A			O95861	BPNT1_HUMAN	3'(2'), 5'-bisphosphate nucleotidase 1	13					3'-phosphoadenosine 5'-phosphosulfate metabolic process|nervous system development|xenobiotic metabolic process	cytosol	3'(2'),5'-bisphosphate nucleotidase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)|skin(1)	14				GBM - Glioblastoma multiforme(131;0.0558)		AATATGCGGAGGCTACCAACC	0.418000													10	84					6.40141e-05	6.99725e-05	1	1	0
SLC7A13	157724	broad.mit.edu	37	8	87242402	87242402	+	Silent	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr8:87242402G>T	ENST00000297524.3	-	1	208	c.105C>A	c.(103-105)ccC>ccA	p.P35P	SLC7A13_ENST00000520624.1_Intron|SLC7A13_ENST00000419776.2_Silent_p.P35P	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	35						integral to membrane	amino acid transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						ACACACCTTTGGGGGACACAA	0.468000													26	45					3.28513e-13	4.36008e-13	1	1	0
ZNF536	9745	broad.mit.edu	37	19	31039221	31039221	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:31039221G>T	ENST00000355537.3	+	4	2842	c.2695G>T	c.(2695-2697)Gag>Tag	p.E899*		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	899					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)					CCACTTCTCTGAGATCGGAAG	0.512000													52	126					3.10996e-30	4.87126e-30	1	1	0
TINAGL1	64129	broad.mit.edu	37	1	32049135	32049135	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:32049135A>G	ENST00000271064.7	+	5	617	c.541A>G	c.(541-543)Atc>Gtc	p.I181V	TINAGL1_ENST00000457433.2_Missense_Mutation_p.I150V|TINAGL1_ENST00000481165.1_3'UTR|TINAGL1_ENST00000537531.1_3'UTR	NM_001204415.1|NM_022164.2	NP_001191344.1|NP_071447.1	Q9GZM7	TINAL_HUMAN	tubulointerstitial nephritis antigen-like 1	181					endosome transport|immune response|proteolysis	extracellular region	cysteine-type endopeptidase activity|extracellular matrix structural constituent|polysaccharide binding|scavenger receptor activity			breast(2)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145)		CCTGGGCACCATCCGCCCATC	0.577000													6	29					0	0	1	0	0
ROR2	4920	broad.mit.edu	37	9	94499774	94499774	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr9:94499774C>A	ENST00000375708.3	-	5	719	c.521G>T	c.(520-522)tGc>tTc	p.C174F	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Missense_Mutation_p.C34F	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	174	FZ.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GTAAGGCTGGCAGAACCCATC	0.512000													39	67					1.57019e-19	2.30494e-19	1	1	0
LRRC15	131578	broad.mit.edu	37	3	194080796	194080796	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr3:194080796C>T	ENST00000347624.3	-	2	1062	c.977G>A	c.(976-978)cGc>cAc	p.R326H	LRRC15_ENST00000428839.1_Missense_Mutation_p.R332H|LRRC15_ENST00000439944.2_Missense_Mutation_p.R332H	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	326						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)		GATCTGATTGCGGCTAAGAAT	0.577000													10	49					0	0	1	0	0
CAPSL	133690	broad.mit.edu	37	5	35921166	35921166	+	Silent	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr5:35921166G>T	ENST00000397367.2	-	2	183	c.57C>A	c.(55-57)ctC>ctA	p.L19L	CAPSL_ENST00000397366.1_Silent_p.L19L|CAPSL_ENST00000514524.1_Silent_p.L19L	NM_144647.3	NP_653248.3	Q8WWF8	CAPSL_HUMAN	calcyphosine-like	19						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)			TGGCCGTGGTGAGCTTTTTCT	0.602000													38	101					3.62531e-18	5.22594e-18	1	1	0
NLRP13	126204	broad.mit.edu	37	19	56423477	56423477	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:56423477A>G	ENST00000588751.1	-	5	1730	c.1706T>C	c.(1705-1707)tTa>tCa	p.L569S	NLRP13_ENST00000342929.3_Missense_Mutation_p.L569S			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	569							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)		GTGTTGCAGTAACATCTTCAT	0.428000													40	99					0	0	1	0	0
IRF2BP2	359948	broad.mit.edu	37	1	234744255	234744255	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:234744255G>A	ENST00000366609.3	-	1	1016	c.986C>T	c.(985-987)cCg>cTg	p.P329L	IRF2BP2_ENST00000366610.3_Missense_Mutation_p.P329L|RP4-781K5.2_ENST00000436039.1_RNA	NM_182972.2	NP_892017.2	Q7Z5L9	I2BP2_HUMAN	interferon regulatory factor 2 binding protein 2	329					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11	Ovarian(103;0.0303)	all_cancers(173;0.0236)|Prostate(94;0.0115)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05)			AGTCAGGGCCGGCTCCTTCTT	0.642000													33	14					0	0	1	0	0
SERPINB7	8710	broad.mit.edu	37	18	61471805	61471805	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr18:61471805C>A	ENST00000398019.2	+	8	1404	c.1079C>A	c.(1078-1080)cCa>cAa	p.P360Q	SERPINB7_ENST00000540675.1_Missense_Mutation_p.P343Q|SERPINB7_ENST00000336429.2_Missense_Mutation_p.P360Q|SERPINB7_ENST00000546027.1_Missense_Mutation_p.P360Q	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	360					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				GCTGACCACCCATTCCTATTT	0.453000													21	33					7.87624e-14	1.06617e-13	1	1	0
RASA1	5921	broad.mit.edu	37	5	86685290	86685290	+	Silent	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr5:86685290C>T	ENST00000456692.2	+	24	2590	c.2475C>T	c.(2473-2475)tgC>tgT	p.C825C	RASA1_ENST00000274376.6_Silent_p.C1002C|RASA1_ENST00000512763.1_Silent_p.C835C|RASA1_ENST00000506290.1_Silent_p.C836C	NM_022650.2	NP_072179.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	1002	Ras-GAP.				cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		ATGAGATTTGCGTGGCTCATT	0.448000													8	118					0	0	1	0	0
ERCC6	2074	broad.mit.edu	37	10	50678401	50678401	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr10:50678401G>A	ENST00000355832.5	-	18	3683	c.3605C>T	c.(3604-3606)cCa>cTa	p.P1202L	ERCC6_ENST00000542458.1_Missense_Mutation_p.P572L|RP11-123B3.2_ENST00000423283.1_RNA	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6	1202					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|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus 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						CTTTTGCTTTGGTCTCAGATG	0.403000								Direct reversal of damage;Nucleotide excision repair (NER)					76	214					0	0	1	0	0
PRKCG	5582	broad.mit.edu	37	19	54406349	54406349	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:54406349G>A	ENST00000263431.3	+	15	1880	c.1598G>A	c.(1597-1599)gGg>gAg	p.G533E	PRKCG_ENST00000540413.1_Missense_Mutation_p.G533E|PRKCG_ENST00000542049.1_Missense_Mutation_p.G420E	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	533	Protein kinase.				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	p.G533V(1)		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)		CAGCCCTATGGGAAGTCTGTC	0.547000													109	219					0	0	1	0	0
F2RL2	2151	broad.mit.edu	37	5	75913955	75913955	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr5:75913955G>T	ENST00000296641.4	-	2	780	c.577C>A	c.(577-579)Ctg>Atg	p.L193M	IQGAP2_ENST00000274364.6_Intron|IQGAP2_ENST00000396234.3_Intron|IQGAP2_ENST00000502745.1_Intron|IQGAP2_ENST00000379730.3_Intron|F2RL2_ENST00000504899.1_Missense_Mutation_p.L171M	NM_004101.3	NP_004092.1	O00254	PAR3_HUMAN	coagulation factor II (thrombin) receptor-like 2	193					platelet activation	extracellular region|integral to plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|thrombin receptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(3)	32		all_lung(232;0.000462)|Lung NSC(167;0.00124)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)		ACGATGGCCAGGTAGCGGTTG	0.532000													21	27					1.96292e-10	2.47211e-10	1	1	0
PSG1	5669	broad.mit.edu	37	19	43376148	43376148	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:43376148C>A	ENST00000244296.2	-	3	617	c.480G>T	c.(478-480)gaG>gaT	p.E160D	PSG1_ENST00000595356.1_Missense_Mutation_p.E160D|PSG1_ENST00000436291.2_Missense_Mutation_p.E160D|PSG1_ENST00000595124.1_Intron|PSG1_ENST00000403380.3_Intron|PSG1_ENST00000312439.6_Missense_Mutation_p.E160D	NM_006905.2	NP_008836.2			pregnancy specific beta-1-glycoprotein 1											breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				CCTCCATGGTCTCCCTGGGAT	0.537000													72	178					3.28615e-30	5.14364e-30	1	1	0
DSG4	147409	broad.mit.edu	37	18	28993184	28993184	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr18:28993184T>A	ENST00000359747.4	+	15	2835	c.2806T>A	c.(2806-2808)Tgt>Agt	p.C936S	DSG4_ENST00000308128.4_Missense_Mutation_p.C917S|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	917					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TGCTGATCCATGTGTGCAACC	0.433000													88	76					0	0	1	0	0
PRKCQ	5588	broad.mit.edu	37	10	6528031	6528031	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr10:6528031G>A	ENST00000263125.5	-	9	965	c.866C>T	c.(865-867)gCt>gTt	p.A289V	PRKCQ_ENST00000397176.2_Missense_Mutation_p.A289V|PRKCQ_ENST00000539722.1_Missense_Mutation_p.A164V	NM_006257.3	NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	289					axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	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						CAGCGCTTCAGCCATTAGCTT	0.527000													5	56					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132547013	132547013	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr12:132547013A>T	ENST00000333577.4	+	48	8318	c.8209A>T	c.(8209-8211)Aca>Tca	p.T2737S	EP400_ENST00000389562.2_Missense_Mutation_p.T2700S|EP400_ENST00000389561.2_Missense_Mutation_p.T2701S|EP400_ENST00000330386.6_Missense_Mutation_p.T2620S|EP400_ENST00000332482.4_Missense_Mutation_p.T2664S			Q96L91	EP400_HUMAN	E1A binding protein p400	2737	Interaction with ZNF42 (By similarity).				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CTTCATAGCCACAGGAGTTCA	0.552000													25	54					0	0	1	0	0
TMEM79	84283	broad.mit.edu	37	1	156261411	156261411	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:156261411G>T	ENST00000357501.2	+	4	647	c.491G>T	c.(490-492)gGa>gTa	p.G164V	TMEM79_ENST00000295694.5_3'UTR|C1orf85_ENST00000472870.1_Intron|TMEM79_ENST00000495881.1_3'UTR|TMEM79_ENST00000405535.2_3'UTR			Q9BSE2	TMM79_HUMAN	transmembrane protein 79	0						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|urinary_tract(1)	21	Hepatocellular(266;0.158)					CTCGCCCTCGGAGTAGGGGGT	0.697000													9	50					5.16669e-11	6.62222e-11	1	1	0
RTTN	25914	broad.mit.edu	37	18	67759919	67759919	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr18:67759919C>A	ENST00000255674.6	-	29	4311	c.4025G>T	c.(4024-4026)gGg>gTg	p.G1342V	RTTN_ENST00000437017.1_Missense_Mutation_p.G1342V|RTTN_ENST00000454359.1_3'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	1342							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)				CACCAAGCTCCCAGCCTGGGC	0.453000													38	47					1.96642e-18	2.83827e-18	1	1	0
ZNF436	80818	broad.mit.edu	37	1	23689527	23689527	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:23689527G>T	ENST00000314011.4	-	4	484	c.348C>A	c.(346-348)agC>agA	p.S116R	ZNF436_ENST00000374608.3_Missense_Mutation_p.S116R|ZNF436_ENST00000374609.1_Missense_Mutation_p.S116R	NM_001077195.1	NP_001070663.1	Q9C0F3	ZN436_HUMAN	zinc finger protein 436	116					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		GGAGAGGATAGCTTACCCACT	0.453000													42	111					2.56662e-36	4.09163e-36	1	1	0
CSMD1	64478	broad.mit.edu	37	8	2832042	2832042	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr8:2832042G>T	ENST00000602557.1	-	57	9229	c.8674C>A	c.(8674-8676)Ctc>Atc	p.L2892I	CSMD1_ENST00000602723.1_Missense_Mutation_p.L2834I|CSMD1_ENST00000537824.1_Missense_Mutation_p.L2891I|CSMD1_ENST00000542608.1_Missense_Mutation_p.L2833I|CSMD1_ENST00000520002.1_Missense_Mutation_p.L2892I|CSMD1_ENST00000400186.3_Missense_Mutation_p.L2834I			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2892	Sushi 21.					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)		TTGCCTATGAGGCTCTCGCTC	0.602000													11	10					1.61879e-10	2.04676e-10	1	1	0
KAT6B	23522	broad.mit.edu	37	10	76789343	76789343	+	Silent	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr10:76789343G>T	ENST00000287239.4	+	18	5250	c.4761G>T	c.(4759-4761)acG>acT	p.T1587T	KAT6B_ENST00000372725.1_Silent_p.T1295T|KAT6B_ENST00000372711.1_Silent_p.T1404T|KAT6B_ENST00000372724.1_Silent_p.T1295T|KAT6B_ENST00000372714.1_Silent_p.T1295T	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN	K(lysine) acetyltransferase 6B	1587	Interaction with RUNX1 and RUNX2.				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										TTGCCACCACGCTCGACGATT	0.557000													24	63					1.64293e-13	2.20269e-13	1	1	0
ADAMTS4	9507	broad.mit.edu	37	1	161166039	161166039	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:161166039C>G	ENST00000367996.4	-	3	1440	c.1012G>C	c.(1012-1014)Gtc>Ctc	p.V338L	ADAMTS4_ENST00000367995.3_3'UTR	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	338	Peptidase M12B.				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)			GGGTCACAGACGGTGCCCACA	0.567000													17	102					0	0	1	0	0
FAM13C	220965	broad.mit.edu	37	10	61028385	61028385	+	Silent	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr10:61028385G>A	ENST00000373867.3	-	9	1086	c.621C>T	c.(619-621)acC>acT	p.T207T	FAM13C_ENST00000442566.3_Silent_p.T311T|FAM13C_ENST00000373868.2_Silent_p.T290T|FAM13C_ENST00000468840.2_Silent_p.T207T|FAM13C_ENST00000435852.2_Silent_p.T290T|FAM13C_ENST00000422313.2_Silent_p.T290T|FAM13C_ENST00000277705.6_Silent_p.T311T|FAM13C_ENST00000419214.2_Silent_p.T290T	NM_001166698.1	NP_001160170.1	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	290										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						GGATGTGCTTGGTGAGCTGGG	0.483000													5	18					0	0	1	0	0
HOXA3	3200	broad.mit.edu	37	7	27147827	27147827	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr7:27147827G>T	ENST00000396352.4	-	3	1238	c.1039C>A	c.(1039-1041)Cat>Aat	p.H347N	HOXA-AS2_ENST00000518088.1_RNA|HOXA3_ENST00000317201.2_Missense_Mutation_p.H347N	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	347					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						TGCAGGCCATGAGCGTGCGGG	0.706000													10	10					2.17888e-05	2.41344e-05	1	1	0
TTC7B	145567	broad.mit.edu	37	14	91196486	91196486	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr14:91196486C>A	ENST00000357056.2	-	5	752	c.631G>T	c.(631-633)Gat>Tat	p.D211Y	TTC7B_ENST00000328459.6_Missense_Mutation_p.D211Y			Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	211							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)				AGTTCTTGATCGTGGGGAGCA	0.408000													30	84					4.22769e-11	5.44046e-11	1	1	0
DNAH3	55567	broad.mit.edu	37	16	21045312	21045312	+	Silent	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr16:21045312G>T	ENST00000261383.3	-	36	5180	c.5181C>A	c.(5179-5181)ctC>ctA	p.L1727L	DNAH3_ENST00000415178.1_Silent_p.L1727L	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1727	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)		GTAAATCGCCGAGAGCTGCAG	0.532000													8	44					3.09899e-07	3.62599e-07	1	1	0
VAT1L	57687	broad.mit.edu	37	16	78005820	78005820	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr16:78005820C>A	ENST00000302536.2	+	8	1304	c.1151C>A	c.(1150-1152)cCa>cAa	p.P384Q		NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like	384							oxidoreductase activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						GAAAAGACCCCAACTCCACTG	0.527000											OREG0023950	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	70	100					5.00936e-31	7.87385e-31	1	1	0
ADAMTSL1	92949	broad.mit.edu	37	9	18636003	18636003	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr9:18636003C>A	ENST00000380548.4	+	6	1003	c.664C>A	c.(664-666)Cct>Act	p.P222T	ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.P222T|ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.P222T|ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.P222T	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	222						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)		CTTAAAAGGTCCTGATCACTT	0.353000													20	39					6.44725e-10	8.06536e-10	1	1	0
LPP	4026	broad.mit.edu	37	3	188326966	188326966	+	Silent	SNP	A	A	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr3:188326966A>T	ENST00000312675.4	+	6	693	c.447A>T	c.(445-447)acA>acT	p.T149T	LPP_ENST00000543006.1_Silent_p.T149T|LPP_ENST00000471917.1_3'UTR|LPP_ENST00000448637.1_Silent_p.T149T	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	149	Pro-rich.				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		CTGGTTCAACAGCCTCTCCTC	0.398000			T	"""HMGA2, MLL, C12orf9"""	"""lipoma, leukemia"""								62	110					0	0	1	0	0
SLITRK3	22865	broad.mit.edu	37	3	164907407	164907407	+	Silent	SNP	A	A	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr3:164907407A>T	ENST00000475390.1	-	2	1655	c.1212T>A	c.(1210-1212)ctT>ctA	p.L404L	SLITRK3_ENST00000241274.3_Silent_p.L404L			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	404	LRRNT.					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						AGGGCCTTGGAAGAAGTTCAG	0.398000										HNSCC(40;0.11)			22	68					0	0	1	0	0
PLEKHA6	22874	broad.mit.edu	37	1	204198183	204198183	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:204198183G>T	ENST00000272203.3	-	19	2949	c.2633C>A	c.(2632-2634)gCa>gAa	p.A878E	PLEKHA6_ENST00000414478.1_Missense_Mutation_p.A898E	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	878										breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			CCGCAGGGCTGCCTCCAGGTT	0.627000													24	70					4.7796e-09	5.81065e-09	1	1	0
XYLB	9942	broad.mit.edu	37	3	38420767	38420767	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr3:38420767C>T	ENST00000207870.3	+	15	1315	c.1225C>T	c.(1225-1227)Cga>Tga	p.R409*	XYLB_ENST00000542835.1_Nonsense_Mutation_p.R272*|XYLB_ENST00000472721.1_3'UTR	NM_005108.3	NP_005099.2	O75191	XYLB_HUMAN	xylulokinase homolog (H. influenzae)	409					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)		TGTGGAGGTTCGAGCACTAAT	0.527000													14	57					0	0	1	0	0
EDEM3	80267	broad.mit.edu	37	1	184723649	184723649	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:184723649C>A	ENST00000318130.8	-	1	398	c.132G>T	c.(130-132)atG>atT	p.M44I	EDEM3_ENST00000367512.3_Start_Codon_SNP_p.M1I	NM_025191.3	NP_079467.3	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like 3	44					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CCTCCCTACTCATGGGCTCGG	0.672000													11	59					0.0135373	0.0139221	1	1	0
KIF26A	26153	broad.mit.edu	37	14	104643535	104643535	+	Silent	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr14:104643535C>T	ENST00000315264.7	+	11	4371	c.3993C>T	c.(3991-3993)tcC>tcT	p.S1331S	KIF26A_ENST00000423312.2_Silent_p.S1470S			Q9ULI4	KI26A_HUMAN	kinesin family member 26A	1470					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)		TGCCACCCTCCAGCCCCACAC	0.721000													11	15					0	0	1	0	0
DTNA	1837	broad.mit.edu	37	18	32398187	32398187	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr18:32398187C>G	ENST00000283365.9	+	9	1120	c.769C>G	c.(769-771)Cga>Gga	p.R257G	DTNA_ENST00000348997.5_Missense_Mutation_p.R257G|DTNA_ENST00000399113.3_Missense_Mutation_p.R257G|DTNA_ENST00000598334.1_Missense_Mutation_p.R257G|DTNA_ENST00000554864.3_Missense_Mutation_p.R257G|DTNA_ENST00000399097.3_5'UTR|DTNA_ENST00000315456.6_Missense_Mutation_p.R257G|DTNA_ENST00000595022.1_Missense_Mutation_p.R257G|DTNA_ENST00000598142.1_Missense_Mutation_p.R257G|DTNA_ENST00000399121.5_Missense_Mutation_p.R257G|DTNA_ENST00000597599.1_Missense_Mutation_p.R257G|DTNA_ENST00000598774.1_Missense_Mutation_p.R257G|DTNA_ENST00000601125.1_5'UTR|DTNA_ENST00000444659.1_Missense_Mutation_p.R257G|DTNA_ENST00000269191.6_Missense_Mutation_p.R257G|DTNA_ENST00000596745.1_Intron|DTNA_ENST00000269190.7_Missense_Mutation_p.R257G	NM_032975.3	NP_116757.2	Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	257	Interaction with MAGEE1 (By similarity).				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						ATTTCGCTACCGATGCCAACA	0.478000													28	52					0	0	1	0	0
IPO13	9670	broad.mit.edu	37	1	44415552	44415552	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:44415552C>T	ENST00000372343.3	+	2	1210	c.548C>T	c.(547-549)cCc>cTc	p.P183L		NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	183					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)				AGTCGCCTACCCCAGTACCGC	0.647000													8	16					0	0	1	0	0
JADE1	79960	broad.mit.edu	37	4	129770171	129770171	+	Splice_Site	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr4:129770171G>A	ENST00000452328.2	+	5	386	c.296_splice	c.e5-1	p.R99_splice	PHF17_ENST00000511647.1_Silent_p.R111R|PHF17_ENST00000512960.1_Silent_p.R111R|PHF17_ENST00000226319.6_Silent_p.R111R|PHF17_ENST00000413543.2_Silent_p.R111R			Q6IE81	JADE1_HUMAN		99					apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	histone acetyltransferase complex|mitochondrion	protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						TGTTCATCAGGCCCAAGAAGT	0.512000													26	73					0	0	1	0	0
MS4A13	503497	broad.mit.edu	37	11	60285611	60285611	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:60285611G>T	ENST00000378186.2	+	3	378	c.55G>T	c.(55-57)Gga>Tga	p.G19*	MS4A13_ENST00000527948.1_Nonsense_Mutation_p.G19*|MS4A13_ENST00000378185.2_Nonsense_Mutation_p.G19*|MS4A13_ENST00000437058.2_Nonsense_Mutation_p.G19*	NM_001012417.2	NP_001012417.2	Q5J8X5	M4A13_HUMAN	membrane-spanning 4-domains, subfamily A, member 13	19						integral to membrane		p.G19*(1)		endometrium(3)|large_intestine(1)|lung(2)|skin(2)	8						TTTGTATATGGGACAAATTAA	0.328000													15	27					1.49906e-05	1.66537e-05	1	1	0
OR4K17	390436	broad.mit.edu	37	14	20586342	20586342	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr14:20586342C>A	ENST00000315543.4	+	1	777	c.777C>A	c.(775-777)caC>caA	p.H259Q		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	231					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		TTAAGAACCACTCTCCTACTG	0.438000													32	94					3.11337e-16	4.39201e-16	1	1	0
TANC1	85461	broad.mit.edu	37	2	160005783	160005783	+	Splice_Site	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr2:160005783G>T	ENST00000263635.6	+	6	732	c.495_splice	c.e6+1	p.M165_splice	TANC1_ENST00000454300.1_Intron	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	165						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						ATGAAACCATGGTAATGCCCG	0.473000													30	62					8.16721e-17	1.16311e-16	1	1	0
PAPPA2	60676	broad.mit.edu	37	1	176708813	176708813	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:176708813A>G	ENST00000367662.3	+	13	5014	c.3850A>G	c.(3850-3852)Act>Gct	p.T1284A		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1284					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						TTTTTTGACAACTGATGGCCT	0.438000													23	101					0	0	1	0	0
LHX8	431707	broad.mit.edu	37	1	75609601	75609601	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:75609601G>T	ENST00000294638.5	+	7	1346	c.682G>T	c.(682-684)Gct>Tct	p.A228S	LHX8_ENST00000356261.3_Missense_Mutation_p.A218S	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8	228						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						AGCAAAAAGAGCTCGGACCAG	0.398000													14	33					6.31663e-08	7.5123e-08	1	1	0
NCAM1	4684	broad.mit.edu	37	11	113103001	113103001	+	Silent	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:113103001G>T	ENST00000316851.7	+	10	1320	c.1320G>T	c.(1318-1320)cgG>cgT	p.R440R	NCAM1_ENST00000533760.1_Silent_p.R322R|NCAM1_ENST00000401611.2_Silent_p.R449R|NCAM1_ENST00000397957.4_3'UTR	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	450	Ig-like C2-type 5.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		CATGGTTTCGGGATGGCCAGC	0.557000													18	49					5.03518e-11	6.46105e-11	1	1	0
OR56B1	387748	broad.mit.edu	37	11	5757850	5757850	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:5757850G>T	ENST00000317121.3	+	1	170	c.104G>T	c.(103-105)tGg>tTg	p.W35L	TRIM5_ENST00000380027.1_Intron	NM_001005180.2	NP_001005180.1	Q8NGI3	O56B1_HUMAN	olfactory receptor, family 56, subfamily B, member 1	35					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)		TGGCAACACTGGCTATCTCTG	0.498000													10	42					4.68919e-08	5.60056e-08	1	1	0
LTBR	4055	broad.mit.edu	37	12	6494499	6494499	+	Silent	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr12:6494499C>T	ENST00000228918.4	+	4	752	c.426C>T	c.(424-426)tgC>tgT	p.C142C	LTBR_ENST00000541102.1_Silent_p.C35C|LTBR_ENST00000539925.1_Silent_p.C123C|LTBR_ENST00000543190.1_Silent_p.C35C	NM_002342.1	NP_002333.1	P36941	TNR3_HUMAN	lymphotoxin beta receptor (TNFR superfamily, member 3)	142					apoptosis|cellular response to mechanical stimulus|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	protein binding|receptor activity			breast(1)|cervix(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15						GTACACACTGCGAGCTACTTT	0.617000													22	43					0	0	1	0	0
SNX32	254122	broad.mit.edu	37	11	65620364	65620364	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:65620364C>T	ENST00000308342.6	+	12	1518	c.1093C>T	c.(1093-1095)Cgc>Tgc	p.R365C		NM_152760.2	NP_689973.2	Q86XE0	SNX32_HUMAN	sorting nexin 32	365					cell communication|protein transport		phosphatidylinositol binding			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				READ - Rectum adenocarcinoma(159;0.171)		CTTCAAGTCCCGCCGGGTCTC	0.637000													23	165					0	0	1	0	0
COL4A2	1284	broad.mit.edu	37	13	111130368	111130368	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr13:111130368G>A	ENST00000360467.5	+	30	2750	c.2444G>A	c.(2443-2445)gGg>gAg	p.G815E		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	815	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)			GGGATGCCTGGGATGCCAGGG	0.617000													24	41					0	0	1	0	0
KLC1	3831	broad.mit.edu	37	14	104145828	104145828	+	Silent	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr14:104145828C>T	ENST00000389744.4	+	13	1865	c.1596C>T	c.(1594-1596)taC>taT	p.Y532Y	KLC1_ENST00000334553.6_Silent_p.Y532Y|KLC1_ENST00000553286.1_Silent_p.Y532Y|KLC1_ENST00000380038.3_Silent_p.Y557Y|KLC1_ENST00000452929.2_Silent_p.Y532Y|KLC1_ENST00000445352.4_Silent_p.Y530Y|KLC1_ENST00000347839.6_Silent_p.Y532Y|KLC1_ENST00000555836.1_Silent_p.Y532Y|KLC1_ENST00000246489.7_Silent_p.Y532Y|KLC1_ENST00000348520.6_Silent_p.Y532Y|KLC1_ENST00000557575.1_Silent_p.Y532Y|KLC1_ENST00000557450.1_Silent_p.Y532Y|KLC1_ENST00000554280.1_Silent_p.Y532Y|RP11-73M18.2_ENST00000472726.2_Silent_p.Y704Y			Q07866	KLC1_HUMAN	kinesin light chain 1	532					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)				TGGTCAAGTACGAGAGTGGCC	0.582000													7	128					0	0	1	0	0
FAM47A	158724	broad.mit.edu	37	X	34150178	34150178	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:34150178C>A	ENST00000346193.3	-	1	269	c.218G>T	c.(217-219)cGt>cTt	p.R73L		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	73										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						AAACTCGTCACGGCGACAAAC	0.532000													23	87					5.35356e-11	6.83829e-11	1	1	0
PIGA	5277	broad.mit.edu	37	X	15349466	15349466	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:15349466G>C	ENST00000333590.4	-	2	671	c.587C>G	c.(586-588)gCa>gGa	p.A196G	PIGA_ENST00000482148.1_Intron|PIGA_ENST00000428964.1_Intron|PIGA_ENST00000542278.1_Intron	NM_002641.3	NP_002632.1	P37287	PIGA_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class A	196					C-terminal protein lipidation|positive regulation of metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity|protein binding			endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)|prostate(2)|urinary_tract(1)	10	Hepatocellular(33;0.183)					ATTCAGTGCTGCTCTTAGTAC	0.393000													15	42					0	0	1	0	0
BEND4	389206	broad.mit.edu	37	4	42145736	42145736	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr4:42145736T>A	ENST00000502486.1	-	3	1342	c.763A>T	c.(763-765)Aat>Tat	p.N255Y	BEND4_ENST00000504360.1_Missense_Mutation_p.N251Y	NM_207406.3	NP_997289.2	Q6ZU67	BEND4_HUMAN	BEN domain containing 4	255										NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						AGCAGGTAATTTTGTAGAGAG	0.478000													18	53					0	0	1	0	0
MMP10	4319	broad.mit.edu	37	11	102646042	102646042	+	Nonsense_Mutation	SNP	G	G	A	rs150825082	byFrequency	TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:102646042G>A	ENST00000279441.4	-	7	979	c.943C>T	c.(943-945)Cga>Tga	p.R315*		NM_002425.2	NP_002416.1	P09238	MMP10_HUMAN	matrix metallopeptidase 10 (stromelysin 2)	315	Hemopexin-like 1.				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)		TGGGATCTTCGCCAAAAATAT	0.333000													16	90					0	0	1	0	0
GATAD2B	57459	broad.mit.edu	37	1	153788828	153788828	+	Silent	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:153788828G>A	ENST00000368655.4	-	7	1380	c.1137C>T	c.(1135-1137)ttC>ttT	p.F379F		NM_020699.2	NP_065750.1	Q8WXI9	P66B_HUMAN	GATA zinc finger domain containing 2B	379	CR2.					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CACTAGGCAAGAAATGAAGTA	0.493000													37	84					0	0	1	0	0
ST14	6768	broad.mit.edu	37	11	130079567	130079567	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:130079567G>T	ENST00000278742.5	+	19	2835	c.2417G>T	c.(2416-2418)gGg>gTg	p.G806V		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	806	Peptidase S1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	GGTGATTCCGGGGGACCCCTG	0.721000													11	38					2.80697e-09	3.43296e-09	1	1	0
IRGC	56269	broad.mit.edu	37	19	44223091	44223091	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:44223091G>T	ENST00000244314.5	+	2	580	c.381G>T	c.(379-381)aaG>aaT	p.K127N		NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	127						membrane	GTP binding|hydrolase activity, acting on acid anhydrides			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				AGTACCTAAAGCAGGTAGACT	0.657000													8	12					5.18039e-06	5.84194e-06	1	1	0
FLT3	2322	broad.mit.edu	37	13	28623839	28623839	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr13:28623839C>A	ENST00000380982.4	-	7	896	c.815G>T	c.(814-816)tGc>tTc	p.C272F	FLT3_ENST00000241453.7_Missense_Mutation_p.C272F|FLT3_ENST00000537084.1_Missense_Mutation_p.C272F			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	272	Ig-like C2-type.				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)	AACAGCTTTGCACCTTATCCA	0.413000			"""Mis, O"""		"""AML, ALL"""								10	67					2.17888e-05	2.41344e-05	1	1	0
CHRNA2	1135	broad.mit.edu	37	8	27321355	27321355	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr8:27321355C>T	ENST00000407991.1	-	6	1213	c.605G>A	c.(604-606)gGc>gAc	p.G202D	CHRNA2_ENST00000520933.2_Missense_Mutation_p.G202D|CHRNA2_ENST00000240132.2_Missense_Mutation_p.G187D	NM_000742.3	NP_000733.2	Q15822	ACHA2_HUMAN	cholinergic receptor, nicotinic, alpha 2 (neuronal)	202						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine Iodide(DB00416)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199)	AGTCCAGGAGCCAAACTTCAT	0.577000													30	54					0	0	1	0	0
FRMPD3	84443	broad.mit.edu	37	X	106844065	106844065	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:106844065C>A	ENST00000276185.4	+	16	2895	c.2895C>A	c.(2893-2895)aaC>aaA	p.N965K				Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	965						cytoskeleton				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						TGAGGGACAACCTGCCCAAGG	0.582000													4	20					0.00909568	0.00937143	1	1	0
DIDO1	11083	broad.mit.edu	37	20	61512238	61512238	+	Silent	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr20:61512238C>A	ENST00000266070.4	-	16	5395	c.5070G>T	c.(5068-5070)tcG>tcT	p.S1690S	DIDO1_ENST00000395343.1_Silent_p.S1690S	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1690					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)					CCTTGTCCTGCGACGCGAACC	0.652000													29	107					2.12542e-12	2.78953e-12	1	1	0
CCDC108	255101	broad.mit.edu	37	2	219897217	219897217	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr2:219897217G>A	ENST00000341552.5	-	6	703	c.620C>T	c.(619-621)cCc>cTc	p.P207L	CCDC108_ENST00000453220.1_Missense_Mutation_p.P207L|CCDC108_ENST00000441968.1_Missense_Mutation_p.P207L|CCDC108_ENST00000409865.3_Missense_Mutation_p.P196L|CCDC108_ENST00000410037.1_Missense_Mutation_p.P142L	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	207						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)		GAAGACGATGGGGAGCGTGAG	0.612000													5	9					0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127674690	127674690	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr5:127674690C>T	ENST00000508053.1	-	32	4381	c.3407G>A	c.(3406-3408)gGc>gAc	p.G1136D	FBN2_ENST00000262464.4_Missense_Mutation_p.G1136D|FBN2_ENST00000508989.1_Missense_Mutation_p.G1103D|FBN2_ENST00000507835.1_5'UTR			P35556	FBN2_HUMAN	fibrillin 2	1136	EGF-like 16; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CTCAAAGCTGCCCGGTGTATT	0.463000													33	34					0	0	1	0	0
PODN	127435	broad.mit.edu	37	1	53544151	53544151	+	Silent	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:53544151C>T	ENST00000371500.3	+	10	1397	c.1056C>T	c.(1054-1056)agC>agT	p.S352S	RP11-334A14.5_ENST00000447867.1_RNA|PODN_ENST00000312553.5_Silent_p.S371S|PODN_ENST00000395871.2_Silent_p.S229S	NM_001199080.1	NP_001186009.1	Q7Z5L7	PODN_HUMAN	podocan	323					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						CCATCCGGAGCGTGGACGCGA	0.647000													13	73					0	0	1	0	0
MIA-RAB4B	100529262	broad.mit.edu	37	19	41281460	41281460	+	Silent	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:41281460C>T	ENST00000600729.1	+	2	435	c.13C>T	c.(13-15)Ctg>Ttg	p.L5L	MIA_ENST00000263369.3_Silent_p.L5L|MIA_ENST00000597784.1_Silent_p.L5L|MIA_ENST00000594436.1_Silent_p.L5L																							GGCCCGGTCCCTGGTGTGCCT	0.597000													42	243					0	0	1	0	0
ZC3H7B	23264	broad.mit.edu	37	22	41752812	41752812	+	Splice_Site	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr22:41752812G>T	ENST00000352645.4	+	22	2938	c.2681_splice	c.e22+1	p.R894_splice	ZC3H7B_ENST00000351589.4_Splice_Site_p.R894_splice	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	910					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			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						CTCTGCGACAGGTGCTCCTGG	0.667000													70	67					2.0493e-37	3.27858e-37	1	1	0
TRPM6	140803	broad.mit.edu	37	9	77370382	77370382	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr9:77370382G>A	ENST00000451710.3	-	28	5030	c.4793C>T	c.(4792-4794)aCa>aTa	p.T1598I	TRPM6_ENST00000449912.2_Missense_Mutation_p.T1593I|TRPM6_ENST00000376864.4_Missense_Mutation_p.T1598I|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376872.3_Missense_Mutation_p.T549I|TRPM6_ENST00000361255.3_Missense_Mutation_p.T1593I|TRPM6_ENST00000360774.1_Missense_Mutation_p.T1598I			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1598					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GGCATTGACTGTTATGATCTG	0.458000													31	83					0	0	1	0	0
CYLC1	1538	broad.mit.edu	37	X	83127971	83127971	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:83127971G>C	ENST00000329312.4	+	4	292	c.255G>C	c.(253-255)ttG>ttC	p.L85F		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	85					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						GAAAAATTTTGCAATGGCCAC	0.363000													5	23					0	0	1	0	0
PLXNC1	10154	broad.mit.edu	37	12	94618092	94618092	+	Splice_Site	SNP	G	G	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr12:94618092G>C	ENST00000258526.4	+	7	2039		c.e7+1			NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1						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						CATTAAAAGAGTAAGATTTTA	0.343000													23	59					0	0	1	0	0
SON	6651	broad.mit.edu	37	21	34927404	34927404	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr21:34927404G>T	ENST00000356577.4	+	3	6342	c.5867G>T	c.(5866-5868)cGc>cTc	p.R1956L	SON_ENST00000381692.2_Intron|SON_ENST00000300278.4_Missense_Mutation_p.R1956L|SON_ENST00000290239.6_Missense_Mutation_p.R1956L|SON_ENST00000381679.4_Missense_Mutation_p.R1956L	NM_138927.1	NP_620305.1	P18583	SON_HUMAN	SON DNA binding protein	1956	2 X 19 AA repeats of P-S-R-R-R-R-S-R-S-V- V-R-R-R-S-F-S-I-S.|7 X 7 AA repeats of P-S-R-R-S-R-[TS].				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|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						CCAAgccgccgcagccgcacc	0.697000													5	10					1.23904e-05	1.37992e-05	1	1	0
FAM129A	116496	broad.mit.edu	37	1	184764687	184764687	+	Silent	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:184764687C>T	ENST00000367511.3	-	14	2404	c.2211G>A	c.(2209-2211)gaG>gaA	p.E737E	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	737	Glu-rich.				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						GAACGTGGCTCTCCCCATTCG	0.527000													20	157					0	0	1	0	0
NUP43	348995	broad.mit.edu	37	6	150067624	150067624	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr6:150067624T>C	ENST00000340413.2	-	1	84	c.8A>G	c.(7-9)gAa>gGa	p.E3G	NUP43_ENST00000463048.3_Intron|NUP43_ENST00000367403.3_Missense_Mutation_p.E64G|NUP43_ENST00000367404.4_Missense_Mutation_p.E3G|NUP43_ENST00000460354.2_Missense_Mutation_p.E3G	NM_198887.1	NP_942590.1	Q8NFH3	NUP43_HUMAN	nucleoporin 43kDa	3					carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	protein binding			breast(1)|large_intestine(2)|lung(8)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;4.71e-13)|GBM - Glioblastoma multiforme(68;0.101)		CGCATAAATTTCCTCCATGCC	0.572000											OREG0017720	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	47	61					0	0	1	0	0
RGR	5995	broad.mit.edu	37	10	86008673	86008673	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr10:86008673C>A	ENST00000359452.4	+	3	282	c.244C>A	c.(244-246)Cac>Aac	p.H82N	RGR_ENST00000372092.3_Missense_Mutation_p.P65Q|RGR_ENST00000358110.5_Intron	NM_001012720.1|NM_002921.3	NP_001012738.1|NP_002912.2	P47804	RGR_HUMAN	retinal G protein coupled receptor	79					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						CAGTGTCTCCCACAGGCGCTG	0.617000													14	80					0.00074312	0.000785124	1	1	0
SALL3	27164	broad.mit.edu	37	18	76754197	76754197	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr18:76754197C>T	ENST00000536229.3	+	1	2516	c.1807C>T	c.(1807-1809)Cgc>Tgc	p.R603C	SALL3_ENST00000537592.2_Missense_Mutation_p.R736C|SALL3_ENST00000575389.2_Missense_Mutation_p.R736C			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	736					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)		GCCGCCCCTGCGCGTGCAGCA	0.652000													7	33					0	0	1	0	0
WISP1	8840	broad.mit.edu	37	8	134225326	134225326	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr8:134225326C>T	ENST00000250160.6	+	2	395	c.289C>T	c.(289-291)Cgg>Tgg	p.R97W	WISP1_ENST00000220856.6_Missense_Mutation_p.R97W|WISP1_ENST00000519433.1_Intron|WISP1_ENST00000517423.1_Missense_Mutation_p.R97W|WISP1_ENST00000377863.2_Intron	NM_003882.3	NP_003873.1	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	97	IGFBP N-terminal.				cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	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)			TGACCCCCACCGGGGCCTCTA	0.607000													8	72					0	0	1	0	0
CCDC83	220047	broad.mit.edu	37	11	85584275	85584275	+	Translation_Start_Site	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:85584275C>A	ENST00000376067.1	+	0	629				CCDC83_ENST00000342404.3_Silent_p.A39A|CCDC83_ENST00000529676.2_3'UTR|CCDC83_ENST00000280245.4_Silent_p.A39A			Q8IWF9	CCD83_HUMAN	coiled-coil domain containing 83											breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				AGGAAGATGCCGTGGAGCAAT	0.274000													9	24					2.80697e-09	3.43296e-09	1	1	0
SPTA1	6708	broad.mit.edu	37	1	158653227	158653227	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:158653227C>A	ENST00000368148.3	-	3	504	c.324G>T	c.(322-324)atG>atT	p.M108I	SPTA1_ENST00000368147.3_Missense_Mutation_p.M108I	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	108					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)					CCAGTTCAGACATGAGTCTTG	0.398000													26	82					8.24728e-16	1.15906e-15	1	1	0
CLEC4F	165530	broad.mit.edu	37	2	71044165	71044165	+	Silent	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr2:71044165G>A	ENST00000272367.2	-	4	424	c.348C>T	c.(346-348)gcC>gcT	p.A116A	CLEC4F_ENST00000426626.1_Silent_p.A116A	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	116					endocytosis	integral to membrane	receptor activity|sugar binding			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						CTACTACCCAGGCACTGGAAT	0.493000													24	60					0	0	1	0	0
KRTAP11-1	337880	broad.mit.edu	37	21	32253635	32253635	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr21:32253635C>A	ENST00000332378.4	-	1	239	c.209G>T	c.(208-210)tGt>tTt	p.C70F		NM_175858.2	NP_787054.1	Q8IUC1	KR111_HUMAN	keratin associated protein 11-1	70						keratin filament	structural molecule activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						TCGCCGGTAACAGGTTGGCTG	0.572000													18	22					8.28177e-16	1.16245e-15	1	1	0
ADAM19	8728	broad.mit.edu	37	5	156921727	156921727	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr5:156921727G>T	ENST00000257527.4	-	15	1749	c.1671C>A	c.(1669-1671)gaC>gaA	p.D557E	ADAM19_ENST00000394020.1_Missense_Mutation_p.D559E|ADAM19_ENST00000430702.2_Missense_Mutation_p.D290E|ADAM19_ENST00000517905.1_Missense_Mutation_p.D557E	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	557	Cys-rich.			D -> V (in Ref. 1; AAG50282 and 5; AAF22162).	proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|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)			CACCATTCATGTCCTTTCCAC	0.517000													19	35					2.39187e-15	3.32503e-15	1	1	0
FAM120C	54954	broad.mit.edu	37	X	54209050	54209050	+	Silent	SNP	C	C	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:54209050C>G	ENST00000375180.2	-	1	638	c.582G>C	c.(580-582)gcG>gcC	p.A194A	FAM120C_ENST00000328235.4_Silent_p.A194A|FAM120C_ENST00000497680.1_5'UTR|FAM120C_ENST00000477084.1_Silent_p.A194A	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	194										breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						CGATCAGTTGCGCTGTCTGCC	0.716000													3	19					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62292479	62292479	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:62292479G>A	ENST00000378024.4	-	5	9684	c.9410C>T	c.(9409-9411)cCa>cTa	p.P3137L	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3137					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)				ATCCACATCTGGGGCATTAAT	0.468000													208	228					0	0	1	0	0
CXXC11	285093	broad.mit.edu	37	2	242815330	242815330	+	Silent	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr2:242815330C>T	ENST00000343216.3	+	2	1651	c.1623C>T	c.(1621-1623)taC>taT	p.Y541Y		NM_173821.2	NP_776182.2	Q14D33	CB085_HUMAN	CXXC finger protein 11	541						integral to membrane											CCGAGCCCTACGAGGACTTCT	0.667000													5	199					0	0	1	0	0
PCDHB14	56122	broad.mit.edu	37	5	140605021	140605021	+	Silent	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr5:140605021C>T	ENST00000239449.4	+	1	1944	c.1944C>T	c.(1942-1944)ggC>ggT	p.G648G	PCDHB14_ENST00000515856.2_Silent_p.G495G	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		648	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGACAATGGCGAGCCTCCTC	0.726000													11	54					0	0	1	0	0
IGSF9B	22997	broad.mit.edu	37	11	133789806	133789806	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:133789806C>T	ENST00000321016.8	-	18	4044	c.3814G>A	c.(3814-3816)Gcc>Acc	p.A1272T	IGSF9B_ENST00000533871.2_Missense_Mutation_p.A1272T			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	1272	Pro-rich.					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)		AAGCCCATGGCGGGCCGGTAG	0.692000													3	53					0	0	1	0	0
ACTN2	88	broad.mit.edu	37	1	236850097	236850097	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:236850097A>G	ENST00000366578.4	+	1	290	c.124A>G	c.(124-126)Aag>Gag	p.K42E	ACTN2_ENST00000542672.1_Missense_Mutation_p.K42E|ACTN2_ENST00000492634.1_3'UTR	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	42	Actin-binding.|CH 1.				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP 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)			GCAGCAGAGGAAGGTCAGCAg	0.716000													6	20					0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	51255066	51255066	+	Missense_Mutation	SNP	T	T	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr2:51255066T>G	ENST00000404971.1	-	2	1685	c.346A>C	c.(346-348)Agc>Cgc	p.S116R	NRXN1_ENST00000402717.3_Missense_Mutation_p.S116R|NRXN1_ENST00000405581.1_Missense_Mutation_p.S116R|NRXN1_ENST00000406316.2_Missense_Mutation_p.S116R|NRXN1_ENST00000405472.3_Missense_Mutation_p.S116R|NRXN1_ENST00000401669.2_Missense_Mutation_p.S116R|NRXN1_ENST00000406859.3_Missense_Mutation_p.S116R	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	116	Laminin G-like 1.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			ATGCGCACGCTGTGCCAGGCG	0.667000													8	46					0	0	1	0	0
ATP8B2	57198	broad.mit.edu	37	1	154303373	154303373	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:154303373A>T	ENST00000368489.3	+	4	272	c.272A>T	c.(271-273)aAc>aTc	p.N91I	ATP8B2_ENST00000426445.1_3'UTR|ATP8B2_ENST00000341822.2_Missense_Mutation_p.N77I|ATP8B2_ENST00000368487.3_Missense_Mutation_p.N58I	NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	77					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)			GAAGTTGCCAACACTTACTTC	0.458000													14	52					0	0	1	0	0
ZPBP	11055	broad.mit.edu	37	7	50121398	50121398	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr7:50121398C>T	ENST00000046087.2	-	3	375	c.306G>A	c.(304-306)tgG>tgA	p.W102*	ZPBP_ENST00000419417.1_Nonsense_Mutation_p.W102*	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein	102					binding of sperm to zona pellucida	extracellular region				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					TAGGCCCATACCATTGGAATG	0.368000													4	33					0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80746082	80746082	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr12:80746082C>T	ENST00000458043.2	+	44	5252	c.5246C>T	c.(5245-5247)cCg>cTg	p.P1749L	OTOGL_ENST00000547103.1_Missense_Mutation_p.P1737L	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TAGGTTTCACCGGAAGACTTT	0.343000													7	17					0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135432217	135432217	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:135432217A>T	ENST00000394143.1	+	6	6643	c.6352A>T	c.(6352-6354)Agg>Tgg	p.R2118W	GPR112_ENST00000287534.4_Missense_Mutation_p.R2055W|GPR112_ENST00000370652.1_Missense_Mutation_p.R2118W|GPR112_ENST00000394141.1_Missense_Mutation_p.R1913W|GPR112_ENST00000412101.1_Missense_Mutation_p.R1913W	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2118					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TGCCAACCCCAGGACTGTGTC	0.478000													24	58					0	0	1	0	0
LIPC	3990	broad.mit.edu	37	15	58834827	58834827	+	Missense_Mutation	SNP	C	C	T	rs138967170		TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr15:58834827C>T	ENST00000414170.3	+	5	838	c.551C>T	c.(550-552)aCg>aTg	p.T184M	LIPC_ENST00000299022.5_Missense_Mutation_p.T184M|LIPC_ENST00000433326.2_Missense_Mutation_p.T123M|LIPC_ENST00000356113.6_Missense_Mutation_p.T184M			P11150	LIPC_HUMAN	lipase, hepatic	184	Heparin-binding (Potential).				cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		ATCGGTGGAACGCACAAGATT	0.512000													37	78					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105411764	105411764	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr14:105411764C>T	ENST00000333244.5	-	7	10143	c.10024G>A	c.(10024-10026)Gtg>Atg	p.V3342M	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3342						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)			GGGAGGCTCACGTCGGCCTCC	0.622000													5	335					0	0	1	0	0
LEPRE1	64175	broad.mit.edu	37	1	43220835	43220835	+	Splice_Site	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:43220835C>A	ENST00000236040.4	-	7	1264		c.e7+1		LEPRE1_ENST00000397054.3_Splice_Site|LEPRE1_ENST00000296388.5_Splice_Site	NM_001243246.1	NP_001230175.1	Q32P28	P3H1_HUMAN	leucine proline-enriched proteoglycan (leprecan) 1						negative regulation of cell proliferation	endoplasmic reticulum|proteinaceous extracellular matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-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)	AAGGTCCTCACTTCTGTTTCT	0.463000													13	41					7.93312e-07	9.17689e-07	1	1	0
ACTN2	88	broad.mit.edu	37	1	236902635	236902635	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:236902635C>A	ENST00000366578.4	+	10	1076	c.910C>A	c.(910-912)Ctg>Atg	p.L304M	ACTN2_ENST00000542672.1_Missense_Mutation_p.L304M|ACTN2_ENST00000492634.1_3'UTR|ACTN2_ENST00000546208.1_Intron	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	304					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP 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)			GATCCCCTGGCTGGAGAACCG	0.542000													32	173					6.05902e-23	9.15177e-23	1	1	0
PDCD11	22984	broad.mit.edu	37	10	105200102	105200102	+	Missense_Mutation	SNP	A	A	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr10:105200102A>C	ENST00000369797.3	+	29	4298	c.4204A>C	c.(4204-4206)Aag>Cag	p.K1402Q		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	1402					mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		AGACACTGGGAAGCCAGACGT	0.483000													33	104					0	0	1	0	0
TESPA1	9840	broad.mit.edu	37	12	55356389	55356389	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr12:55356389G>C	ENST00000524622.1	-	7	1540	c.879C>G	c.(877-879)ttC>ttG	p.F293L	TESPA1_ENST00000449076.1_Missense_Mutation_p.F431L|TESPA1_ENST00000532804.1_Missense_Mutation_p.F293L|TESPA1_ENST00000531122.1_Missense_Mutation_p.F293L|TESPA1_ENST00000316577.8_Missense_Mutation_p.F431L	NM_001261844.1|NM_014796.2	NP_001248773.1|NP_055611.1	A2RU30	K0748_HUMAN	thymocyte expressed, positive selection associated 1	431																	TTCTTTTCCAGAAAGTCTCAT	0.498000													47	129					0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128484762	128484762	+	Silent	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr7:128484762G>A	ENST00000325888.8	+	21	3504	c.3243G>A	c.(3241-3243)gcG>gcA	p.A1081A	FLNC_ENST00000346177.6_Silent_p.A1081A	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1081					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						GCACCCCCGCGCCATTCTCCA	0.647000													11	54					0	0	1	0	0
PHACTR1	221692	broad.mit.edu	37	6	12933902	12933902	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr6:12933902G>A	ENST00000379348.2	+	4	465	c.288G>A	c.(286-288)atG>atA	p.M96I	PHACTR1_ENST00000332995.7_Intron|PHACTR1_ENST00000379350.1_Intron			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	0						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			AAGCAAGAATGGGACCAGCAG	0.498000													13	115					0	0	1	0	0
TMEM8B	51754	broad.mit.edu	37	9	35853796	35853796	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr9:35853796G>T	ENST00000377988.2	+	13	2666	c.1378G>T	c.(1378-1380)Ggc>Tgc	p.G460C	TMEM8B_ENST00000377991.4_Missense_Mutation_p.G460C	NM_001042590.2	NP_001036055.1	A6NDV4	TMM8B_HUMAN	transmembrane protein 8B	460					cell-matrix adhesion|regulation of growth|regulation of mitotic cell cycle	cell surface|endoplasmic reticulum|integral to membrane|mitochondrion|nucleus|plasma membrane	protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	7						GGGCCTCGTGGGCCCAGGAGG	0.642000													22	61					1.1804e-14	1.62431e-14	1	1	0
TMEM181	57583	broad.mit.edu	37	6	158957859	158957859	+	Silent	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr6:158957859G>A	ENST00000367090.3	+	1	392	c.381G>A	c.(379-381)aaG>aaA	p.K127K		NM_020823.1	NP_065874.1	Q9P2C4	TM181_HUMAN	transmembrane protein 181	127					pathogenesis	integral to membrane	toxin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)	22		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05)		GCGAGCTCAAGGAGGACCTCA	0.726000													11	22					0	0	1	0	0
UGT2B15	7366	broad.mit.edu	37	4	69536127	69536127	+	Silent	SNP	A	A	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr4:69536127A>T	ENST00000338206.5	-	1	219	c.210T>A	c.(208-210)tcT>tcA	p.S70S		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	70					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										ATTTAATAGCAGATGATTTAC	0.343000													66	140					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164777734	164777734	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr3:164777734C>A	ENST00000264382.3	-	10	1164	c.1102G>T	c.(1102-1104)Gtg>Ttg	p.V368L		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	368	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	ACTTCTTTCACTACATCTAGT	0.383000										HNSCC(35;0.089)			56	166					3.37043e-27	5.20652e-27	1	1	0
CLIP2	7461	broad.mit.edu	37	7	73790270	73790270	+	Silent	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr7:73790270C>A	ENST00000223398.6	+	10	1866	c.1539C>A	c.(1537-1539)acC>acA	p.T513T	CLIP2_ENST00000361545.5_Silent_p.T478T|CLIP2_ENST00000395060.1_Silent_p.T513T	NM_003388.4	NP_003379.3	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	513						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						AGGAGCTCACCCTGCGCCGAG	0.682000													3	7					0.115264	0.116511	1	1	0
POLR1A	25885	broad.mit.edu	37	2	86325826	86325826	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr2:86325826G>A	ENST00000263857.6	-	3	718	c.340C>T	c.(340-342)Cgg>Tgg	p.R114W	POLR1A_ENST00000409681.1_Missense_Mutation_p.R114W			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	114					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						ATCACGGCCCGGGGACAAGTC	0.507000													23	210					0	0	1	0	0
NAGLU	4669	broad.mit.edu	37	17	40690460	40690460	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr17:40690460G>C	ENST00000225927.2	+	3	736	c.635G>C	c.(634-636)gGc>gCc	p.G212A	RP11-400F19.8_ENST00000585572.1_RNA	NM_000263.3	NP_000254.2	P54802	ANAG_HUMAN	N-acetylglucosaminidase, alpha	212						lysosome	alpha-N-acetylglucosaminidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	12		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)	N-Acetyl-D-glucosamine(DB00141)	ACCTGGGATGGCCCCCTGCCC	0.592000													24	116					0	0	1	0	0
USH1C	10083	broad.mit.edu	37	11	17552946	17552946	+	Splice_Site	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:17552946C>T	ENST00000005226.7	-	3	247	c.248_splice	c.e3+1	p.R83_splice	USH1C_ENST00000527720.1_Splice_Site_p.R52_splice|USH1C_ENST00000527020.1_Splice_Site_p.R83_splice|USH1C_ENST00000318024.4_Splice_Site_p.R83_splice	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	83					equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						TCCTCTGCACCTGGAGCGCCG	0.627000													10	15					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152285472	152285472	+	Silent	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:152285472G>A	ENST00000368799.1	-	3	1925	c.1890C>T	c.(1888-1890)caC>caT	p.H630H	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	630	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.H630Q(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)			AGTCTTCTGAGTGTCCCTGAC	0.567000									Ichthyosis				10	337					0	0	1	0	0
OR10T2	128360	broad.mit.edu	37	1	158369201	158369201	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:158369201G>C	ENST00000334438.1	-	1	55	c.56C>G	c.(55-57)tCc>tGc	p.S19C		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	19					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					CCCCAGGCTGGAGAAACCCAC	0.458000													6	35					0	0	1	0	0
RGS7	6000	broad.mit.edu	37	1	240979664	240979664	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:240979664G>T	ENST00000366565.1	-	11	1117	c.736C>A	c.(736-738)Ccc>Acc	p.P246T	RGS7_ENST00000407727.1_Missense_Mutation_p.P246T|RGS7_ENST00000366563.1_Missense_Mutation_p.P246T|RGS7_ENST00000366562.4_Missense_Mutation_p.P246T|RGS7_ENST00000366564.1_Missense_Mutation_p.P246T|RGS7_ENST00000446183.2_Missense_Mutation_p.P162T|RGS7_ENST00000348120.2_Missense_Mutation_p.P193T|RGS7_ENST00000331110.7_Missense_Mutation_p.P220T|RGS7_ENST00000401882.1_Missense_Mutation_p.P193T	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	246					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)			TCTGGTGTGGGTGTGTGGGTA	0.353000													37	168					5.2432e-18	7.54846e-18	1	1	0
PDGFRA	5156	broad.mit.edu	37	4	55152033	55152033	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr4:55152033G>T	ENST00000257290.5	+	18	2796	c.2465G>T	c.(2464-2466)cGc>cTc	p.R822L	FIP1L1_ENST00000507166.1_Missense_Mutation_p.R582L	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	822	Protein kinase.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|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)	CTGGCTGCTCGCAACGTCCTC	0.493000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			40	85					9.84934e-19	1.42898e-18	1	1	0
AASDH	132949	broad.mit.edu	37	4	57204735	57204735	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr4:57204735C>T	ENST00000205214.6	-	15	3310	c.3130G>A	c.(3130-3132)Gat>Aat	p.D1044N	AASDH_ENST00000451613.1_3'UTR|AASDH_ENST00000434343.2_Missense_Mutation_p.D559N|AASDH_ENST00000513376.1_Missense_Mutation_p.D944N	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	1044					fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				ACTTTCCCATCAGTAGATGCT	0.433000													24	45					0	0	1	0	0
CEP164	22897	broad.mit.edu	37	11	117242024	117242024	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:117242024G>A	ENST00000278935.3	+	9	1141	c.994G>A	c.(994-996)Gca>Aca	p.A332T	CEP164_ENST00000533706.1_3'UTR	NM_014956.4	NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	332					cell division|DNA repair|G2/M transition of mitotic cell cycle|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)		GACCCCCAAGGCAGACCCTAC	0.537000													15	212					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139611104	139611104	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr8:139611104C>A	ENST00000303045.6	-	61	4669	c.4223G>T	c.(4222-4224)gGt>gTt	p.G1408V	COL22A1_ENST00000435777.1_Missense_Mutation_p.G1388V|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1408	Collagen-like 14.|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)			GCCTTTTCCACCAGGAGGTCC	0.572000										HNSCC(7;0.00092)			6	39					0.248553	0.249554	1	1	0
CHRM3	1131	broad.mit.edu	37	1	240071054	240071054	+	Silent	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:240071054G>T	ENST00000255380.4	+	5	1082	c.303G>T	c.(301-303)acG>acT	p.T101T		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	101					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)	AGCTGAAGACGGTCAACAACT	0.468000													15	52					1.52009e-12	2.00209e-12	1	1	0
MID1	4281	broad.mit.edu	37	X	10417702	10417702	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:10417702C>A	ENST00000317552.4	-	10	2110	c.1710G>T	c.(1708-1710)aaG>aaT	p.K570N	MID1_ENST00000380779.1_Missense_Mutation_p.K570N|MID1_ENST00000453318.2_Missense_Mutation_p.K570N|MID1_ENST00000380785.1_Missense_Mutation_p.K570N|MID1_ENST00000479925.1_5'UTR|MID1_ENST00000380787.1_Missense_Mutation_p.K570N|MID1_ENST00000380782.2_Intron|MID1_ENST00000380780.1_Missense_Mutation_p.K570N	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1 (Opitz/BBB syndrome)	570	B30.2/SPRY.				microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade	cytoplasm|microtubule|microtubule associated complex|spindle	ligase activity|ubiquitin protein ligase binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						AAGCAGAGTTCTTCCCAATCC	0.522000													9	33					5.4927e-09	6.65953e-09	1	1	0
DDX54	79039	broad.mit.edu	37	12	113612894	113612894	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr12:113612894G>A	ENST00000314045.7	-	8	848	c.821C>T	c.(820-822)aCg>aTg	p.T274M	DDX54_ENST00000306014.5_Missense_Mutation_p.T274M	NM_001111322.1	NP_001104792.1	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	274	Helicase ATP-binding.				estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GAACAGCACCGTCTGGTGGCC	0.657000											OREG0022139	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	75					0	0	1	0	0
OR4Q3	441669	broad.mit.edu	37	14	20216172	20216172	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr14:20216172G>T	ENST00000331723.1	+	1	586	c.586G>T	c.(586-588)Gta>Tta	p.V196L		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CACCTATGTGGTAGAGGTGCT	0.488000													13	57					0.00136819	0.0014374	1	1	0
MAGED2	10916	broad.mit.edu	37	X	54839587	54839587	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:54839587G>T	ENST00000375068.1	+	9	1435	c.1202G>T	c.(1201-1203)cGc>cTc	p.R401L	MAGED2_ENST00000347546.3_Missense_Mutation_p.R345L|MAGED2_ENST00000218439.4_Missense_Mutation_p.R401L|MAGED2_ENST00000375053.2_Missense_Mutation_p.R401L|MAGED2_ENST00000375058.1_Missense_Mutation_p.R401L|MAGED2_ENST00000396224.1_Missense_Mutation_p.R401L|MAGED2_ENST00000343474.6_Missense_Mutation_p.R383L|MAGED2_ENST00000375062.4_Missense_Mutation_p.R316L|MAGED2_ENST00000375060.1_Missense_Mutation_p.R316L			Q9UNF1	MAGD2_HUMAN	melanoma antigen family D, 2	401	MAGE.							p.R401H(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26						TTGGGGCTGCGCCCTGGGTAT	0.572000													31	110					1.62565e-12	2.1361e-12	1	1	0
GPR128	84873	broad.mit.edu	37	3	100364805	100364805	+	Silent	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr3:100364805C>T	ENST00000273352.3	+	9	1231	c.963C>T	c.(961-963)tgC>tgT	p.C321C	GPR128_ENST00000475887.1_Silent_p.C26C	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	321					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						CCAAGACATGCGGCTTTGTAG	0.308000													7	38					0	0	1	0	0
HAVCR2	84868	broad.mit.edu	37	5	156514118	156514118	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr5:156514118G>T	ENST00000307851.4	-	7	1631	c.901C>A	c.(901-903)Cca>Aca	p.P301T	HAVCR2_ENST00000522593.1_Missense_Mutation_p.P273T	NM_032782.4	NP_116171.3	Q8TDQ0	HAVR2_HUMAN	hepatitis A virus cellular receptor 2	301						integral to membrane				cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGGATCTATGGCATTGCAAAG	0.448000													13	13					2.32078e-09	2.86018e-09	1	1	0
PLEKHA6	22874	broad.mit.edu	37	1	204226816	204226816	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:204226816G>A	ENST00000272203.3	-	9	1505	c.1189C>T	c.(1189-1191)Cgc>Tgc	p.R397C	PLEKHA6_ENST00000414478.1_Missense_Mutation_p.R417C	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	397										breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			CCCCCATTGCGGAAGGCATGG	0.682000													8	15					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10348411	10348411	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr17:10348411A>T	ENST00000255381.2	-	37	5458	c.5348T>A	c.(5347-5349)cTg>cAg	p.L1783Q	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1783					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CATCCGCTCCAGGTGGGCGCT	0.512000													53	127					0	0	1	0	0
CSF2RB	1439	broad.mit.edu	37	22	37333555	37333555	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr22:37333555C>A	ENST00000262825.5	+	14	1940	c.1723C>A	c.(1723-1725)Ccc>Acc	p.P575T	CSF2RB_ENST00000406230.1_Missense_Mutation_p.P575T|CSF2RB_ENST00000403662.3_Missense_Mutation_p.P569T|CSF2RB_ENST00000536485.1_Missense_Mutation_p.P516T	NM_000395.2	NP_000386.1	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	569					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	GCCCCCCAGCCCCCAGCCAGG	0.642000													25	33					4.87955e-14	6.6212e-14	1	1	0
CRB1	23418	broad.mit.edu	37	1	197396875	197396875	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:197396875T>C	ENST00000367397.1	+	3	1421	c.563T>C	c.(562-564)cTg>cCg	p.L188P	CRB1_ENST00000367400.3_Missense_Mutation_p.L807P|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000544212.1_Missense_Mutation_p.L288P|CRB1_ENST00000367399.2_Missense_Mutation_p.L695P|CRB1_ENST00000535699.1_Missense_Mutation_p.L738P			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	807	EGF-like 5; calcium-binding (Potential).				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						AAAATTGAACTGTATCAGTCT	0.363000													15	53					0	0	1	0	0
KCNA10	3744	broad.mit.edu	37	1	111060310	111060310	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:111060310G>T	ENST00000369771.2	-	1	1487	c.1100C>A	c.(1099-1101)aCa>aAa	p.T367K		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	367						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			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)		CGCCTTCAGTGTTTGCCCGAG	0.557000													29	78					1.26454e-06	1.45829e-06	1	1	0
FAM71B	153745	broad.mit.edu	37	5	156589499	156589499	+	Missense_Mutation	SNP	C	C	G	rs148633922		TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr5:156589499C>G	ENST00000302938.4	-	2	1872	c.1777G>C	c.(1777-1779)Gag>Cag	p.E593Q		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	593						nucleus				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)			TCCGTCTTCTCGGATGTCATA	0.517000													82	106					0	0	1	0	0
RPLP2	6181	broad.mit.edu	37	11	811600	811600	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:811600A>T	ENST00000321153.4	+	3	521	c.127A>T	c.(127-129)Atc>Ttc	p.I43F	RPLP2_ENST00000530797.1_Missense_Mutation_p.I43F|RPLP2_ENST00000532004.1_3'UTR	NM_001004.3	NP_000995.1	P05387	RLA2_HUMAN	ribosomal protein, large, P2	43					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|structural constituent of ribosome			lung(1)	1		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;1.45e-25)|Epithelial(43;1.17e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.76e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCTTCAGGTTATCAGTGAGCT	0.512000													17	49					0	0	1	0	0
KRTAP10-12	386685	broad.mit.edu	37	21	46117155	46117155	+	Silent	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr21:46117155C>T	ENST00000400365.3	+	1	69	c.39C>T	c.(37-39)cgC>cgT	p.R13R	TSPEAR_ENST00000323084.4_Intron	NM_198699.1	NP_941972.1	P60413	KR10C_HUMAN	keratin associated protein 10-12	13						keratin filament				large_intestine(1)|lung(8)	9						ATGGCAGCCGCGTCTGCCTTC	0.662000													36	94					0	0	1	0	0
CLIP2	7461	broad.mit.edu	37	7	73731996	73731996	+	Splice_Site	SNP	A	A	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr7:73731996A>T	ENST00000223398.6	+	2	447	c.121_splice	c.e2+1	p.E40_splice	CLIP2_ENST00000361545.5_Splice_Site_p.E40_splice|CLIP2_ENST00000395060.1_Splice_Site_p.E40_splice	NM_003388.4	NP_003379.3	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	40						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						GCTCCAAGGAAGGTACGTGGC	0.637000													91	96					0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121344423	121344423	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr8:121344423C>G	ENST00000297848.3	+	41	4973	c.4703C>G	c.(4702-4704)cCa>cGa	p.P1568R	COL14A1_ENST00000309791.4_Missense_Mutation_p.P1568R|COL14A1_ENST00000247781.3_Missense_Mutation_p.P1473R	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	1568	Triple-helical region 1 (COL2).				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CCAGGACCACCAGGGCCAATA	0.458000													16	38					0	0	1	0	0
HECW2	57520	broad.mit.edu	37	2	197171285	197171285	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr2:197171285G>A	ENST00000260983.2	-	13	2923	c.2741C>T	c.(2740-2742)aCg>aTg	p.T914M	HECW2_ENST00000409111.1_Missense_Mutation_p.T558M	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	914	Interaction with TP73.				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						TAACAGCAACGTGATCCTGGA	0.517000													17	62					0	0	1	0	0
FOXO4	4303	broad.mit.edu	37	X	70320966	70320966	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:70320966G>T	ENST00000374259.3	+	2	1218	c.886G>T	c.(886-888)Gtc>Ttc	p.V296F	FOXO4_ENST00000341558.3_Missense_Mutation_p.V241F	NM_001170931.1|NM_005938.3	NP_001164402.1|NP_005929.2	P98177	FOXO4_HUMAN	forkhead box O4	296					cell cycle arrest|cell differentiation|embryo development|G1 phase of mitotic cell cycle|insulin receptor signaling pathway|mitotic cell cycle G2/M transition DNA damage checkpoint|muscle organ development|negative regulation of angiogenesis|negative regulation of cell proliferation|negative regulation of smooth muscle cell differentiation|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase 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(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)	18	Renal(35;0.156)					TGCAGGGGGTGTCCCTCCCAC	0.557000											OREG0019856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	19					1.56452e-12	2.05941e-12	1	1	0
BRAF	673	broad.mit.edu	37	7	140549912	140549912	+	Splice_Site	SNP	T	T	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr7:140549912T>C	ENST00000288602.6	-	2	299	c.240_splice	c.e2+1	p.E80_splice		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	80					activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding		SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	AAAGCTTACCTCCAGATATAT	0.323000		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				15	114					0	0	1	0	0
CCR1	1230	broad.mit.edu	37	3	46245366	46245366	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr3:46245366C>T	ENST00000296140.3	-	2	564	c.439G>A	c.(439-441)Gtc>Atc	p.V147I	CCR3_ENST00000357422.2_Intron	NM_001295.2	NP_001286.1	P32246	CCR1_HUMAN	chemokine (C-C motif) receptor 1	147					cell adhesion|cell-cell signaling|cytokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cyclic nucleotide second messenger|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)		CCAAAAGTGACGGTCCGTGCC	0.517000													7	37					0	0	1	0	0
TOX3	27324	broad.mit.edu	37	16	52480024	52480024	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr16:52480024G>A	ENST00000219746.9	-	5	1072	c.788C>T	c.(787-789)gCc>gTc	p.A263V	TOX3_ENST00000407228.3_Missense_Mutation_p.A258V	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	263					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						GAAAAACAGGGCATATGCTGA	0.453000													9	37					0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89383359	89383359	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr15:89383359G>A	ENST00000439576.2	+	4	945	c.571G>A	c.(571-573)Gcc>Acc	p.A191T	ACAN_ENST00000352105.7_Missense_Mutation_p.A191T|ACAN_ENST00000559004.1_Missense_Mutation_p.A191T|ACAN_ENST00000561243.1_Missense_Mutation_p.A191T|ACAN_ENST00000558207.1_Missense_Mutation_p.A191T	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	191					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)			GCTGCAGGCCGCCTACGAAGA	0.637000													4	16					0	0	1	0	0
PLCL1	5334	broad.mit.edu	37	2	198950568	198950568	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr2:198950568C>A	ENST00000428675.1	+	2	2725	c.2327C>A	c.(2326-2328)cCt>cAt	p.P776H	PLCL1_ENST00000437704.2_Missense_Mutation_p.P678H	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	776	C2.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	AGTGATAATCCTATTTTTGAT	0.393000													28	87					1.06801e-11	1.38712e-11	1	1	0
TADA1	117143	broad.mit.edu	37	1	166833074	166833074	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:166833074C>T	ENST00000367874.4	-	4	410	c.317G>A	c.(316-318)cGt>cAt	p.R106H		NM_053053.3	NP_444281.1	Q96BN2	TADA1_HUMAN	transcriptional adaptor 1	106					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	11						AAATTTCTGACGAACAGAAGA	0.393000													7	71					0	0	1	0	0
SLC6A16	28968	broad.mit.edu	37	19	49814298	49814298	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:49814298G>T	ENST00000454748.3	-	2	508	c.307C>A	c.(307-309)Cgt>Agt	p.R103S	SLC6A16_ENST00000335875.4_Missense_Mutation_p.R103S			Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16	103						integral to membrane|intracellular	neurotransmitter:sodium symporter activity			NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		CAGAACGGACGGGCAAGGAGG	0.517000													18	46					6.49762e-13	8.58313e-13	1	1	0
RASSF2	9770	broad.mit.edu	37	20	4771182	4771182	+	Missense_Mutation	SNP	C	C	T	rs145831009	byFrequency	TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr20:4771182C>T	ENST00000379400.3	-	7	647	c.452G>A	c.(451-453)cGc>cAc	p.R151H	RASSF2_ENST00000379376.2_Missense_Mutation_p.R151H|RASSF2_ENST00000478553.1_5'UTR	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN	Ras association (RalGDS/AF-6) domain family member 2	151					cell cycle|signal transduction	nucleus	protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						ATTGCCACGGCGACGCACCCC	0.592000													3	19					0	0	1	0	0
GMPR	2766	broad.mit.edu	37	6	16279043	16279043	+	Silent	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr6:16279043G>A	ENST00000259727.4	+	6	690	c.576G>A	c.(574-576)acG>acA	p.T192T		NM_006877.3	NP_006868.3	P36959	GMPR1_HUMAN	guanosine monophosphate reductase	192					nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage|response to cold	cytosol	GMP reductase activity|metal ion binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	20	Breast(50;0.0427)|Ovarian(93;0.103)	all_hematologic(90;0.0895)				GCACCAAGACGGGAGTGGGGT	0.562000													10	58					0	0	1	0	0
C1orf50	79078	broad.mit.edu	37	1	43233248	43233248	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:43233248G>A	ENST00000372525.5	+	2	191	c.148G>A	c.(148-150)Gcc>Acc	p.A50T	C1orf50_ENST00000536543.1_5'UTR	NM_024097.3	NP_077002.2	Q9BV19	CA050_HUMAN	chromosome 1 open reading frame 50	50										large_intestine(2)|ovary(1)|pancreas(1)	4	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CACCCACCGGGCCGGGGACCC	0.677000													11	20					0	0	1	0	0
GML	2765	broad.mit.edu	37	8	143928001	143928001	+	Silent	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr8:143928001C>A	ENST00000220940.1	+	4	462	c.372C>A	c.(370-372)ccC>ccA	p.P124P		NM_002066.2	NP_002057.1	Q99445	GML_HUMAN	glycosylphosphatidylinositol anchored molecule like	124	UPAR/Ly6.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|negative regulation of cell proliferation	anchored to membrane|extrinsic to membrane|plasma membrane		p.P124P(1)		NS(1)|central_nervous_system(2)|endometrium(1)|large_intestine(6)|lung(8)	18	all_cancers(97;4.26e-11)|all_epithelial(106;1.85e-08)|Lung NSC(106;0.000274)|all_lung(105;0.000755)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					ACATGTTACCCGATGAAGTAA	0.418000													36	53					1.04594e-18	1.51553e-18	1	1	0
GHR	2690	broad.mit.edu	37	5	42711437	42711437	+	Silent	SNP	A	A	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr5:42711437A>C	ENST00000230882.4	+	7	937	c.747A>C	c.(745-747)gtA>gtC	p.V249V	GHR_ENST00000537449.1_Silent_p.V62V|GHR_ENST00000357703.3_Silent_p.V227V	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	249	Fibronectin type-III.				2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TGCTCTATGTAACACTTCCTC	0.368000													33	224					0	0	1	0	0
ACRBP	84519	broad.mit.edu	37	12	6756075	6756075	+	Silent	SNP	C	C	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr12:6756075C>G	ENST00000229243.2	-	2	240	c.147G>C	c.(145-147)ctG>ctC	p.L49L	ACRBP_ENST00000536350.1_Silent_p.L49L|ACRBP_ENST00000414226.2_Silent_p.L49L	NM_032489.2	NP_115878.2	Q8NEB7	ACRBP_HUMAN	acrosin binding protein	49						acrosomal vesicle|extracellular region				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(8)|lung(5)|ovary(1)	17						TTGGAGTCAGCAGTGCGAAGA	0.607000													20	57					0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207176035	207176035	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr2:207176035G>T	ENST00000374423.3	+	5	7169	c.6783G>T	c.(6781-6783)aaG>aaT	p.K2261N		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	2261							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						GGCTAAAGAAGGCGAAGAGAA	0.453000													4	14					2.56e-06	2.90591e-06	1	1	0
CRIPAK	285464	broad.mit.edu	37	4	1388916	1388916	+	Missense_Mutation	SNP	G	G	T	rs71299249		TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr4:1388916G>T	ENST00000324803.4	+	1	3577	c.617G>T	c.(616-618)gGa>gTa	p.G206V		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	206					ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			TGCCGATGTGGAGTGCCTGCC	0.662000													128	354					1.73943e-47	2.817e-47	1	1	0
ZNF487	642819	broad.mit.edu	37	10	43971253	43971253	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr10:43971253A>G	ENST00000431662.1	+	2	187	c.187A>G	c.(187-189)Aga>Gga	p.R63G	ZNF487_ENST00000437590.2_5'UTR																							GACCCCGTACAGAGACATGAT	0.473000													7	26					0	0	1	0	0
ABCA10	10349	broad.mit.edu	37	17	67160237	67160237	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr17:67160237G>A	ENST00000269081.4	-	28	4250	c.3341C>T	c.(3340-3342)aCc>aTc	p.T1114I	ABCA10_ENST00000416101.2_3'UTR|ABCA10_ENST00000519732.1_5'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	1114					transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					TAAAAGAATGGTTTTATTGAC	0.318000													4	40					0	0	1	0	0
FAM91A1	157769	broad.mit.edu	37	8	124810416	124810416	+	Silent	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr8:124810416C>T	ENST00000334705.7	+	16	1744	c.1498C>T	c.(1498-1500)Ctg>Ttg	p.L500L	FAM91A1_ENST00000521166.1_Silent_p.L500L	NM_144963.2	NP_659400.2	Q658Y4	F91A1_HUMAN	family with sequence similarity 91, member A1	500										breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			AAATTACACGCTGCTTGTTTC	0.478000													48	88					0	0	1	0	0
SLC35A4	113829	broad.mit.edu	37	5	139947246	139947246	+	Silent	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr5:139947246C>T	ENST00000514199.1	+	2	2178	c.492C>T	c.(490-492)ccC>ccT	p.P164P	APBB3_ENST00000507279.1_Intron|SLC35A4_ENST00000323146.3_Silent_p.P164P			Q96G79	S35A4_HUMAN	solute carrier family 35, member A4	164	Leu-rich.					Golgi membrane|integral to membrane	sugar:hydrogen symporter activity			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCAAGTTCCCGGGAACACCC	0.652000													12	34					0	0	1	0	0
HIST3H3	8290	broad.mit.edu	37	1	228612632	228612632	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:228612632C>T	ENST00000366696.1	-	1	394	c.395G>A	c.(394-396)cGc>cAc	p.R132H		NM_003493.2	NP_003484.1	Q16695	H31T_HUMAN	histone cluster 3, H3	132					nucleosome assembly|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			large_intestine(1)|lung(2)|prostate(2)|skin(1)	6		Prostate(94;0.0724)				CCGCTCCCCGCGGATACGGCG	0.587000													9	87					0	0	1	0	0
ADAM33	80332	broad.mit.edu	37	20	3653452	3653452	+	Silent	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr20:3653452C>T	ENST00000356518.2	-	12	1468	c.1227G>A	c.(1225-1227)ccG>ccA	p.P409P	ADAM33_ENST00000466620.1_5'UTR|ADAM33_ENST00000350009.2_Silent_p.P409P|ADAM33_ENST00000379861.4_Silent_p.P409P	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	409	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						GTCCGGGGTCCGGGGCATTGG	0.731000													5	18					0	0	1	0	0
ZNF695	57116	broad.mit.edu	37	1	247151520	247151520	+	Silent	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:247151520C>T	ENST00000339986.7	-	4	444	c.297G>A	c.(295-297)gaG>gaA	p.E99E	ZNF695_ENST00000487338.2_Silent_p.E99E|ZNF695_ENST00000498046.2_5'UTR	NM_020394.4	NP_065127.4	Q8IW36	ZN695_HUMAN	zinc finger protein 695	99					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)			GCAGGCCCTGCTCTGGCAAAA	0.358000													13	113					0	0	1	0	0
ADNP2	22850	broad.mit.edu	37	18	77895496	77895496	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr18:77895496G>A	ENST00000262198.4	+	4	2655	c.2200G>A	c.(2200-2202)Gcg>Acg	p.A734T		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	734					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)		AAAACTGGCAGCGTGTGCACC	0.498000													21	132					0	0	1	0	0
BEST1	7439	broad.mit.edu	37	11	61725666	61725666	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:61725666C>T	ENST00000449131.2	+	6	669	c.583C>T	c.(583-585)Cgg>Tgg	p.R195W	BEST1_ENST00000301774.9_Intron|BEST1_ENST00000534553.1_Intron|BEST1_ENST00000378043.4_Missense_Mutation_p.R255W|BEST1_ENST00000526988.1_Missense_Mutation_p.R149W|BEST1_ENST00000435278.2_Intron|BEST1_ENST00000378042.3_Missense_Mutation_p.R195W	NM_001139443.1	NP_001132915.1	O76090	BEST1_HUMAN	bestrophin 1	255			A -> V (in VMD2).		response to stimulus|transepithelial chloride transport|visual perception	basolateral plasma membrane|chloride channel complex|cytosol|membrane fraction	chloride channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|urinary_tract(2)	25						TCTAGTTGGGCGGCAGTTTCT	0.567000													24	64					0	0	1	0	0
UBQLNL	143630	broad.mit.edu	37	11	5536688	5536688	+	Silent	SNP	T	T	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:5536688T>C	ENST00000380184.1	-	1	1247	c.984A>G	c.(982-984)gcA>gcG	p.A328A	HBG2_ENST00000380259.2_Intron	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	328										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)		TGACTCGGGTTGCAGGATGCT	0.507000													7	79					0	0	1	0	0
CRP	1401	broad.mit.edu	37	1	159683599	159683599	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:159683599C>T	ENST00000255030.5	-	2	494	c.391G>A	c.(391-393)Ggg>Agg	p.G131R	CRP_ENST00000437342.1_5'UTR|CRP_ENST00000343919.2_Intron|CRP_ENST00000368111.1_Intron|CRP_ENST00000368110.1_Intron|CRP_ENST00000368112.1_Intron	NM_000567.2	NP_000558.2	P02741	CRP_HUMAN	C-reactive protein, pentraxin-related	131	Pentaxin.				acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization		choline binding|Gram-positive bacterial cell surface binding|low-density lipoprotein particle binding|metal ion binding|protein binding	p.G131W(1)		breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1)	22	all_hematologic(112;0.0429)				Atorvastatin(DB01076)|Bezafibrate(DB01393)	CTGGGCTTCCCATCTACCCAG	0.522000													287	200					0	0	1	0	0
CSF2RB	1439	broad.mit.edu	37	22	37334228	37334228	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr22:37334228T>A	ENST00000262825.5	+	14	2613	c.2396T>A	c.(2395-2397)gTc>gAc	p.V799D	CSF2RB_ENST00000406230.1_Missense_Mutation_p.V799D|CSF2RB_ENST00000403662.3_Missense_Mutation_p.V793D|CSF2RB_ENST00000536485.1_Missense_Mutation_p.V740D	NM_000395.2	NP_000386.1	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	793					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	AAAAGCCCTGTCCTGAACCCA	0.622000													28	109					0	0	1	0	0
ITPR3	3710	broad.mit.edu	37	6	33657961	33657961	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr6:33657961T>C	ENST00000374316.5	+	52	8078	c.7018T>C	c.(7018-7020)Ttc>Ctc	p.F2340L	ITPR3_ENST00000605930.1_Missense_Mutation_p.F2340L			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	2340					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						TCATGAGCTGTTCTACAGCAT	0.592000													9	19					0	0	1	0	0
CNBD1	168975	broad.mit.edu	37	8	87899799	87899799	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr8:87899799G>T	ENST00000518476.1	+	2	169	c.118G>T	c.(118-120)Ggc>Tgc	p.G40C		NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	40										breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						CATTAATTATGGCCAGTTGAA	0.279000													3	7					0.004672	0.00486053	1	1	0
CALCA	796	broad.mit.edu	37	11	14991500	14991500	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:14991500G>T	ENST00000361010.3	-	3	282	c.208C>A	c.(208-210)Caa>Aaa	p.Q70K	CALCA_ENST00000331587.4_Missense_Mutation_p.Q70K|CALCB_ENST00000523376.1_Intron|CALCA_ENST00000486207.1_Missense_Mutation_p.Q70K|CALCA_ENST00000396372.2_Missense_Mutation_p.Q70K|CALCA_ENST00000359642.3_Missense_Mutation_p.Q70K	NM_001033953.2	NP_001029125.1	P06881	CALCA_HUMAN	calcitonin-related polypeptide alpha	70					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)	TCTCTCTCTTGCTCCTGCTCC	0.632000											OREG0020791	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	73					5.61819e-17	8.01628e-17	1	1	0
RAMP2	10266	broad.mit.edu	37	17	40914377	40914377	+	Silent	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr17:40914377G>A	ENST00000253796.5	+	3	236	c.168G>A	c.(166-168)ggG>ggA	p.G56G	RAMP2_ENST00000587142.1_Silent_p.G61G|RAMP2_ENST00000588576.1_Intron|RAMP2_ENST00000589683.1_5'UTR	NM_005854.2	NP_005845.2	O60895	RAMP2_HUMAN	receptor (G protein-coupled) activity modifying protein 2	56					intracellular protein transport|receptor-mediated endocytosis|regulation of G-protein coupled receptor protein signaling pathway	coated pit|integral to plasma membrane|lysosome	protein transporter activity			endometrium(2)|lung(1)|stomach(1)	4		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0741)	Pramlintide(DB01278)	CTACAGGGGGGACGGTGAAGA	0.493000													53	135					0	0	1	0	0
CDH13	1012	broad.mit.edu	37	16	83065758	83065758	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr16:83065758C>A	ENST00000566620.1	+	3	591	c.301C>A	c.(301-303)Ccc>Acc	p.P101T	CDH13_ENST00000428848.3_Missense_Mutation_p.P101T|CDH13_ENST00000431540.3_Missense_Mutation_p.P101T|CDH13_ENST00000446376.2_Missense_Mutation_p.P101T|CDH13_ENST00000569454.1_3'UTR|CDH13_ENST00000565636.1_Missense_Mutation_p.P101T|CDH13_ENST00000268613.10_Missense_Mutation_p.P148T	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	101					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|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|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)		TGCACGGACCCCCCATGCGGA	0.522000													9	9					0.0692343	0.0702363	1	1	0
PKHD1L1	93035	broad.mit.edu	37	8	110452937	110452937	+	Splice_Site	SNP	A	A	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr8:110452937A>G	ENST00000378402.5	+	33	4060		c.e33-1			NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1						immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TTTTTTTCTCAGAGACAAATT	0.348000										HNSCC(38;0.096)			12	62					0	0	1	0	0
SART3	9733	broad.mit.edu	37	12	108941751	108941751	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr12:108941751C>A	ENST00000228284.3	-	3	690	c.456G>T	c.(454-456)tgG>tgT	p.W152C	SART3_ENST00000431469.2_Missense_Mutation_p.W152C|SART3_ENST00000552221.1_5'UTR	NM_014706.3	NP_055521.1	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T cells 3	152					RNA processing	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						CGTCATGCAGCCACTCCAGCC	0.498000									Porokeratosis				9	32					1.58986e-06	1.82314e-06	1	1	0
CYYR1	116159	broad.mit.edu	37	21	27852671	27852671	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr21:27852671C>A	ENST00000299340.4	-	3	597	c.254G>T	c.(253-255)tGc>tTc	p.C85F	AP001597.1_ENST00000357401.3_RNA|AP001597.1_ENST00000414486.1_RNA|CYYR1_ENST00000400043.3_Missense_Mutation_p.C85F|CYYR1_ENST00000435845.2_3'UTR	NM_052954.2	NP_443186.1	Q96J86	CYYR1_HUMAN	cysteine/tyrosine-rich 1	85						integral to membrane				large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	15						CATGCACATGCAGATGCATAT	0.488000													44	52					3.05275e-18	4.40342e-18	1	1	0
AKAP6	9472	broad.mit.edu	37	14	33201884	33201884	+	Silent	SNP	T	T	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr14:33201884T>C	ENST00000557354.1	+	10	3324	c.3225T>C	c.(3223-3225)atT>atC	p.I1075I	AKAP6_ENST00000557272.1_Intron|AKAP6_ENST00000280979.4_Intron			Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	0					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		GATTTCTAATTTGAGGCACAA	0.353000													4	32					0	0	1	0	0
TECTA	7007	broad.mit.edu	37	11	121000390	121000390	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:121000390G>T	ENST00000392793.1	+	10	2682	c.2411G>T	c.(2410-2412)gGg>gTg	p.G804V	TECTA_ENST00000264037.2_Missense_Mutation_p.G804V			O75443	TECTA_HUMAN	tectorin alpha	804	VWFD 2.				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)		CATCCTTCGGGGAAGCTGGAA	0.438000													68	153					2.84776e-26	4.37501e-26	1	1	0
ATP10D	57205	broad.mit.edu	37	4	47560211	47560211	+	Silent	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr4:47560211C>T	ENST00000273859.3	+	12	2624	c.2355C>T	c.(2353-2355)caC>caT	p.H785H	AC092597.3_ENST00000508081.1_RNA	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	785					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						TGGTCCGACACCCTCTTTCCA	0.443000													25	99					0	0	1	0	0
KAT5	10524	broad.mit.edu	37	11	65482089	65482089	+	Silent	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:65482089C>A	ENST00000341318.4	+	7	1048	c.814C>A	c.(814-816)Cgg>Agg	p.R272R	KAT5_ENST00000530446.1_Silent_p.R220R|KAT5_ENST00000534650.1_Silent_p.R28R|KAT5_ENST00000377046.3_Silent_p.R239R|KAT5_ENST00000352980.4_Silent_p.R187R	NM_182710.2	NP_874369.1	Q92993	KAT5_HUMAN	K(lysine) acetyltransferase 5	239					androgen receptor signaling pathway|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|double-strand break repair|interspecies interaction between organisms|negative regulation of interleukin-2 production|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nucleolus|perinuclear region of cytoplasm|Piccolo NuA4 histone acetyltransferase complex	androgen receptor binding|histone acetyltransferase activity|metal ion binding|repressing transcription factor binding|transcription coactivator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)	21						TGAGCTGGGCCGGCACCGCCT	0.582000													26	103					7.92952e-12	1.03167e-11	1	1	0
TTN	7273	broad.mit.edu	37	2	179647602	179647602	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr2:179647602C>A	ENST00000589042.1	-	18	3255	c.3031G>T	c.(3031-3033)Ggg>Tgg	p.G1011W	TTN_ENST00000591111.1_Missense_Mutation_p.G1011W|TTN_ENST00000359218.5_Missense_Mutation_p.G965W|TTN_ENST00000360870.5_Missense_Mutation_p.G1011W|TTN_ENST00000342175.6_Missense_Mutation_p.G965W|TTN_ENST00000342992.6_Missense_Mutation_p.G1011W|TTN_ENST00000460472.2_Missense_Mutation_p.G965W	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1011	Ig-like 3.						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)			GTAAATCGCCCGCTGTCTTCC	0.507000													19	47					8.34094e-07	9.62878e-07	1	1	0
MAPK7	5598	broad.mit.edu	37	17	19284396	19284396	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr17:19284396G>T	ENST00000308406.5	+	4	1260	c.874G>T	c.(874-876)Gag>Tag	p.E292*	MAPK7_ENST00000299612.7_Nonsense_Mutation_p.E153*|MAPK7_ENST00000571657.1_Intron|MAPK7_ENST00000395602.4_Nonsense_Mutation_p.E292*|MAPK7_ENST00000395604.3_Nonsense_Mutation_p.E292*	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7	292	Necessary for oligomerization (By similarity).|Protein kinase.				cell cycle|cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					TGTGGGGGCTGAGAGGGTGCG	0.617000													18	41					6.94344e-10	8.6523e-10	1	1	0
PTPN2	5771	broad.mit.edu	37	18	12817224	12817224	+	Silent	SNP	C	C	T	rs141927482	byFrequency	TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr18:12817224C>T	ENST00000309660.5	-	6	729	c.636G>A	c.(634-636)gcG>gcA	p.A212A	PTPN2_ENST00000591115.1_Silent_p.A235A|PTPN2_ENST00000353319.4_Silent_p.A212A|PTPN2_ENST00000591497.1_Silent_p.A183A|PTPN2_ENST00000327283.3_Silent_p.A212A	NM_002828.3	NP_002819.2	P17706	PTN2_HUMAN	protein tyrosine phosphatase, non-receptor type 2	212	Tyrosine-protein phosphatase.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway	endoplasmic reticulum|nucleoplasm	protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)|skin(3)	13		Lung NSC(161;8.94e-06)				AGTGGATCACCGCAGGCCCAT	0.473000													42	56					0	0	1	0	0
DRD1	1812	broad.mit.edu	37	5	174869841	174869841	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr5:174869841C>A	ENST00000393752.2	-	2	1254	c.262G>T	c.(262-264)Ggc>Tgc	p.G88C		NM_000794.3	NP_000785.1	P21728	DRD1_HUMAN	dopamine receptor D1	88					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)	GGCCAGAAGCCAGCAATCTCA	0.552000													20	27					1.15919e-05	1.2942e-05	1	1	0
SLC6A13	6540	broad.mit.edu	37	12	335607	335607	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr12:335607C>A	ENST00000343164.4	-	9	1061	c.1009G>T	c.(1009-1011)Ggc>Tgc	p.G337C	SLC6A13_ENST00000445055.2_Missense_Mutation_p.G245C	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	337					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)			GACATGAAGCCCAGGATGGAG	0.622000													15	43					0.000308642	0.000330131	1	1	0
SH2D1B	117157	broad.mit.edu	37	1	162381712	162381712	+	Missense_Mutation	SNP	T	T	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:162381712T>G	ENST00000367929.2	-	1	204	c.95A>C	c.(94-96)gAc>gCc	p.D32A	SH2D1B_ENST00000493550.1_5'UTR|SH2D1B_ENST00000359567.3_Missense_Mutation_p.D32A	NM_053282.4	NP_444512.2	O14796	SH21B_HUMAN	SH2 domain containing 1B	32	SH2.							p.D32G(1)		kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			CGACTCGCTGTCTCTTAAAAG	0.507000													20	71					0	0	1	0	0
MPO	4353	broad.mit.edu	37	17	56355399	56355399	+	Silent	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr17:56355399G>A	ENST00000340482.3	-	6	1265	c.1089C>T	c.(1087-1089)aaC>aaT	p.N363N	MPO_ENST00000225275.3_Silent_p.N331N|MPO_ENST00000578493.1_5'UTR			P05164	PERM_HUMAN	myeloperoxidase	331					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)	AAGTGAGCGCGTTGATCTGGT	0.642000													28	85					0	0	1	0	0
FBXW10	10517	broad.mit.edu	37	17	18681912	18681912	+	Silent	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr17:18681912C>T	ENST00000308799.4	+	12	2706	c.2487C>T	c.(2485-2487)agC>agT	p.S829S	FBXW10_ENST00000301938.4_Silent_p.S767S|FBXW10_ENST00000395665.4_Silent_p.S820S|FBXW10_ENST00000395667.1_Silent_p.S819S			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	820										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						TGACTGTTAGCGCCCTGCAGC	0.478000													7	38					0	0	1	0	0
PANX3	116337	broad.mit.edu	37	11	124481559	124481559	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:124481559G>C	ENST00000284288.2	+	1	174	c.107G>C	c.(106-108)cGg>cCg	p.R36P		NM_052959.2	NP_443191.1	Q96QZ0	PANX3_HUMAN	pannexin 3	36					protein hexamerization	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity	p.R36Q(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)		CCCCTGGACCGGATAGTCAAG	0.597000													17	67					0	0	1	0	0
PPP6R1	22870	broad.mit.edu	37	19	55750845	55750845	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:55750845C>T	ENST00000412770.2	-	15	2245	c.1679G>A	c.(1678-1680)cGc>cAc	p.R560H	PPP6R1_ENST00000587283.1_Missense_Mutation_p.R560H	NM_014931.3	NP_055746.3	Q9UPN7	PP6R1_HUMAN	protein phosphatase 6, regulatory subunit 1	560					regulation of phosphoprotein phosphatase activity	cytoplasm	protein phosphatase binding			breast(1)	1						AGAGGTCATGCGCTGCATCTG	0.602000													13	28					0	0	1	0	0
RIOK3	8780	broad.mit.edu	37	18	21059325	21059325	+	Silent	SNP	A	A	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr18:21059325A>G	ENST00000339486.3	+	12	2006	c.1389A>G	c.(1387-1389)gaA>gaG	p.E463E	RIOK3_ENST00000577501.1_Silent_p.E460E|RIOK3_ENST00000581585.1_Silent_p.E447E	NM_003831.3	NP_003822.2	O14730	RIOK3_HUMAN	RIO kinase 3	463	Protein kinase.				chromosome segregation		ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(2)	10	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GTGAACGAGAACTCTTCAATG	0.373000													5	47					0	0	1	0	0
AMY1C	278	broad.mit.edu	37	1	104297223	104297223	+	Silent	SNP	A	A	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:104297223A>T	ENST00000370079.3	+	6	1045	c.981A>T	c.(979-981)atA>atT	p.I327I		NM_001008219.1	NP_001008220.1	P04745	AMY1_HUMAN	amylase, alpha 1C (salivary)	327					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding|protein binding			lung(5)|skin(3)	8		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)		GAGCCTCTATACTTACCTTCT	0.403000													10	640					0	0	1	0	0
TFAP2D	83741	broad.mit.edu	37	6	50686841	50686841	+	Silent	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr6:50686841C>A	ENST00000008391.3	+	3	804	c.576C>A	c.(574-576)ggC>ggA	p.G192G	TFAP2D_ENST00000492804.1_3'UTR	NM_172238.3	NP_758438.2	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 delta (activating enhancer binding protein 2 delta)	192							DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					TTCTCAATGGCCAAGGTGGAG	0.398000													6	18					0.00116845	0.00122986	1	1	0
TRIM50	135892	broad.mit.edu	37	7	72734169	72734169	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr7:72734169C>A	ENST00000333149.2	-	3	672	c.472G>T	c.(472-474)Gtg>Ttg	p.V158L	TRIM50_ENST00000453152.1_Missense_Mutation_p.V158L	NM_178125.2	NP_835226.1	Q86XT4	TRI50_HUMAN	tripartite motif containing 50	158						cytoplasm|intracellular membrane-bounded organelle	ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)	20						CGGTTGTTCACCAGTTTGGCG	0.587000													82	113					2.3666e-43	3.81891e-43	1	1	0
SPDYC	387778	broad.mit.edu	37	11	64938899	64938899	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:64938899G>T	ENST00000377185.2	+	2	210	c.128G>T	c.(127-129)cGg>cTg	p.R43L		NM_001008778.1	NP_001008778.1	Q5MJ68	SPDYC_HUMAN	speedy/RINGO cell cycle regulator family member C	43					cell cycle	nucleus	protein kinase binding			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)	16						GGCTGCAGCCGGCAAGGTGGG	0.627000													24	56					4.26978e-12	5.57457e-12	1	1	0
FGF2	2247	broad.mit.edu	37	4	123748452	123748452	+	Silent	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr4:123748452G>T	ENST00000264498.3	+	1	590	c.522G>T	c.(520-522)ctG>ctT	p.L174L		NM_002006.4	NP_001997.5	P09038	FGF2_HUMAN	fibroblast growth factor 2 (basic)	174					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 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 ERK1 and ERK2 cascade|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of phospholipase C activity|Ras protein signal transduction|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)	GCTTCTTCCTGCGCATCCACC	0.672000													8	36					0.000274275	0.000293932	1	1	0
KIF1C	10749	broad.mit.edu	37	17	4923972	4923972	+	Splice_Site	SNP	A	A	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr17:4923972A>T	ENST00000320785.5	+	20	2293	c.1937_splice	c.e20+1	p.R646_splice	KIF1C_ENST00000573815.1_3'UTR	NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	646					microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	endoplasmic reticulum|Golgi apparatus|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						AATGGAGAAGAGGTGCGAGGG	0.622000													15	13					0	0	1	0	0
WSCD2	9671	broad.mit.edu	37	12	108620802	108620802	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr12:108620802C>G	ENST00000332082.4	+	7	1658	c.840C>G	c.(838-840)tgC>tgG	p.C280W	WSCD2_ENST00000261400.3_Missense_Mutation_p.C280W|WSCD2_ENST00000547525.1_Missense_Mutation_p.C280W|WSCD2_ENST00000549903.1_Missense_Mutation_p.C280W			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	280	WSC 2.					integral to membrane				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						GCACCGCCTGCCACTGTGGGT	0.597000													22	49					0	0	1	0	0
SLCO4A1	28231	broad.mit.edu	37	20	61288434	61288434	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr20:61288434G>A	ENST00000217159.1	+	2	833	c.628G>A	c.(628-630)Gcc>Acc	p.A210T	SLCO4A1_ENST00000370507.1_Missense_Mutation_p.A210T	NM_016354.3	NP_057438.3	Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family, member 4A1	210					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)			GACGTGCCCTGCCAACCCCGG	0.682000													6	22					0	0	1	0	0
DKK2	27123	broad.mit.edu	37	4	107956660	107956660	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr4:107956660C>G	ENST00000285311.3	-	1	794	c.89G>C	c.(88-90)aGt>aCt	p.S30T	DKK2_ENST00000510463.1_Intron|DKK2_ENST00000513208.1_Intron	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	30					multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		GGCCCGCGAACTGCCGATCTG	0.632000													35	115					0	0	1	0	0
LYST	1130	broad.mit.edu	37	1	235866047	235866047	+	Splice_Site	SNP	C	C	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:235866047C>G	ENST00000389794.3	-	45	10548	c.10374_splice	c.e45+1	p.P3458_splice	LYST_ENST00000473037.1_5'UTR|LYST_ENST00000389793.2_Splice_Site_p.P3458_splice			Q99698	LYST_HUMAN	lysosomal trafficking regulator	3458					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			AATGACATACCGGATAGGTGA	0.483000													28	89					0	0	1	0	0
LIPG	9388	broad.mit.edu	37	18	47101831	47101831	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr18:47101831T>C	ENST00000261292.4	+	5	942	c.664T>C	c.(664-666)Tac>Cac	p.Y222H	LIPG_ENST00000580036.1_Missense_Mutation_p.Y222H|LIPG_ENST00000427224.2_Intron|LIPG_ENST00000577628.1_Missense_Mutation_p.Y258H	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial	222					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						CCTCCACACCTACACGCGTTC	0.562000													11	66					0	0	1	0	0
SOGA2	23255	broad.mit.edu	37	18	8824793	8824793	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr18:8824793G>T	ENST00000359865.3	+	15	3427	c.3285G>T	c.(3283-3285)gaG>gaT	p.E1095D	SOGA2_ENST00000400050.3_Missense_Mutation_p.E1054D|SOGA2_ENST00000517570.1_Missense_Mutation_p.E1054D|SOGA2_ENST00000518815.1_Missense_Mutation_p.E420D|SOGA2_ENST00000306285.7_Missense_Mutation_p.E420D|SOGA2_ENST00000306329.11_Missense_Mutation_p.E1414D	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN	SOGA family member 2	1405																	GCAGCAAGGAGGATGTCACCC	0.607000													5	86					0.000602214	0.000639568	1	1	0
DLG2	1740	broad.mit.edu	37	11	83641488	83641488	+	Translation_Start_Site	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:83641488C>T	ENST00000376106.3	-	0	897				DLG2_ENST00000398309.2_Missense_Mutation_p.C355Y|DLG2_ENST00000543673.1_Missense_Mutation_p.C460Y|DLG2_ENST00000537455.1_Missense_Mutation_p.C109Y|DLG2_ENST00000376104.2_Missense_Mutation_p.C460Y|DLG2_ENST00000398301.2_Missense_Mutation_p.C394Y|DLG2_ENST00000524982.1_Missense_Mutation_p.C355Y|DLG2_ENST00000280241.8_Missense_Mutation_p.C394Y|DLG2_ENST00000418306.2_Intron|DLG2_ENST00000532653.1_Missense_Mutation_p.C355Y|DLG2_ENST00000330014.6_Missense_Mutation_p.C294Y|DLG2_ENST00000531015.1_Missense_Mutation_p.C322Y			Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)							cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				AGGCTTATCACATAGTTTGTT	0.488000													37	110					0	0	1	0	0
MSL3	10943	broad.mit.edu	37	X	11781090	11781090	+	Silent	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:11781090C>T	ENST00000337339.2	+	7	750	c.723C>T	c.(721-723)aaC>aaT	p.N241N	MSL3_ENST00000361672.2_Silent_p.N92N|MSL3_ENST00000380693.3_Silent_p.N75N|MSL3_ENST00000312196.4_Silent_p.N241N|MSL3_ENST00000398527.2_Silent_p.N229N	NM_078628.1	NP_523352.1	Q8N5Y2	MS3L1_HUMAN	male-specific lethal 3 homolog (Drosophila)	241					histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter	MSL complex	DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	19						CCAACATGAACGTGCATTATA	0.443000													6	45					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	30936591	30936591	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:30936591G>T	ENST00000355537.3	+	2	2269	c.2122G>T	c.(2122-2124)Ggg>Tgg	p.G708W		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	708					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.G708W(1)		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)					CTCCCAGACCGGGAGTGCCCA	0.677000													15	32					2.32078e-09	2.86018e-09	1	1	0
MIEF1	54471	broad.mit.edu	37	22	39908302	39908302	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr22:39908302C>T	ENST00000325301.2	+	5	812	c.388C>T	c.(388-390)Cga>Tga	p.R130*	SMCR7L_ENST00000404569.1_Nonsense_Mutation_p.R130*|SMCR7L_ENST00000402881.1_Nonsense_Mutation_p.R130*	NM_019008.4	NP_061881.2	Q9NQG6	SMC7L_HUMAN		130						integral to membrane|mitochondrion				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)	16	Melanoma(58;0.04)					GAAGAAGTCACGACTCCGCAT	0.602000													8	78					0	0	1	0	0
ZNF732	654254	broad.mit.edu	37	4	289822	289822	+	Silent	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr4:289822G>A	ENST00000419098.1	-	2	136	c.126C>T	c.(124-126)tcC>tcT	p.S42S		NM_001137608.1	NP_001131080.1	B4DXR9	ZN732_HUMAN	zinc finger protein 732	42	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(2)	3						CCTCACCCAGGGAGATCAGGT	0.423000													8	51					0	0	1	0	0
LDB2	9079	broad.mit.edu	37	4	16587547	16587547	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr4:16587547T>A	ENST00000502640.1	-	5	761	c.613A>T	c.(613-615)Agg>Tgg	p.R205W	LDB2_ENST00000503178.2_Missense_Mutation_p.R81W|LDB2_ENST00000304523.5_Missense_Mutation_p.R205W|LDB2_ENST00000515064.1_Missense_Mutation_p.R205W|LDB2_ENST00000441778.2_Missense_Mutation_p.R205W			O43679	LDB2_HUMAN	LIM domain binding 2	205							LIM domain binding|transcription cofactor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						GATCTTACCCTGAGGTAGTTG	0.408000													22	56					0	0	1	0	0
LEPR	3953	broad.mit.edu	37	1	66088638	66088638	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:66088638T>A	ENST00000349533.6	+	19	2832	c.2647T>A	c.(2647-2649)Tgg>Agg	p.W883R	LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371058.1_Missense_Mutation_p.W883R|LEPR_ENST00000344610.8_Missense_Mutation_p.W883R|LEPR_ENST00000371060.3_Missense_Mutation_p.W883R|LEPR_ENST00000371059.3_Missense_Mutation_p.W883R	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	883					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)		GAATTGTTCCTGGGCACAAGG	0.343000													12	27					0	0	1	0	0
VRK3	51231	broad.mit.edu	37	19	50496116	50496116	+	Splice_Site	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:50496116C>A	ENST00000599538.1	-	10	1628		c.e10+1		VRK3_ENST00000377011.2_Splice_Site|VRK3_ENST00000316763.3_Splice_Site|VRK3_ENST00000443401.2_Splice_Site|VRK3_ENST00000601341.1_Splice_Site|VRK3_ENST00000593919.1_Splice_Site|VRK3_ENST00000594092.1_Splice_Site|VRK3_ENST00000424804.2_Splice_Site|VRK3_ENST00000601912.1_Splice_Site|VRK3_ENST00000594948.1_Splice_Site			Q8IV63	VRK3_HUMAN	vaccinia related kinase 3							nucleus	ATP binding|protein kinase activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1)	23		all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)		CTGGCTCTTACCTGACTCTGG	0.473000													37	91					1.57019e-19	2.30494e-19	1	1	0
DPPA3	359787	broad.mit.edu	37	12	7864237	7864237	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr12:7864237G>T	ENST00000345088.2	+	1	188	c.71G>T	c.(70-72)cGg>cTg	p.R24L		NM_199286.2	NP_954980.1	Q6W0C5	DPPA3_HUMAN	developmental pluripotency associated 3	24						cytoplasm|nucleus				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)	8				Kidney(36;0.0887)		GAAAATTCCCGGGACGATTCA	0.458000													14	23					4.3838e-07	5.10798e-07	1	1	0
SOX10	6663	broad.mit.edu	37	22	38374019	38374019	+	Silent	SNP	G	G	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr22:38374019G>C	ENST00000396884.2	-	3	834	c.552C>G	c.(550-552)gcC>gcG	p.A184A	POLR2F_ENST00000407936.1_Intron|POLR2F_ENST00000405557.1_Intron|SOX10_ENST00000360880.2_Silent_p.A184A	NM_006941.3	NP_008872.1	P56693	SOX10_HUMAN	SRY (sex determining region Y)-box 10	184						cytoplasm|nucleus	DNA binding|identical protein binding|transcription coactivator activity			NS(6)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|skin(2)	20	Melanoma(58;0.045)					CCTCGCCCTGGGCGGCCTTCC	0.687000													22	17					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237586416	237586416	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:237586416G>T	ENST00000366574.2	+	12	1190	c.873G>T	c.(871-873)tgG>tgT	p.W291C	RYR2_ENST00000360064.6_Missense_Mutation_p.W289C|RYR2_ENST00000542537.1_Missense_Mutation_p.W275C	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	291	MIR 4.				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)			ACATAAGATGGGGACAGCCAT	0.423000													33	138					2.87052e-16	4.05197e-16	1	1	0
TEP1	7011	broad.mit.edu	37	14	20852648	20852648	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr14:20852648C>T	ENST00000262715.5	-	23	3281	c.3241G>A	c.(3241-3243)Ggt>Agt	p.G1081S	TEP1_ENST00000556935.1_Missense_Mutation_p.G973S	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1081					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)		GCTGCCACACCCCCCCACTCA	0.587000													5	281					0	0	1	0	0
MFSD8	256471	broad.mit.edu	37	4	128870977	128870977	+	Silent	SNP	T	T	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr4:128870977T>A	ENST00000296468.3	-	4	307	c.180A>T	c.(178-180)atA>atT	p.I60I	MFSD8_ENST00000541133.1_Silent_p.I15I|MFSD8_ENST00000515130.1_5'UTR|MFSD8_ENST00000513559.1_Silent_p.I15I	NM_152778.2	NP_689991.1	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing 8	60					cell death|transmembrane transport	integral to membrane|lysosomal membrane				cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						GATATGGCCATATGGACATCA	0.313000													45	97					0	0	1	0	0
LVRN	206338	broad.mit.edu	37	5	115298832	115298832	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr5:115298832G>T	ENST00000357872.4	+	1	642	c.518G>T	c.(517-519)cGc>cTc	p.R173L	AQPEP_ENST00000395528.2_5'UTR	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		173					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding										ACAGTGGGCCGCGTGCCCGTG	0.657000													9	22					0.00448238	0.00467627	1	1	0
HTR2A	3356	broad.mit.edu	37	13	47409048	47409048	+	Missense_Mutation	SNP	G	G	A	rs6308	byFrequency	TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr13:47409048G>A	ENST00000378688.4	-	3	1471	c.1340C>T	c.(1339-1341)gCt>gTt	p.A447V	HTR2A_ENST00000543956.1_Missense_Mutation_p.A363V|HTR2A_ENST00000542664.1_Missense_Mutation_p.A447V			P28223	5HT2A_HUMAN	5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	447			A -> V (in dbSNP:rs6308).		ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	integral to plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	CTTTCCTAGAGCAACCATTGA	0.443000													51	60					0	0	1	0	0
SERPINB7	8710	broad.mit.edu	37	18	61460403	61460403	+	Silent	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr18:61460403C>T	ENST00000398019.2	+	4	553	c.228C>T	c.(226-228)ctC>ctT	p.L76L	SERPINB7_ENST00000540675.1_Silent_p.L59L|SERPINB7_ENST00000336429.2_Silent_p.L76L|SERPINB7_ENST00000546027.1_Silent_p.L76L	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	76					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				AGTCAGGGCTCCAGTCTCAAC	0.323000													8	14					0	0	1	0	0
SGSM2	9905	broad.mit.edu	37	17	2278921	2278921	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr17:2278921G>A	ENST00000268989.3	+	18	2413	c.2236G>A	c.(2236-2238)Gac>Aac	p.D746N	SGSM2_ENST00000574563.1_Missense_Mutation_p.D701N|RP1-59D14.5_ENST00000574290.1_RNA|SGSM2_ENST00000426855.2_Missense_Mutation_p.D701N	NM_014853.2	NP_055668.2	O43147	SGSM2_HUMAN	small G protein signaling modulator 2	701	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		CGTGGAGTTCGACTCTCCAGA	0.622000													14	46					0	0	1	0	0
CA9	768	broad.mit.edu	37	9	35674171	35674171	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr9:35674171C>A	ENST00000378357.4	+	1	319	c.215C>A	c.(214-216)cCc>cAc	p.P72H		NM_001216.2	NP_001207.2	Q16790	CAH9_HUMAN	carbonic anhydrase IX	72	Proteoglycan-like (PG).				one-carbon metabolic process	integral to membrane|microvillus membrane|nucleolus	carbonate dehydratase activity|zinc ion binding			kidney(1)|large_intestine(3)|lung(5)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	17	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GAGGATTCACCCAGAGAGGAG	0.567000													5	26					0.0215528	0.0220241	1	1	0
HAVCR2	84868	broad.mit.edu	37	5	156514117	156514117	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr5:156514117G>T	ENST00000307851.4	-	7	1632	c.902C>A	c.(901-903)cCa>cAa	p.P301Q	HAVCR2_ENST00000522593.1_Missense_Mutation_p.P273Q	NM_032782.4	NP_116171.3	Q8TDQ0	HAVR2_HUMAN	hepatitis A virus cellular receptor 2	301						integral to membrane				cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTGGATCTATGGCATTGCAAA	0.448000													13	14					2.32078e-09	2.86018e-09	1	1	0
PLD5	200150	broad.mit.edu	37	1	242264057	242264057	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:242264057C>A	ENST00000442594.2	-	10	1500	c.991G>T	c.(991-993)Gct>Tct	p.A331S	PLD5_ENST00000536534.1_Missense_Mutation_p.A423S|PLD5_ENST00000427495.1_Missense_Mutation_p.A361S	NM_152666.2	NP_689879.2	Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	423						integral to membrane	catalytic activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			GTAGCACAAGCATTCTCTCTT	0.388000													11	50					3.07112e-06	3.47729e-06	1	1	0
SMARCB1	6598	broad.mit.edu	37	22	24145517	24145517	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr22:24145517A>G	ENST00000344921.6	+	5	770	c.563A>G	c.(562-564)aAc>aGc	p.N188S	SMARCB1_ENST00000263121.7_Missense_Mutation_p.N179S|SMARCB1_ENST00000407422.3_Missense_Mutation_p.N170S|SMARCB1_ENST00000407082.3_Missense_Mutation_p.N133S			Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1	179	2 X approximate tandem repeats.|HIV-1 integrase-binding.|MYC-binding.				cell cycle|chromatin remodeling|DNA integration|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleolus|nucleoplasm|SWI/SNF complex	p53 binding	p.?(6)		bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				ATCCATGAGAACGCATCTCAG	0.552000			"""D, N, F, S"""		malignant rhabdoid	malignant rhabdoid							26	208					0	0	1	0	0
FCER1A	2205	broad.mit.edu	37	1	159272168	159272168	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:159272168T>A	ENST00000368115.1	+	2	113	c.14T>A	c.(13-15)aTg>aAg	p.M5K	FCER1A_ENST00000368114.1_Missense_Mutation_p.M5K	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	5						integral to plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	GCTCCTGCCATGGAATCCCCT	0.468000													65	212					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	39023341	39023341	+	Missense_Mutation	SNP	G	G	A	rs145499779		TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:39023341G>A	ENST00000355481.4	+	77	11340	c.11209G>A	c.(11209-11211)Ggt>Agt	p.G3737S	RYR1_ENST00000360985.3_Missense_Mutation_p.G3742S|RYR1_ENST00000359596.3_Missense_Mutation_p.G3742S	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3742					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|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)	AGGGGAGAACGGTGAAGCTGA	0.602000													15	43					0	0	1	0	0
TFB2M	64216	broad.mit.edu	37	1	246704449	246704449	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:246704449C>A	ENST00000366514.4	-	8	1260	c.1075G>T	c.(1075-1077)Gat>Tat	p.D359Y		NM_022366.2	NP_071761.1	Q9H5Q4	TFB2M_HUMAN	transcription factor B2, mitochondrial	359					positive regulation of transcription, DNA-dependent|transcription initiation from mitochondrial promoter	mitochondrial nucleoid	protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity|transcription cofactor activity	p.D359N(1)		breast(1)|endometrium(1)|kidney(12)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(71;4.25e-05)|all_epithelial(71;4.92e-06)|Ovarian(71;0.0254)|all_lung(81;0.0272)|Breast(184;0.0318)|Lung NSC(105;0.0376)		OV - Ovarian serous cystadenocarcinoma(106;0.00358)			ACTTTCTCATCCTCCTGTTTT	0.348000													12	33					1.61879e-10	2.04676e-10	1	1	0
ICAM5	7087	broad.mit.edu	37	19	10403740	10403740	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:10403740C>T	ENST00000221980.4	+	6	1346	c.1283C>T	c.(1282-1284)aCg>aTg	p.T428M		NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5, telencephalin	428	Ig-like C2-type 5.				cell-cell adhesion	integral to plasma membrane				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			CCAGAGCAGACGCTGCGCTGC	0.701000													16	102					0	0	1	0	0
EXT2	2132	broad.mit.edu	37	11	44129708	44129708	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:44129708G>T	ENST00000395673.3	+	2	601	c.545G>T	c.(544-546)cGg>cTg	p.R182L	EXT2_ENST00000529186.1_3'UTR|EXT2_ENST00000343631.3_Missense_Mutation_p.R149L|EXT2_ENST00000533608.1_Missense_Mutation_p.R149L|EXT2_ENST00000358681.4_Missense_Mutation_p.R149L	NM_000401.3	NP_000392.3	Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	149					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						GACATCAACCGGGCCTGTCTG	0.512000			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Hereditary Multiple Exostoses				14	41					5.01169e-05	5.49156e-05	1	1	0
MBNL2	10150	broad.mit.edu	37	13	97999159	97999159	+	Silent	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr13:97999159C>T	ENST00000345429.6	+	5	1423	c.642C>T	c.(640-642)acC>acT	p.T214T	MBNL2_ENST00000343600.4_Silent_p.T214T|MBNL2_ENST00000376673.3_Silent_p.T214T|MBNL2_ENST00000445661.2_Intron|MBNL2_ENST00000397601.1_Silent_p.T214T	NM_144778.3	NP_659002.1	Q5VZF2	MBNL2_HUMAN	muscleblind-like splicing regulator 2	214					mRNA processing|regulation of RNA splicing|RNA splicing	cytoplasm|nucleus	RNA binding|zinc ion binding			endometrium(4)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.218)			GTGACAACACCGTAACCGTTT	0.527000													6	144					0	0	1	0	0
SPATS2	65244	broad.mit.edu	37	12	49916602	49916602	+	Silent	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr12:49916602G>A	ENST00000553127.1	+	13	1590	c.1077G>A	c.(1075-1077)gaG>gaA	p.E359E	SPATS2_ENST00000321898.6_Silent_p.E359E|SPATS2_ENST00000552918.1_Silent_p.E359E			Q86XZ4	SPAS2_HUMAN	spermatogenesis associated, serine-rich 2	359						cytoplasm				breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|prostate(1)|urinary_tract(4)	21						GTGATGTAGAGACCCTAAAGA	0.458000													10	41					0	0	1	0	0
OR8K1	390157	broad.mit.edu	37	11	56113767	56113767	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:56113767C>A	ENST00000279783.2	+	1	347	c.253C>A	c.(253-255)Ccg>Acg	p.P85T		NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K, member 1	85					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					TGTCATTGCCCCGAAGATGTT	0.403000										HNSCC(65;0.19)			32	99					9.17885e-22	1.37254e-21	1	1	0
SPATA31C1	441452	broad.mit.edu	37	9	90535252	90535252	+	RNA	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr9:90535252G>T	ENST00000602681.1	+	0	1156																											AAGAACACCTGATGGAGCCTC	0.577000													48	127					2.81731e-22	4.22973e-22	1	1	0
ALMS1	7840	broad.mit.edu	37	2	73677495	73677495	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr2:73677495G>T	ENST00000264448.6	+	8	3949	c.3838G>T	c.(3838-3840)Gta>Tta	p.V1280L	ALMS1_ENST00000377715.1_Missense_Mutation_p.V1280L|ALMS1_ENST00000409009.1_Missense_Mutation_p.V1238L	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1280	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						CACACCAGCTGTAACCTCTAC	0.438000													45	93					7.88023e-25	1.20404e-24	1	1	0
OR51Q1	390061	broad.mit.edu	37	11	5443456	5443456	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:5443456A>T	ENST00000300778.4	+	1	116	c.26A>T	c.(25-27)cAa>cTa	p.Q9L	HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	9					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)		AACACCACACAAGAAGGCATC	0.458000													43	101					0	0	1	0	0
GALNT2	2590	broad.mit.edu	37	1	230381893	230381893	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:230381893G>T	ENST00000366672.4	+	8	886	c.814G>T	c.(814-816)Ggc>Tgc	p.G272C	GALNT2_ENST00000543760.1_Missense_Mutation_p.G234C|GALNT2_ENST00000541865.1_Missense_Mutation_p.G182C	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)	272					immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				TGACTTGAAGGGCGGTAGGTG	0.507000													8	86					0.000157383	0.000170454	1	1	0
FBXW12	285231	broad.mit.edu	37	3	48423486	48423486	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr3:48423486C>A	ENST00000296438.5	+	10	1392	c.1206C>A	c.(1204-1206)caC>caA	p.H402Q	FBXW12_ENST00000445170.1_Missense_Mutation_p.H383Q|FBXW12_ENST00000436231.1_Missense_Mutation_p.H245Q|FBXW12_ENST00000415155.1_Missense_Mutation_p.H332Q|FBXW12_ENST00000468158.1_3'UTR	NM_207102.2	NP_996985.2	Q6X9E4	FBW12_HUMAN	F-box and WD repeat domain containing 12	402										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)		ACTCTGTGCACGTGTACATGT	0.517000													31	45					7.11191e-15	9.81058e-15	1	1	0
VSIG1	340547	broad.mit.edu	37	X	107319357	107319357	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:107319357G>A	ENST00000415430.3	+	7	1008	c.847G>A	c.(847-849)Gcc>Acc	p.A283T	VSIG1_ENST00000217957.5_Missense_Mutation_p.A247T	NM_001170553.1	NP_001164024.1	Q86XK7	VSIG1_HUMAN	V-set and immunoglobulin domain containing 1	247						integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						CCTGGTAGGTGCCGCCATCAT	0.423000													26	105					0	0	1	0	0
UBASH3B	84959	broad.mit.edu	37	11	122650348	122650348	+	Silent	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:122650348G>A	ENST00000284273.5	+	4	921	c.546G>A	c.(544-546)gcG>gcA	p.A182A		NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing B	182						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)		AAGACAGTGCGGAGGTCCTCA	0.562000													30	129					0	0	1	0	0
RAP1GAP2	23108	broad.mit.edu	37	17	2901670	2901670	+	Splice_Site	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr17:2901670G>T	ENST00000254695.8	+	14	1290	c.1200_splice	c.e14+1	p.K400_splice	RAP1GAP2_ENST00000542807.1_Splice_Site_p.K400_splice|RAP1GAP2_ENST00000540393.2_Splice_Site_p.K381_splice|RAP1GAP2_ENST00000366401.4_Splice_Site_p.K385_splice	NM_015085.4	NP_055900.4	Q684P5	RPGP2_HUMAN	RAP1 GTPase activating protein 2	400	Rap-GAP.				regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						CATCCTACAAGGTAAGGAGAA	0.537000													24	20					3.28513e-13	4.36008e-13	1	1	0
EVC2	132884	broad.mit.edu	37	4	5624405	5624405	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr4:5624405C>G	ENST00000310917.2	-	14	2851	c.2120G>C	c.(2119-2121)cGg>cCg	p.R707P	EVC2_ENST00000344938.1_Missense_Mutation_p.R787P|EVC2_ENST00000344408.5_Missense_Mutation_p.R787P	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	787						integral to membrane				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						CTGCTCGGCCCGTGCAGCCAT	0.647000													15	33					0	0	1	0	0
WDR17	116966	broad.mit.edu	37	4	177083284	177083284	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr4:177083284G>T	ENST00000393643.2	+	21	3061	c.2809G>T	c.(2809-2811)Gta>Tta	p.V937L	WDR17_ENST00000508596.1_Missense_Mutation_p.V937L|WDR17_ENST00000280190.4_Missense_Mutation_p.V961L|WDR17_ENST00000507824.2_Missense_Mutation_p.V944L	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	961										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		TGGTCGAGCAGTACTAGCCGC	0.343000													3	46					0.115264	0.116511	1	1	0
COL2A1	1280	broad.mit.edu	37	12	48386708	48386708	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr12:48386708G>A	ENST00000380518.3	-	16	1140	c.976C>T	c.(976-978)Cgt>Tgt	p.R326C	COL2A1_ENST00000337299.6_Missense_Mutation_p.R257C	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	326	Triple-helical region.				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)	GGCAGGCCACGAGGACCCTGG	0.557000													10	31					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181727100	181727100	+	Silent	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:181727100C>T	ENST00000526775.1	+	30	4455	c.4290C>T	c.(4288-4290)ttC>ttT	p.F1430F	CACNA1E_ENST00000367573.2_Silent_p.F1449F|CACNA1E_ENST00000367567.4_Silent_p.F1056F|CACNA1E_ENST00000357570.5_Silent_p.F1400F|CACNA1E_ENST00000367570.1_Silent_p.F1449F|CACNA1E_ENST00000358338.5_Silent_p.F1381F|CACNA1E_ENST00000360108.3_Silent_p.F1430F	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1449					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.F1449F(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						GCATCGACTTCGCCATCAGCG	0.522000													15	139					0	0	1	0	0
ZFP37	7539	broad.mit.edu	37	9	115818903	115818903	+	Silent	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr9:115818903C>T	ENST00000374227.3	-	1	93	c.66G>A	c.(64-66)gcG>gcA	p.A22A	ZFP37_ENST00000555206.1_Silent_p.A22A|ZFP37_ENST00000553380.1_Silent_p.A22A			Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	22						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						TGGTCGTTTCCGCACTTCTCC	0.662000													35	161					0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10088272	10088272	+	Silent	SNP	G	G	T	rs143655167		TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:10088272G>T	ENST00000264828.3	-	42	3209	c.3124C>A	c.(3124-3126)Cgg>Agg	p.R1042R		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1042	Triple-helical region.		R -> P (in dbSNP:rs2161468).		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)			TCACTTACCCGGGACCCCTTC	0.642000													5	20					3.59834e-05	3.95641e-05	1	1	0
ACR	49	broad.mit.edu	37	22	51182634	51182634	+	Splice_Site	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr22:51182634G>A	ENST00000216139.5	+	4	751	c.711_splice	c.e4+1	p.Q237_splice	ACR_ENST00000527761.1_3'UTR	NM_001097.2	NP_001088.2	P10323	ACRO_HUMAN	acrosin	237	Peptidase S1.				acrosome matrix dispersal|activation of adenylate cyclase activity	acrosomal matrix|protein complex	amidase activity|copper ion binding|DNA 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)		ACACCTGCCAGGTAACCTTCC	0.587000													17	40					0	0	1	0	0
SRRM2	23524	broad.mit.edu	37	16	2814774	2814774	+	Silent	SNP	G	G	A	rs145082336	byFrequency	TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr16:2814774G>A	ENST00000301740.8	+	11	4794	c.4245G>A	c.(4243-4245)tcG>tcA	p.S1415S		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1415	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GAACACCCTCGAGAGAAAGAA	0.478000													108	147					0	0	1	0	0
TMEM132E	124842	broad.mit.edu	37	17	32954025	32954025	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr17:32954025C>A	ENST00000321639.5	+	3	1005	c.677C>A	c.(676-678)gCc>gAc	p.A226D		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	226						integral to membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		CTCTATCTGGCCCCCAACTCC	0.612000													18	79					0.000132079	0.000143812	1	1	0
ZNF462	58499	broad.mit.edu	37	9	109686887	109686887	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr9:109686887A>G	ENST00000277225.5	+	3	983	c.694A>G	c.(694-696)Atg>Gtg	p.M232V	ZNF462_ENST00000457913.1_Missense_Mutation_p.M232V			Q96JM2	ZN462_HUMAN	zinc finger protein 462	232					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						CTTAGAGTCTATGGTCAAGCC	0.557000													20	43					0	0	1	0	0
GPR149	344758	broad.mit.edu	37	3	154139017	154139017	+	Silent	SNP	A	A	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr3:154139017A>G	ENST00000389740.2	-	3	1533	c.1434T>C	c.(1432-1434)atT>atC	p.I478I		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	478						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TAGCTTCTGTAATATCAGTAT	0.403000													54	114					0	0	1	0	0
RCOR3	55758	broad.mit.edu	37	1	211452578	211452578	+	Splice_Site	SNP	A	A	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:211452578A>T	ENST00000367005.4	+	6	608		c.e6-1		RCOR3_ENST00000367006.4_Splice_Site|RCOR3_ENST00000419091.2_Splice_Site|RCOR3_ENST00000452621.2_Splice_Site	NM_018254.3	NP_060724.1	Q9P2K3	RCOR3_HUMAN	REST corepressor 3						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)		GTTTCTTCTCAGTGATGATGA	0.353000													15	37					0	0	1	0	0
FEZ1	9638	broad.mit.edu	37	11	125351440	125351440	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:125351440G>T	ENST00000278919.3	-	3	635	c.401C>A	c.(400-402)tCt>tAt	p.S134Y	FEZ1_ENST00000527350.1_5'UTR	NM_005103.4	NP_005094.1	Q99689	FEZ1_HUMAN	fasciculation and elongation protein zeta 1 (zygin I)	134					axon guidance|cell adhesion|transport	microtubule|plasma membrane				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	24	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0934)		CTCAGTGTCAGAGCAGTTGCC	0.473000													60	181					5.10508e-28	7.91341e-28	1	1	0
DYM	54808	broad.mit.edu	37	18	46889571	46889571	+	Silent	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr18:46889571G>A	ENST00000269445.6	-	6	911	c.454C>T	c.(454-456)Ctg>Ttg	p.L152L	DYM_ENST00000578396.1_5'UTR|DYM_ENST00000442713.2_Intron	NM_017653.3	NP_060123.3	Q7RTS9	DYM_HUMAN	dymeclin	152						Golgi apparatus				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						AAACAGCACAGCAATTCTTCC	0.348000													15	50					0	0	1	0	0
SPATA16	83893	broad.mit.edu	37	3	172835428	172835428	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr3:172835428A>T	ENST00000351008.3	-	2	277	c.94T>A	c.(94-96)Tcc>Acc	p.S32T		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	32					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)			GCTAAGGTGGACATTTTCTTG	0.403000													7	211					0	0	1	0	0
ITIH6	347365	broad.mit.edu	37	X	54783747	54783747	+	Silent	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:54783747G>A	ENST00000218436.6	-	8	2789	c.2760C>T	c.(2758-2760)acC>acT	p.T920T		NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	920	Poly-Thr.|Pro-rich.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity										CAAGGACAGAGGTGGTTGTGG	0.572000													14	58					0	0	1	0	0
GSPT2	23708	broad.mit.edu	37	X	51487925	51487925	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:51487925G>C	ENST00000340438.4	+	1	1445	c.1203G>C	c.(1201-1203)caG>caC	p.Q401H		NM_018094.4	NP_060564.2	Q8IYD1	ERF3B_HUMAN	G1 to S phase transition 2	401					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)					TTAAAGAGCAGTCAGATTTCT	0.403000													12	57					0	0	1	0	0
SPECC1	92521	broad.mit.edu	37	17	20209366	20209366	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr17:20209366G>A	ENST00000395530.2	+	12	3053	c.2845G>A	c.(2845-2847)Gct>Act	p.A949T	SPECC1_ENST00000261503.5_Missense_Mutation_p.A1030T|AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000395527.4_Missense_Mutation_p.A1030T|SPECC1_ENST00000536879.1_Missense_Mutation_p.A370T	NM_001033555.2	NP_001028727.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	1030						nucleus				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		ATTTGAAGCGGCTGAAAGTGT	0.353000													23	54					0	0	1	0	0
RAP1GDS1	5910	broad.mit.edu	37	4	99325714	99325714	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr4:99325714G>T	ENST00000408927.3	+	7	837	c.724G>T	c.(724-726)Gaa>Taa	p.E242*	RAP1GDS1_ENST00000339360.5_Nonsense_Mutation_p.E243*|RAP1GDS1_ENST00000264572.7_Nonsense_Mutation_p.E151*|RAP1GDS1_ENST00000453712.2_Nonsense_Mutation_p.E243*|RAP1GDS1_ENST00000408900.3_Nonsense_Mutation_p.E193*|RAP1GDS1_ENST00000380158.4_Nonsense_Mutation_p.E194*	NM_001100426.1|NM_001100427.1|NM_021159.4	NP_001093896.1|NP_001093897.1|NP_066982.3	P52306	GDS1_HUMAN	RAP1, GTP-GDP dissociation stimulator 1	242							binding|GTPase activator activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		TGATAAGAGAGAAATGATTTT	0.313000			T	NUP98	T-ALL								19	40					1.01871e-10	1.29314e-10	1	1	0
CYP3A4	1576	broad.mit.edu	37	7	99361602	99361602	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr7:99361602A>G	ENST00000354593.2	-	5	555	c.452T>C	c.(451-453)aTc>aCc	p.I151T	CYP3A4_ENST00000336411.2_Missense_Mutation_p.I301T			P08684	CP3A4_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 4	301					alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|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|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity			breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)	AAAAATAAAGATAATTGATTG	0.443000													33	40					0	0	1	0	0
KRTAP4-9	100132386	broad.mit.edu	37	17	39261990	39261990	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr17:39261990C>A	ENST00000391415.1	+	1	407	c.350C>A	c.(349-351)cCt>cAt	p.P117H		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	117	29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].					keratin filament				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						TGCTGCCACCCTAGGtgctgc	0.652000													11	29					0.00010058	0.000109621	1	1	0
OR10P1	121130	broad.mit.edu	37	12	56030945	56030945	+	Silent	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr12:56030945C>T	ENST00000309675.2	+	1	302	c.270C>T	c.(268-270)ccC>ccT	p.P90P		NM_206899.1	NP_996782.1	Q8NGE3	O10P1_HUMAN	olfactory receptor, family 10, subfamily P, member 1	90					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						CCCCGCATCCCCAGGCCATCT	0.602000													29	54					0	0	1	0	0
PNMAL1	55228	broad.mit.edu	37	19	46974154	46974154	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:46974154G>T	ENST00000313683.10	-	2	444	c.139C>A	c.(139-141)Ctc>Atc	p.L47I	PNMAL1_ENST00000602246.1_Missense_Mutation_p.L47I|PNMAL1_ENST00000438932.2_Missense_Mutation_p.L47I	NM_001103149.1|NM_018215.3	NP_001096619.1|NP_060685.2	Q86V59	PNML1_HUMAN	paraneoplastic Ma antigen family-like 1	47										cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		agtggggagaggaccccattc	0.537000													13	35					5.50884e-06	6.18744e-06	1	1	0
TERT	7015	broad.mit.edu	37	5	1294342	1294342	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr5:1294342C>A	ENST00000310581.5	-	2	716	c.659G>T	c.(658-660)gGt>gTt	p.G220V	TERT_ENST00000508104.2_Missense_Mutation_p.G220V|TERT_ENST00000296820.5_Missense_Mutation_p.G220V|TERT_ENST00000334602.6_Missense_Mutation_p.G220V	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	220	RNA-interacting domain 1.				anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CCTCCTCGCACCCGGGGCTGG	0.741000									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis				9	34					7.48243e-07	8.66895e-07	1	1	0
HRNR	388697	broad.mit.edu	37	1	152187486	152187486	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:152187486G>A	ENST00000368801.2	-	3	6694	c.6619C>T	c.(6619-6621)Cgt>Tgt	p.R2207C	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2207					keratinization		calcium ion binding|protein binding	p.R2207C(1)		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)			CTGGAAGAACGACCTGAGCCA	0.602000													29	664					0	0	1	0	0
SRCAP	10847	broad.mit.edu	37	16	30750299	30750299	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr16:30750299C>G	ENST00000262518.4	+	34	9323	c.8938C>G	c.(8938-8940)Cca>Gca	p.P2980A	SRCAP_ENST00000344771.4_Missense_Mutation_p.P2822A|SRCAP_ENST00000395059.2_Missense_Mutation_p.P2918A	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2980	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)			CCCACTCCCACCACTGCTAGT	0.577000													4	92					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237780625	237780625	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:237780625C>G	ENST00000366574.2	+	38	6072	c.5755C>G	c.(5755-5757)Cgg>Ggg	p.R1919G	RYR2_ENST00000360064.6_Missense_Mutation_p.R1917G|RYR2_ENST00000542537.1_Missense_Mutation_p.R1903G	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1919	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.R1917W(2)		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)			CTGCCAGGTCCGGCACCGGAT	0.403000													10	26					0	0	1	0	0
TMC4	147798	broad.mit.edu	37	19	54673269	54673269	+	Nonsense_Mutation	SNP	C	C	T	rs147493600		TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:54673269C>T	ENST00000376591.4	-	3	572	c.441G>A	c.(439-441)tgG>tgA	p.W147*	TMC4_ENST00000476013.2_5'UTR|TMC4_ENST00000301187.4_Nonsense_Mutation_p.W141*	NM_001145303.1|NM_144686.2	NP_001138775.1|NP_653287.1	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	147						integral to membrane				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TCTTCAGTGTCCACGCCCAGG	0.642000													9	63					0	0	1	0	0
ZYG11B	79699	broad.mit.edu	37	1	53262032	53262032	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:53262032C>T	ENST00000294353.6	+	7	1548	c.1403C>T	c.(1402-1404)gCa>gTa	p.A468V	ZYG11B_ENST00000443756.2_Missense_Mutation_p.A468V|ZYG11B_ENST00000545132.1_Missense_Mutation_p.A468V	NM_024646.2	NP_078922.1	Q9C0D3	ZY11B_HUMAN	zyg-11 family member B, cell cycle regulator	468							protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						CAAAGGATGGCAGTTGCTATC	0.418000													8	35					0	0	1	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88885536	88885536	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr8:88885536C>A	ENST00000319675.3	-	1	760	c.664G>T	c.(664-666)Ggg>Tgg	p.G222W		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	222										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						CTGCTAGTCCCAAATGACTGC	0.532000													28	109					9.39395e-14	1.26626e-13	1	1	0
NLRP3	114548	broad.mit.edu	37	1	247592996	247592996	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:247592996C>A	ENST00000366497.2	+	5	3046	c.2266C>A	c.(2266-2268)Cca>Aca	p.P756T	NLRP3_ENST00000336119.3_Missense_Mutation_p.P756T|NLRP3_ENST00000391828.3_Missense_Mutation_p.P756T|NLRP3_ENST00000348069.2_Intron|NLRP3_ENST00000391827.2_Intron|NLRP3_ENST00000366496.2_Missense_Mutation_p.P756T	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	813					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)			TCTGGGGGACCCAGGGATGAG	0.527000													21	78					8.10497e-08	9.62385e-08	1	1	0
LAX1	54900	broad.mit.edu	37	1	203743258	203743258	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:203743258C>G	ENST00000442561.2	+	5	1036	c.646C>G	c.(646-648)Ctc>Gtc	p.L216V	LAX1_ENST00000367217.5_Missense_Mutation_p.L200V|LAX1_ENST00000367215.1_3'UTR	NM_017773.3	NP_060243.2	Q8IWV1	LAX1_HUMAN	lymphocyte transmembrane adaptor 1	216					B cell activation|immune response|inactivation of MAPK activity|intracellular signal transduction|negative regulation of T cell activation	Golgi apparatus|integral to membrane|plasma membrane	protein kinase binding|SH2 domain binding			central_nervous_system(2)|endometrium(3)|large_intestine(2)|lung(13)|prostate(1)|stomach(1)|urinary_tract(2)	24	all_cancers(21;0.0915)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TTCCAGAAATCTCTTTGTTCT	0.478000													7	59					0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86415817	86415817	+	Missense_Mutation	SNP	C	C	A	rs112122758		TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr7:86415817C>A	ENST00000361669.2	+	3	1808	c.709C>A	c.(709-711)Cgc>Agc	p.R237S	AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000439827.1_Missense_Mutation_p.R237S|GRM3_ENST00000546348.1_Intron|AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000394720.2_Missense_Mutation_p.R235S|GRM3_ENST00000536043.1_Missense_Mutation_p.R109S	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	237					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)	AGCCCGCCTGCGCAACATCTG	0.607000													39	39					7.53189e-24	1.14614e-23	1	1	0
FSD2	123722	broad.mit.edu	37	15	83447540	83447540	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr15:83447540C>A	ENST00000334574.8	-	6	1270	c.1089G>T	c.(1087-1089)atG>atT	p.M363I	FSD2_ENST00000541889.1_Missense_Mutation_p.M363I			A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing 2	363										breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						TAATGGAGCCCATCAGCTGCT	0.473000													11	12					1.58986e-06	1.82314e-06	1	1	0
KCNAB2	8514	broad.mit.edu	37	1	6147535	6147535	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:6147535G>T	ENST00000164247.1	+	8	899	c.335G>T	c.(334-336)aGc>aTc	p.S112I	KCNAB2_ENST00000352527.1_Missense_Mutation_p.S98I|KCNAB2_ENST00000378111.1_Intron|KCNAB2_ENST00000602612.1_Missense_Mutation_p.S112I|KCNAB2_ENST00000341524.1_Missense_Mutation_p.S112I|KCNAB2_ENST00000378083.3_Missense_Mutation_p.S145I|KCNAB2_ENST00000378097.1_Missense_Mutation_p.S112I|KCNAB2_ENST00000458166.2_Missense_Mutation_p.S45I|KCNAB2_ENST00000378087.3_Intron|KCNAB2_ENST00000378092.1_Missense_Mutation_p.S98I	NM_001199860.1	NP_001186789.1	Q13303	KCAB2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 2	112						cytoplasm|integral to membrane|juxtaparanode region of axon	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			large_intestine(1)|lung(4)|skin(3)	8	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;4.88e-22)|all_lung(118;4.21e-08)|Lung NSC(185;9.77e-07)|all_hematologic(16;2.78e-06)|all_neural(13;3.18e-06)|Acute lymphoblastic leukemia(12;0.000272)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00106)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;6.9e-37)|GBM - Glioblastoma multiforme(13;8.8e-31)|OV - Ovarian serous cystadenocarcinoma(86;1.45e-19)|Colorectal(212;2.46e-07)|COAD - Colon adenocarcinoma(227;2.07e-05)|Kidney(185;7.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00131)|BRCA - Breast invasive adenocarcinoma(365;0.00133)|STAD - Stomach adenocarcinoma(132;0.00391)|READ - Rectum adenocarcinoma(331;0.0649)		AGGCGGTCCAGCCTCGTCATC	0.632000													31	63					4.02929e-09	4.91981e-09	1	1	0
KRBA1	84626	broad.mit.edu	37	7	149426299	149426299	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr7:149426299G>A	ENST00000255992.10	+	13	2047	c.1648G>A	c.(1648-1650)Gag>Aag	p.E550K	KRBA1_ENST00000479560.1_3'UTR|KRBA1_ENST00000485033.2_Intron|KRBA1_ENST00000319551.8_Intron	NM_032534.2	NP_115923.2	A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1	550										breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGAGGCCTGCGAGTCAGCCGT	0.632000													5	24					0	0	1	0	0
KLHDC4	54758	broad.mit.edu	37	16	87743023	87743023	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr16:87743023C>G	ENST00000270583.5	-	10	1353	c.1295G>C	c.(1294-1296)cGc>cCc	p.R432P	KLHDC4_ENST00000347925.5_Missense_Mutation_p.R401P|KLHDC4_ENST00000353170.5_Missense_Mutation_p.R375P|KLHDC4_ENST00000566349.1_5'UTR	NM_017566.3	NP_060036.2	Q8TBB5	KLDC4_HUMAN	kelch domain containing 4	432										breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21				BRCA - Breast invasive adenocarcinoma(80;0.0283)		GGCGTTGGAGCGTGGACACGG	0.687000													35	42					0	0	1	0	0
LILRB4	11006	broad.mit.edu	37	19	55174488	55174488	+	Translation_Start_Site	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:55174488G>A	ENST00000391736.1	+	3	318	c.3G>A	c.(1-3)atG>atA	p.M1I	LILRB4_ENST00000270452.2_Start_Codon_SNP_p.M1I|LILRB4_ENST00000391734.3_Start_Codon_SNP_p.M1I|LILRB4_ENST00000391733.3_Start_Codon_SNP_p.M1I|LILRB4_ENST00000430952.2_Start_Codon_SNP_p.M1I	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	1						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)		GAGACGCCATGATCCCCACCT	0.617000											OREG0003670	type=REGULATORY REGION|Gene=LILRB4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	22	63					0	0	1	0	0
CD300LD	100131439	broad.mit.edu	37	17	72578396	72578396	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr17:72578396G>T	ENST00000375352.1	-	3	514	c.434C>A	c.(433-435)aCa>aAa	p.T145K		NM_001115152.1	NP_001108624.1	Q6UXZ3	CLM4_HUMAN	CD300 molecule-like family member d	145						integral to membrane|plasma membrane	receptor activity			large_intestine(1)|lung(2)|prostate(1)|stomach(1)	5						GGCTGCAGCTGTGAAAGCCAG	0.577000													10	94					2.10051e-16	2.97439e-16	1	1	0
USP49	25862	broad.mit.edu	37	6	41773703	41773703	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr6:41773703C>T	ENST00000394253.3	-	3	1348	c.1019G>A	c.(1018-1020)cGg>cAg	p.R340Q	USP49_ENST00000297229.2_Missense_Mutation_p.R340Q|USP49_ENST00000373009.3_Missense_Mutation_p.R340Q|USP49_ENST00000373006.1_Missense_Mutation_p.R340Q|USP49_ENST00000373010.1_Missense_Mutation_p.R340Q			Q70CQ1	UBP49_HUMAN	ubiquitin specific peptidase 49	340					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding	p.R340Q(1)		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)			CTCCAGACTCCGACTAATGGA	0.597000													14	38					0	0	1	0	0
CLCN1	1180	broad.mit.edu	37	7	143044019	143044019	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr7:143044019G>T	ENST00000343257.2	+	20	2467	c.2380G>T	c.(2380-2382)Gtg>Ttg	p.V794L		NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	794					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					CACAGATTTAGTGGATAACAT	0.408000													51	52					1.70205e-38	2.73083e-38	1	1	0
KRTAP10-9	386676	broad.mit.edu	37	21	46047221	46047221	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr21:46047221C>A	ENST00000397911.3	+	1	182	c.133C>A	c.(133-135)Ctg>Atg	p.L45M	TSPEAR_ENST00000323084.4_Intron|KRTAP10-9_ENST00000484861.1_3'UTR	NM_198690.2	NP_941963.2	P60411	KR109_HUMAN	keratin associated protein 10-9	45	25 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						CTGCCTGACCCTGGTCTGCAC	0.697000													35	97					4.39465e-27	6.78403e-27	1	1	0
CNOT4	4850	broad.mit.edu	37	7	135078972	135078972	+	Missense_Mutation	SNP	T	T	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr7:135078972T>G	ENST00000428680.2	-	10	1595	c.1316A>C	c.(1315-1317)cAc>cCc	p.H439P	CNOT4_ENST00000423368.2_Missense_Mutation_p.H442P|CNOT4_ENST00000451834.1_Missense_Mutation_p.H439P|CNOT4_ENST00000361528.4_Missense_Mutation_p.H439P|CNOT4_ENST00000541284.1_Missense_Mutation_p.H442P|CNOT4_ENST00000414802.1_Intron|CNOT4_ENST00000315544.5_Missense_Mutation_p.H442P|CNOT4_ENST00000356162.4_Intron	NM_001008225.2	NP_001008226.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	442					nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA 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						GGTTGTAGTGTGTGAAGAGGA	0.498000													67	68					0	0	1	0	0
MYPN	84665	broad.mit.edu	37	10	69925568	69925568	+	Silent	SNP	C	C	T	rs138354021		TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr10:69925568C>T	ENST00000358913.5	+	9	2081	c.1593C>T	c.(1591-1593)caC>caT	p.H531H	MYPN_ENST00000354393.2_Silent_p.H256H|MYPN_ENST00000540630.1_Silent_p.H531H	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	531	Ig-like 2.					nucleus|sarcomere	actin binding			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						CACAGCTGCACGTGAGAGGTA	0.433000													17	65					0	0	1	0	0
IL21R	50615	broad.mit.edu	37	16	27460310	27460310	+	Silent	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr16:27460310C>A	ENST00000337929.3	+	9	1796	c.1323C>A	c.(1321-1323)ccC>ccA	p.P441P	IL21R_ENST00000395755.1_Silent_p.P441P|IL21R_ENST00000395754.4_Silent_p.P441P|IL21R-AS1_ENST00000563191.1_RNA|IL21R_ENST00000564089.1_Silent_p.P441P	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	441					natural killer cell activation	integral to membrane	interleukin-21 receptor activity			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						TAGGAGGGCCCCTGGGAAGCC	0.667000			T	BCL6	NHL								44	49					1.61004e-24	2.45835e-24	1	1	0
FLG	2312	broad.mit.edu	37	1	152277995	152277995	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:152277995C>T	ENST00000368799.1	-	3	9402	c.9367G>A	c.(9367-9369)Ggg>Agg	p.G3123R	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3123	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)			TGGTGGTACCCCTGCCTTCCT	0.607000									Ichthyosis				6	327					0	0	1	0	0
STK31	56164	broad.mit.edu	37	7	23809339	23809339	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr7:23809339G>T	ENST00000354639.3	+	13	2072	c.1608G>T	c.(1606-1608)gaG>gaT	p.E536D	STK31_ENST00000355870.3_Missense_Mutation_p.E559D|STK31_ENST00000433467.2_Missense_Mutation_p.E559D|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000428484.1_Missense_Mutation_p.E536D	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	559							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						AGAAGACTGAGTCAAGTGTCT	0.383000													66	79					7.73544e-29	1.2049e-28	1	1	0
TP73	7161	broad.mit.edu	37	1	3638723	3638723	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:3638723G>T	ENST00000378295.4	+	5	723	c.568G>T	c.(568-570)Gtc>Ttc	p.V190F	TP73_ENST00000603362.1_Missense_Mutation_p.V190F|TP73_ENST00000604074.1_Missense_Mutation_p.V190F|TP73_ENST00000378280.1_Missense_Mutation_p.V141F|TP73_ENST00000354437.4_Missense_Mutation_p.V190F|TP73_ENST00000357733.3_Missense_Mutation_p.V190F|TP73_ENST00000378288.4_Missense_Mutation_p.V141F|TP73_ENST00000378285.1_Missense_Mutation_p.V141F|TP73_ENST00000346387.4_Missense_Mutation_p.V190F|TP73_ENST00000378290.4_Missense_Mutation_p.V119F|TP73_ENST00000604479.1_Missense_Mutation_p.V190F	NM_001204185.1|NM_005427.3	NP_001191114.1|NP_005418.1	O15350	P73_HUMAN	tumor protein p73	190	DNA-binding (Potential).				cellular response to UV|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|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to gamma radiation|response to X-ray	chromatin|cytosol|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1)	20	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		CGTGACCGACGTCGTGAAACG	0.647000													19	38					2.39187e-15	3.32503e-15	1	1	0
DPPA3	359787	broad.mit.edu	37	12	7864238	7864238	+	Silent	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr12:7864238G>T	ENST00000345088.2	+	1	189	c.72G>T	c.(70-72)cgG>cgT	p.R24R		NM_199286.2	NP_954980.1	Q6W0C5	DPPA3_HUMAN	developmental pluripotency associated 3	24						cytoplasm|nucleus				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)	8				Kidney(36;0.0887)		AAAATTCCCGGGACGATTCAG	0.453000													13	24					5.50884e-06	6.18744e-06	1	1	0
ITGBL1	9358	broad.mit.edu	37	13	102235704	102235704	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr13:102235704C>A	ENST00000376180.3	+	6	1085	c.866C>A	c.(865-867)tCa>tAa	p.S289*	ITGBL1_ENST00000376162.3_Nonsense_Mutation_p.S196*|ITGBL1_ENST00000545560.2_Nonsense_Mutation_p.S148*	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat domains)	289	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity			breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GACTTCTGTTCAGGTAAGGGC	0.433000													25	121					4.59853e-10	5.75907e-10	1	1	0
PCDHGA12	26025	broad.mit.edu	37	5	140812476	140812476	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr5:140812476G>T	ENST00000252085.3	+	1	2292	c.2150G>T	c.(2149-2151)cGg>cTg	p.R717L	PCDHGB7_ENST00000398594.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1														breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCAGGCTGCGGCGCTGGCAC	0.652000													55	75					3.81248e-40	6.13442e-40	1	1	0
CPNE4	131034	broad.mit.edu	37	3	131271328	131271328	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr3:131271328T>C	ENST00000512055.1	-	17	3250	c.1124A>G	c.(1123-1125)cAt>cGt	p.H375R	CPNE4_ENST00000512332.1_Missense_Mutation_p.H393R|CPNE4_ENST00000511604.1_Missense_Mutation_p.H375R|CPNE4_ENST00000429747.1_Missense_Mutation_p.H375R|CPNE4_ENST00000502818.1_Missense_Mutation_p.H393R			Q96A23	CPNE4_HUMAN	copine IV	375	VWFA.									central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						TGCAAAGTCATGAGAGACCTA	0.393000													12	63					0	0	1	0	0
ECD	11319	broad.mit.edu	37	10	74912076	74912076	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr10:74912076C>A	ENST00000372979.4	-	7	1093	c.887G>T	c.(886-888)cGa>cTa	p.R296L	ECD_ENST00000454759.1_Intron|ECD_ENST00000430082.1_Missense_Mutation_p.R296L	NM_007265.2	NP_009196.1	O95905	SGT1_HUMAN	ecdysoneless homolog (Drosophila)	296					regulation of glycolysis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	transcription coactivator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(51;0.0119)					TTCATGGGCTCGGTACTGGGG	0.423000													20	61					2.70639e-06	3.06898e-06	1	1	0
CACNA1D	776	broad.mit.edu	37	3	53531424	53531424	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr3:53531424G>A	ENST00000288139.3	+	2	431	c.313G>A	c.(313-315)Gcc>Acc	p.A105T	CACNA1D_ENST00000350061.5_Missense_Mutation_p.A105T|CACNA1D_ENST00000422281.2_Missense_Mutation_p.A105T	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	105					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.A105T(4)		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)	ACCTGCCCGCGCCCTTTTCTG	0.478000													18	75					0	0	1	0	0
F13A1	2162	broad.mit.edu	37	6	6225019	6225019	+	Silent	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr6:6225019C>T	ENST00000264870.3	-	7	1138	c.873G>A	c.(871-873)tcG>tcA	p.S291S		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	291					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)	CAGTCCAGGCCGATGGGGGGA	0.498000													27	83					0	0	1	0	0
SUCO	51430	broad.mit.edu	37	1	172520659	172520659	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:172520659A>T	ENST00000367723.3	+	3	782	c.658A>T	c.(658-660)Agc>Tgc	p.S220C	SUCO_ENST00000263688.3_Missense_Mutation_p.S24C	NM_016227.2	NP_057311.2			SUN domain containing ossification factor																		CAGGCTTCCCAGCTGGCGTGT	0.393000													12	38					0	0	1	0	0
GUCY1B3	2983	broad.mit.edu	37	4	156725880	156725880	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr4:156725880G>T	ENST00000264424.8	+	12	1772	c.1690G>T	c.(1690-1692)Gtg>Ttg	p.V564L	GUCY1B3_ENST00000502959.1_Missense_Mutation_p.V586L|GUCY1B3_ENST00000503520.1_Missense_Mutation_p.V531L|GUCY1B3_ENST00000505154.1_Missense_Mutation_p.V496L|GUCY1B3_ENST00000505764.1_Missense_Mutation_p.V544L|GUCY1B3_ENST00000507146.1_Missense_Mutation_p.V539L|GUCY1B3_ENST00000513437.1_Missense_Mutation_p.V496L	NM_000857.2	NP_000848.1	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3	564					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble|intracellular membrane-bounded organelle	GTP binding|guanylate cyclase activity|receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		AAAAATAAATGTGTCTGAATA	0.388000													13	26					4.36969e-10	5.48166e-10	1	1	0
FAM47A	158724	broad.mit.edu	37	X	34150222	34150222	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:34150222G>T	ENST00000346193.3	-	1	225	c.174C>A	c.(172-174)ttC>ttA	p.F58L		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	58										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						AGCCGTAGCGGAAGTCGTCCA	0.557000													21	81					1.96292e-10	2.47211e-10	1	1	0
SPEF2	79925	broad.mit.edu	37	5	35795804	35795804	+	Splice_Site	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr5:35795804G>T	ENST00000440995.2	+	33	4722		c.e33-1		CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Splice_Site|SPEF2_ENST00000303129.4_Splice_Site			Q9C093	SPEF2_HUMAN	sperm flagellar 2						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)			TTTTTATGTAGGCTGGTCTGT	0.358000													30	121					5.77227e-19	8.38549e-19	1	1	0
SHANK1	50944	broad.mit.edu	37	19	51165381	51165381	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:51165381C>G	ENST00000293441.1	-	23	6345	c.6327G>C	c.(6325-6327)tgG>tgC	p.W2109C	SHANK1_ENST00000391813.1_Missense_Mutation_p.W1496C|SHANK1_ENST00000359082.3_Missense_Mutation_p.W2100C|SHANK1_ENST00000391814.1_Missense_Mutation_p.W2117C|SYT3_ENST00000544769.1_Intron	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	2109	SAM.				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CCAAACCCAGCCACTCCAGCC	0.627000													27	53					0	0	1	0	0
ERMN	57471	broad.mit.edu	37	2	158178034	158178034	+	Silent	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr2:158178034G>T	ENST00000410096.1	-	3	895	c.604C>A	c.(604-606)Cga>Aga	p.R202R	ERMN_ENST00000397283.2_Silent_p.R215R|ERMN_ENST00000420719.2_Silent_p.R182R|ERMN_ENST00000535935.1_Silent_p.R96R	NM_020711.1	NP_065762.1	Q8TAM6	ERMIN_HUMAN	ermin, ERM-like protein	202						cytoplasm|cytoskeleton				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12						TCTATCACTCGAACTtcatct	0.383000													31	70					3.1745e-13	4.22575e-13	1	1	0
EIF4ENIF1	56478	broad.mit.edu	37	22	31859761	31859761	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr22:31859761C>T	ENST00000397525.1	-	5	714	c.491G>A	c.(490-492)cGg>cAg	p.R164Q	RP11-247I13.11_ENST00000483736.1_RNA|EIF4ENIF1_ENST00000344710.5_Intron|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.R164Q|EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.R164Q|RP11-247I13.8_ENST00000439588.1_RNA|RP11-247I13.11_ENST00000464523.1_RNA	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	164	Arg-rich.					nucleus	protein binding|protein transporter activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CTCAAAGGTCCGGGCAGAGAT	0.532000													13	111					0	0	1	0	0
SYN3	8224	broad.mit.edu	37	22	32934035	32934035	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr22:32934035C>T	ENST00000358763.2	-	9	1221	c.979G>A	c.(979-981)Gcc>Acc	p.A327T	SYN3_ENST00000332840.5_Missense_Mutation_p.A327T	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	327	C; actin-binding and synaptic-vesicle binding.				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						TCTGTCATGGCCACCTGCTCC	0.537000													11	101					0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57591140	57591140	+	Silent	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr12:57591140C>T	ENST00000243077.3	+	57	9601	c.9135C>T	c.(9133-9135)gaC>gaT	p.D3045D		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3045					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TCAACCTGGACGGGTCCAACT	0.587000													20	164					0	0	1	0	0
GAL3ST1	9514	broad.mit.edu	37	22	30951613	30951613	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr22:30951613G>A	ENST00000402321.1	-	3	916	c.599C>T	c.(598-600)cCg>cTg	p.P200L	GAL3ST1_ENST00000338911.5_Missense_Mutation_p.P200L|GAL3ST1_ENST00000401975.1_Missense_Mutation_p.P200L|GAL3ST1_ENST00000443111.2_Missense_Mutation_p.P200L|GAL3ST1_ENST00000406955.1_Missense_Mutation_p.P200L|GAL3ST1_ENST00000406361.1_Missense_Mutation_p.P200L|GAL3ST1_ENST00000402369.1_Missense_Mutation_p.P200L			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	200					protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						GTAGCGATCCGGGTCTTGCAG	0.627000													20	140					0	0	1	0	0
SUCLG1	8802	broad.mit.edu	37	2	84670503	84670503	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr2:84670503C>T	ENST00000393868.2	-	3	433	c.223G>A	c.(223-225)Gca>Aca	p.A75T		NM_003849.3	NP_003840.2	P53597	SUCA_HUMAN	succinate-CoA ligase, alpha subunit	75					tricarboxylic acid cycle		ATP citrate synthase activity|GTP binding|succinate-CoA ligase (GDP-forming) activity			kidney(4)|large_intestine(4)|lung(2)	10					Succinic acid(DB00139)	TATTCCAATGCCTGCTGGCTG	0.483000													8	44					0	0	1	0	0
PVRL1	5818	broad.mit.edu	37	11	119548515	119548515	+	Silent	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:119548515C>T	ENST00000264025.3	-	3	1013	c.483G>A	c.(481-483)aaG>aaA	p.K161K	PVRL1_ENST00000340882.2_Silent_p.K161K|PVRL1_ENST00000524510.1_5'UTR|PVRL1_ENST00000341398.2_Silent_p.K161K	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	161	Ig-like C2-type 1.				adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		CATCCTGCCCCTTCTTGGCTC	0.567000													14	67					0	0	1	0	0
ADAMTS5	11096	broad.mit.edu	37	21	28306884	28306884	+	Silent	SNP	C	C	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr21:28306884C>G	ENST00000284987.5	-	4	1711	c.1590G>C	c.(1588-1590)ctG>ctC	p.L530L	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	530	Disintegrin.				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						GCTTCTTGGTCAGACAGACCA	0.552000													16	27					0	0	1	0	0
EPG5	57724	broad.mit.edu	37	18	43483969	43483969	+	Silent	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr18:43483969G>T	ENST00000282041.5	-	25	4477	c.4443C>A	c.(4441-4443)tcC>tcA	p.S1481S	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1481					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						CCAGCTGCACGGACAAACTGC	0.512000													26	29					3.01185e-09	3.67951e-09	1	1	0
IGFN1	91156	broad.mit.edu	37	1	201195197	201195197	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:201195197G>A	ENST00000335211.4	+	22	10862	c.10732G>A	c.(10732-10734)Ggg>Agg	p.G3578R	IGFN1_ENST00000295591.8_3'UTR	NM_001164586.1	NP_001158058.1			immunoglobulin-like and fibronectin type III domain containing 1											autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GAATGAGCTGGGGGCCAGCAA	0.682000													20	55					0	0	1	0	0
NPL	80896	broad.mit.edu	37	1	182783956	182783956	+	Silent	SNP	T	T	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:182783956T>A	ENST00000367554.3	+	5	588	c.270T>A	c.(268-270)gcT>gcA	p.A90A	NPL_ENST00000463899.1_3'UTR|NPL_ENST00000367553.1_Silent_p.A109A|NPL_ENST00000258317.2_Silent_p.A109A|NPL_ENST00000367555.1_Silent_p.A109A|NPL_ENST00000367552.2_Silent_p.A109A	NM_001200050.1	NP_001186979.1	Q9BXD5	NPL_HUMAN	N-acetylneuraminate pyruvate lyase (dihydrodipicolinate synthase)	109					carbohydrate metabolic process	cytoplasm	N-acetylneuraminate lyase activity			breast(1)|central_nervous_system(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(1)|stomach(1)	15						ATGGCATCGCTGTCATTGCAC	0.443000													22	43					0	0	1	0	0
SLC12A5	57468	broad.mit.edu	37	20	44682252	44682252	+	Silent	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr20:44682252G>T	ENST00000454036.1	+	20	2728	c.2652G>T	c.(2650-2652)gtG>gtT	p.V884V	SLC12A5_ENST00000243964.3_Silent_p.V861V	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	884					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)	TCTTCACTGTGGCCCAGATGG	0.527000													39	103					2.26627e-22	3.41158e-22	1	1	0
IRF7	3665	broad.mit.edu	37	11	613338	613338	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:613338G>A	ENST00000397566.1	-	7	1553	c.1144C>T	c.(1144-1146)Cgg>Tgg	p.R382W	IRF7_ENST00000397562.3_Missense_Mutation_p.R76W|IRF7_ENST00000348655.6_Missense_Mutation_p.R340W|IRF7_ENST00000330243.5_Missense_Mutation_p.R382W|IRF7_ENST00000525445.1_Missense_Mutation_p.R263W|IRF7_ENST00000397570.1_Missense_Mutation_p.R340W|IRF7_ENST00000397574.2_Missense_Mutation_p.R369W	NM_004031.2	NP_004022.2	Q92985	IRF7_HUMAN	interferon regulatory factor 7	369					interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of interferon-alpha production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCCATGCGCCGGGCCCACAGC	0.701000													12	75					0	0	1	0	0
GAB4	128954	broad.mit.edu	37	22	17444714	17444714	+	Silent	SNP	C	C	T	rs142725655	by1000genomes	TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr22:17444714C>T	ENST00000400588.1	-	9	1589	c.1482G>A	c.(1480-1482)ccG>ccA	p.P494P		NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	494										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				ATGCAGATGCCGGGTTCTGCT	0.592000													5	55					0	0	1	0	0
TLR4	7099	broad.mit.edu	37	9	120476340	120476340	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr9:120476340C>A	ENST00000355622.6	+	3	2035	c.1934C>A	c.(1933-1935)tCt>tAt	p.S645Y	TLR4_ENST00000394487.4_Missense_Mutation_p.S605Y|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	645					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						CTTGTAGTATCTGTTGTAGCA	0.428000													17	27					2.23348e-06	2.543e-06	1	1	0
NPTX2	4885	broad.mit.edu	37	7	98257789	98257789	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr7:98257789G>A	ENST00000265634.3	+	5	1309	c.1144G>A	c.(1144-1146)Gtc>Atc	p.V382I		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	382	Pentaxin.				synaptic transmission	extracellular region	metal ion binding|sugar binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			ATGGGACCGCGTCCTTCGCGC	0.557000													8	9					0	0	1	0	0
OR5P3	120066	broad.mit.edu	37	11	7847517	7847517	+	Translation_Start_Site	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:7847517C>A	ENST00000328375.1	-	1	2	c.3G>T	c.(1-3)atG>atT	p.M1I	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153445.1	NP_703146.1	Q8WZ94	OR5P3_HUMAN	olfactory receptor, family 5, subfamily P, member 3	1					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TTCCAGTCCCCATCTATATTG	0.323000													21	55					3.10358e-05	3.42585e-05	1	1	0
NCOR1	9611	broad.mit.edu	37	17	16004911	16004911	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr17:16004911C>A	ENST00000268712.3	-	20	2600	c.2343G>T	c.(2341-2343)gaG>gaT	p.E781D	NCOR1_ENST00000395851.1_Missense_Mutation_p.E797D|NCOR1_ENST00000395848.1_Missense_Mutation_p.E688D	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	781					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)		TCACCTGGGTCTCCACACTTT	0.522000													43	89					8.01111e-26	1.22822e-25	1	1	0
PPAP2A	8611	broad.mit.edu	37	5	54721792	54721792	+	Missense_Mutation	SNP	C	C	T	rs139142643		TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr5:54721792C>T	ENST00000307259.8	-	5	1045	c.625G>A	c.(625-627)Gta>Ata	p.V209I	PPAP2A_ENST00000264775.5_Missense_Mutation_p.V210I	NM_003711.2	NP_003702.2	O14494	LPP1_HUMAN	phosphatidic acid phosphatase type 2A	209					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|androgen receptor signaling pathway|germ cell migration|negative regulation of cell proliferation|phospholipid dephosphorylation|regulation of lipid metabolic process|sphingolipid metabolic process	integral to plasma membrane|membrane fraction	phosphatidate phosphatase activity|sphingosine-1-phosphate phosphatase activity			breast(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	9		Lung NSC(810;4.08e-05)|Prostate(74;0.0181)|Breast(144;0.0544)				TAAATGGATACGGCAACAAGA	0.428000													11	52					0	0	1	0	0
RBMX	27316	broad.mit.edu	37	X	135956385	135956385	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:135956385G>T	ENST00000320676.7	-	9	1246	c.1092C>A	c.(1090-1092)taC>taA	p.Y364*	RBMX_ENST00000562646.1_3'UTR|RBMX_ENST00000570135.1_Nonsense_Mutation_p.Y229*|RBMX_ENST00000431446.3_Intron|RBMX_ENST00000565438.1_Nonsense_Mutation_p.Y236*	NM_002139.3	NP_002130.2	P38159	HNRPG_HUMAN	RNA binding motif protein, X-linked	364						catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					TTGAACTGCTGTAGGAATCAC	0.532000													20	99					6.33239e-15	8.74064e-15	1	1	0
C11orf31	280636	broad.mit.edu	37	11	57509596	57509596	+	Silent	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:57509596G>A	ENST00000388857.4	+	3	300	c.276G>A	c.(274-276)gaG>gaA	p.E92E	TMX2-CTNND1_ENST00000528395.1_Intron|C11orf31_ENST00000534355.1_Silent_p.E92E			Q8IZQ5	SELH_HUMAN	chromosome 11 open reading frame 31	92					cell redox homeostasis		selenium binding										CAGGTGCGGAGCTCTGGACTG	0.512000													6	21					0	0	1	0	0
NIPAL3	57185	broad.mit.edu	37	1	24771674	24771674	+	Splice_Site	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:24771674G>T	ENST00000003912.3	+	6	803		c.e6-1		NIPAL3_ENST00000358028.4_Splice_Site|NIPAL3_ENST00000339255.2_Splice_Site|NIPAL3_ENST00000374399.4_Splice_Site|NIPAL3_ENST00000428131.1_Splice_Site			Q6P499	NPAL3_HUMAN	NIPA-like domain containing 3							integral to membrane				endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(1)	14						TCATTTTTCAGCTAGTGCCAT	0.433000													13	33					0.0135373	0.0139221	1	1	0
HMGXB4	10042	broad.mit.edu	37	22	35661297	35661297	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr22:35661297G>T	ENST00000216106.5	+	5	1044	c.916G>T	c.(916-918)Gag>Tag	p.E306*	HMGXB4_ENST00000444518.2_Nonsense_Mutation_p.E197*	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN	HMG box domain containing 4	306					endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	NURF complex	DNA binding			breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AGAGGCTGGGGAGTTAGTGAT	0.438000													16	58					6.31663e-08	7.5123e-08	1	1	0
DCST1	149095	broad.mit.edu	37	1	155020385	155020385	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:155020385G>A	ENST00000295542.1	+	15	1831	c.1735G>A	c.(1735-1737)Gca>Aca	p.A579T	DCST1_ENST00000423025.2_Missense_Mutation_p.A554T|DCST1_ENST00000392480.1_Missense_Mutation_p.A579T|DCST1_ENST00000368419.2_Missense_Mutation_p.A579T	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	579						integral to membrane	zinc ion binding	p.A579T(1)		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)			GAGGGTCATCGCAGCCTTCTA	0.587000													6	76					0	0	1	0	0
YKT6	10652	broad.mit.edu	37	7	44251864	44251864	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr7:44251864T>C	ENST00000223369.2	+	7	667	c.580T>C	c.(580-582)Tgc>Cgc	p.C194R	YKT6_ENST00000447123.1_3'UTR|YKT6_ENST00000496112.1_Missense_Mutation_p.C160R	NM_006555.3	NP_006546.1	O15498	YKT6_HUMAN	YKT6 v-SNARE homolog (S. cerevisiae)	194	v-SNARE coiled-coil homology.				ER to Golgi vesicle-mediated transport|protein transport|retrograde transport, endosome to Golgi|vesicle docking involved in exocytosis|vesicle targeting	cytoplasmic vesicle membrane|cytosol|endoplasmic reticulum|endosome|Golgi membrane|integral to plasma membrane|mitochondrion|SNARE complex	protein-cysteine S-palmitoleyltransferase activity|SNAP receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7						ACAAAACTCATGCTGTGCCAT	0.532000													46	237					0	0	1	0	0
KRTAP10-12	386685	broad.mit.edu	37	21	46117653	46117653	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr21:46117653C>G	ENST00000400365.3	+	1	567	c.537C>G	c.(535-537)tgC>tgG	p.C179W	TSPEAR_ENST00000323084.4_Intron	NM_198699.1	NP_941972.1	P60413	KR10C_HUMAN	keratin associated protein 10-12	179	19 X 5 AA repeats of C-C-X(3).					keratin filament				large_intestine(1)|lung(8)	9						AGTCTAGCTGCCAGCCAGCTT	0.672000													114	215					0	0	1	0	0
ING5	84289	broad.mit.edu	37	2	242644135	242644135	+	Silent	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr2:242644135G>T	ENST00000313552.6	+	2	131	c.105G>T	c.(103-105)acG>acT	p.T35T	ING5_ENST00000482774.1_3'UTR|ING5_ENST00000406941.1_Silent_p.T35T	NM_032329.4	NP_115705.2	Q8WYH8	ING5_HUMAN	inhibitor of growth family, member 5	35					DNA replication|histone H3 acetylation|negative regulation of cell proliferation|negative regulation of growth|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			large_intestine(1)|lung(1)|skin(1)	3		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;2.16e-33)|all cancers(36;4.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-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;0.0839)		ACCAGAGGACGGAAGGTGGGT	0.557000													29	82					2.4375e-19	3.56409e-19	1	1	0
TRPV2	51393	broad.mit.edu	37	17	16326847	16326847	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr17:16326847G>T	ENST00000338560.7	+	5	1089	c.690G>T	c.(688-690)gaG>gaT	p.E230D	TRPV2_ENST00000577397.1_Intron	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	230	Required for interaction with SLC50A1 (By similarity).				sensory perception	integral to plasma membrane|melanosome	calcium channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		ACCTCCTGGAGAACCCACACC	0.607000													9	33					3.09899e-07	3.62599e-07	1	1	0
MORC3	23515	broad.mit.edu	37	21	37744773	37744773	+	Silent	SNP	A	A	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr21:37744773A>T	ENST00000400485.1	+	16	2686	c.2610A>T	c.(2608-2610)acA>acT	p.T870T	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	870					cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						AGACGGCAACAGATGTTTCAA	0.363000													19	61					0	0	1	0	0
TRIM17	51127	broad.mit.edu	37	1	228596424	228596424	+	Silent	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:228596424C>T	ENST00000366697.2	-	6	1868	c.912G>A	c.(910-912)gcG>gcA	p.A304A	RP11-245P10.4_ENST00000436779.1_RNA|TRIM17_ENST00000456946.2_3'UTR|TRIM17_ENST00000366698.2_Silent_p.A304A|TRIM17_ENST00000295033.3_Silent_p.A304A			Q9Y577	TRI17_HUMAN	tripartite motif containing 17	304	B30.2/SPRY.				protein autoubiquitination	intracellular	protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10		Prostate(94;0.0724)				GGTAGGGGTACGCGGAGGTGG	0.627000													7	110					0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2224480	2224480	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr12:2224480G>T	ENST00000399655.1	+	2	405	c.140G>T	c.(139-141)gGg>gTg	p.G47V	CACNA1C_ENST00000399629.1_Missense_Mutation_p.G47V|CACNA1C_ENST00000399637.1_Missense_Mutation_p.G47V|CACNA1C_ENST00000399601.1_Missense_Mutation_p.G47V|CACNA1C_ENST00000399621.1_Missense_Mutation_p.G47V|CACNA1C_ENST00000335762.5_Missense_Mutation_p.G47V|CACNA1C_ENST00000327702.7_Missense_Mutation_p.G47V|CACNA1C_ENST00000480911.1_Missense_Mutation_p.G47V|CACNA1C_ENST00000406454.3_Missense_Mutation_p.G47V|CACNA1C_ENST00000399634.1_Missense_Mutation_p.G47V|CACNA1C_ENST00000399638.1_Missense_Mutation_p.G47V|CACNA1C_ENST00000399617.1_Missense_Mutation_p.G47V|CACNA1C_ENST00000399644.1_Missense_Mutation_p.G47V|CACNA1C_ENST00000347598.4_Missense_Mutation_p.G47V|CACNA1C_ENST00000399606.1_Missense_Mutation_p.G47V|CACNA1C_ENST00000399641.1_Missense_Mutation_p.G47V|CACNA1C_ENST00000399649.1_Missense_Mutation_p.G47V|CACNA1C_ENST00000399591.1_Missense_Mutation_p.G47V|CACNA1C_ENST00000399603.1_Missense_Mutation_p.G47V|CACNA1C_ENST00000399597.1_Missense_Mutation_p.G47V|CACNA1C_ENST00000344100.3_Missense_Mutation_p.G47V|CACNA1C_ENST00000402845.3_Missense_Mutation_p.G47V|CACNA1C_ENST00000399595.1_Missense_Mutation_p.G47V	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	47					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)	CCCACCCCGGGGGCTGCCCTG	0.672000													5	7					1.23904e-05	1.37992e-05	1	1	0
RGS7	6000	broad.mit.edu	37	1	240975218	240975218	+	Splice_Site	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:240975218C>A	ENST00000366565.1	-	14	1463	c.1082_splice	c.e14+1	p.R361_splice	RGS7_ENST00000407727.1_Splice_Site_p.R361_splice|RGS7_ENST00000366563.1_Splice_Site_p.R361_splice|RGS7_ENST00000366562.4_Splice_Site_p.R361_splice|RGS7_ENST00000366564.1_Splice_Site_p.R361_splice|RGS7_ENST00000446183.2_Splice_Site_p.R277_splice|RGS7_ENST00000348120.2_Splice_Site_p.R308_splice|RGS7_ENST00000331110.7_Splice_Site_p.R335_splice|RGS7_ENST00000401882.1_Splice_Site_p.R308_splice	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	361	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|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)			TGTGTTTTACCTTAAATTTTC	0.388000													16	61					2.35188e-11	3.04225e-11	1	1	0
SPTA1	6708	broad.mit.edu	37	1	158614143	158614143	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:158614143G>A	ENST00000368148.3	-	30	4418	c.4238C>T	c.(4237-4239)gCa>gTa	p.A1413V	SPTA1_ENST00000368147.3_Missense_Mutation_p.A1413V	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1413					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)					ATTCTCACGTGCCACCATCCA	0.473000													20	73					0	0	1	0	0
MIR1185-2	100302209	broad.mit.edu	37	14	101510612	101510612	+	RNA	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr14:101510612C>A	ENST00000408687.1	+	0	78					NR_031571.1																						CTCTCATTTGCGTATCAAACT	0.502000													5	23					0.184627	0.185704	1	1	0
MDGA2	161357	broad.mit.edu	37	14	47504416	47504416	+	Missense_Mutation	SNP	T	T	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr14:47504416T>G	ENST00000426342.1	-	8	1469	c.723A>C	c.(721-723)aaA>aaC	p.K241N	MDGA2_ENST00000439988.2_Missense_Mutation_p.K470N|MDGA2_ENST00000399232.2_Missense_Mutation_p.K539N|MDGA2_ENST00000357362.3_Missense_Mutation_p.K241N	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	470					spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TTGGTTTAGGTTTGCCAGTTA	0.423000													23	110					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41385178	41385178	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr21:41385178G>A	ENST00000400454.1	-	33	6299	c.5822C>T	c.(5821-5823)aCg>aTg	p.T1941M		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1941				HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966).	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)				CTCCAGGACCGTGGGGCGCTT	0.627000													14	39					0	0	1	0	0
DAPK3	1613	broad.mit.edu	37	19	3959300	3959300	+	Silent	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:3959300G>A	ENST00000545797.2	-	9	1407	c.1164C>T	c.(1162-1164)acC>acT	p.T388T	DAPK3_ENST00000301264.3_Silent_p.T388T			O43293	DAPK3_HUMAN	death-associated protein kinase 3	388					apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade	cytoplasm|PML body	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)		TGAGCGCCTCGGTCTTGAGCA	0.706000													4	15					0	0	1	0	0
HEPHL1	341208	broad.mit.edu	37	11	93754640	93754640	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:93754640G>A	ENST00000315765.9	+	1	114	c.106G>A	c.(106-108)Gaa>Aaa	p.E36K		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	36	Plastocyanin-like 1.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				GATTGTGGAAGAATACTGGAA	0.478000													32	143					0	0	1	0	0
CSPG4	1464	broad.mit.edu	37	15	75982104	75982104	+	Silent	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr15:75982104G>T	ENST00000308508.5	-	3	1394	c.1302C>A	c.(1300-1302)atC>atA	p.I434I		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	434	Globular or compact configuration stabilized by disulfide bonds.|Neurite growth inhibition (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						CCAGTGGGCTGATAGTCAGCA	0.647000													5	79					0.0381472	0.0387871	1	1	0
TRPM2	7226	broad.mit.edu	37	21	45798949	45798949	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr21:45798949G>A	ENST00000397928.1	+	8	1529	c.1084G>A	c.(1084-1086)Gtc>Atc	p.V362I	TRPM2_ENST00000300482.5_Missense_Mutation_p.V362I|TRPM2_ENST00000397932.2_Missense_Mutation_p.V362I|TRPM2_ENST00000300481.9_Missense_Mutation_p.V362I|TRPM2_ENST00000498430.1_3'UTR	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	362						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						CGTGGCCGACGTCATTGCCCA	0.617000													15	101					0	0	1	0	0
EIF5B	9669	broad.mit.edu	37	2	100013306	100013306	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr2:100013306C>T	ENST00000289371.5	+	22	3540	c.3338C>T	c.(3337-3339)aCg>aTg	p.T1113M		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	1113					regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						ATGGGGGTGACGGTGGAAGCA	0.428000													7	95					0	0	1	0	0
DSG2	1829	broad.mit.edu	37	18	29126544	29126544	+	Silent	SNP	T	T	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr18:29126544T>C	ENST00000261590.8	+	15	3404	c.3195T>C	c.(3193-3195)acT>acC	p.T1065T	RP11-75N4.2_ENST00000583706.1_RNA	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	1065					cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			AGATTCCCACTGAAAATTCTA	0.478000													15	93					0	0	1	0	0
LONRF3	79836	broad.mit.edu	37	X	118109308	118109308	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:118109308G>T	ENST00000365713.2	+	1	728	c.565G>T	c.(565-567)Gac>Tac	p.D189Y	LONRF3_ENST00000371628.3_Missense_Mutation_p.D189Y|LONRF3_ENST00000304778.7_Missense_Mutation_p.D189Y			Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger 3	189					proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						GCGGGCCGCCGACCGGCGCTG	0.672000													10	30					0.000673444	0.000712181	1	1	0
C1orf21	81563	broad.mit.edu	37	1	184446685	184446685	+	Silent	SNP	T	T	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:184446685T>C	ENST00000235307.6	+	2	477	c.42T>C	c.(40-42)aaT>aaC	p.N14N		NM_030806.3	NP_110433.1	Q9H246	CA021_HUMAN	chromosome 1 open reading frame 21	14										breast(1)|lung(1)	2		Breast(1374;0.00262)		Colorectal(1306;4.8e-08)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)		CTGTTCAAAATGAAGAGGAAG	0.498000													5	49					0	0	1	0	0
EPAS1	2034	broad.mit.edu	37	2	46574053	46574053	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr2:46574053C>T	ENST00000263734.3	+	2	578	c.68C>T	c.(67-69)gCg>gTg	p.A23V	EPAS1_ENST00000467888.1_3'UTR	NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	23					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)			CGGGATGCTGCGCGGTGCCGG	0.592000													12	81					0	0	1	0	0
CLEC17A	388512	broad.mit.edu	37	19	14707927	14707927	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:14707927A>T	ENST00000547437.1	+	10	677	c.600A>T	c.(598-600)gaA>gaT	p.E200D	CLEC17A_ENST00000417570.1_Missense_Mutation_p.E200D|CLEC17A_ENST00000397439.2_Missense_Mutation_p.E183D	NM_207390.3	NP_997273.3	Q6ZS10	CL17A_HUMAN	C-type lectin domain family 17, member A	200						cell surface|integral to membrane	fucose binding|mannose binding|metal ion binding|receptor activity										AGTTGATGGAAGAACTGAGAA	0.498000													7	17					0	0	1	0	0
NPPB	4879	broad.mit.edu	37	1	11917729	11917729	+	Splice_Site	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:11917729C>T	ENST00000376468.3	-	3	486		c.e3-1			NM_002521.2	NP_002512.1	P16860	ANFB_HUMAN	natriuretic peptide B						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)	CGCCTCAGCACTGTCAGGGAA	0.557000													3	40					0	0	1	0	0
SOX11	6664	broad.mit.edu	37	2	5833260	5833260	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr2:5833260A>G	ENST00000322002.3	+	1	462	c.407A>G	c.(406-408)cAg>cGg	p.Q136R		NM_003108.3	NP_003099.1	P35716	SOX11_HUMAN	SRY (sex determining region Y)-box 11	136					cardiac ventricle formation|closure of optic fissure|cornea development in camera-type eye|embryonic digestive tract morphogenesis|embryonic skeletal system morphogenesis|eyelid development in camera-type eye|glial cell proliferation|hard palate development|lens morphogenesis in camera-type eye|limb bud formation|lung morphogenesis|negative regulation of cell death|negative regulation of glial cell proliferation|negative regulation of lymphocyte proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|neural crest cell development|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|outflow tract morphogenesis|positive regulation of BMP signaling pathway|positive regulation of hippo signaling cascade|positive regulation of hormone secretion|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of ossification|positive regulation of osteoblast differentiation|positive regulation of stem cell proliferation|regulation of transforming growth factor beta receptor signaling pathway|signal transduction involved in G1/S transition checkpoint|soft palate development|somite development|spinal cord development|sympathetic nervous system development|ventricular septum morphogenesis	cytoplasm|nucleolus	enhancer sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|translation factor activity, nucleic acid binding			central_nervous_system(5)|cervix(1)|endometrium(1)|liver(1)|lung(4)|stomach(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			OV - Ovarian serous cystadenocarcinoma(76;0.132)		AGCGCCAGCCAGAGCCCAGAG	0.701000													6	12					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9066407	9066407	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:9066407C>A	ENST00000397910.4	-	3	21242	c.21039G>T	c.(21037-21039)atG>atT	p.M7013I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7015	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						AGAGCCTTGTCATTGTTCTTG	0.512000													60	197					3.30226e-22	4.95449e-22	1	1	0
DMD	1756	broad.mit.edu	37	X	31747768	31747768	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:31747768C>G	ENST00000357033.4	-	52	7846	c.7640G>C	c.(7639-7641)aGa>aCa	p.R2547T	DMD_ENST00000378707.3_Missense_Mutation_p.R87T|DMD_ENST00000359836.1_Missense_Mutation_p.R87T|DMD_ENST00000343523.2_Missense_Mutation_p.R87T|DMD_ENST00000378677.2_Missense_Mutation_p.R2543T|DMD_ENST00000474231.1_Missense_Mutation_p.R87T|DMD_ENST00000541735.1_Missense_Mutation_p.R87T	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2547					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)				AATGATTGTTCTAGCCTCTTG	0.408000													27	77					0	0	1	0	0
FER	2241	broad.mit.edu	37	5	108380497	108380497	+	Splice_Site	SNP	G	G	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr5:108380497G>C	ENST00000281092.4	+	15	2213		c.e15+1		FER_ENST00000438717.2_Splice_Site	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase						intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		AAGAAGCCAAGTGAGttattt	0.239000													28	17					0	0	1	0	0
WIZ	58525	broad.mit.edu	37	19	15535511	15535511	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:15535511G>A	ENST00000389282.4	-	8	4726	c.4513C>T	c.(4513-4515)Cgg>Tgg	p.R1505W	WIZ_ENST00000545156.1_Missense_Mutation_p.R819W|WIZ_ENST00000599686.2_Missense_Mutation_p.R689W|WIZ_ENST00000599910.1_Missense_Mutation_p.R822W|WIZ_ENST00000263381.6_Missense_Mutation_p.R648W			O95785	WIZ_HUMAN	widely interspaced zinc finger motifs	1505						nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						TCGGCTGCCCGGCCAGCCTCG	0.726000													3	9					0	0	1	0	0
PCDHA4	56144	broad.mit.edu	37	5	140188390	140188390	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr5:140188390G>C	ENST00000530339.1	+	1	1618	c.1618G>C	c.(1618-1620)Gcc>Ccc	p.A540P	PCDHA4_ENST00000512229.2_Missense_Mutation_p.A540P|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.A540P|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018907.2	NP_061730.1														breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCTCGCGATGCCGGCGTGCC	0.657000													35	42					0	0	1	0	0
INSC	387755	broad.mit.edu	37	11	15197613	15197613	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:15197613C>A	ENST00000379554.3	+	3	570	c.524C>A	c.(523-525)tCc>tAc	p.S175Y	INSC_ENST00000424273.1_Missense_Mutation_p.S128Y|INSC_ENST00000379556.3_Missense_Mutation_p.S128Y|INSC_ENST00000530161.1_Missense_Mutation_p.S128Y|INSC_ENST00000525218.1_Missense_Mutation_p.S128Y|INSC_ENST00000528567.1_Missense_Mutation_p.S128Y	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	175					cell differentiation|nervous system development	cytoplasm	binding			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						AGCAGGAACTCCTTGAAGGAA	0.597000													5	5					0.014758	0.0151151	1	1	0
ROBO4	54538	broad.mit.edu	37	11	124757055	124757055	+	Silent	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:124757055G>T	ENST00000306534.3	-	15	2738	c.2253C>A	c.(2251-2253)atC>atA	p.I751I	RP11-664I21.5_ENST00000524453.1_RNA|ROBO4_ENST00000533054.1_Silent_p.I606I	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	751	Pro/Ser-rich.				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)		TAAGGATGGGGATGGGGGCTG	0.642000													33	98					7.63505e-26	1.17137e-25	1	1	0
DNAI2	64446	broad.mit.edu	37	17	72283194	72283194	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr17:72283194G>T	ENST00000579490.1	+	3	730	c.595G>T	c.(595-597)Gtg>Ttg	p.V199L	DNAI2_ENST00000307504.5_Intron|DNAI2_ENST00000446837.2_Missense_Mutation_p.V142L|DNAI2_ENST00000582036.1_Missense_Mutation_p.V142L|DNAI2_ENST00000311014.6_Missense_Mutation_p.V142L			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	142					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						GGCCATGGAAGTGATGGAGGA	0.527000									Kartagener syndrome				8	34					0.000157383	0.000170454	1	1	0
SEMA3C	10512	broad.mit.edu	37	7	80378225	80378225	+	Missense_Mutation	SNP	T	T	A	rs35974568		TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr7:80378225T>A	ENST00000265361.3	-	17	2392	c.1831A>T	c.(1831-1833)Agg>Tgg	p.R611W	SEMA3C_ENST00000419255.2_Missense_Mutation_p.R611W|SEMA3C_ENST00000544525.1_Missense_Mutation_p.R629W	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	611	Ig-like C2-type.				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						TCTTTCCTCCTGTCTTTGTCT	0.458000													18	99					0	0	1	0	0
GBP7	388646	broad.mit.edu	37	1	89615207	89615207	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:89615207G>A	ENST00000294671.2	-	7	1058	c.920C>T	c.(919-921)gCg>gTg	p.A307V		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	307						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)		ACAAGGAGTCGCTCCACTGTT	0.517000													4	72					0	0	1	0	0
OR2M4	26245	broad.mit.edu	37	1	248402868	248402868	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:248402868T>A	ENST00000306687.1	+	1	638	c.638T>A	c.(637-639)gTt>gAt	p.V213D		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	213					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|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;0.0245)			CCAGTTTCAGTTATCATACTT	0.468000													25	50					0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152187488	152187488	+	Missense_Mutation	SNP	C	C	A	rs139858493		TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:152187488C>A	ENST00000368801.2	-	3	6692	c.6617G>T	c.(6616-6618)gGt>gTt	p.G2206V	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2206					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)			GGAAGAACGACCTGAGCCAGA	0.607000													27	666					9.65963e-10	1.20169e-09	1	1	0
DDI1	414301	broad.mit.edu	37	11	103908164	103908164	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:103908164C>A	ENST00000302259.3	+	1	857	c.614C>A	c.(613-615)cCa>cAa	p.P205Q	PDGFD_ENST00000393158.2_Intron|PDGFD_ENST00000302251.5_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	205					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)		ACAGCCGACCCACTGGATCGG	0.502000													48	123					5.73435e-26	8.80366e-26	1	1	0
LARGE	9215	broad.mit.edu	37	22	34046550	34046550	+	Nonsense_Mutation	SNP	C	C	A	rs116164106	byFrequency	TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr22:34046550C>A	ENST00000354992.2	-	4	782	c.211G>T	c.(211-213)Gag>Tag	p.E71*	LARGE_ENST00000437602.2_Nonsense_Mutation_p.E71*|LARGE_ENST00000462606.1_5'UTR|LARGE_ENST00000337431.2_Nonsense_Mutation_p.E71*|LARGE_ENST00000397394.2_Nonsense_Mutation_p.E71*|LARGE_ENST00000402320.1_Nonsense_Mutation_p.E71*	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	71					glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|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)				TCCTCCACCTCGCGCATGCGC	0.687000													31	101					1.08312e-15	1.51178e-15	1	1	0
MAGEC3	139081	broad.mit.edu	37	X	140985549	140985549	+	Silent	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:140985549C>A	ENST00000298296.1	+	8	1863	c.1863C>A	c.(1861-1863)acC>acA	p.T621T	MAGEC3_ENST00000409007.1_3'UTR|MAGEC3_ENST00000544766.1_3'UTR|MAGEC3_ENST00000536088.1_3'UTR|MAGEC3_ENST00000443323.2_3'UTR	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	621	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)					TAATTGACACCACAGATGATG	0.483000													25	57					9.90768e-06	1.11004e-05	1	1	0
ANGEL1	23357	broad.mit.edu	37	14	77255732	77255732	+	Splice_Site	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr14:77255732C>A	ENST00000251089.2	-	10	1965		c.e10-1		ANGEL1_ENST00000557179.1_Splice_Site	NM_015305.3	NP_056120.2	Q9UNK9	ANGE1_HUMAN	angel homolog 1 (Drosophila)											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		AGCCTGTGATCTGGGGCACAA	0.562000													11	103					2.80697e-09	3.43296e-09	1	1	0
KIAA1324L	222223	broad.mit.edu	37	7	86537766	86537766	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr7:86537766T>C	ENST00000450689.2	-	17	2638	c.2453A>G	c.(2452-2454)tAt>tGt	p.Y818C	KIAA1324L_ENST00000297222.6_Missense_Mutation_p.Y578C|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.Y651C|KIAA1324L_ENST00000444627.1_Missense_Mutation_p.Y747C	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	818						integral to membrane				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					CACTTACTTATAAAAGAAATG	0.299000													18	22					0	0	1	0	0
C16orf90	646174	broad.mit.edu	37	16	3543978	3543978	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr16:3543978G>T	ENST00000437192.3	-	3	412	c.410C>A	c.(409-411)tCc>tAc	p.S137Y	LA16c-306E5.3_ENST00000574423.2_RNA	NM_001080524.1	NP_001073993.1	A8MZG2	CP090_HUMAN	chromosome 16 open reading frame 90	127										large_intestine(1)	1						GTCCATGCTGGAACTGGAAGC	0.627000													15	21					1.3612e-06	1.56654e-06	1	1	0
DPYSL4	10570	broad.mit.edu	37	10	134008381	134008381	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr10:134008381C>A	ENST00000338492.4	+	4	510	c.346C>A	c.(346-348)Ctg>Atg	p.L116M	DPYSL4_ENST00000368629.1_Missense_Mutation_p.L39M|DPYSL4_ENST00000368627.1_Missense_Mutation_p.L39M|DPYSL4_ENST00000493882.1_3'UTR	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	116					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)		GGGTGTGAGCCTGCTGGCGGC	0.657000													28	77					6.53348e-20	9.61587e-20	1	1	0
TNKS2	80351	broad.mit.edu	37	10	93593609	93593609	+	Splice_Site	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr10:93593609G>T	ENST00000371627.4	+	12	1654		c.e12-1			NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2						positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding			biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				GCTTTGTTAAGGTTAATGCTC	0.368000													6	49					0.0215528	0.0220241	1	1	0
PREX1	57580	broad.mit.edu	37	20	47268029	47268029	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr20:47268029C>T	ENST00000396220.1	-	22	2582	c.2560G>A	c.(2560-2562)Ggc>Agc	p.G854S	PREX1_ENST00000371941.3_Missense_Mutation_p.G854S			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	854					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	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			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)			TACACCACGCCGTGTTCCAGG	0.642000													12	75					0	0	1	0	0
ATP12A	479	broad.mit.edu	37	13	25262494	25262494	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr13:25262494G>A	ENST00000218548.6	+	4	599	c.266G>A	c.(265-267)cGg>cAg	p.R89Q	ATP12A_ENST00000381946.3_Missense_Mutation_p.R89Q	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	89					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	p.R89L(1)		breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	CTCCTGGCCCGGGATGGGCCC	0.577000													55	272					0	0	1	0	0
CPSF3L	54973	broad.mit.edu	37	1	1255874	1255874	+	Silent	SNP	G	G	A	rs148107611		TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:1255874G>A	ENST00000540437.1	-	5	635	c.180C>T	c.(178-180)aaC>aaT	p.N60N	CPSF3L_ENST00000421495.2_Intron|CPSF3L_ENST00000435064.1_Silent_p.N54N|CPSF3L_ENST00000450926.2_Silent_p.N54N|CPSF3L_ENST00000411962.1_Intron|CPSF3L_ENST00000419704.1_Intron|CPSF3L_ENST00000545578.1_Silent_p.N25N	NM_001256456.1	NP_001243385.1	Q5TA45	INT11_HUMAN	cleavage and polyadenylation specific factor 3-like	54						Golgi apparatus|nucleus	hydrolase activity			endometrium(4)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(3)	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;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)		TTAGGCGGCCGTTCTGGGTGA	0.592000													29	139					0	0	1	0	0
GIMAP7	168537	broad.mit.edu	37	7	150217559	150217559	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr7:150217559C>A	ENST00000313543.4	+	2	654	c.497C>A	c.(496-498)gCc>gAc	p.A166D		NM_153236.3	NP_694968.1	Q8NHV1	GIMA7_HUMAN	GTPase, IMAP family member 7	166							GTP binding			breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGCTGCTGTGCCTTTAGCAAC	0.517000													9	54					0.000274275	0.000293932	1	1	0
UGT1A5	54579	broad.mit.edu	37	2	234622397	234622397	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr2:234622397G>A	ENST00000373414.3	+	1	760	c.760G>A	c.(760-762)Gtg>Atg	p.V254M	UGT1A6_ENST00000480628.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A7_ENST00000373426.3_Intron	NM_019078.1	NP_061951.1														cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)		CCATGCATCTGTGTGGCTGTT	0.532000													97	189					0	0	1	0	0
GRM8	2918	broad.mit.edu	37	7	126173566	126173566	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr7:126173566C>A	ENST00000339582.2	-	9	2678	c.1870G>T	c.(1870-1872)Gtg>Ttg	p.V624L	GRM8_ENST00000358373.3_Missense_Mutation_p.V624L|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000444921.2_Missense_Mutation_p.V624L			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	624					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)	GTTAGGAGCACGTAACTAAGT	0.458000										HNSCC(24;0.065)			28	25					4.59853e-10	5.75907e-10	1	1	0
ZNF676	163223	broad.mit.edu	37	19	22362844	22362844	+	Nonsense_Mutation	SNP	T	T	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:22362844T>A	ENST00000397121.2	-	3	1992	c.1675A>T	c.(1675-1677)Aaa>Taa	p.K559*		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	559					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TTGTAGGGTTTCTCTCCAGTA	0.378000													19	66					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179462479	179462479	+	Silent	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr2:179462479G>T	ENST00000589042.1	-	294	57554	c.57330C>A	c.(57328-57330)atC>atA	p.I19110I	TTN_ENST00000591111.1_Silent_p.I17469I|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000359218.5_Silent_p.I10170I|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Silent_p.I10237I|TTN_ENST00000342992.6_Silent_p.I16542I|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Silent_p.I10045I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	17469	Fibronectin type-III 38.						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)			CAATGATTCGGATCACCCCTC	0.453000													16	46					1.5739e-10	1.99337e-10	1	1	0
MAP3K9	4293	broad.mit.edu	37	14	71199499	71199499	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr14:71199499G>A	ENST00000554752.2	-	11	2586	c.2587C>T	c.(2587-2589)Cca>Tca	p.P863S	MAP3K9_ENST00000554146.1_Missense_Mutation_p.P591S|MAP3K9_ENST00000555993.2_Missense_Mutation_p.P877S|MAP3K9_ENST00000381250.4_Missense_Mutation_p.P840S|MAP3K9_ENST00000553414.1_Missense_Mutation_p.P596S			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	863	Pro-rich.				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)		GGGCTGACTGGCATCTCATAC	0.582000													22	107					0	0	1	0	0
SEC62	7095	broad.mit.edu	37	3	169694773	169694773	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr3:169694773C>T	ENST00000337002.4	+	3	243	c.185C>T	c.(184-186)gCa>gTa	p.A62V	SEC62_ENST00000480708.1_Missense_Mutation_p.A62V	NM_003262.3	NP_003253.1	Q99442	SEC62_HUMAN	SEC62 homolog (S. cerevisiae)	62					cotranslational protein targeting to membrane|transmembrane transport	aggresome|endoplasmic reticulum membrane|integral to membrane|intermediate filament cytoskeleton|rough endoplasmic reticulum	protein transporter activity|receptor activity			NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	9						TCAAAGTGGGCAAAGGCCAAG	0.348000													17	46					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103230083	103230083	+	Missense_Mutation	SNP	T	T	A	rs115633553	by1000genomes	TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr7:103230083T>A	ENST00000424685.2	-	28	4264	c.4105A>T	c.(4105-4107)Aca>Tca	p.T1369S	RELN_ENST00000343529.5_Missense_Mutation_p.T1369S|RELN_ENST00000428762.1_Missense_Mutation_p.T1369S			P78509	RELN_HUMAN	reelin	1369					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)		GTGATTCTTGTCCATTCTTCA	0.448000													72	98					0	0	1	0	0
NTM	50863	broad.mit.edu	37	11	132180119	132180119	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:132180119G>A	ENST00000374786.1	+	5	1254	c.775G>A	c.(775-777)Gac>Aac	p.D259N	NTM_ENST00000474900.1_3'UTR|NTM_ENST00000374784.1_Missense_Mutation_p.D259N|NTM_ENST00000374791.3_Missense_Mutation_p.D259N|NTM_ENST00000425719.2_Missense_Mutation_p.D259N|NTM_ENST00000539799.1_Missense_Mutation_p.D259N|NTM_ENST00000427481.2_Missense_Mutation_p.D250N	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	259	Ig-like C2-type 3.				cell adhesion|neuron recognition	anchored to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						GTACAAGGATGACAAAAGGTA	0.512000													92	139					0	0	1	0	0
NRG3	10718	broad.mit.edu	37	10	84745241	84745241	+	Silent	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr10:84745241C>A	ENST00000372142.2	+	11	1654	c.1380C>A	c.(1378-1380)acC>acA	p.T460T	NRG3_ENST00000372141.2_Silent_p.T657T|NRG3_ENST00000404547.1_Silent_p.T681T|NRG3_ENST00000556918.1_Silent_p.T487T|NRG3_ENST00000537893.1_Silent_p.T307T|NRG3_ENST00000404576.2_Silent_p.T461T|NRG3_ENST00000545131.1_Silent_p.T307T	NM_001165973.1	NP_001159445.1	P56975	NRG3_HUMAN	neuregulin 3	681					regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		GCGTAGAAACCGAGGACAGTG	0.468000													14	36					0.0202918	0.0207734	1	1	0
PLEKHA8	84725	broad.mit.edu	37	7	30084792	30084792	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr7:30084792A>G	ENST00000449726.1	+	2	482	c.132A>G	c.(130-132)atA>atG	p.I44M	PLEKHA8_ENST00000483799.1_3'UTR|PLEKHA8_ENST00000396257.2_Missense_Mutation_p.I44M|PLEKHA8_ENST00000396259.1_Missense_Mutation_p.I44M|PLEKHA8_ENST00000258679.7_Missense_Mutation_p.I44M	NM_001197027.1	NP_001183956.1	Q96JA3	PKHA8_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8	44	PH.				protein transport	cytoplasm	glycolipid binding|glycolipid transporter activity			breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						AAGGGAGCATACAAATGGCAG	0.428000													22	123					0	0	1	0	0
PSAT1	29968	broad.mit.edu	37	9	80923411	80923411	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr9:80923411G>T	ENST00000376588.3	+	6	720	c.652G>T	c.(652-654)Ggg>Tgg	p.G218W	PSAT1_ENST00000347159.2_Missense_Mutation_p.G218W	NM_058179.2	NP_478059.1	Q9Y617	SERC_HUMAN	phosphoserine aminotransferase 1	218					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)	TGACCTGCTGGGGTTTGCCCT	0.522000													31	51					1.99505e-19	2.92669e-19	1	1	0
TEP1	7011	broad.mit.edu	37	14	20849099	20849099	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr14:20849099C>T	ENST00000262715.5	-	33	4793	c.4753G>A	c.(4753-4755)Gcc>Acc	p.A1585T	TEP1_ENST00000556935.1_Missense_Mutation_p.A1477T|TEP1_ENST00000545983.1_5'UTR	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1585					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)		CCATAGAGGGCATGGGCCTCC	0.577000													4	44					0	0	1	0	0
MME	4311	broad.mit.edu	37	3	154855908	154855908	+	Silent	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr3:154855908G>A	ENST00000460393.1	+	9	858	c.738G>A	c.(736-738)gtG>gtA	p.V246V	MME_ENST00000360490.2_Silent_p.V246V|MME_ENST00000492661.1_Silent_p.V246V|MME_ENST00000493237.1_Silent_p.V246V|MME_ENST00000462745.1_Silent_p.V246V	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	246					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	CAGCATATGTGGATTTTATGA	0.338000													46	128					0	0	1	0	0
PDS5B	23047	broad.mit.edu	37	13	33344515	33344515	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr13:33344515C>G	ENST00000315596.10	+	32	4067	c.3881C>G	c.(3880-3882)cCa>cGa	p.P1294R		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	1294					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		GGCCGACCACCAAAACCTCTT	0.428000													6	35					0	0	1	0	0
PRNP	5621	broad.mit.edu	37	20	4680058	4680058	+	Silent	SNP	C	C	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr20:4680058C>G	ENST00000379440.4	+	2	479	c.192C>G	c.(190-192)ggC>ggG	p.G64G	PRNP_ENST00000430350.2_Silent_p.G64G	NM_000311.3|NM_001080121.1|NM_001080122.1|NM_001080123.1|NM_001271561.1|NM_183079.2	NP_000302.1|NP_001073590.1|NP_001073591.1|NP_001073592.1|NP_001258490.1|NP_898902.1	P04156	PRIO_HUMAN	prion protein	64	5 X 8 AA tandem repeats of P-H-G-G-G-W-G- Q.|Interaction with GRB2, ERI3 and SYN1 (By similarity).				axon guidance|cell cycle arrest|cellular copper ion homeostasis|metabolic process|negative regulation of activated T cell proliferation|negative regulation of calcineurin-NFAT signaling pathway|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-2 production|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell receptor signaling pathway|protein homooligomerization|response to oxidative stress	anchored to membrane|endoplasmic reticulum|extrinsic to membrane|Golgi apparatus|membrane raft|nucleus|plasma membrane	copper ion binding|identical protein binding|microtubule binding			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	14					Tetracycline(DB00759)	ATGGTGGTGGCTGGGGGCAGC	0.706000													9	40					0	0	1	0	0
UBAP1	51271	broad.mit.edu	37	9	34249829	34249829	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr9:34249829C>T	ENST00000536252.1	+	6	1534	c.1136C>T	c.(1135-1137)cCc>cTc	p.P379L	UBAP1_ENST00000543944.1_Missense_Mutation_p.P415L|UBAP1_ENST00000359544.2_Missense_Mutation_p.P379L|UBAP1_ENST00000379186.4_Intron|UBAP1_ENST00000545103.1_Missense_Mutation_p.P443L|UBAP1_ENST00000540348.1_Missense_Mutation_p.P379L|UBAP1_ENST00000297661.4_Missense_Mutation_p.P379L	NM_001171203.2	NP_001164674.1	Q9NZ09	UBAP1_HUMAN	ubiquitin associated protein 1	379						cytoplasm				endometrium(4)|kidney(2)|lung(6)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(29;0.00272)			CCCAGCTGTCCCCAGGCCTAT	0.552000													19	70					0	0	1	0	0
POU2F1	5451	broad.mit.edu	37	1	167370762	167370762	+	Silent	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:167370762C>T	ENST00000367862.5	+	13	1726	c.1491C>T	c.(1489-1491)acC>acT	p.T497T	POU2F1_ENST00000367866.2_Silent_p.T508T|POU2F1_ENST00000420254.3_Silent_p.T485T|POU2F1_ENST00000429375.2_Silent_p.T445T|POU2F1_ENST00000541643.3_Silent_p.T485T|POU2F1_ENST00000367865.1_3'UTR	NM_001198783.1	NP_001185712.1	P14859	PO2F1_HUMAN	POU class 2 homeobox 1	485					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						TCCCTCTGACCAGTGCTGCTG	0.527000											OREG0013970	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	32					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25312992	25312992	+	RNA	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr15:25312992G>T	ENST00000549804.2	+	0	538				SNHG14_ENST00000551077.1_RNA|SNORD116-7_ENST00000384404.1_RNA																							CAAAATGAGTGAGAACTCATA	0.507000													29	61					5.77227e-19	8.38549e-19	1	1	0
UBE2I	7329	broad.mit.edu	37	16	1370540	1370540	+	Silent	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr16:1370540G>T	ENST00000402301.1	+	5	471	c.435G>T	c.(433-435)ccG>ccT	p.P145P	UBE2I_ENST00000397514.3_Intron|UBE2I_ENST00000397515.2_Intron|UBE2I_ENST00000355803.4_Intron|UBE2I_ENST00000325437.5_Intron|LA16c-358B7.3_ENST00000568106.1_RNA|UBE2I_ENST00000566587.1_Intron|UBE2I_ENST00000406620.1_Intron|UBE2I_ENST00000403747.2_Intron|LA16c-358B7.3_ENST00000567829.1_RNA			P63279	UBC9_HUMAN	ubiquitin-conjugating enzyme E2I	0					cell division|chromosome segregation|interspecies interaction between organisms|mitosis|negative regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|protein sumoylation	cytoplasm|PML body|synaptonemal complex	ATP binding|enzyme binding|ubiquitin-protein ligase activity			breast(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)	5		Hepatocellular(780;0.00369)				CCCTGGCCCCGCTGGTGGCAG	0.587000													15	51					5.3912e-06	6.07662e-06	1	1	0
CHRNA9	55584	broad.mit.edu	37	4	40351133	40351133	+	Missense_Mutation	SNP	T	T	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr4:40351133T>G	ENST00000310169.2	+	4	739	c.600T>G	c.(598-600)gaT>gaG	p.D200E		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	200					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)	TCATTGAAGATGTGGAATGGG	0.512000													6	212					0	0	1	0	0
TCP11	6954	broad.mit.edu	37	6	35107832	35107832	+	Silent	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr6:35107832G>T	ENST00000244645.3	-	3	514	c.15C>A	c.(13-15)ggC>ggA	p.G5G	TCP11_ENST00000510465.1_Intron|TCP11_ENST00000373979.2_Silent_p.G5G|TCP11_ENST00000418521.2_Intron|TCP11_ENST00000512012.1_Intron|TCP11_ENST00000444780.2_Intron|TCP11_ENST00000373974.4_Intron|TCP11_ENST00000311875.5_Intron|TCP11_ENST00000412155.2_Intron	NM_001261820.1|NM_001261821.1|NM_018679.5	NP_001248749.1|NP_001248750.1|NP_061149.1	Q8WWU5	TCP11_HUMAN	t-complex 11, testis-specific	0					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4)	27						ACCCCAATATGCCTTTTGGTG	0.393000											OREG0017369	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	45					0.0215528	0.0220241	1	1	0
KRTAP5-10	387273	broad.mit.edu	37	11	71277061	71277061	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:71277061A>G	ENST00000398531.1	+	1	453	c.428A>G	c.(427-429)aAt>aGt	p.N143S	KRTAP5-10_ENST00000376536.4_Missense_Mutation_p.N95S	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN	keratin associated protein 5-10	143	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						TCCCAGTGCAATTGCTGTAAG	0.642000													71	294					0	0	1	0	0
TAF1A	9015	broad.mit.edu	37	1	222732098	222732098	+	Silent	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:222732098C>T	ENST00000350027.4	-	11	1410	c.1257G>A	c.(1255-1257)cgG>cgA	p.R419R	TAF1A_ENST00000391882.1_Silent_p.R305R|TAF1A_ENST00000352967.4_Silent_p.R419R|TAF1A_ENST00000366890.1_Silent_p.R305R	NM_001201536.1	NP_001188465.1	Q15573	TAF1A_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kDa	419					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	RNA polymerase I transcription factor complex	DNA binding			kidney(3)|large_intestine(3)|lung(11)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(131;0.0186)		TTAAAATATACCGGAAATATC	0.274000													10	41					0	0	1	0	0
ILDR2	387597	broad.mit.edu	37	1	166904558	166904558	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:166904558G>T	ENST00000271417.3	-	6	915	c.860C>A	c.(859-861)tCc>tAc	p.S287Y	ILDR2_ENST00000525740.1_Intron|ILDR2_ENST00000528703.1_Intron|ILDR2_ENST00000529071.1_Missense_Mutation_p.S268Y|ILDR2_ENST00000529387.1_Intron|ILDR2_ENST00000469934.2_Missense_Mutation_p.S287Y|ILDR2_ENST00000526687.1_Intron	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	287						integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						TCCTCCAGTGGAGTCACTTGG	0.577000													31	88					1.61788e-16	2.29242e-16	1	1	0
TMC8	147138	broad.mit.edu	37	17	76130053	76130053	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr17:76130053A>T	ENST00000318430.5	+	7	1162	c.788A>T	c.(787-789)aAg>aTg	p.K263M	TMC8_ENST00000589691.1_Missense_Mutation_p.K40M	NM_152468.4	NP_689681.2	Q8IU68	TMC8_HUMAN	transmembrane channel-like 8	263						endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			GCCACCATCAAGAAGCATGAG	0.572000													17	66					0	0	1	0	0
CEP128	145508	broad.mit.edu	37	14	81380710	81380710	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr14:81380710G>A	ENST00000555265.1	-	4	565	c.190C>T	c.(190-192)Cga>Tga	p.R64*	CEP128_ENST00000216517.6_Nonsense_Mutation_p.R64*|CEP128_ENST00000281129.3_Nonsense_Mutation_p.R64*|CEP128_ENST00000327841.2_Nonsense_Mutation_p.R4*			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	64						centriole|spindle pole				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						TCTCGGTATCGTCCAAGCATC	0.403000													7	118					0	0	1	0	0
TSPAN12	23554	broad.mit.edu	37	7	120455809	120455809	+	Missense_Mutation	SNP	C	C	T	rs143445702		TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr7:120455809C>T	ENST00000222747.3	-	5	941	c.334G>A	c.(334-336)Gtt>Att	p.V112I	TSPAN12_ENST00000415871.1_Missense_Mutation_p.V112I	NM_012338.3	NP_036470.1	O95859	TSN12_HUMAN	tetraspanin 12	112					angiogenesis|cell surface receptor linked signaling pathway|regulation of angiogenesis|retina layer formation	integral to plasma membrane|membrane fraction				endometrium(3)|kidney(1)|lung(4)|ovary(1)|skin(1)	10	all_neural(327;0.117)					TATGTCCAAACGCCACAAGCC	0.333000													6	19					0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56202928	56202928	+	Silent	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr18:56202928G>T	ENST00000361673.3	-	5	4704	c.4491C>A	c.(4489-4491)ccC>ccA	p.P1497P	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1497							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						CGCCTTCGCTGGGTTGCAGGA	0.473000													20	39					4.35082e-09	5.30662e-09	1	1	0
PTPRZ1	5803	broad.mit.edu	37	7	121671535	121671535	+	Silent	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr7:121671535C>T	ENST00000393386.2	+	15	5499	c.5088C>T	c.(5086-5088)gtC>gtT	p.V1696V	PTPRZ1_ENST00000449182.1_Silent_p.V836V	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1696					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TAGATGATGTCGGAGCAATTC	0.313000													8	44					0	0	1	0	0
ADCY3	109	broad.mit.edu	37	2	25054603	25054603	+	Silent	SNP	A	A	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr2:25054603A>G	ENST00000260600.5	-	11	2834	c.1983T>C	c.(1981-1983)taT>taC	p.Y661Y	ADCY3_ENST00000405392.1_Silent_p.Y294Y|ADCY3_ENST00000450524.1_5'UTR	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	661					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)					TGAAGGTCACATAGTTTGTCA	0.557000													7	26					0	0	1	0	0
ZNF425	155054	broad.mit.edu	37	7	148801757	148801757	+	Silent	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr7:148801757G>A	ENST00000378061.2	-	4	1338	c.1206C>T	c.(1204-1206)gaC>gaT	p.D402D		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	402					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TGATGTGCTCGTCCAGCTTAA	0.532000													19	138					0	0	1	0	0
LPAR4	2846	broad.mit.edu	37	X	78011192	78011192	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:78011192C>A	ENST00000435339.2	+	2	1231	c.826C>A	c.(826-828)Cgc>Agc	p.R276S	LPAR4_ENST00000373301.2_Missense_Mutation_p.R276S	NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	276						integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						TGCCCTGGTGCGCTCCCAAGC	0.403000													5	32					0.014758	0.0151151	1	1	0
P2RX1	5023	broad.mit.edu	37	17	3801387	3801387	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr17:3801387G>T	ENST00000225538.3	-	11	1324	c.1050C>A	c.(1048-1050)gaC>gaA	p.D350E		NM_002558.2	NP_002549.1	P51575	P2RX1_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 1	350					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)		GCAGCAGCAGGTCACAGAGAA	0.607000													10	58					0.010729	0.0110442	1	1	0
NPC1	4864	broad.mit.edu	37	18	21115556	21115556	+	Silent	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr18:21115556G>T	ENST00000269228.5	-	22	3908	c.3354C>A	c.(3352-3354)ggC>ggA	p.G1118G	NPC1_ENST00000412552.2_Silent_p.G800G	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	1118					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)					AGAGCTCACAGCCCAGGAGGA	0.527000													9	33					0.000274275	0.000293932	1	1	0
IPPK	64768	broad.mit.edu	37	9	95397468	95397468	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr9:95397468G>A	ENST00000287996.3	-	10	1315	c.1039C>T	c.(1039-1041)Cga>Tga	p.R347*	IPPK_ENST00000375522.1_Nonsense_Mutation_p.R19*	NM_022755.5	NP_073592.1	Q9H8X2	IPPK_HUMAN	inositol 1,3,4,5,6-pentakisphosphate 2-kinase	347					inositol or phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol pentakisphosphate 2-kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(2)|urinary_tract(1)	15						TCCAGGTATCGCTCAACCCGG	0.597000											OREG0019315	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	36					0	0	1	0	0
GPR88	54112	broad.mit.edu	37	1	101005566	101005566	+	Silent	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:101005566C>T	ENST00000315033.4	+	2	1483	c.1044C>T	c.(1042-1044)cgC>cgT	p.R348R		NM_022049.2	NP_071332.2	Q9GZN0	GPR88_HUMAN	G protein-coupled receptor 88	348						integral to membrane|plasma membrane	G-protein coupled receptor activity			large_intestine(2)|skin(1)	3		all_epithelial(167;1.19e-05)|all_lung(203;0.00159)|Lung NSC(277;0.00171)		Epithelial(280;0.0372)|all cancers(265;0.0558)|COAD - Colon adenocarcinoma(174;0.141)|Colorectal(144;0.156)|Lung(183;0.189)		GCTCCGTGCGCTCAGTCCTGC	0.751000													5	11					0	0	1	0	0
PROKR1	10887	broad.mit.edu	37	2	68873024	68873024	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr2:68873024A>T	ENST00000303786.3	+	2	491	c.71A>T	c.(70-72)aAc>aTc	p.N24I	PROKR1_ENST00000394342.2_Missense_Mutation_p.N24I			Q8TCW9	PKR1_HUMAN	prokineticin receptor 1	24						integral to membrane|plasma membrane	neuropeptide Y receptor activity			endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TCTGTGCTCAACCCTCATGGA	0.522000													27	121					0	0	1	0	0
GPR12	2835	broad.mit.edu	37	13	27333176	27333176	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr13:27333176G>T	ENST00000405846.3	-	2	1010	c.789C>A	c.(787-789)tgC>tgA	p.C263*	GPR12_ENST00000381436.2_Nonsense_Mutation_p.C263*	NM_005288.3	NP_005279.1	P47775	GPR12_HUMAN	G protein-coupled receptor 12	263						integral to plasma membrane				endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(5;5.77e-05)	Breast(139;0.198)		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)		AAGGCATCCAGCAAGCAGCAA	0.562000													11	37					0.000673444	0.000712181	1	1	0
SLC30A9	10463	broad.mit.edu	37	4	42065120	42065120	+	Silent	SNP	A	A	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr4:42065120A>C	ENST00000264451.6	+	11	1194	c.1014A>C	c.(1012-1014)ccA>ccC	p.P338P		NM_006345.3	NP_006336.3	Q6PML9	ZNT9_HUMAN	solute carrier family 30 (zinc transporter), member 9	338					nucleotide-excision repair|zinc ion transport	cytoskeleton|integral to membrane|nucleus	cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						ATCCTCAACCAATAGAATCCC	0.403000													18	72					0	0	1	0	0
RAVER2	55225	broad.mit.edu	37	1	65278497	65278497	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:65278497A>T	ENST00000294428.3	+	10	1835	c.1757A>T	c.(1756-1758)aAt>aTt	p.N586I	RAVER2_ENST00000430964.2_Missense_Mutation_p.N125I|RAVER2_ENST00000371072.4_Missense_Mutation_p.N573I			Q9HCJ3	RAVR2_HUMAN	ribonucleoprotein, PTB-binding 2	586						cytoplasm|nucleus	nucleotide binding|RNA binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						CCATACTTGAATTTGGCAAGT	0.378000													5	73					0	0	1	0	0
TUBB8	347688	broad.mit.edu	37	10	93910	93910	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr10:93910C>A	ENST00000447903.2	-	4	521	c.206G>T	c.(205-207)gGg>gTg	p.G69V	TUBB8_ENST00000332708.5_3'UTR|TUBB8_ENST00000309812.4_Missense_Mutation_p.G141V|TUBB8_ENST00000413237.3_5'UTR			Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	141					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		CCCAGTCCCCCCACCCAGGGA	0.587000													14	66					2.23348e-06	2.543e-06	1	1	0
ANO4	121601	broad.mit.edu	37	12	101381337	101381337	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr12:101381337G>T	ENST00000392979.3	+	7	879	c.518G>T	c.(517-519)aGg>aTg	p.R173M	ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000538618.1_3'UTR|ANO4_ENST00000392977.3_Missense_Mutation_p.R208M	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	208						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						CAAATAAGCAGGTTTCGGAGA	0.512000										HNSCC(74;0.22)	OREG0022059	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	156	306					1.71482e-75	2.79734e-75	1	1	0
LRP4	4038	broad.mit.edu	37	11	46893175	46893175	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:46893175C>A	ENST00000378623.1	-	31	4835	c.4593G>T	c.(4591-4593)tgG>tgT	p.W1531C	LRP4-AS1_ENST00000531719.1_RNA|LRP4-AS1_ENST00000502049.2_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1531					endocytosis|negative regulation of canonical Wnt receptor signaling pathway|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)		GCGCATCCACCCAGTAGATCC	0.572000													6	20					0.0293803	0.0299002	1	1	0
ME3	10873	broad.mit.edu	37	11	86270865	86270865	+	Splice_Site	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:86270865C>A	ENST00000543262.1	-	3	510	c.183_splice	c.e3-1	p.G62_splice	ME3_ENST00000393324.3_Splice_Site_p.G62_splice|RP11-317J19.1_ENST00000524610.1_RNA|ME3_ENST00000359636.2_Splice_Site_p.G62_splice	NM_001161586.1	NP_001155058.1	Q16798	MAON_HUMAN	malic enzyme 3, NADP(+)-dependent, mitochondrial	62					aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process	mitochondrial matrix	malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding|NAD binding			endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)			NADH(DB00157)	AAGGCCATCCCCTGGGAAAAA	0.522000													21	92					1.28384e-07	1.51561e-07	1	1	0
OSMR	9180	broad.mit.edu	37	5	38885506	38885506	+	Silent	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr5:38885506G>A	ENST00000274276.3	+	6	1161	c.759G>A	c.(757-759)ttG>ttA	p.L253L	OSMR_ENST00000502536.1_Silent_p.L253L	NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	253					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)					TCAAGACTTTGCACTGTACTT	0.438000													15	186					0	0	1	0	0
VSTM2A	222008	broad.mit.edu	37	7	54610494	54610494	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr7:54610494C>T	ENST00000302287.3	+	1	477	c.71C>T	c.(70-72)tCt>tTt	p.S24F	VSTM2A_ENST00000407838.3_Missense_Mutation_p.S24F|VSTM2A_ENST00000402613.3_Missense_Mutation_p.S24F|VSTM2A_ENST00000404951.1_Missense_Mutation_p.S24F|VSTM2A_ENST00000402026.2_Missense_Mutation_p.S23F			Q8TAG5	VTM2A_HUMAN	V-set and transmembrane domain containing 2A	24						extracellular region				endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			CAAGGGCTTTCTTCTCAAGGT	0.398000													46	60					0	0	1	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178699972	178699972	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr5:178699972C>A	ENST00000251582.7	-	3	729	c.628G>T	c.(628-630)Gtg>Ttg	p.V210L	ADAMTS2_ENST00000274609.5_Missense_Mutation_p.V210L	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	210					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)		CGATACACCACATGCACACGG	0.667000													33	32					8.4185e-14	1.1382e-13	1	1	0
CASKIN2	57513	broad.mit.edu	37	17	73499758	73499758	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr17:73499758C>T	ENST00000321617.3	-	16	2248	c.1662G>A	c.(1660-1662)tgG>tgA	p.W554*	CASKIN2_ENST00000433559.2_Nonsense_Mutation_p.W472*	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	554						cytoplasm				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	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;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			AGCTGGGCAGCCACTCGGCGA	0.622000													8	55					0	0	1	0	0
TLR2	7097	broad.mit.edu	37	4	154625707	154625707	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr4:154625707G>A	ENST00000260010.6	+	1	3056	c.1648G>A	c.(1648-1650)Gca>Aca	p.A550T		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	550					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|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like 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 NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|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|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	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)				GGAGCAGCAAGCACTGGCCAA	0.507000													12	97					0	0	1	0	0
CD300LG	146894	broad.mit.edu	37	17	41931257	41931257	+	Silent	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr17:41931257C>A	ENST00000317310.4	+	4	605	c.564C>A	c.(562-564)tcC>tcA	p.S188S	CD300LG_ENST00000539718.1_Silent_p.S188S|CD300LG_ENST00000586233.1_Intron|CD300LG_ENST00000377203.4_Silent_p.S154S|CD300LG_ENST00000293396.8_Intron	NM_145273.3	NP_660316.2	Q6UXG3	CLM9_HUMAN	CD300 molecule-like family member g	188						apical plasma membrane|basolateral plasma membrane|integral to membrane|multivesicular body membrane	receptor activity			central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4)	19		Breast(137;0.0199)		BRCA - Breast invasive adenocarcinoma(366;0.115)		CAGGGACTTCCCAGTACGGGC	0.622000													30	62					2.65835e-16	3.7572e-16	1	1	0
PTPN21	11099	broad.mit.edu	37	14	88945516	88945516	+	Silent	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr14:88945516C>T	ENST00000556564.1	-	13	2543	c.2259G>A	c.(2257-2259)ggG>ggA	p.G753G	PTPN21_ENST00000328736.3_Silent_p.G753G	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	753						cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TGTGCAGGGGCCCGGCGAGCA	0.751000													29	34					0	0	1	0	0
FFAR2	2867	broad.mit.edu	37	19	35941406	35941406	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:35941406C>T	ENST00000599180.1	+	2	870	c.790C>T	c.(790-792)Ctc>Ttc	p.L264F	FFAR2_ENST00000601590.1_Intron|FFAR2_ENST00000246549.2_Missense_Mutation_p.L264F			O15552	FFAR2_HUMAN	free fatty acid receptor 2	264						integral to plasma membrane	G-protein coupled receptor activity|lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22	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)			GTTCAGTTCACTCAACGCCAG	0.572000													57	112					0	0	1	0	0
ZNF584	201514	broad.mit.edu	37	19	58928347	58928347	+	Silent	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:58928347G>T	ENST00000306910.4	+	4	985	c.462G>T	c.(460-462)gtG>gtT	p.V154V	ZNF584_ENST00000593920.1_Silent_p.V109V|ZNF584_ENST00000596921.1_3'UTR|ZNF584_ENST00000322834.7_3'UTR|ZNF584_ENST00000599238.1_3'UTR	NM_173548.1	NP_775819.1	Q8IVC4	ZN584_HUMAN	zinc finger protein 584	154					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		all_cancers(17;5.3e-17)|all_epithelial(17;3.71e-12)|Lung NSC(17;8.3e-05)|Colorectal(82;0.000147)|all_lung(17;0.000386)|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;0.0271)		AAGTCCATGTGGCAGAGAAGC	0.512000													18	44					1.45105e-14	1.99187e-14	1	1	0
C6orf10	10665	broad.mit.edu	37	6	32261734	32261734	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr6:32261734G>T	ENST00000375015.4	-	26	913	c.713C>A	c.(712-714)aCt>aAt	p.T238N	C6orf10_ENST00000442822.2_Missense_Mutation_p.T230N|C6orf10_ENST00000447241.2_Missense_Mutation_p.T239N|C6orf10_ENST00000533191.1_Missense_Mutation_p.T237N|C6orf10_ENST00000375007.4_Missense_Mutation_p.T237N|C6orf10_ENST00000527965.1_Missense_Mutation_p.T223N			Q5SRN2	CF010_HUMAN	chromosome 6 open reading frame 10	239						integral to membrane				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						AGACCTTGCAGTGCCTCCACA	0.368000													18	55					6.94344e-10	8.6523e-10	1	1	0
UNC45A	55898	broad.mit.edu	37	15	91491409	91491409	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr15:91491409C>T	ENST00000394275.2	+	15	2423	c.1588C>T	c.(1588-1590)Cgc>Tgc	p.R530C	UNC45A_ENST00000418476.2_Missense_Mutation_p.R545C	NM_001039675.1	NP_001034764.1	Q9H3U1	UN45A_HUMAN	unc-45 homolog A (C. elegans)	545					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)			AGGCACTCGGCGCTGGGCAGT	0.607000													19	124					0	0	1	0	0
MSN	4478	broad.mit.edu	37	X	64959654	64959654	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:64959654C>A	ENST00000360270.5	+	13	1805	c.1633C>A	c.(1633-1635)Cat>Aat	p.H545N	MSN_ENST00000486030.1_3'UTR	NM_002444.2	NP_002435.1	P26038	MOES_HUMAN	moesin	545					leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking	apical plasma membrane|cytoskeleton|extrinsic to membrane|microvillus membrane|nucleolus	cell adhesion molecule binding|receptor binding|structural constituent of cytoskeleton		MSN/ALK(6)	breast(4)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	43						TGACATGATCCATGCTGAGAA	0.527000			T	ALK	ALCL								21	89					6.33239e-15	8.74064e-15	1	1	0
TJP3	27134	broad.mit.edu	37	19	3750666	3750666	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:3750666C>T	ENST00000541714.2	+	21	3206	c.2744C>T	c.(2743-2745)cCg>cTg	p.P915L	TJP3_ENST00000539908.2_Missense_Mutation_p.P879L|TJP3_ENST00000262968.9_Missense_Mutation_p.P948L|TJP3_ENST00000587641.1_3'UTR|TJP3_ENST00000589378.1_Missense_Mutation_p.P924L|TJP3_ENST00000587686.1_Missense_Mutation_p.P934L|TJP3_ENST00000382008.3_Missense_Mutation_p.P929L	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	929						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)		GACTGGGGTCCGGCCACTGAC	0.562000													3	8					0	0	1	0	0
ZNF48	197407	broad.mit.edu	37	16	30409299	30409299	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr16:30409299G>T	ENST00000320159.2	+	2	1104	c.728G>T	c.(727-729)cGg>cTg	p.R243L		NM_001214906.1|NM_001214907.1|NM_001214909.1|NM_152652.2	NP_001201835.1|NP_001201836.1|NP_001201838.1|NP_689865.2	Q96MX3	ZNF48_HUMAN	zinc finger protein 48	243					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R243L(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						CGGACACACCGGGGGGAGCAG	0.652000													45	40					3.7052e-28	5.75538e-28	1	1	0
KIAA1210	57481	broad.mit.edu	37	X	118223042	118223042	+	Silent	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:118223042G>T	ENST00000402510.2	-	11	2150	c.2151C>A	c.(2149-2151)tcC>tcA	p.S717S		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	717										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						ACTCCATTTTGGATTGGGCCT	0.413000													8	60					0.00448238	0.00467627	1	1	0
TAPT1-AS1	202020	broad.mit.edu	37	4	16257879	16257879	+	RNA	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr4:16257879G>A	ENST00000570786.1	+	0	234				TAPT1-AS1_ENST00000573308.1_RNA|TAPT1-AS1_ENST00000573950.1_RNA	NR_027696.1																						TTTTTTTTTAGGTTTTCACTA	0.383000													3	2					0	0	1	0	0
VCL	7414	broad.mit.edu	37	10	75865108	75865108	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr10:75865108C>T	ENST00000211998.4	+	16	2525	c.2431C>T	c.(2431-2433)Cct>Tct	p.P811S	VCL_ENST00000417648.2_Intron|VCL_ENST00000372755.3_Missense_Mutation_p.P811S	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN	vinculin	811	N-terminal globular head.				adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface	costamere|cytosol|extracellular region|focal adhesion	actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity		VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					CATTTCCGACCCTGGTAAGCA	0.493000													11	50					0	0	1	0	0
IDO2	169355	broad.mit.edu	37	8	39872815	39872815	+	Silent	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr8:39872815C>A	ENST00000502986.2	+	11	1199	c.957C>A	c.(955-957)gcC>gcA	p.A319A	IDO2_ENST00000389060.4_Silent_p.A306A|IDO2_ENST00000343295.4_3'UTR	NM_194294.2	NP_919270.2	Q6ZQW0	I23O2_HUMAN	indoleamine 2,3-dioxygenase 2	306					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						CCCATAAGGCCTTCATAGAAG	0.473000													3	38					1	1	1	1	0
ASB16	92591	broad.mit.edu	37	17	42249669	42249669	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr17:42249669C>A	ENST00000293414.1	+	2	641	c.557C>A	c.(556-558)cCc>cAc	p.P186H		NM_080863.4	NP_543139.4	Q96NS5	ASB16_HUMAN	ankyrin repeat and SOCS box containing 16	186					intracellular signal transduction		protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|liver(2)|lung(2)|prostate(1)	14		Breast(137;0.00765)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.114)		TGCACGATCCCCGAGTCCTTG	0.582000													13	36					6.72482e-11	8.5752e-11	1	1	0
NSDHL	50814	broad.mit.edu	37	X	152027360	152027360	+	Missense_Mutation	SNP	C	C	T	rs104894909		TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:152027360C>T	ENST00000370274.3	+	4	508	c.314C>T	c.(313-315)gCg>gTg	p.A105V	NSDHL_ENST00000440023.1_Missense_Mutation_p.A105V	NM_015922.2	NP_057006.1	Q15738	NSDHL_HUMAN	NAD(P) dependent steroid dehydrogenase-like	105			A -> V (in CHILD).		cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(5)	15	Acute lymphoblastic leukemia(192;6.56e-05)				NADH(DB00157)	TTCCACTGTGCGTCACCCCCA	0.438000													7	81					0	0	1	0	0
ESR1	2099	broad.mit.edu	37	6	152265351	152265351	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr6:152265351G>T	ENST00000440973.1	+	6	1174	c.804G>T	c.(802-804)aaG>aaT	p.K268N	ESR1_ENST00000338799.5_Missense_Mutation_p.K268N|ESR1_ENST00000482101.1_3'UTR|ESR1_ENST00000456483.2_Intron|ESR1_ENST00000406599.1_Intron|ESR1_ENST00000206249.3_Missense_Mutation_p.K268N|ESR1_ENST00000443427.1_Missense_Mutation_p.K268N|ESR1_ENST00000544394.1_Missense_Mutation_p.K95N	NM_001122742.1	NP_001116214.1	P03372	ESR1_HUMAN	estrogen receptor 1	268	Hinge.|Interaction with AKAP13.|Mediates interaction with DNTTIP2.				positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)	TGAAACACAAGCGCCAGAGAG	0.468000													32	45					8.88839e-20	1.30732e-19	1	1	0
DSG3	1830	broad.mit.edu	37	18	29054177	29054177	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr18:29054177G>T	ENST00000257189.4	+	15	2278	c.2195G>T	c.(2194-2196)gGa>gTa	p.G732V		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	732					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)			ACTGAATCTGGAGGTGCTGCA	0.522000													39	43					4.14481e-20	6.10828e-20	1	1	0
PRICKLE2	166336	broad.mit.edu	37	3	64132744	64132744	+	Silent	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr3:64132744C>A	ENST00000295902.6	-	7	2007	c.1422G>T	c.(1420-1422)ccG>ccT	p.P474P	PRICKLE2_ENST00000564377.1_Silent_p.P530P	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	474						cytoplasm|nuclear membrane	zinc ion binding			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		TCAGCCTCCCCGGGTAATAGT	0.532000													42	45					2.95478e-19	4.31482e-19	1	1	0
SLCO1A2	6579	broad.mit.edu	37	12	21422688	21422688	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr12:21422688C>A	ENST00000307378.6	-	16	2527	c.1807G>T	c.(1807-1809)Gga>Tga	p.G603*	SLCO1A2_ENST00000537524.1_Nonsense_Mutation_p.G471*|SLCO1A2_ENST00000458504.1_Nonsense_Mutation_p.G471*|SLCO1A2_ENST00000452078.1_Nonsense_Mutation_p.G603*	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	603					bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						GCCGGCAATCCGAGGTAGATG	0.333000													18	56					1.45105e-14	1.99187e-14	1	1	0
PIAS2	9063	broad.mit.edu	37	18	44435527	44435527	+	Splice_Site	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr18:44435527C>T	ENST00000585916.1	-	4	635		c.e4+1		PIAS2_ENST00000324794.7_Splice_Site|PIAS2_ENST00000545673.1_Splice_Site	NM_004671.3	NP_004662.2	O75928	PIAS2_HUMAN	protein inhibitor of activated STAT, 2						androgen receptor signaling pathway|negative regulation of androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|PML body	androgen receptor binding|DNA binding|protein binding|SUMO ligase activity|transcription coactivator activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	22						TTCAAACTCACCTCAACTGAA	0.323000													9	22					0	0	1	0	0
KCNT2	343450	broad.mit.edu	37	1	196438127	196438127	+	Silent	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:196438127G>T	ENST00000367433.5	-	6	557	c.456C>A	c.(454-456)atC>atA	p.I152I	KCNT2_ENST00000451324.2_5'UTR|KCNT2_ENST00000294725.8_Silent_p.I152I|KCNT2_ENST00000367431.4_Silent_p.I152I			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	152						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						GACTTACTGAGATAATGAAGG	0.289000													5	5					0.014758	0.0151151	1	1	0
DST	667	broad.mit.edu	37	6	56336886	56336886	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr6:56336886G>A	ENST00000370754.5	-	94	22035	c.22036C>T	c.(22036-22038)Ctc>Ttc	p.L7346F	DST_ENST00000370769.4_Missense_Mutation_p.L7168F|DST_ENST00000446842.2_Missense_Mutation_p.L6842F|DST_ENST00000370788.2_Missense_Mutation_p.L4971F|DST_ENST00000361203.3_Missense_Mutation_p.L7057F|DST_ENST00000312431.6_3'UTR|DST_ENST00000244364.6_Missense_Mutation_p.L4754F|DST_ENST00000421834.2_Intron			Q03001	DYST_HUMAN	dystonin	7166	GAR.				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	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|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus 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)			GCATCATTGAGTTTCCTCCTT	0.453000													28	165					0	0	1	0	0
MRC2	9902	broad.mit.edu	37	17	60758180	60758180	+	Silent	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr17:60758180C>T	ENST00000303375.5	+	17	2895	c.2493C>T	c.(2491-2493)cgC>cgT	p.R831R		NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	831					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						AATGGCTGCGCTTCCAGGAGG	0.721000													7	27					0	0	1	0	0
CORO7	79585	broad.mit.edu	37	16	4455510	4455510	+	Silent	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr16:4455510C>A	ENST00000251166.4	-	6	691	c.546G>T	c.(544-546)ctG>ctT	p.L182L	CORO7_ENST00000423908.2_Intron|CORO7_ENST00000574025.1_Silent_p.L97L|CORO7_ENST00000539968.1_5'UTR|CORO7_ENST00000537233.2_Silent_p.L164L|CORO7-PAM16_ENST00000572467.1_Silent_p.L182L	NM_024535.4	NP_078811.3			coronin 7											breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						CCGTGCCCACCAGGGCTCCAT	0.697000													6	56					3.59834e-05	3.95641e-05	1	1	0
CACNA1A	773	broad.mit.edu	37	19	13563771	13563771	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:13563771A>G	ENST00000360228.5	-	3	457	c.458T>C	c.(457-459)aTt>aCt	p.I153T	CACNA1A_ENST00000573710.2_Missense_Mutation_p.I153T	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	153					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)	CCCAAGGGCAATGATTTTAAT	0.493000													47	131					0	0	1	0	0
SLC7A8	23428	broad.mit.edu	37	14	23596404	23596404	+	Silent	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr14:23596404C>T	ENST00000316902.7	-	11	2315	c.1590G>A	c.(1588-1590)gcG>gcA	p.A530A	SLC7A8_ENST00000422941.2_Silent_p.A306A|SLC7A8_ENST00000529705.2_Silent_p.A425A|SLC7A8_ENST00000469263.1_3'UTR|SLC7A8_ENST00000453702.1_Silent_p.A327A	NM_012244.3	NP_036376.2	Q9UHI5	LAT2_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 8	530					blood coagulation|cellular amino acid metabolic process|leukocyte migration|metal ion homeostasis|response to toxin	basolateral plasma membrane|cytoplasm|integral to plasma membrane	neutral amino acid transmembrane transporter activity|organic cation transmembrane transporter activity|peptide antigen binding|protein binding|toxin transporter activity			autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1)	24	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.00809)	L-Alanine(DB00160)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)	GGGGCTGCCCCGCCACGTCCT	0.617000													22	52					0	0	1	0	0
MAP3K11	4296	broad.mit.edu	37	11	65380566	65380566	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:65380566T>C	ENST00000309100.3	-	1	1147	c.662A>G	c.(661-663)cAg>cGg	p.Q221R		NM_002419.3	NP_002410.1	Q16584	M3K11_HUMAN	mitogen-activated protein kinase kinase kinase 11	221	Protein kinase.				activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation	centrosome|microtubule	ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1)	24						ACGGGCAATCTGCACAGCCCA	0.637000													14	59					0	0	1	0	0
CTSA	5476	broad.mit.edu	37	20	44523507	44523507	+	Silent	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr20:44523507C>T	ENST00000372484.3	+	10	1251	c.969C>T	c.(967-969)ttC>ttT	p.F323F	CTSA_ENST00000372459.2_Silent_p.F305F|CTSA_ENST00000354880.5_Silent_p.F306F|CTSA_ENST00000191018.5_Silent_p.F305F	NM_000308.2|NM_001127695.1	NP_000299.2|NP_001121167.1	P10619	PPGB_HUMAN	cathepsin A	305					intracellular protein transport|proteolysis	endoplasmic reticulum|lysosome|nucleus	enzyme activator activity|protein binding|serine-type carboxypeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				GCAACATCTTCACTCGCCTGC	0.627000													49	175					0	0	1	0	0
PRRC2A	7916	broad.mit.edu	37	6	31602529	31602529	+	Splice_Site	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr6:31602529G>T	ENST00000376033.2	+	21	5169		c.e21-1		PRRC2A_ENST00000376007.4_Splice_Site	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A							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						ACTCCTCTCAGATGAGTCAGT	0.542000													15	130					4.7546e-09	5.78967e-09	1	1	0
QSOX2	169714	broad.mit.edu	37	9	139118702	139118702	+	Missense_Mutation	SNP	C	C	T	rs144677667		TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr9:139118702C>T	ENST00000358701.5	-	2	384	c.347G>A	c.(346-348)cGc>cAc	p.R116H		NM_181701.3	NP_859052.3	Q6ZRP7	QSOX2_HUMAN	quiescin Q6 sulfhydryl oxidase 2	116	Thioredoxin.				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)		AGCTGCGACGCGAATGGCACT	0.607000											OREG0019616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	143					0	0	1	0	0
AXDND1	126859	broad.mit.edu	37	1	179414139	179414139	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:179414139A>G	ENST00000367618.3	+	16	1985	c.1598A>G	c.(1597-1599)gAt>gGt	p.D533G	AXDND1_ENST00000461179.2_3'UTR|AXDND1_ENST00000457238.2_Missense_Mutation_p.D533G	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	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						TTTACTGGGGATGTTCTACTG	0.358000													34	114					0	0	1	0	0
PRSS35	167681	broad.mit.edu	37	6	84233349	84233349	+	Silent	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr6:84233349C>T	ENST00000536636.1	+	3	534	c.189C>T	c.(187-189)ggC>ggT	p.G63G	PRSS35_ENST00000369700.3_Silent_p.G63G	NM_001170423.1	NP_001163894.1	Q8N3Z0	PRS35_HUMAN	protease, serine, 35	63					proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		CAGTGTGTGGCATCGAATGCC	0.468000													21	34					0	0	1	0	0
SRRM5	100170229	broad.mit.edu	37	19	44118417	44118417	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:44118417C>T	ENST00000607544.1	+	3	2466	c.2144C>T	c.(2143-2145)gCg>gTg	p.A715V	SRRM5_ENST00000417606.1_Missense_Mutation_p.A715V|ZNF428_ENST00000300811.3_Missense_Mutation_p.A14T|SRRM5_ENST00000526798.1_Missense_Mutation_p.A730V			B3KS81	SRRM5_HUMAN	serine/arginine repetitive matrix 5	715								p.A715V(1)|p.A14T(1)		endometrium(11)|kidney(2)|skin(1)|stomach(1)	15						TCCAAGCTGGCGTAGCCCCCA	0.627000													7	63					0	0	1	0	0
EXTL1	2134	broad.mit.edu	37	1	26349469	26349469	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:26349469A>G	ENST00000374280.3	+	1	1199	c.332A>G	c.(331-333)cAt>cGt	p.H111R		NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	111					skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-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;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		TCTGAGACTCATCGCAGGATC	0.577000													11	68					0	0	1	0	0
MYO18A	399687	broad.mit.edu	37	17	27493546	27493546	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr17:27493546C>T	ENST00000527372.1	-	2	593	c.413G>A	c.(412-414)cGc>cAc	p.R138H	MYO18A_ENST00000533112.1_Missense_Mutation_p.R138H|MYO18A_ENST00000531253.1_Missense_Mutation_p.R138H|MYO18A_ENST00000354329.4_Missense_Mutation_p.R138H	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	138					anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			GAAGGAAAAGCGCTTGACAAT	0.622000													9	36					0	0	1	0	0
FCAR	2204	broad.mit.edu	37	19	55396756	55396756	+	Silent	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:55396756G>A	ENST00000355524.3	+	3	190	c.180G>A	c.(178-180)ctG>ctA	p.L60L	FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000391724.3_Silent_p.L48L|FCAR_ENST00000469767.1_Silent_p.L60L|FCAR_ENST00000391725.3_Silent_p.L60L|FCAR_ENST00000391726.3_Silent_p.L48L|FCAR_ENST00000353758.4_Intron|FCAR_ENST00000345937.4_Silent_p.L60L|FCAR_ENST00000391723.3_Silent_p.L48L|FCAR_ENST00000359272.4_Silent_p.L48L	NM_002000.2	NP_001991.1	P24071	FCAR_HUMAN	Fc fragment of IgA, receptor for	60	Ig-like C2-type 1.				immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		TGACCCAGCTGATGATCATAA	0.468000													18	51					0	0	1	0	0
PI4KA	5297	broad.mit.edu	37	22	21080826	21080826	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr22:21080826C>T	ENST00000255882.6	-	42	5031	c.4945G>A	c.(4945-4947)Gcc>Acc	p.A1649T	PI4KA_ENST00000572273.1_Missense_Mutation_p.A1591T|PI4KA_ENST00000414196.3_Missense_Mutation_p.A401T	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1591					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)			AAGAGGATGGCGTCCTGTGGA	0.597000													17	22					0	0	1	0	0
SCD5	79966	broad.mit.edu	37	4	83582156	83582156	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr4:83582156T>C	ENST00000273908.4	-	4	878	c.644A>G	c.(643-645)cAa>cGa	p.Q215R	SCD5_ENST00000319540.4_Intron	NM_024906.2	NP_079182.2	Q86SK9	SCD5_HUMAN	stearoyl-CoA desaturase 5	0					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	13		Colorectal(4;0.0323)|Hepatocellular(203;0.115)				TATATGCCCTTGATGCCATTC	0.423000													46	265					0	0	1	0	0
NID1	4811	broad.mit.edu	37	1	236145007	236145007	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:236145007C>A	ENST00000264187.6	-	16	3213	c.3131G>T	c.(3130-3132)cGa>cTa	p.R1044L	NID1_ENST00000366595.3_Missense_Mutation_p.R911L	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	1044					cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	CACTTCTATTCGATCCAGGTT	0.517000													19	62					5.35267e-07	6.22074e-07	1	1	0
ST8SIA6	338596	broad.mit.edu	37	10	17363173	17363173	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr10:17363173G>A	ENST00000377602.4	-	8	975	c.901C>T	c.(901-903)Ccc>Tcc	p.P301S		NM_001004470.1	NP_001004470.1	P61647	SIA8F_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6	301					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						AGGTACTTGGGATGGAAAAAT	0.463000													34	235					0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22156965	22156965	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:22156965C>A	ENST00000397126.4	-	4	1019	c.871G>T	c.(871-873)Ggc>Tgc	p.G291C	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											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)				AAGGCTTTGCCACATTCTTCA	0.388000													6	49					2.0095e-06	2.29496e-06	1	1	0
KIAA1161	57462	broad.mit.edu	37	9	34372318	34372318	+	Silent	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr9:34372318C>T	ENST00000297625.7	-	2	747	c.522G>A	c.(520-522)ccG>ccA	p.P174P		NM_020702.3	NP_065753.2	Q6NSJ0	K1161_HUMAN	KIAA1161	208					carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		TGGTGACGAACGGCTGGGGCT	0.652000													3	18					0	0	1	0	0
ASIC1	41	broad.mit.edu	37	12	50475361	50475361	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr12:50475361G>A	ENST00000228468.4	+	12	2039	c.1654G>A	c.(1654-1656)Ggg>Agg	p.G552R	ASIC1_ENST00000447966.2_Missense_Mutation_p.G506R|ASIC1_ENST00000552438.1_Missense_Mutation_p.G540R	NM_020039.3	NP_064423.2	P78348	ACCN2_HUMAN	acid-sensing (proton-gated) ion channel 1	506					calcium ion transport|response to pH|signal transduction	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	CCACCCTGCCGGGATGACATA	0.637000													15	34					0	0	1	0	0
PAX6	5080	broad.mit.edu	37	11	31815228	31815228	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:31815228G>T	ENST00000419022.1	-	11	1398	c.930C>A	c.(928-930)taC>taA	p.Y310*	PAX6_ENST00000379115.4_Nonsense_Mutation_p.Y310*|PAX6_ENST00000379129.2_Nonsense_Mutation_p.Y310*|PAX6_ENST00000241001.8_Nonsense_Mutation_p.Y296*|PAX6_ENST00000379123.5_Nonsense_Mutation_p.Y296*|PAX6_ENST00000379107.2_Nonsense_Mutation_p.Y310*|PAX6_ENST00000379132.3_Nonsense_Mutation_p.Y296*|PAX6_ENST00000379111.2_Nonsense_Mutation_p.Y296*	NM_001127612.1|NM_001258462.1|NM_001258463.1	NP_001121084.1|NP_001245391.1|NP_001245392.1	P26367	PAX6_HUMAN	paired box 6	296	Pro/Ser/Thr-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)					GAATTGGTTGGTAGACACTGG	0.443000									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation				19	138					8.10497e-08	9.62385e-08	1	1	0
TRPC7	57113	broad.mit.edu	37	5	135693011	135693011	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr5:135693011C>A	ENST00000513104.1	-	2	347	c.65G>T	c.(64-66)cGt>cTt	p.R22L	TRPC7_ENST00000355180.3_Missense_Mutation_p.R22L|TRPC7_ENST00000426057.2_Missense_Mutation_p.R22L	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	22					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)			GGCCTGGCGACGGCCCTTCTC	0.597000													23	39					1.10513e-12	1.45813e-12	1	1	0
CNTNAP5	129684	broad.mit.edu	37	2	125627257	125627257	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr2:125627257C>G	ENST00000431078.1	+	21	3715	c.3351C>G	c.(3349-3351)gaC>gaG	p.D1117E		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	1117	Laminin G-like 4.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TGCAGATGGACCAGCAACTTC	0.428000													8	23					0	0	1	0	0
KLF13	51621	broad.mit.edu	37	15	31664264	31664264	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr15:31664264G>T	ENST00000307145.3	+	2	987	c.629G>T	c.(628-630)cGc>cTc	p.R210L	KLF13_ENST00000560473.1_Missense_Mutation_p.R22L	NM_015995.2	NP_057079.2	Q9Y2Y9	KLF13_HUMAN	Kruppel-like factor 13	210					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)	2		all_lung(180;3.71e-11)		all cancers(64;1.11e-18)|Epithelial(43;1.73e-14)|GBM - Glioblastoma multiforme(186;0.00016)|Colorectal(1;0.00158)|BRCA - Breast invasive adenocarcinoma(123;0.00255)|COAD - Colon adenocarcinoma(236;0.0446)|READ - Rectum adenocarcinoma(1;0.13)|Lung(196;0.171)		AAGTTCGCGCGCTCCGACGAG	0.652000													9	7					3.09899e-07	3.62599e-07	1	1	0
FRMPD3	84443	broad.mit.edu	37	X	106806403	106806403	+	Silent	SNP	G	G	C	rs137932679	by1000genomes	TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:106806403G>C	ENST00000276185.4	+	12	1188	c.1188G>C	c.(1186-1188)acG>acC	p.T396T				Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	396	FERM.					cytoskeleton				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						CTACCTTCACGGGCGTTTTGT	0.537000													32	45					0	0	1	0	0
SIGLEC8	27181	broad.mit.edu	37	19	51958853	51958853	+	Silent	SNP	A	A	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:51958853A>C	ENST00000321424.3	-	4	936	c.870T>G	c.(868-870)ccT>ccG	p.P290P	SIGLEC8_ENST00000340550.5_Silent_p.P197P|SIGLEC8_ENST00000430817.1_Silent_p.P181P	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	290	Ig-like C2-type 2.				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TCAGCCTGGCAGGGGGATTGC	0.622000													8	72					0	0	1	0	0
B3GALNT2	148789	broad.mit.edu	37	1	235617570	235617570	+	Silent	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:235617570C>T	ENST00000366600.3	-	10	1437	c.1209G>A	c.(1207-1209)ccG>ccA	p.P403P		NM_152490.2	NP_689703.1	Q8NCR0	B3GL2_HUMAN	beta-1,3-N-acetylgalactosaminyltransferase 2	403					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.0539)|Prostate(94;0.0353)	OV - Ovarian serous cystadenocarcinoma(106;0.000117)			AAGCGGGGCTCGGGTACTCCA	0.507000													10	96					0	0	1	0	0
RECQL5	9400	broad.mit.edu	37	17	73627632	73627632	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr17:73627632C>T	ENST00000317905.5	-	9	1505	c.1346G>A	c.(1345-1347)cGc>cAc	p.R449H	RECQL5_ENST00000443199.2_5'UTR|RECQL5_ENST00000423245.2_Missense_Mutation_p.R422H	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5	449					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)			GCTGCTGCTGCGCTCCAAGGC	0.672000								Other identified genes with known or suspected DNA repair function					11	93					0	0	1	0	0
PSTPIP1	9051	broad.mit.edu	37	15	77310589	77310589	+	Splice_Site	SNP	G	G	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr15:77310589G>C	ENST00000558012.1	+	2	626	c.137_splice	c.e2+1	p.R46_splice	PSTPIP1_ENST00000267939.5_Splice_Site_p.R45_splice|PSTPIP1_ENST00000559295.1_Splice_Site_p.R46_splice|PSTPIP1_ENST00000379595.3_Splice_Site_p.R46_splice	NM_003978.3	NP_003969.2	O43586	PPIP1_HUMAN	proline-serine-threonine phosphatase interacting protein 1	46	FCH.				cell adhesion|signal transduction	cleavage furrow|lamellipodium|perinuclear region of cytoplasm	catalytic activity			breast(1)|endometrium(3)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						CTGAGGCAGAGGTGAGCTGCT	0.637000													5	8					0	0	1	0	0
NLGN4X	57502	broad.mit.edu	37	X	5821596	5821596	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:5821596C>G	ENST00000381095.3	-	5	1750	c.1123G>C	c.(1123-1125)Gaa>Caa	p.E375Q	NLGN4X_ENST00000275857.6_Missense_Mutation_p.E375Q|NLGN4X_ENST00000538097.1_Missense_Mutation_p.E375Q|NLGN4X_ENST00000381093.2_Missense_Mutation_p.E395Q|NLGN4X_ENST00000381092.1_Missense_Mutation_p.E375Q	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	375					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						TTCAGGCCTTCCCCTTGGTTG	0.582000													11	35					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21233373	21233373	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr2:21233373T>A	ENST00000233242.1	-	26	6494	c.6367A>T	c.(6367-6369)Aat>Tat	p.N2123Y		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2123	Heparin-binding.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	AGATAATCATTAGCTTGCTGT	0.368000													14	19					0	0	1	0	0
CUX2	23316	broad.mit.edu	37	12	111779639	111779639	+	Silent	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr12:111779639G>T	ENST00000261726.6	+	21	3595	c.3441G>T	c.(3439-3441)ccG>ccT	p.P1147P		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1147						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						GTGAGTCCCCGGCCACCCGCT	0.667000													31	66					2.4375e-19	3.56409e-19	1	1	0
GNAS	2778	broad.mit.edu	37	20	57429587	57429587	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr20:57429587G>T	ENST00000371100.4	+	1	1819	c.1267G>T	c.(1267-1269)Ggg>Tgg	p.G423W	GNAS_ENST00000603534.1_Intron|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000306120.3_Silent_p.P359P|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000371099.2_Missense_Mutation_p.G423W|GNAS_ENST00000371102.4_Missense_Mutation_p.G423W	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|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	adenylate cyclase activity|GTP binding|GTPase 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)			TCCTGACTCCGGGGCATTCGC	0.736000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			8	7					1.76689e-08	2.12046e-08	1	1	0
YY2	404281	broad.mit.edu	37	X	21875264	21875264	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:21875264C>T	ENST00000429584.2	+	1	1160	c.662C>T	c.(661-663)cCt>cTt	p.P221L	MBTPS2_ENST00000379484.5_Intron|MBTPS2_ENST00000365779.2_Intron|MBTPS2_ENST00000465888.1_3'UTR	NM_206923.3	NP_996806.2	O15391	TYY2_HUMAN	YY2 transcription factor	221					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|plasma membrane	DNA binding|zinc ion binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	19						AAACTTCCTCCTGGGGGGTTA	0.488000													41	233					0	0	1	0	0
POM121L12	285877	broad.mit.edu	37	7	53103485	53103485	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr7:53103485C>T	ENST00000408890.4	+	1	137	c.121C>T	c.(121-123)Cag>Tag	p.Q41*		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	41										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CAGCACGCCCCAGACCACGCC	0.682000													12	75					0	0	1	0	0
GPR137	56834	broad.mit.edu	37	11	64054308	64054308	+	Silent	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:64054308C>T	ENST00000539851.1	+	2	779	c.312C>T	c.(310-312)tgC>tgT	p.C104C	GPR137_ENST00000377702.4_Silent_p.C104C|GPR137_ENST00000438980.2_Silent_p.C104C|GPR137_ENST00000313074.3_Silent_p.C104C|GPR137_ENST00000411458.1_Silent_p.C162C	NM_001177358.1	NP_001170829.1	Q96N19	G137A_HUMAN	G protein-coupled receptor 137	104						integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						GCCCCGTCTGCCTGCAGTTCT	0.612000													6	213					0	0	1	0	0
SMEK2	57223	broad.mit.edu	37	2	55826111	55826111	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr2:55826111C>T	ENST00000272313.5	-	4	689	c.362G>A	c.(361-363)cGa>cAa	p.R121Q	SMEK2_ENST00000407823.3_Missense_Mutation_p.R121Q|SMEK2_ENST00000345102.5_Missense_Mutation_p.R121Q	NM_020463.2	NP_065196.1	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)	121						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)			TTCTTCAAATCGTTCTTCTTC	0.393000													13	64					0	0	1	0	0
ACER1	125981	broad.mit.edu	37	19	6307296	6307296	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:6307296C>T	ENST00000301452.4	-	5	571	c.494G>A	c.(493-495)aGc>aAc	p.S165N		NM_133492.2	NP_597999.1	Q8TDN7	ACER1_HUMAN	alkaline ceramidase 1	165						endoplasmic reticulum membrane|integral to membrane	ceramidase activity			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)	15						CTCCTTATTGCTGGTCCTAGA	0.577000													5	39					0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196684897	196684897	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:196684897A>G	ENST00000367429.4	+	11	1934	c.1694A>G	c.(1693-1695)tAt>tGt	p.Y565C		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	565	Sushi 9.				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						CCCATATGTTATGGTAAGTAC	0.318000													25	109					0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	69046347	69046347	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr8:69046347A>G	ENST00000288368.4	+	32	4097	c.3820A>G	c.(3820-3822)Act>Gct	p.T1274A		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1274					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			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						TCTTGTGGCCACTGTCTGTGC	0.478000													3	23					0	0	1	0	0
PTCHD2	57540	broad.mit.edu	37	1	11589658	11589658	+	Silent	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:11589658C>T	ENST00000294484.6	+	14	2982	c.2844C>T	c.(2842-2844)cgC>cgT	p.R948R	PTCHD2_ENST00000389575.3_Silent_p.R948R	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	948			R -> H (in dbSNP:rs12096312).		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)		TCCACGGGCGCGTATGCATGG	0.632000													28	66					0	0	1	0	0
ILDR2	387597	broad.mit.edu	37	1	166927338	166927338	+	Splice_Site	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:166927338G>T	ENST00000271417.3	-	2	102	c.46_splice	c.e2-1	p.A16_splice	ILDR2_ENST00000525740.1_Splice_Site_p.A16_splice|ILDR2_ENST00000528703.1_Splice_Site_p.A16_splice|ILDR2_ENST00000529071.1_Splice_Site_p.A16_splice|ILDR2_ENST00000529387.1_Splice_Site_p.A16_splice|ILDR2_ENST00000469934.2_Splice_Site_p.A16_splice|ILDR2_ENST00000526687.1_Splice_Site_p.A16_splice	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	16						integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						TTCGACCATGGCTGCAAAACA	0.507000													20	94					1.96292e-10	2.47211e-10	1	1	0
PLEKHG3	26030	broad.mit.edu	37	14	65208208	65208208	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr14:65208208C>T	ENST00000247226.7	+	14	2113	c.1805C>T	c.(1804-1806)aCa>aTa	p.T602I	PLEKHG3_ENST00000484731.2_Missense_Mutation_p.T163I|PLEKHG3_ENST00000394691.1_Missense_Mutation_p.T658I|PLEKHG3_ENST00000471182.2_Missense_Mutation_p.T191I	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	658					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)		GGCAGTGCCACAGACTCCCTC	0.657000													21	57					0	0	1	0	0
WFDC9	259240	broad.mit.edu	37	20	44237410	44237410	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr20:44237410T>C	ENST00000326000.1	-	4	348	c.131A>G	c.(130-132)cAg>cGg	p.Q44R		NM_147198.3	NP_671731.1	Q8NEX5	WFDC9_HUMAN	WAP four-disulfide core domain 9	44						extracellular region				breast(1)|large_intestine(1)|liver(1)|lung(1)|prostate(1)|stomach(1)	6		Myeloproliferative disorder(115;0.0122)				ATATGGAGGCTGTACCCAGCA	0.408000													31	32					0	0	1	0	0
TNNI2	7136	broad.mit.edu	37	11	1862434	1862434	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:1862434G>T	ENST00000381906.1	+	7	519	c.450G>T	c.(448-450)gaG>gaT	p.E150D	TNNI2_ENST00000381905.3_Missense_Mutation_p.E150D|TNNI2_ENST00000381911.1_Missense_Mutation_p.E150D|TNNI2_ENST00000252898.7_Missense_Mutation_p.E150D	NM_001145829.1	NP_001139301.1	P48788	TNNI2_HUMAN	troponin I type 2 (skeletal, fast)	150					muscle filament sliding|positive regulation of transcription, DNA-dependent|skeletal muscle contraction	cytosol|nucleus|troponin complex	actin binding|troponin T binding			lung(8)|prostate(1)|urinary_tract(1)	10		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;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		AGGACACAGAGAAGGTGCGTG	0.662000													10	35					1.58986e-06	1.82314e-06	1	1	0
GABRA3	2556	broad.mit.edu	37	X	151532986	151532986	+	Silent	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:151532986C>A	ENST00000370314.4	-	2	295	c.57G>T	c.(55-57)ctG>ctT	p.L19L	GABRA3_ENST00000370311.1_Silent_p.L19L|GABRA3_ENST00000535043.1_Silent_p.L19L	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	19					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GAATATTAATCAGGAAAAGAA	0.458000													47	103					8.48111e-28	1.31375e-27	1	1	0
DACT1	51339	broad.mit.edu	37	14	59113413	59113413	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr14:59113413T>A	ENST00000395153.3	+	4	2108	c.1961T>A	c.(1960-1962)cTg>cAg	p.L654Q	DACT1_ENST00000335867.4_Missense_Mutation_p.L691Q|DACT1_ENST00000395151.3_Missense_Mutation_p.L410Q|DACT1_ENST00000556859.1_Missense_Mutation_p.L410Q|DACT1_ENST00000541264.2_Missense_Mutation_p.L410Q	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	691					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						GAAGAGGCCCTGAGGAGGGCC	0.677000													11	36					0	0	1	0	0
MAPKBP1	23005	broad.mit.edu	37	15	42113112	42113112	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr15:42113112G>T	ENST00000457542.2	+	23	2850	c.2564G>T	c.(2563-2565)gGt>gTt	p.G855V	MAPKBP1_ENST00000456763.2_Missense_Mutation_p.G861V|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.G855V|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.G738V|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.G694V	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	861										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		GTTCAGCCAGGTGTGGAACTG	0.637000													11	18					9.70103e-10	1.20484e-09	1	1	0
C1orf127	148345	broad.mit.edu	37	1	11009696	11009696	+	Silent	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:11009696G>A	ENST00000377004.4	-	11	1274	c.1275C>T	c.(1273-1275)tcC>tcT	p.S425S	C1orf127_ENST00000377008.4_Silent_p.S258S	NM_001170754.1	NP_001164225.1	B7ZLG7	B7ZLG7_HUMAN	chromosome 1 open reading frame 127	276										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)		CCAGTGCGTCGGAAGGCCGGT	0.632000													3	13					0	0	1	0	0
TTLL5	23093	broad.mit.edu	37	14	76238130	76238130	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr14:76238130G>A	ENST00000298832.9	+	21	2274	c.2069G>A	c.(2068-2070)cGc>cAc	p.R690H	TTLL5_ENST00000557636.1_Missense_Mutation_p.R704H|TTLL5_ENST00000555422.1_3'UTR|TTLL5_ENST00000554510.1_Missense_Mutation_p.R199H|TTLL5_ENST00000556893.1_Missense_Mutation_p.R241H	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	690					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)		GTTCAAATTCGCCTGATGAAA	0.428000													20	178					0	0	1	0	0
OR2T33	391195	broad.mit.edu	37	1	248437033	248437033	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:248437033C>A	ENST00000318021.2	-	1	105	c.84G>T	c.(82-84)atG>atT	p.M28I		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	28					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|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;0.0245)			TACTCAGAACCATCATGAAGA	0.483000													36	130					1.15505e-17	1.65969e-17	1	1	0
SLC52A1	55065	broad.mit.edu	37	17	4937818	4937818	+	Silent	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr17:4937818G>A	ENST00000512825.2	-	2	1495	c.84C>T	c.(82-84)aaC>aaT	p.N28N	SLC52A1_ENST00000254853.5_Silent_p.N28N|SLC52A1_ENST00000424747.1_Silent_p.N28N			Q9NWF4	RFT_HUMAN	solute carrier family 52 (riboflavin transporter), member 1	28						integral to plasma membrane	receptor activity|riboflavin transporter activity										CCCAGATCCCGTTCACAGCAG	0.627000													19	63					0	0	1	0	0
EML5	161436	broad.mit.edu	37	14	89161767	89161767	+	Silent	SNP	T	T	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr14:89161767T>A	ENST00000554922.1	-	16	2624	c.2376A>T	c.(2374-2376)atA>atT	p.I792I	EML5_ENST00000380664.5_Silent_p.I792I|EML5_ENST00000352093.5_Silent_p.I792I	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	792						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						GGCTATCATCTATGCCAACTG	0.363000													6	26					0	0	1	0	0
HOXA2	3199	broad.mit.edu	37	7	27142065	27142065	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr7:27142065C>T	ENST00000222718.5	-	1	365	c.55G>A	c.(55-57)Gct>Act	p.A19T		NM_006735.3	NP_006726.1	O43364	HXA2_HUMAN	homeobox A2	19						nucleus	sequence-specific DNA binding transcription factor activity	p.A19S(1)		breast(3)|cervix(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	22						AGGCACTCAGCGAGCGACGGC	0.478000													16	138					0	0	1	0	0
CRIPAK	285464	broad.mit.edu	37	4	1388397	1388397	+	Missense_Mutation	SNP	C	C	A	rs144588942		TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr4:1388397C>A	ENST00000324803.4	+	1	3058	c.98C>A	c.(97-99)cCg>cAg	p.P33Q		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	33					ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			GTGGAGTGCCCGCCTGCTCAC	0.642000													96	235					6.00078e-37	9.5799e-37	1	1	0
ACE2	59272	broad.mit.edu	37	X	15584482	15584482	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:15584482C>A	ENST00000427411.1	-	17	2224	c.2008G>T	c.(2008-2010)Gtg>Ttg	p.V670L	ACE2_ENST00000252519.3_Missense_Mutation_p.V670L	NM_021804.2	NP_068576.1	Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	670					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)	GCCACTCGCACATCCTCCTCC	0.408000													32	184					1.62565e-12	2.1361e-12	1	1	0
MTUS2	23281	broad.mit.edu	37	13	29599124	29599124	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr13:29599124G>T	ENST00000431530.3	+	1	377	c.319G>T	c.(319-321)Gat>Tat	p.D107Y		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	97						cytoplasm|microtubule	microtubule binding|protein homodimerization activity	p.D107N(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CAGCCTGAAAGATTTTAGACT	0.488000													6	41					0.217242	0.218313	1	1	0
GOLGA2P5	55592	broad.mit.edu	37	12	100551472	100551472	+	RNA	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr12:100551472C>A	ENST00000397112.4	-	0	1726					NR_036632.1															large_intestine(1)|lung(3)	4						CATAGCCGTGCCTGCTCCTCC	0.602000													14	40					6.31663e-08	7.5123e-08	1	1	0
C11orf30	56946	broad.mit.edu	37	11	76169296	76169296	+	Silent	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:76169296G>T	ENST00000529032.1	+	4	315	c.315G>T	c.(313-315)cgG>cgT	p.R105R	C11orf30_ENST00000525038.1_Silent_p.R119R|C11orf30_ENST00000524767.1_Silent_p.R119R|C11orf30_ENST00000533248.1_Silent_p.R119R|C11orf30_ENST00000524490.1_Silent_p.R105R|C11orf30_ENST00000334736.3_Silent_p.R105R|C11orf30_ENST00000525919.1_Silent_p.R105R|C11orf30_ENST00000343878.3_Silent_p.R105R			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	105	Interaction with BRCA2.|Interaction with ZMYND11.				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						TGATGCCCCGGCTCGTTCCCC	0.478000													26	86					1.32003e-05	1.46867e-05	1	1	0
GPR139	124274	broad.mit.edu	37	16	20043968	20043968	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr16:20043968G>T	ENST00000570682.1	-	2	451	c.151C>A	c.(151-153)Ctc>Atc	p.L51I		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	51						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						AGCTGGGAGAGGATGATCACT	0.478000													30	25					5.45727e-16	7.67921e-16	1	1	0
ATP8B3	148229	broad.mit.edu	37	19	1784932	1784932	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:1784932G>T	ENST00000539485.1	-	28	3809	c.3576C>A	c.(3574-3576)agC>agA	p.S1192R	ATP8B3_ENST00000310127.6_Missense_Mutation_p.S1182R|ATP8B3_ENST00000525591.1_Missense_Mutation_p.S1145R			O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	1182					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)		AGGACATCACGCTGAGGTCGG	0.632000													11	16					7.03913e-09	8.50688e-09	1	1	0
EP400	57634	broad.mit.edu	37	12	132466837	132466837	+	Silent	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr12:132466837G>A	ENST00000333577.4	+	6	1960	c.1851G>A	c.(1849-1851)ccG>ccA	p.P617P	EP400_ENST00000389562.2_Silent_p.P580P|EP400_ENST00000389561.2_Silent_p.P581P|EP400_ENST00000330386.6_Silent_p.P581P|EP400_ENST00000332482.4_Silent_p.P544P			Q96L91	EP400_HUMAN	E1A binding protein p400	617					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CACAGCAGCCGCAAGTGGTAG	0.657000													40	91					0	0	1	0	0
CUTC	51076	broad.mit.edu	37	10	101514356	101514356	+	Silent	SNP	T	T	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr10:101514356T>C	ENST00000370476.5	+	8	801	c.672T>C	c.(670-672)tcT>tcC	p.S224S		NM_015960.2	NP_057044.2	Q9NTM9	CUTC_HUMAN	cutC copper transporter	224					copper ion homeostasis|copper ion transport|protein tetramerization	cytoplasm|nucleus	copper ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Colorectal(252;0.234)		Epithelial(162;3e-10)|all cancers(201;2.37e-08)		TCCACTGTTCTGCTCGGTCTA	0.373000													77	191					0	0	1	0	0
FAM149A	25854	broad.mit.edu	37	4	187073101	187073101	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr4:187073101G>T	ENST00000356371.5	+	4	861	c.861G>T	c.(859-861)tgG>tgT	p.W287C	FAM149A_ENST00000503432.1_5'UTR|FAM149A_ENST00000227065.4_5'UTR|FAM149A_ENST00000502970.1_5'UTR|FAM149A_ENST00000389354.5_5'UTR|FAM149A_ENST00000514829.1_3'UTR|FAM149A_ENST00000514153.1_5'UTR			A5PLN7	F149A_HUMAN	family with sequence similarity 149, member A	287										breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25		all_cancers(14;4.27e-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;0.0066)|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;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		GGTTACTCTGGGAGGTGGAGG	0.498000													8	54					0.00829132	0.008594	1	1	0
SPEG	10290	broad.mit.edu	37	2	220312928	220312928	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr2:220312928A>T	ENST00000312358.7	+	4	1180	c.1048A>T	c.(1048-1050)Acc>Tcc	p.T350S	SPEG_ENST00000396698.1_Missense_Mutation_p.T246S|SPEG_ENST00000396695.2_5'UTR|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	350					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)		GGACACCACCACCGAAGAGAA	0.741000													12	23					0	0	1	0	0
LHX8	431707	broad.mit.edu	37	1	75609599	75609599	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:75609599G>A	ENST00000294638.5	+	7	1344	c.680G>A	c.(679-681)aGa>aAa	p.R227K	LHX8_ENST00000356261.3_Missense_Mutation_p.R217K	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8	227						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						CCAGCAAAAAGAGCTCGGACC	0.403000													14	33					0	0	1	0	0
OR1A2	26189	broad.mit.edu	37	17	3100944	3100944	+	Silent	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr17:3100944C>T	ENST00000381951.1	+	1	132	c.132C>T	c.(130-132)ctC>ctT	p.L44L		NM_012352.1	NP_036484.1	Q9Y585	OR1A2_HUMAN	olfactory receptor, family 1, subfamily A, member 2	44					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						GAAATCTGCTCATCATCTTGG	0.423000													52	74					0	0	1	0	0
AMER2	219287	broad.mit.edu	37	13	25743822	25743822	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr13:25743822C>A	ENST00000357816.2	-	3	2054	c.1579G>T	c.(1579-1581)Gtc>Ttc	p.V527F	AMER2_ENST00000381853.3_Missense_Mutation_p.V527F|AMER2_ENST00000515384.1_Missense_Mutation_p.V646F					APC membrane recruitment protein 2																		ACTCTGCGGACCAGCACTTTG	0.582000													28	60					5.45727e-16	7.67921e-16	1	1	0
RPH3AL	9501	broad.mit.edu	37	17	171085	171085	+	Missense_Mutation	SNP	C	C	T	rs111397837	byFrequency	TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr17:171085C>T	ENST00000323434.8	-	4	796	c.199G>A	c.(199-201)Gtc>Atc	p.V67I	RPH3AL_ENST00000331302.7_Missense_Mutation_p.V67I|RPH3AL_ENST00000536489.2_Missense_Mutation_p.V67I	NM_001190412.1	NP_001177341.1	Q9UNE2	RPH3L_HUMAN	rabphilin 3A-like (without C2 domains)	67	RabBD.				exocytosis|intracellular protein transport	transport vesicle membrane	cytoskeletal protein binding|Rab GTPase binding|zinc ion binding			NS(2)|breast(1)|kidney(1)|large_intestine(1)|skin(1)	6				UCEC - Uterine corpus endometrioid carcinoma (25;0.023)|all cancers(1;4.96e-06)|Epithelial(1;2.86e-05)|BRCA - Breast invasive adenocarcinoma(1;0.00453)|OV - Ovarian serous cystadenocarcinoma(1;0.0716)|LUAD - Lung adenocarcinoma(1115;0.102)|COAD - Colon adenocarcinoma(4;0.107)		TGCTCCAGGACGTCGAGCCGC	0.682000													16	62					0	0	1	0	0
REP15	387849	broad.mit.edu	37	12	27849995	27849995	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr12:27849995G>T	ENST00000310791.2	+	1	568	c.500G>T	c.(499-501)gGt>gTt	p.G167V	RP11-1060J15.4_ENST00000542660.1_RNA|RP11-1060J15.4_ENST00000536922.1_RNA|RP11-1060J15.4_ENST00000536317.1_RNA	NM_001029874.1	NP_001025045.1	Q6BDI9	REP15_HUMAN	RAB15 effector protein	167						early endosome membrane				breast(1)|cervix(1)|large_intestine(2)|lung(4)|ovary(1)	9	Lung SC(9;0.0873)					ATCATCTTTGGTATGCCAGGA	0.473000													24	37					1.10513e-12	1.45813e-12	1	1	0
DGKH	160851	broad.mit.edu	37	13	42769036	42769036	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr13:42769036G>C	ENST00000379274.2	+	17	2072	c.1643G>C	c.(1642-1644)cGg>cCg	p.R548P	DGKH_ENST00000337343.4_Missense_Mutation_p.R684P|DGKH_ENST00000536612.1_Missense_Mutation_p.R548P|DGKH_ENST00000261491.4_Missense_Mutation_p.R684P|DGKH_ENST00000540693.1_Missense_Mutation_p.R684P|DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000538674.1_Missense_Mutation_p.R439P			Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	684					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		ACTGCACCTCGGTCTCCAGAT	0.413000													18	36					0	0	1	0	0
NLRP9	338321	broad.mit.edu	37	19	56223291	56223291	+	Silent	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:56223291G>T	ENST00000332836.2	-	8	2745	c.2718C>A	c.(2716-2718)gcC>gcA	p.A906A		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	906						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)		TGAGTGCTGCGGCGATGTCGT	0.572000													15	46					2.62699e-14	3.58633e-14	1	1	0
CDH12	1010	broad.mit.edu	37	5	22078722	22078722	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr5:22078722G>T	ENST00000382254.1	-	5	1150	c.64C>A	c.(64-66)Cca>Aca	p.P22T	CDH12_ENST00000522262.1_Missense_Mutation_p.P22T|CDH12_ENST00000504376.2_Missense_Mutation_p.P22T	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	22					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.P22A(1)		NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						GGTTGTAGTGGTGTTAGGAGA	0.458000										HNSCC(59;0.17)			25	338					3.28513e-13	4.36008e-13	1	1	0
ZSCAN4	201516	broad.mit.edu	37	19	58187714	58187714	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:58187714G>T	ENST00000318203.5	+	3	898	c.201G>T	c.(199-201)agG>agT	p.R67S		NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	67	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)		GACTTTATAGGATCTTTCACT	0.398000													33	73					8.16721e-17	1.16311e-16	1	1	0
SCNN1B	6338	broad.mit.edu	37	16	23366787	23366787	+	Silent	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr16:23366787C>T	ENST00000343070.2	+	4	929	c.753C>T	c.(751-753)ttC>ttT	p.F251F	SCNN1B_ENST00000568923.1_Silent_p.F224F|SCNN1B_ENST00000307331.5_Silent_p.F296F|SCNN1B_ENST00000568085.1_Silent_p.F251F	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	251					excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding			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)	CCTGCCTATTCGGAGCTGAGC	0.622000													26	74					0	0	1	0	0
TNFRSF12A	51330	broad.mit.edu	37	16	3070412	3070412	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr16:3070412C>A	ENST00000575124.1	+	1	37	c.14C>A	c.(13-15)tCg>tAg	p.S5*	TNFRSF12A_ENST00000341627.5_Nonsense_Mutation_p.S5*|TNFRSF12A_ENST00000326577.4_Nonsense_Mutation_p.S5*|TNFRSF12A_ENST00000573001.1_Intron			Q9NP84	TNR12_HUMAN	tumor necrosis factor receptor superfamily, member 12A	5					angiogenesis|apoptosis	integral to membrane	receptor activity			lung(1)|skin(1)	2						GCTCGGGGCTCGCTGCGCCGG	0.791000													5	27					3.59834e-05	3.95641e-05	1	1	0
LHPP	64077	broad.mit.edu	37	10	126185553	126185553	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr10:126185553G>T	ENST00000368842.5	+	4	519	c.491G>T	c.(490-492)gGc>gTc	p.G164V	LHPP_ENST00000368839.1_Missense_Mutation_p.G164V|LHPP_ENST00000392757.4_Missense_Mutation_p.G164V	NM_022126.3	NP_071409.3	Q9H008	LHPP_HUMAN	phospholysine phosphohistidine inorganic pyrophosphate phosphatase	164					protein dephosphorylation	cytosol|nucleus	inorganic diphosphatase activity|magnesium ion binding|phosphohistidine phosphatase activity|protein homodimerization activity			large_intestine(2)|lung(2)	4		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;0.163)|Colorectal(40;0.187)		GAGACCTCTGGCCTGATGCTG	0.577000													42	158					5.20006e-24	7.91835e-24	1	1	0
GALNT14	79623	broad.mit.edu	37	2	31178519	31178519	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr2:31178519C>G	ENST00000349752.5	-	6	1258	c.619G>C	c.(619-621)Gac>Cac	p.D207H	GALNT14_ENST00000356174.3_Missense_Mutation_p.D174H|GALNT14_ENST00000420311.2_Missense_Mutation_p.D172H|GALNT14_ENST00000406653.1_Missense_Mutation_p.D187H|GALNT14_ENST00000324589.5_Missense_Mutation_p.D212H|GALNT14_ENST00000486564.1_5'UTR	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)	207	Catalytic subdomain A.					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)					TGGAGCCAGTCCCTGTTCACC	0.632000													25	56					0	0	1	0	0
HOXD13	3239	broad.mit.edu	37	2	176957905	176957905	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr2:176957905C>T	ENST00000392539.3	+	1	287	c.287C>T	c.(286-288)gCg>gTg	p.A96V		NM_000523.3	NP_000514.2	P35453	HXD13_HUMAN	homeobox D13	96					skeletal system development|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0526)|READ - Rectum adenocarcinoma(9;0.0678)		GCCGTTGTAGCGGCGCGCCCG	0.746000			T	NUP98	AML*								7	41					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100371106	100371106	+	RNA	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr7:100371106C>A	ENST00000542585.1	+	0	5772				ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CCAGCGGGCTCCTACCACCCG	0.637000													14	18					1.15088e-07	1.36007e-07	1	1	0
RGS7	6000	broad.mit.edu	37	1	240969627	240969627	+	Splice_Site	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:240969627C>A	ENST00000366565.1	-	15	1464		c.e15-1		RGS7_ENST00000407727.1_Splice_Site|RGS7_ENST00000366563.1_Splice_Site|RGS7_ENST00000366562.4_Splice_Site|RGS7_ENST00000366564.1_Splice_Site|RGS7_ENST00000446183.2_Splice_Site|RGS7_ENST00000348120.2_Splice_Site|RGS7_ENST00000331110.7_Splice_Site|RGS7_ENST00000401882.1_Splice_Site	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7						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)			CAGCCAGAATCTATGCAGAAT	0.478000													35	101					1.04594e-18	1.51553e-18	1	1	0
SHC1	6464	broad.mit.edu	37	1	154942566	154942566	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:154942566C>T	ENST00000448116.2	-	1	657	c.437G>A	c.(436-438)cGg>cAg	p.R146Q	SHC1_ENST00000368453.4_Missense_Mutation_p.R36Q|SHC1_ENST00000606391.1_Intron|SHC1_ENST00000368445.5_Missense_Mutation_p.R146Q|SHC1_ENST00000368450.1_Missense_Mutation_p.R36Q|SHC1_ENST00000368449.4_Intron	NM_001130040.1	NP_001123512.1	P29353	SHC1_HUMAN	SHC (Src homology 2 domain containing) transforming protein 1	146					activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|Ras protein signal transduction|regulation of epidermal growth factor receptor activity|regulation of growth	cytosol|mitochondrial matrix|Shc-EGFR complex	epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CAGCCAGCCCCGCGTGGGCTT	0.652000													14	202					0	0	1	0	0
PDGFRA	5156	broad.mit.edu	37	4	55152032	55152032	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr4:55152032C>T	ENST00000257290.5	+	18	2795	c.2464C>T	c.(2464-2466)Cgc>Tgc	p.R822C	FIP1L1_ENST00000507166.1_Missense_Mutation_p.R582C	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	822	Protein kinase.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|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.R822S(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	TCTGGCTGCTCGCAACGTCCT	0.498000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			40	82					0	0	1	0	0
COASY	80347	broad.mit.edu	37	17	40717805	40717805	+	Silent	SNP	G	G	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr17:40717805G>C	ENST00000393818.2	+	8	2070	c.1614G>C	c.(1612-1614)ccG>ccC	p.P538P	COASY_ENST00000449624.1_Silent_p.P243P|COASY_ENST00000590958.1_Silent_p.P567P|COASY_ENST00000420359.1_Silent_p.P538P|COASY_ENST00000421097.2_Silent_p.P538P	NM_025233.6	NP_079509.5	Q13057	COASY_HUMAN	CoA synthase	538	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)		TGTGGGAGCCGCATATCACCC	0.642000													27	55					0	0	1	0	0
ZNF135	7694	broad.mit.edu	37	19	58573028	58573028	+	Silent	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:58573028G>T	ENST00000401053.4	+	2	153	c.150G>T	c.(148-150)ctG>ctT	p.L50L	ZNF135_ENST00000511556.1_Silent_p.L38L|ZNF135_ENST00000506786.1_5'UTR|ZNF135_ENST00000359978.6_Silent_p.L50L|ZNF135_ENST00000313434.5_Silent_p.L38L|ZNF135_ENST00000439855.2_Silent_p.L38L	NM_001164529.1|NM_007134.1	NP_001158001.1|NP_009065.1	B4DHH9	B4DHH9_HUMAN	zinc finger protein 135	38					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		AGAGGACCCTGTACCGTGATG	0.552000													45	90					4.49093e-37	7.17973e-37	1	1	0
SLCO1B1	10599	broad.mit.edu	37	12	21377716	21377716	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr12:21377716C>G	ENST00000256958.2	+	14	1904	c.1808C>G	c.(1807-1809)tCc>tGc	p.S603C		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	603					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	ATAAAGTGGTCCACCAACAAC	0.358000													35	54					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105411923	105411923	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr14:105411923G>A	ENST00000333244.5	-	7	9984	c.9865C>T	c.(9865-9867)Cgg>Tgg	p.R3289W	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3289						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)			CCCTCCAGCCGTGCACCATCC	0.607000													5	273					0	0	1	0	0
FAM65C	140876	broad.mit.edu	37	20	49225232	49225232	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr20:49225232C>T	ENST00000327979.2	-	10	1127	c.716G>A	c.(715-717)cGg>cAg	p.R239Q	FAM65C_ENST00000045083.2_Missense_Mutation_p.R239Q|FAM65C_ENST00000535356.1_Missense_Mutation_p.R243Q			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	239										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGACTCGATCCGACCCTTGAG	0.647000													19	180					0	0	1	0	0
NAALADL1	10004	broad.mit.edu	37	11	64825656	64825656	+	Silent	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:64825656C>T	ENST00000358658.3	-	2	279	c.252G>A	c.(250-252)ctG>ctA	p.L84L	NAALADL1_ENST00000340252.4_Silent_p.L84L|NAALADL1_ENST00000355369.2_Silent_p.L84L|NAALADL1_ENST00000355721.3_Silent_p.L84L|NAALADL1_ENST00000356632.3_Silent_p.L84L|NAALADL1_ENST00000339885.2_Silent_p.L84L	NM_005468.2	NP_005459.2	Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 1	84					proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						TCCAGCGCTGCAGCAGCAGCT	0.677000													6	41					0	0	1	0	0
OBSL1	23363	broad.mit.edu	37	2	220432115	220432115	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr2:220432115C>T	ENST00000404537.1	-	4	1773	c.1717G>A	c.(1717-1719)Gga>Aga	p.G573R	OBSL1_ENST00000373873.4_Missense_Mutation_p.G573R|OBSL1_ENST00000289656.3_Missense_Mutation_p.G160R|OBSL1_ENST00000603926.1_Missense_Mutation_p.G573R|OBSL1_ENST00000373876.1_Missense_Mutation_p.G573R|OBSL1_ENST00000265318.4_Missense_Mutation_p.G573R	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	573	Fibronectin type-III.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	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)		TCCACGGCTCCGGCTTTCTCG	0.637000													3	15					0	0	1	0	0
SLC14A1	6563	broad.mit.edu	37	18	43329756	43329756	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr18:43329756C>A	ENST00000321925.4	+	10	1242	c.1010C>A	c.(1009-1011)gCt>gAt	p.A337D	SLC14A1_ENST00000589700.1_Missense_Mutation_p.L288I|SLC14A1_ENST00000591541.1_Missense_Mutation_p.A41D|SLC14A1_ENST00000436407.3_Missense_Mutation_p.A393D|SLC14A1_ENST00000402943.2_Missense_Mutation_p.A232D|SLC14A1_ENST00000502059.2_Missense_Mutation_p.A229D|SLC14A1_ENST00000586142.1_Missense_Mutation_p.A337D|SLC14A1_ENST00000535474.1_Missense_Mutation_p.A205D|SLC14A1_ENST00000415427.3_Missense_Mutation_p.A393D	NM_001128588.3|NM_001146036.2|NM_015865.6	NP_001122060.3|NP_001139508.2|NP_056949.4	Q13336	UT1_HUMAN	solute carrier family 14 (urea transporter), member 1	337						integral to plasma membrane	urea transmembrane transporter activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21						GGATTGCCAGCTTGTACCTGG	0.488000													47	47					4.21674e-32	6.66066e-32	1	1	0
DVL3	1857	broad.mit.edu	37	3	183887823	183887823	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr3:183887823G>A	ENST00000313143.3	+	14	1776	c.1528G>A	c.(1528-1530)Gat>Aat	p.D510N	EIF2B5_ENST00000444495.1_Intron|DVL3_ENST00000431765.1_Missense_Mutation_p.D493N	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	dishevelled segment polarity protein 3	510					canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			CCACGATCACGATGGCTCCAG	0.657000													29	104					0	0	1	0	0
IFNL1	282618	broad.mit.edu	37	19	39788687	39788687	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:39788687G>T	ENST00000333625.2	+	3	430	c.333G>T	c.(331-333)gaG>gaT	p.E111D		NM_172140.1	NP_742152.1			interferon, lambda 1																		CAGCCCTGGAGGACGTCCTAG	0.672000													22	61					4.87955e-14	6.6212e-14	1	1	0
HDAC5	10014	broad.mit.edu	37	17	42158177	42158177	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr17:42158177C>T	ENST00000225983.6	-	21	3007	c.2684G>A	c.(2683-2685)cGc>cAc	p.R895H	HDAC5_ENST00000586802.1_Missense_Mutation_p.R894H|HDAC5_ENST00000393622.2_Missense_Mutation_p.R894H|HDAC5_ENST00000336057.5_Missense_Mutation_p.R809H			Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	894	Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		GTTGTCATAGCGATGCAGAGA	0.572000													8	70					0	0	1	0	0
ZNF229	7772	broad.mit.edu	37	19	44933673	44933673	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:44933673G>A	ENST00000291187.4	-	6	1587	c.1265C>T	c.(1264-1266)aCa>aTa	p.T422I	ZNF229_ENST00000588931.1_Missense_Mutation_p.T428I|ZNF229_ENST00000591289.1_Intron|CTC-512J12.4_ENST00000588655.1_RNA	NM_001278510.1	NP_001265439.1	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	428					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)				CTTCTCCCCTGTGTGCAGCCT	0.537000													15	44					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132471096	132471096	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr12:132471096C>T	ENST00000333577.4	+	7	2184	c.2075C>T	c.(2074-2076)cCg>cTg	p.P692L	EP400_ENST00000389562.2_Missense_Mutation_p.P655L|EP400_ENST00000389561.2_Missense_Mutation_p.P656L|EP400_ENST00000330386.6_Missense_Mutation_p.P656L|EP400_ENST00000332482.4_Missense_Mutation_p.P619L			Q96L91	EP400_HUMAN	E1A binding protein p400	692					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.P655L(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GACCCTGCCCCGCCCTGCCCA	0.642000													18	91					0	0	1	0	0
KANK2	25959	broad.mit.edu	37	19	11305169	11305169	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:11305169C>T	ENST00000432929.2	-	3	379	c.19G>A	c.(19-21)Gtg>Atg	p.V7M	KANK2_ENST00000355150.5_Missense_Mutation_p.V7M|KANK2_ENST00000586659.1_Missense_Mutation_p.V7M|KANK2_ENST00000589359.1_Missense_Mutation_p.V7M|KANK2_ENST00000589894.1_Missense_Mutation_p.V7M	NM_001136191.2	NP_001129663.1	Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	7										endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GGAGCAGGCACGTGCAGGACC	0.637000													4	66					0	0	1	0	0
TUBB8	347688	broad.mit.edu	37	10	93914	93914	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr10:93914C>A	ENST00000447903.2	-	4	517	c.202G>T	c.(202-204)Ggt>Tgt	p.G68C	TUBB8_ENST00000332708.5_3'UTR|TUBB8_ENST00000309812.4_Missense_Mutation_p.G140C|TUBB8_ENST00000413237.3_5'UTR			Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	140					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		GTCCCCCCACCCAGGGAGTGG	0.592000													12	64					1.49906e-05	1.66537e-05	1	1	0
OR8H3	390152	broad.mit.edu	37	11	55890587	55890587	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:55890587G>T	ENST00000313472.3	+	1	739	c.739G>T	c.(739-741)Gga>Tga	p.G247*		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	247					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					TCATCTCTTGGGAGTCACCAT	0.383000													20	50					1.01871e-10	1.29314e-10	1	1	0
RRP12	23223	broad.mit.edu	37	10	99150225	99150225	+	Silent	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr10:99150225C>T	ENST00000370992.4	-	6	819	c.708G>A	c.(706-708)caG>caA	p.Q236Q	RRP12_ENST00000414986.1_Silent_p.Q175Q|RRP12_ENST00000315563.6_Intron|RRP12_ENST00000536831.1_Silent_p.Q42Q	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	236						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)		CATGGTACACCTGAAGGGTCA	0.607000													11	29					0	0	1	0	0
HPN	3249	broad.mit.edu	37	19	35551311	35551311	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:35551311G>A	ENST00000262626.2	+	8	1340	c.515G>A	c.(514-516)gGc>gAc	p.G172D	HPN_ENST00000392226.1_Missense_Mutation_p.G172D|HPN-AS1_ENST00000392227.2_RNA|HPN_ENST00000597419.1_Intron	NM_182983.2	NP_892028.1	P05981	HEPS_HUMAN	hepsin	172	Peptidase S1.				cell growth|proteolysis	cytoplasm|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Coagulation factor VIIa(DB00036)	ACCAGCTTGGGCCGGTGGCCG	0.682000													45	94					0	0	1	0	0
CXorf57	55086	broad.mit.edu	37	X	105905389	105905389	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:105905389G>T	ENST00000372548.4	+	12	2232	c.2123G>T	c.(2122-2124)cGg>cTg	p.R708L	CXorf57_ENST00000497124.1_3'UTR|CXorf57_ENST00000372544.2_Missense_Mutation_p.R611L	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57	708										NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						AGTATTCCACGGAAATTTATG	0.408000													8	80					0.000274275	0.000293932	1	1	0
KIAA1211	57482	broad.mit.edu	37	4	57182506	57182506	+	Silent	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr4:57182506G>A	ENST00000504228.1	+	6	2943	c.2838G>A	c.(2836-2838)ccG>ccA	p.P946P	KIAA1211_ENST00000541073.1_Silent_p.P939P|KIAA1211_ENST00000264229.6_Silent_p.P946P			Q6ZU35	K1211_HUMAN	KIAA1211	946	Pro-rich.									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)					CCCCGGCTCCGGAGCACGACA	0.647000													7	35					0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	57994537	57994537	+	Silent	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr3:57994537G>T	ENST00000357272.4	+	1	411	c.246G>T	c.(244-246)gtG>gtT	p.V82V	FLNB_ENST00000348383.5_Silent_p.V82V|FLNB_ENST00000358537.3_Silent_p.V82V|FLNB_ENST00000295956.4_Silent_p.V82V|FLNB_ENST00000429972.2_Silent_p.V82V|FLNB_ENST00000490882.1_Silent_p.V82V			O75369	FLNB_HUMAN	filamin B, beta	82	Actin-binding.|CH 1.				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)		ATGTGTCCGTGGCGCTCGAGT	0.657000													61	88					1.63578e-51	2.65874e-51	1	1	0
LILRB2	10288	broad.mit.edu	37	19	54782417	54782417	+	Splice_Site	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:54782417C>A	ENST00000391748.1	-	7	1083		c.e7-1		LILRB2_ENST00000391749.4_Splice_Site|LILRB2_ENST00000391746.1_Splice_Site|LILRB2_ENST00000434421.1_Splice_Site|LILRB2_ENST00000314446.5_Splice_Site	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2						cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CGGATCTGTCCTGGAGAGAAG	0.597000													12	41					3.07112e-06	3.47729e-06	1	1	0
FANCA	2175	broad.mit.edu	37	16	89828358	89828358	+	Splice_Site	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr16:89828358G>A	ENST00000389301.3	-	29	2881	c.2852_splice	c.e29+1	p.R951_splice	FANCA_ENST00000568369.1_Splice_Site_p.R951_splice	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	951			R -> Q.|R -> W.		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)		AACACTTACCGTTCAGTATCT	0.468000			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				6	44					0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57325360	57325360	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:57325360C>A	ENST00000326441.9	-	10	4813	c.4450G>T	c.(4450-4452)Ggt>Tgt	p.G1484C	PEG3_ENST00000598410.1_Missense_Mutation_p.G1360C|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.G1484C|PEG3_ENST00000593695.1_Missense_Mutation_p.G1358C|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000599935.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1484	Glu-rich.				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		ATTCCCACACCGTCAGGCTCG	0.493000													54	130					4.1673e-28	6.46422e-28	1	1	0
GLT8D2	83468	broad.mit.edu	37	12	104396965	104396965	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr12:104396965C>T	ENST00000360814.4	-	5	637	c.232G>A	c.(232-234)Gcc>Acc	p.A78T	GLT8D2_ENST00000548660.1_Missense_Mutation_p.A78T|GLT8D2_ENST00000546436.1_Missense_Mutation_p.A78T	NM_031302.3	NP_112592.1	Q9H1C3	GL8D2_HUMAN	glycosyltransferase 8 domain containing 2	78						integral to membrane	transferase activity, transferring glycosyl groups			kidney(3)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						AAGATGTTGGCGTCAGTGTTG	0.473000													20	128					0	0	1	0	0
PLEKHG2	64857	broad.mit.edu	37	19	39915327	39915327	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:39915327G>T	ENST00000425673.1	+	17	3792	c.3467G>T	c.(3466-3468)aGc>aTc	p.S1156I	PLEKHG2_ENST00000409794.3_Missense_Mutation_p.S1185I|PLEKHG2_ENST00000458508.2_Missense_Mutation_p.S1126I|PLEKHG2_ENST00000409797.2_Intron|PLEKHG2_ENST00000378550.1_Intron			Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	1185	Pro-rich.				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)			CCGGAGCCAAGCCTTACAGAT	0.562000													22	187					1.55795e-14	2.13078e-14	1	1	0
ATP5L2	267020	broad.mit.edu	37	22	43036166	43036166	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr22:43036166C>G	ENST00000505920.1	-	1	441	c.115G>C	c.(115-117)Gtt>Ctt	p.V39L	CYB5R3_ENST00000402438.1_Intron|CYB5R3_ENST00000361740.4_Intron|CYB5R3_ENST00000352397.5_Intron|CYB5R3_ENST00000407623.3_Intron|CYB5R3_ENST00000396303.3_Intron	NM_001165877.1	NP_001159349.1	Q7Z4Y8	AT5L2_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit G2	39					ATP synthesis coupled proton transport	mitochondrial proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity			endometrium(1)|kidney(1)	2						GTGGGAGGAACCAGCTCAACC	0.502000													8	20					0	0	1	0	0
SLC9A2	6549	broad.mit.edu	37	2	103311542	103311542	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr2:103311542G>T	ENST00000233969.2	+	7	1698	c.1556G>T	c.(1555-1557)gGa>gTa	p.G519V	SLC9A2_ENST00000469286.1_3'UTR	NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	519						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						GATGTTTGTGGACATTGGGGT	0.383000													30	103					2.47316e-13	3.30787e-13	1	1	0
MYBPC2	4606	broad.mit.edu	37	19	50939886	50939886	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:50939886G>T	ENST00000357701.5	+	5	409	c.358G>T	c.(358-360)Gag>Tag	p.E120*		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	120	Ig-like C2-type 1.				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)		GTACACCGTGGAGCTGCACAT	0.592000													16	71					6.94344e-10	8.6523e-10	1	1	0
F2	2147	broad.mit.edu	37	11	46748344	46748344	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:46748344C>T	ENST00000311907.5	+	9	1143	c.1087C>T	c.(1087-1089)Cgc>Tgc	p.R363C	F2_ENST00000530231.1_Missense_Mutation_p.R363C	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN	coagulation factor II (thrombin)	363		Cleavage; by factor Xa.			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|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|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)	CATCGACGGGCGCATTGTGGA	0.592000													15	118					0	0	1	0	0
DDX1	1653	broad.mit.edu	37	2	15768800	15768800	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr2:15768800G>A	ENST00000381341.2	+	23	2187	c.1798G>A	c.(1798-1800)Gta>Ata	p.V600I	DDX1_ENST00000233084.3_Missense_Mutation_p.V600I			Q92499	DDX1_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 1	600	Helicase C-terminal.|Necessary for interaction with HNRNPK.|Necessary for interaction with replicase polyprotein 1ab nsp14 of IBV.				DNA duplex unwinding|double-strand break repair|multicellular organismal development|regulation of transcription, DNA-dependent|regulation of translational initiation|spliceosome assembly|transcription, DNA-dependent	cleavage body|stress granule|tRNA-splicing ligase complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|DNA/RNA helicase activity|exonuclease activity|poly(A) RNA binding|protein binding|RNA helicase activity|transcription cofactor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(13)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)		GCAAAACTACGTACATCGAAT	0.313000													7	25					0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91603032	91603032	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr7:91603032A>T	ENST00000359028.2	+	3	317	c.92A>T	c.(91-93)cAg>cTg	p.Q31L	AKAP9_ENST00000394564.1_Missense_Mutation_p.Q19L|AKAP9_ENST00000358100.2_Missense_Mutation_p.Q31L|AKAP9_ENST00000356239.3_Missense_Mutation_p.Q19L			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	31					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TAGCTTGCCCAGTTTCGACAA	0.378000			T	BRAF	papillary thyroid								4	26					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34080453	34080453	+	Silent	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr15:34080453C>T	ENST00000389232.4	+	67	9694	c.9624C>T	c.(9622-9624)ccC>ccT	p.P3208P	RYR3_ENST00000415757.3_Silent_p.P3208P	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3208					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AAGCCAGGCCCGACCTGCTGA	0.498000													55	67					0	0	1	0	0
NTRK1	4914	broad.mit.edu	37	1	156841429	156841429	+	Silent	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:156841429G>A	ENST00000368196.3	+	7	852	c.732G>A	c.(730-732)ctG>ctA	p.L244L	NTRK1_ENST00000392302.2_Silent_p.L214L|NTRK1_ENST00000524377.1_Silent_p.L244L|NTRK1_ENST00000358660.3_Silent_p.L244L	NM_001012331.1	NP_001012331.1	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	244	Ig-like C2-type 1.				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	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)	CTGGGGGTCTGCCATCCCTGG	0.587000			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)			20	105					0	0	1	0	0
KCNH3	23416	broad.mit.edu	37	12	49943404	49943404	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr12:49943404A>G	ENST00000257981.6	+	9	1909	c.1649A>G	c.(1648-1650)aAt>aGt	p.N550S		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	550					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						GCGGTGAACAATGGCATCGAC	0.632000													7	29					0	0	1	0	0
TRAM2	9697	broad.mit.edu	37	6	52368025	52368025	+	Silent	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr6:52368025G>T	ENST00000182527.3	-	11	1082	c.1083C>A	c.(1081-1083)tcC>tcA	p.S361S	EFHC1_ENST00000433625.2_Intron	NM_012288.3	NP_036420.1	Q15035	TRAM2_HUMAN	translocation associated membrane protein 2	361					collagen biosynthetic process|protein transport|transmembrane transport	integral to membrane	protein binding			endometrium(3)|large_intestine(1)|lung(7)|prostate(1)|skin(1)	13	Lung NSC(77;0.109)					TAGTCCGTGGGGAGGTTCCGT	0.552000													28	107					1.06647e-15	1.49133e-15	1	1	0
RXFP3	51289	broad.mit.edu	37	5	33938099	33938099	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr5:33938099C>G	ENST00000330120.3	+	1	1609	c.1254C>G	c.(1252-1254)ttC>ttG	p.F418L		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	418						integral to plasma membrane	N-formyl peptide receptor activity			endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						TGCGCCCCTTCACCGCCACTA	0.706000													15	52					0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73675107	73675107	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr2:73675107G>T	ENST00000264448.6	+	8	1561	c.1450G>T	c.(1450-1452)Ggc>Tgc	p.G484C	ALMS1_ENST00000377715.1_Missense_Mutation_p.G484C|ALMS1_ENST00000409009.1_Missense_Mutation_p.G442C	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	484					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						TTCTAAAGGAGGCATAGCTAA	0.358000													26	57					1.04121e-07	1.23503e-07	1	1	0
PCDH20	64881	broad.mit.edu	37	13	61986209	61986209	+	Missense_Mutation	SNP	C	C	T	rs147088518		TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr13:61986209C>T	ENST00000409186.1	-	5	4128	c.2023G>A	c.(2023-2025)Gcc>Acc	p.A675T	PCDH20_ENST00000409204.4_Missense_Mutation_p.A675T			Q8N6Y1	PCD20_HUMAN	protocadherin 20	648	Cadherin 5.				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)		ACAGAGAGGGCGACCCATCCA	0.458000													22	67					0	0	1	0	0
DUPD1	338599	broad.mit.edu	37	10	76797741	76797741	+	Silent	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr10:76797741G>A	ENST00000338487.5	-	3	515	c.516C>T	c.(514-516)gaC>gaT	p.D172D		NM_001003892.1	NP_001003892.1	Q68J44	DUPD1_HUMAN	dual specificity phosphatase and pro isomerase domain containing 1	172	Tyrosine-protein phosphatase.					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(2)|lung(5)|ovary(2)|urinary_tract(1)	11	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					GCTGGATGGCGTCCACCAGGG	0.627000													10	41					0	0	1	0	0
H1FOO	132243	broad.mit.edu	37	3	129267890	129267890	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr3:129267890C>A	ENST00000324382.2	+	3	430	c.425C>A	c.(424-426)cCc>cAc	p.P142H	H1FOO_ENST00000503977.1_Missense_Mutation_p.P3H	NM_153833.1	NP_722575.1	Q8IZA3	H1FOO_HUMAN	H1 histone family, member O, oocyte-specific	142					meiosis|nucleosome assembly	cytoplasm|nucleosome	DNA binding			endometrium(1)|lung(4)|skin(1)	6						AAGATGGCCCCCGCGACGGCT	0.617000													4	17					0.150653	0.15194	1	1	0
PYGB	5834	broad.mit.edu	37	20	25255300	25255300	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr20:25255300G>A	ENST00000216962.4	+	5	711	c.601G>A	c.(601-603)Gtg>Atg	p.V201M		NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	201					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)	TATGCTTCCCGTGCACTTCTA	0.632000													7	220					0	0	1	0	0
TUBA3C	7278	broad.mit.edu	37	13	19753492	19753492	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr13:19753492G>T	ENST00000400113.3	-	2	319	c.215C>A	c.(214-216)cCc>cAc	p.P72H		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	72					'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)		GACCACAGTGGGCTCCAGGTC	0.577000													8	63					5.4927e-09	6.65953e-09	1	1	0
RABGGTA	5875	broad.mit.edu	37	14	24735664	24735664	+	Silent	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr14:24735664C>T	ENST00000399409.3	-	15	2010	c.1527G>A	c.(1525-1527)cgG>cgA	p.R509R	RABGGTA_ENST00000216840.6_Silent_p.R509R|RABGGTA_ENST00000560777.1_Silent_p.R118R	NM_004581.5	NP_004572.3	Q92696	PGTA_HUMAN	Rab geranylgeranyltransferase, alpha subunit	509					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)		GCTCCTGCAGCCGGGGTAGGT	0.612000													31	77					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228474665	228474665	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:228474665G>T	ENST00000570156.2	+	40	10830	c.10756G>T	c.(10756-10758)Gcc>Tcc	p.A3586S	OBSCN_ENST00000366707.4_Missense_Mutation_p.A276S|OBSCN_ENST00000366709.4_Missense_Mutation_p.A276S|OBSCN_ENST00000284548.11_Missense_Mutation_p.A3157S|OBSCN_ENST00000359599.6_Missense_Mutation_p.A2004S|OBSCN_ENST00000422127.1_Missense_Mutation_p.A3157S	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2619	Ig-like 36.				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	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor 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)				CATCACTGGGGCCACCCTGCA	0.667000													4	26					0.150653	0.15194	1	1	0
MED23	9439	broad.mit.edu	37	6	131921227	131921227	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr6:131921227G>T	ENST00000403834.3	-	18	2362	c.2189C>A	c.(2188-2190)cCt>cAt	p.P730H	MED23_ENST00000545957.1_Missense_Mutation_p.P365H|MED23_ENST00000368060.3_Missense_Mutation_p.P724H|MED23_ENST00000368058.1_Missense_Mutation_p.P730H|MED23_ENST00000354577.4_Missense_Mutation_p.P730H|MED23_ENST00000540546.1_Missense_Mutation_p.P730H|MED23_ENST00000368053.4_Missense_Mutation_p.P730H|MED23_ENST00000368068.3_Missense_Mutation_p.P724H			Q9ULK4	MED23_HUMAN	mediator complex subunit 23	724					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		CCAATTATGAGGAGTGAAACT	0.378000													8	32					3.09899e-07	3.62599e-07	1	1	0
YWHAZ	7534	broad.mit.edu	37	8	101937183	101937183	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr8:101937183G>A	ENST00000395957.2	-	4	720	c.379C>T	c.(379-381)Cgt>Tgt	p.R127C	YWHAZ_ENST00000395951.3_Missense_Mutation_p.R127C|YWHAZ_ENST00000395953.2_Missense_Mutation_p.R127C|YWHAZ_ENST00000395956.3_Missense_Mutation_p.R127C|YWHAZ_ENST00000395958.2_Missense_Mutation_p.R127C|YWHAZ_ENST00000395948.2_Missense_Mutation_p.R50C|YWHAZ_ENST00000353245.3_Missense_Mutation_p.R127C|YWHAZ_ENST00000521309.1_Missense_Mutation_p.R7C|YWHAZ_ENST00000522819.1_Missense_Mutation_p.R7C|YWHAZ_ENST00000522542.1_Missense_Mutation_p.R52C|YWHAZ_ENST00000457309.1_Missense_Mutation_p.R127C|YWHAZ_ENST00000419477.2_Missense_Mutation_p.R127C			P63104	1433Z_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta polypeptide	127		Interaction with phosphoserine on interacting protein (By similarity).			anti-apoptosis|mRNA metabolic process|platelet activation|signal transduction	cytosol|melanosome	transcription factor binding			large_intestine(1)|lung(2)	3	all_cancers(14;7.43e-06)|all_epithelial(15;2.77e-08)|Lung NSC(17;6.08e-05)|all_lung(17;0.000197)		Epithelial(11;2.79e-11)|all cancers(13;5.45e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.75e-05)		Ginkgo biloba(DB01381)	GCCAAGTAACGGTAGTAATCT	0.383000													24	52					0	0	1	0	0
FGFR1	2260	broad.mit.edu	37	8	38277189	38277189	+	Silent	SNP	T	T	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr8:38277189T>A	ENST00000447712.2	-	9	2087	c.1146A>T	c.(1144-1146)acA>acT	p.T382T	FGFR1_ENST00000397108.4_Silent_p.T380T|FGFR1_ENST00000397091.5_Silent_p.T380T|FGFR1_ENST00000425967.3_Silent_p.T413T|FGFR1_ENST00000532791.1_Silent_p.T382T|FGFR1_ENST00000335922.5_Silent_p.T374T|FGFR1_ENST00000341462.5_Silent_p.T382T|FGFR1_ENST00000356207.5_Silent_p.T293T|FGFR1_ENST00000326324.6_Silent_p.T291T|FGFR1_ENST00000397113.2_Silent_p.T380T|FGFR1_ENST00000397103.1_Silent_p.T293T	NM_001174063.1|NM_015850.3|NM_023110.2	NP_001167534.1|NP_056934.2|NP_075598.2	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	382					axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity		FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)	GGAAGGCCCCTGTGCAATAGA	0.557000		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""						19	29					0	0	1	0	0
DOCK2	1794	broad.mit.edu	37	5	169468088	169468088	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr5:169468088T>A	ENST00000256935.8	+	37	3775	c.3695T>A	c.(3694-3696)cTg>cAg	p.L1232Q	DOCK2_ENST00000540750.1_Missense_Mutation_p.L293Q|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.L724Q	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1232	DHR-2.|Interaction with CRKL.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GATCTTCACCTGGACTGTGAC	0.512000													21	28					0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76938077	76938077	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:76938077C>T	ENST00000373344.5	-	9	2885	c.2671G>A	c.(2671-2673)Gca>Aca	p.A891T	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.A853T	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	891					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	GTGCCTTCTGCTGAAGAGAAA	0.413000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						91	161					0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65242017	65242017	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr14:65242017C>A	ENST00000389722.3	-	22	4721	c.4668G>T	c.(4666-4668)gaG>gaT	p.E1556D	SPTB_ENST00000556626.1_Missense_Mutation_p.E1556D|SPTB_ENST00000542895.1_Missense_Mutation_p.E1556D|SPTB_ENST00000389720.3_Missense_Mutation_p.E1556D|SPTB_ENST00000389721.5_Missense_Mutation_p.E1556D	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1556					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)		CCAGGCGCTCCTCAAGGTCCT	0.667000													13	30					4.3838e-07	5.10798e-07	1	1	0
HPCAL1	3241	broad.mit.edu	37	2	10560060	10560060	+	Silent	SNP	C	C	A	rs142524922		TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr2:10560060C>A	ENST00000381765.3	+	4	703	c.177C>A	c.(175-177)ggC>ggA	p.G59G	HPCAL1_ENST00000307845.3_Silent_p.G59G	NM_134421.2	NP_602293.1	P37235	HPCL1_HUMAN	hippocalcin-like 1	59							calcium ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.214)		TCCCCTACGGCGACGCTTCCA	0.602000													8	69					0.000157383	0.000170454	1	1	0
FMO1	2326	broad.mit.edu	37	1	171227350	171227350	+	Nonsense_Mutation	SNP	A	A	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:171227350A>T	ENST00000354841.4	+	1	255	c.124A>T	c.(124-126)Aga>Tga	p.R42*	FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000402921.2_Nonsense_Mutation_p.R42*|FMO1_ENST00000367750.3_Nonsense_Mutation_p.R42*			Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	42					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GGGGCTGTGGAGATTCACCGT	0.537000													38	145					0	0	1	0	0
LILRP2	79166	broad.mit.edu	37	19	55221478	55221478	+	RNA	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:55221478G>T	ENST00000413439.1	+	0	1258																											ACCTCGTCCAGGGCTCTGGCC	0.637000													17	40					3.52763e-06	3.99016e-06	1	1	0
SCLT1	132320	broad.mit.edu	37	4	129867217	129867217	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr4:129867217C>A	ENST00000281142.5	-	16	1887	c.1384G>T	c.(1384-1386)Gat>Tat	p.D462Y	SCLT1_ENST00000434680.1_Intron|SCLT1_ENST00000439369.2_Intron|SCLT1_ENST00000503215.1_Intron|SCLT1_ENST00000502495.1_5'UTR	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	462						centrosome				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						AGCTGAAGATCATCTTTTGAA	0.353000													7	19					0.000157383	0.000170454	1	1	0
HTRA2	27429	broad.mit.edu	37	2	74758070	74758070	+	Silent	SNP	A	A	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr2:74758070A>T	ENST00000258080.3	+	3	1374	c.744A>T	c.(742-744)tcA>tcT	p.S248S	HTRA2_ENST00000352222.3_Intron|HTRA2_ENST00000467961.1_3'UTR	NM_013247.4	NP_037379.1	O43464	HTRA2_HUMAN	HtrA serine peptidase 2	248	Serine protease.				apoptosis|proteolysis|response to stress	CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus	serine-type endopeptidase activity|unfolded protein binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						TGGGACGCTCAGCTGATGTCC	0.547000													104	218					0	0	1	0	0
PPM1H	57460	broad.mit.edu	37	12	63060986	63060986	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr12:63060986G>A	ENST00000228705.6	-	9	1669	c.1369C>T	c.(1369-1371)Cct>Tct	p.P457S	PPM1H_ENST00000551214.1_5'UTR	NM_020700.1	NP_065751.1	Q9ULR3	PPM1H_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1H	457	PP2C-like.						phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)	18			GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209)	GBM - Glioblastoma multiforme(28;0.0126)		TCACAGTTAGGAAGAAACTGA	0.403000													7	22					0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166245269	166245269	+	Missense_Mutation	SNP	T	T	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr2:166245269T>G	ENST00000357398.3	+	27	5243	c.4953T>G	c.(4951-4953)ttT>ttG	p.F1651L	SCN2A_ENST00000375437.2_Missense_Mutation_p.F1651L|SCN2A_ENST00000283256.6_Missense_Mutation_p.F1651L|SCN2A_ENST00000375427.2_Missense_Mutation_p.F1651L			Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1651					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)	CGCTGCTCTTTGCTTTGATGA	0.498000													44	110					0	0	1	0	0
RNF133	168433	broad.mit.edu	37	7	122338380	122338380	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr7:122338380G>A	ENST00000340112.2	-	1	830	c.593C>T	c.(592-594)aCa>aTa	p.T198I	CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000313070.7_Intron	NM_139175.1	NP_631914.1	Q8WVZ7	RN133_HUMAN	ring finger protein 133	198						endoplasmic reticulum membrane|integral to membrane	ligase activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						GGTAGCAGTTGTGACAATCAC	0.398000													21	74					0	0	1	0	0
CEP350	9857	broad.mit.edu	37	1	179989822	179989822	+	Silent	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:179989822C>T	ENST00000367607.3	+	12	3331	c.2913C>T	c.(2911-2913)gcC>gcT	p.A971A		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	971						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						AAGACAAAGCCAAAATATCTC	0.498000													48	159					0	0	1	0	0
ESM1	11082	broad.mit.edu	37	5	54281295	54281295	+	Silent	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr5:54281295C>T	ENST00000381405.4	-	1	196	c.51G>A	c.(49-51)gtG>gtA	p.V17V	ESM1_ENST00000598310.1_Intron|ESM1_ENST00000381403.4_Silent_p.V17V	NM_007036.4	NP_008967.1	Q9NQ30	ESM1_HUMAN	endothelial cell-specific molecule 1	17					angiogenesis|regulation of cell growth	extracellular region	growth factor activity|insulin-like growth factor binding			breast(1)|kidney(1)|large_intestine(4)|lung(4)	10		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.116)	Lung(15;0.23)			TCCAGGCGGCCACCAGGTGTG	0.602000													22	20					0	0	1	0	0
CD22	933	broad.mit.edu	37	19	35829151	35829151	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:35829151C>A	ENST00000085219.5	+	6	1132	c.1066C>A	c.(1066-1068)Ctg>Atg	p.L356M	CD22_ENST00000341773.6_Intron|CD22_ENST00000594250.1_Intron|CD22_ENST00000544992.2_Missense_Mutation_p.L356M|CD22_ENST00000270311.6_Missense_Mutation_p.L236M|CD22_ENST00000419549.2_Missense_Mutation_p.L184M|CD22_ENST00000536635.2_Intron	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	356	Ig-like C2-type 3.				cell adhesion		protein binding|sugar binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	TTGCATGTCACTGGCCAATCC	0.537000													25	86					2.36697e-06	2.69362e-06	1	1	0
COL21A1	81578	broad.mit.edu	37	6	55935559	55935559	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr6:55935559C>A	ENST00000244728.5	-	21	2400	c.2003G>T	c.(2002-2004)gGg>gTg	p.G668V	COL21A1_ENST00000535941.1_Missense_Mutation_p.G668V|COL21A1_ENST00000370819.1_Missense_Mutation_p.G665V|COL21A1_ENST00000467045.1_5'UTR|COL21A1_ENST00000370808.2_Missense_Mutation_p.G68V	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	668					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)			CCCAGAAGCCCCAGGCATCCC	0.303000													11	27					4.3838e-07	5.10798e-07	1	1	0
PEG3	5178	broad.mit.edu	37	19	57335046	57335046	+	Splice_Site	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:57335046G>A	ENST00000326441.9	-	5	759	c.394_splice	c.e5-1	p.D132_splice	ZIM2_ENST00000593931.1_Splice_Site_p.D6_splice|PEG3_ENST00000598410.1_Splice_Site_p.D6_splice|ZIM2_ENST00000221722.5_Splice_Site_p.D6_splice|ZIM2_ENST00000593711.1_Splice_Site_p.D6_splice|ZIM2_ENST00000601070.1_Splice_Site_p.D6_splice|PEG3_ENST00000423103.2_Splice_Site_p.D132_splice|PEG3_ENST00000593695.1_Splice_Site_p.D6_splice|ZIM2_ENST00000391708.3_Splice_Site_p.D6_splice|ZIM2_ENST00000599935.1_Splice_Site_p.D6_splice	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	132					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TGTTGTTGTCGTCTAAGAGGA	0.532000													17	69					0	0	1	0	0
ABL1	25	broad.mit.edu	37	9	133753854	133753854	+	Silent	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr9:133753854G>A	ENST00000318560.5	+	8	1704	c.1323G>A	c.(1321-1323)ccG>ccA	p.P441P		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	c-abl oncogene 1, non-receptor tyrosine kinase	441	Protein kinase.				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	CCCCTTACCCGGGAATTGACC	0.493000			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""								23	136					0	0	1	0	0
OSBP	5007	broad.mit.edu	37	11	59347647	59347647	+	Splice_Site	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:59347647C>A	ENST00000263847.1	-	11	2357	c.1878_splice	c.e11+1	p.K626_splice		NM_002556.2	NP_002547.1	P22059	OSBP1_HUMAN	oxysterol binding protein	626					lipid transport	Golgi membrane	oxysterol binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		CTTCCCTTACCTTTCTTGCTA	0.378000													15	42					8.60227e-14	1.16094e-13	1	1	0
KIRREL	55243	broad.mit.edu	37	1	158059420	158059420	+	Splice_Site	SNP	T	T	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:158059420T>C	ENST00000368172.1	+	5	625		c.e5+2		KIRREL_ENST00000360089.4_Splice_Site|KIRREL_ENST00000368173.3_Splice_Site|KIRREL_ENST00000359209.6_Splice_Site|KIRREL_ENST00000416935.2_Splice_Site|KIRREL_ENST00000392272.2_Splice_Site			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)							integral to membrane		p.?(3)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					ATGTGAACGGTGAGTGAGTGG	0.612000													7	138					0	0	1	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558148	140558148	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr5:140558148A>G	ENST00000239444.2	+	1	778	c.533A>G	c.(532-534)tAt>tGt	p.Y178C		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		178	Cadherin 2.				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)			CCCAACTCCTATTTTCGGGTC	0.498000													22	91					0	0	1	0	0
METTL13	51603	broad.mit.edu	37	1	171753568	171753568	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:171753568G>T	ENST00000361735.3	+	2	1108	c.842G>T	c.(841-843)cGc>cTc	p.R281L	METTL13_ENST00000367737.5_Intron|METTL13_ENST00000458517.1_Missense_Mutation_p.R280L|METTL13_ENST00000362019.3_Missense_Mutation_p.R195L	NM_015935.4	NP_057019.3	Q8N6R0	MTL13_HUMAN	methyltransferase like 13	281							methyltransferase activity|protein binding			breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						GGGGAGCCACGCTACACCCTC	0.602000													23	17					1.64293e-13	2.20269e-13	1	1	0
DUS1L	64118	broad.mit.edu	37	17	80019841	80019841	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr17:80019841G>A	ENST00000354321.7	-	5	1014	c.529C>T	c.(529-531)Cgc>Tgc	p.R177C	DUS1L_ENST00000306796.5_Missense_Mutation_p.R177C			Q6P1R4	DUS1L_HUMAN	dihydrouridine synthase 1-like (S. cerevisiae)	177					tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity			breast(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	6	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			TCCTTGGTGCGTCCGTGCACC	0.667000													5	148					0	0	1	0	0
MEGF10	84466	broad.mit.edu	37	5	126738285	126738285	+	Silent	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr5:126738285C>T	ENST00000274473.6	+	9	1095	c.828C>T	c.(826-828)aaC>aaT	p.N276N	MEGF10_ENST00000508365.1_Silent_p.N276N|MEGF10_ENST00000503335.2_Silent_p.N276N|MEGF10_ENST00000418761.2_Silent_p.N276N	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	276	Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		TTGGAAAGAACTGTTCCCAAG	0.537000													9	32					0	0	1	0	0
CGN	57530	broad.mit.edu	37	1	151504914	151504914	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:151504914C>T	ENST00000271636.7	+	14	2741	c.2608C>T	c.(2608-2610)Cag>Tag	p.Q870*		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	864						myosin complex|tight junction	actin binding|motor activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			GCAAGCCCTGCAGCAGCTCCA	0.577000													24	87					0	0	1	0	0
TMEM130	222865	broad.mit.edu	37	7	98449125	98449125	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr7:98449125C>A	ENST00000450876.1	-	6	1988	c.673G>T	c.(673-675)Ggg>Tgg	p.G225W	TMEM130_ENST00000345589.4_Missense_Mutation_p.G207W|TMEM130_ENST00000546258.1_Missense_Mutation_p.G290W|TMEM130_ENST00000339375.4_Missense_Mutation_p.G309W|TMEM130_ENST00000416379.2_Missense_Mutation_p.G309W			Q8N3G9	TM130_HUMAN	transmembrane protein 130	309	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)			CAGTAGTCCCCAGGGTCCCTG	0.597000													30	30					1.08312e-15	1.51178e-15	1	1	0
FAM71F2	346653	broad.mit.edu	37	7	128312492	128312492	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr7:128312492C>T	ENST00000480462.1	+	1	147	c.41C>T	c.(40-42)cCa>cTa	p.P14L	FAM71F2_ENST00000378704.3_Missense_Mutation_p.P14L|FAM71F2_ENST00000460349.1_3'UTR|FAM71F2_ENST00000477515.1_Missense_Mutation_p.P14L			Q6NXP2	F71F2_HUMAN	family with sequence similarity 71, member F2	14										NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(2)	7						GTCAGGGAACCAGGCCCTGGA	0.512000													8	8					0	0	1	0	0
CDK9	1025	broad.mit.edu	37	9	130550660	130550660	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr9:130550660G>T	ENST00000373265.2	+	5	951	c.951G>T	c.(949-951)ttG>ttT	p.L317F	CDK9_ENST00000373264.4_Missense_Mutation_p.L200F|CDK9_ENST00000480353.1_3'UTR			P50750	CDK9_HUMAN	cyclin-dependent kinase 9	200					cell proliferation|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	transcription elongation factor complex	ATP binding|cyclin-dependent protein kinase activity|DNA binding|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			lung(1)	1						CGGAGCTGTTGCTCGGTGAGG	0.682000													9	17					0.0581538	0.0590221	1	1	0
TICRR	90381	broad.mit.edu	37	15	90162953	90162953	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr15:90162953C>T	ENST00000268138.7	+	18	3139	c.3034C>T	c.(3034-3036)Cga>Tga	p.R1012*	TICRR_ENST00000560985.1_Nonsense_Mutation_p.R1011*|KIF7_ENST00000558928.1_Intron					TOPBP1-interacting checkpoint and replication regulator									p.R1012*(1)									AAGTCTGAGACGAAGTCCTCG	0.423000													19	67					0	0	1	0	0
LOC653786	653786	broad.mit.edu	37	16	22587948	22587948	+	RNA	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr16:22587948G>T	ENST00000550753.1	+	0	2423					NR_003676.2																						CTCCAGTCGTGGGGTCTTTGG	0.522000													27	85					8.16721e-17	1.16311e-16	1	1	0
ITGBL1	9358	broad.mit.edu	37	13	102367914	102367914	+	Splice_Site	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr13:102367914G>T	ENST00000376180.3	+	11	1614	c.1393_splice	c.e11-1	p.G465_splice	ITGBL1_ENST00000376162.3_Splice_Site_p.G372_splice|ITGBL1_ENST00000545560.2_Splice_Site_p.G324_splice	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat domains)	465	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity			breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TTATTGCAGGGAATGGAATAT	0.343000													61	100					2.3441e-25	3.5865e-25	1	1	0
CARD9	64170	broad.mit.edu	37	9	139262253	139262253	+	Missense_Mutation	SNP	C	C	T	rs141270365	byFrequency	TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr9:139262253C>T	ENST00000371732.5	-	8	1270	c.1105G>A	c.(1105-1107)Gca>Aca	p.A369T	CARD9_ENST00000371734.3_Missense_Mutation_p.A369T	NM_052813.4	NP_434700.2	Q9H257	CARD9_HUMAN	caspase recruitment domain family, member 9	369					positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of stress-activated MAPK cascade|regulation of apoptosis	cytoplasm	CARD domain binding|protein homodimerization activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)		GCGTGCTGTGCGTGCAGCTCC	0.711000													3	35					0	0	1	0	0
MOGAT1	116255	broad.mit.edu	37	2	223553080	223553080	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr2:223553080A>T	ENST00000446656.3	+	2	112	c.112A>T	c.(112-114)Atc>Ttc	p.I38F		NM_058165.2	NP_477513.2	Q96PD6	MOGT1_HUMAN	monoacylglycerol O-acyltransferase 1	38					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity			breast(1)|cervix(1)|endometrium(1)|lung(5)|urinary_tract(1)	9		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;2.06e-07)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0105)		GTCCATTGGAATCACTGTGAT	0.453000													3	12					0	0	1	0	0
NEUROD1	4760	broad.mit.edu	37	2	182543084	182543084	+	Silent	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr2:182543084G>A	ENST00000295108.3	-	2	961	c.504C>T	c.(502-504)ttC>ttT	p.F168F	NEUROD1_ENST00000496876.1_Intron|CERKL_ENST00000479558.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	168					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	chromatin binding|E-box 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)			GCGTCTGAACGAAGGAGACCA	0.562000													15	90					0	0	1	0	0
MBTD1	54799	broad.mit.edu	37	17	49270275	49270275	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr17:49270275G>A	ENST00000586178.1	-	15	1901	c.1558C>T	c.(1558-1560)Cgt>Tgt	p.R520C	MBTD1_ENST00000376381.2_3'UTR|MBTD1_ENST00000415868.1_Missense_Mutation_p.R520C	NM_017643.2	NP_060113.2	Q05BQ5	MBTD1_HUMAN	mbt domain containing 1	520					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)			CTCAAGAGACGATGAATAATT	0.423000													15	151					0	0	1	0	0
TREML2	79865	broad.mit.edu	37	6	41165959	41165959	+	Silent	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr6:41165959G>T	ENST00000483722.1	-	2	449	c.264C>A	c.(262-264)gtC>gtA	p.V88V		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	88	Ig-like V-type.				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)					TGGTGATGTTGACCACCTTGG	0.592000													4	76					0.184627	0.185704	1	1	0
ZNF653	115950	broad.mit.edu	37	19	11598615	11598615	+	Silent	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:11598615C>T	ENST00000293771.5	-	4	799	c.663G>A	c.(661-663)gcG>gcA	p.A221A	CTC-398G3.6_ENST00000585656.1_Intron	NM_138783.3	NP_620138.2	Q96CK0	ZN653_HUMAN	zinc finger protein 653	221	Poly-Ala.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	17						CTGCCGCTGCCGCTGCCGCAG	0.667000													14	52					0	0	1	0	0
MARCH6	10299	broad.mit.edu	37	5	10426634	10426634	+	Splice_Site	SNP	G	G	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr5:10426634G>C	ENST00000274140.5	+	24	2638	c.2506_splice	c.e24+1	p.G836_splice	MARCH6_ENST00000503788.1_Splice_Site_p.G731_splice|MARCH6_ENST00000449913.2_Splice_Site_p.G788_splice|MARCH6_ENST00000510792.1_Splice_Site_p.G534_splice	NM_005885.2	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	836					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						TCCTTTACTAGGTACGTAATG	0.423000													56	245					0	0	1	0	0
TRPV6	55503	broad.mit.edu	37	7	142573633	142573633	+	Missense_Mutation	SNP	G	G	A	rs146718533		TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr7:142573633G>A	ENST00000359396.3	-	7	1032	c.787C>T	c.(787-789)Cgg>Tgg	p.R263W	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	263					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)					GTGTGCTTCCGCTTCTGCATC	0.522000													68	71					0	0	1	0	0
QRICH2	84074	broad.mit.edu	37	17	74274102	74274102	+	Silent	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr17:74274102G>A	ENST00000262765.5	-	15	4766	c.4587C>T	c.(4585-4587)caC>caT	p.H1529H		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	1529							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						GGCACTGGGCGTGCAGCAGCT	0.622000													23	74					0	0	1	0	0
MYO1H	283446	broad.mit.edu	37	12	109877484	109877484	+	Silent	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr12:109877484C>T	ENST00000310903.5	+	24	2401	c.2295C>T	c.(2293-2295)aaC>aaT	p.N765N	MYO1H_ENST00000431443.2_Silent_p.N775N			B4DNW6	B4DNW6_HUMAN	myosin IH	0						myosin complex	motor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						GTCCTGACAACGAGGAATTTA	0.438000													12	21					0	0	1	0	0
MYH3	4621	broad.mit.edu	37	17	10533167	10533167	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr17:10533167C>A	ENST00000583535.1	-	39	5737	c.5650G>T	c.(5650-5652)Gag>Tag	p.E1884*	MYH3_ENST00000226209.7_Nonsense_Mutation_p.E1884*	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1884					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP 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						ACAGCCTCCTCCGCCTGCCTC	0.522000													43	105					1.32136e-16	1.87939e-16	1	1	0
TRMT2B	79979	broad.mit.edu	37	X	100291975	100291975	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:100291975C>A	ENST00000338687.7	-	5	1196	c.391G>T	c.(391-393)Gga>Tga	p.G131*	TRMT2B_ENST00000545398.1_Nonsense_Mutation_p.G176*|TRMT2B_ENST00000372936.3_Nonsense_Mutation_p.G176*|TRMT2B_ENST00000372931.5_Nonsense_Mutation_p.G176*|TRMT2B_ENST00000478422.1_5'UTR|TRMT2B_ENST00000372939.1_Nonsense_Mutation_p.G131*|TRMT2B_ENST00000372935.1_Nonsense_Mutation_p.G176*			Q96GJ1	TRM2_HUMAN	tRNA methyltransferase 2 homolog B (S. cerevisiae)	176							tRNA (uracil-5-)-methyltransferase activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	24						CTCCAAGTTCCCAGGTAGAAC	0.483000													17	58					5.03518e-11	6.46105e-11	1	1	0
MCM3	4172	broad.mit.edu	37	6	52147593	52147593	+	Silent	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr6:52147593G>T	ENST00000596288.1	-	3	420	c.393C>A	c.(391-393)tcC>tcA	p.S131S	MCM3_ENST00000229854.7_Silent_p.S86S|MCM3_ENST00000419835.2_Silent_p.S40S	NM_002388.4	NP_002379.3	P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	86					cell cycle checkpoint|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	alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					TAGCATCAATGGAGGCCACAA	0.502000													7	35					0.0293803	0.0299002	1	1	0
KLHL22	84861	broad.mit.edu	37	22	20796599	20796599	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr22:20796599G>A	ENST00000328879.4	-	7	1822	c.1666C>T	c.(1666-1668)Cgc>Tgc	p.R556C	KLHL22_ENST00000440659.2_Missense_Mutation_p.R413C	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	kelch-like family member 22	556					cell division	Cul3-RING ubiquitin ligase complex				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			CGGCTGCCGCGGTTGTGTGAG	0.612000													6	73					0	0	1	0	0
CPSF3L	54973	broad.mit.edu	37	1	1248219	1248219	+	Silent	SNP	A	A	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:1248219A>G	ENST00000540437.1	-	14	1715	c.1260T>C	c.(1258-1260)caT>caC	p.H420H	CPSF3L_ENST00000421495.2_Silent_p.H156H|CPSF3L_ENST00000435064.1_Silent_p.H414H|CPSF3L_ENST00000450926.2_Silent_p.H392H|CPSF3L_ENST00000462432.1_5'UTR|CPSF3L_ENST00000411962.1_Silent_p.H316H|CPSF3L_ENST00000419704.1_Silent_p.H313H|CPSF3L_ENST00000545578.1_Silent_p.H385H	NM_001256456.1	NP_001243385.1	Q5TA45	INT11_HUMAN	cleavage and polyadenylation specific factor 3-like	414						Golgi apparatus|nucleus	hydrolase activity			endometrium(4)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(3)	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;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)		TGGCCTCGCCATGCACCAGCA	0.657000													12	37					0	0	1	0	0
HSPA2	3306	broad.mit.edu	37	14	65009161	65009161	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr14:65009161G>T	ENST00000247207.6	+	1	1976	c.1594G>T	c.(1594-1596)Gat>Tat	p.D532Y	HSPA2_ENST00000394709.1_Missense_Mutation_p.D532Y	NM_021979.3	NP_068814.2	P54652	HSP72_HUMAN	heat shock 70kDa protein 2	532					response to unfolded protein|spermatid development	cell surface	ATP binding|unfolded protein binding			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		CAAATCGGAAGATGAGGCGAA	0.532000													32	116					7.72975e-29	1.20485e-28	1	1	0
DST	667	broad.mit.edu	37	6	56516011	56516011	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr6:56516011C>A	ENST00000370754.5	-	10	1146	c.1147G>T	c.(1147-1149)Gtt>Ttt	p.V383F	DST_ENST00000370769.4_Missense_Mutation_p.V205F|DST_ENST00000370788.2_Missense_Mutation_p.V205F|DST_ENST00000361203.3_Missense_Mutation_p.V205F|DST_ENST00000312431.6_Missense_Mutation_p.V205F|DST_ENST00000421834.2_Missense_Mutation_p.V205F			Q03001	DYST_HUMAN	dystonin	205					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	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|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus 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)			TTGCTTTGAACAGCAACAGTA	0.343000													4	20					0.150653	0.15194	1	1	0
SOX6	55553	broad.mit.edu	37	11	16424226	16424226	+	Translation_Start_Site	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:16424226C>A	ENST00000527619.1	-	0	166				SOX6_ENST00000396356.3_Intron|SOX6_ENST00000528252.1_Intron|SOX6_ENST00000528429.1_Intron|SOX6_ENST00000352083.6_Intron|SOX6_ENST00000533658.1_Intron	NM_017508.2	NP_059978.1	P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6						muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						TCTTTCCTTCCTCCACCCACT	0.353000													9	45					0.010729	0.0110442	1	1	0
TNN	63923	broad.mit.edu	37	1	175067502	175067502	+	Silent	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:175067502G>A	ENST00000239462.4	+	9	2003	c.1890G>A	c.(1888-1890)cgG>cgA	p.R630R		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	630	Fibronectin type-III 5.				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)		TGACTGACCGGGTGACAGAGA	0.542000													12	255					0	0	1	0	0
PCDH8	5100	broad.mit.edu	37	13	53420691	53420691	+	Silent	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr13:53420691G>T	ENST00000377942.3	-	1	2084	c.1881C>A	c.(1879-1881)acC>acA	p.T627T	PCDH8_ENST00000338862.4_Silent_p.T627T	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	627	Cadherin 6.				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)		TGTCCTTTGCGGTGCGCCCAG	0.682000													3	11					2.56e-06	2.90591e-06	1	1	0
TP53	7157	broad.mit.edu	37	17	7578469	7578469	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr17:7578469C>A	ENST00000420246.2	-	5	593	c.461G>T	c.(460-462)gGc>gTc	p.G154V	TP53_ENST00000359597.4_Missense_Mutation_p.G154V|TP53_ENST00000455263.2_Missense_Mutation_p.G154V|TP53_ENST00000413465.2_Missense_Mutation_p.G154V|TP53_ENST00000269305.4_Missense_Mutation_p.G154V|TP53_ENST00000445888.2_Missense_Mutation_p.G154V	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	154	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in a sporadic cancer; somatic mutation).|G -> D (in sporadic cancers; somatic mutation).|G -> I (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> S (in sporadic cancers; somatic mutation).|G -> V (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G154V(46)|p.0?(8)|p.G154D(6)|p.?(5)|p.P152fs*14(5)|p.G61V(3)|p.G22V(3)|p.G154I(3)|p.T155_R156insDSTPPPGT(3)|p.G154fs*14(2)|p.P153fs*26(2)|p.P153fs*22(2)|p.T23_R24insDSTPPPGT(1)|p.P151_V173del23(1)|p.D148_T155delDSTPPPGT(1)|p.G154A(1)|p.D148fs*23(1)|p.T62_R63insDSTPPPGT(1)|p.Q144_G154del11(1)|p.S149fs*72(1)|p.G154fs*22(1)|p.G154_R156delGTR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GACGCGGGTGCCGGGCGGGGG	0.607000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			21	27					8.04996e-18	1.15818e-17	1	1	0
TIMM21	29090	broad.mit.edu	37	18	71822592	71822592	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr18:71822592G>T	ENST00000580087.1	+	3	702	c.416G>T	c.(415-417)aGc>aTc	p.S139I	TIMM21_ENST00000169551.6_Missense_Mutation_p.S139I			Q9BVV7	TI21L_HUMAN	translocase of inner mitochondrial membrane 21 homolog (yeast)	139					protein transport|transmembrane transport	integral to membrane|mitochondrial membrane											TCCAGTCCTAGCAAGATATAT	0.388000													8	55					0.000274275	0.000293932	1	1	0
TMEM52B	120939	broad.mit.edu	37	12	10339077	10339077	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr12:10339077C>T	ENST00000298530.3	+	3	714	c.136C>T	c.(136-138)Cgc>Tgc	p.R46C	TMEM52B_ENST00000381923.2_Missense_Mutation_p.R66C|TMEM52B_ENST00000536952.1_Missense_Mutation_p.R66C	NM_153022.2	NP_694567.1			transmembrane protein 52B																		CCTGTGCTTCCGCTGCTGCTG	0.607000													29	53					0	0	1	0	0
GOLGB1	2804	broad.mit.edu	37	3	121448804	121448804	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr3:121448804G>A	ENST00000393667.3	-	3	267	c.157C>T	c.(157-159)Cgc>Tgc	p.R53C	GOLGB1_ENST00000472829.1_5'UTR|GOLGB1_ENST00000340645.5_Missense_Mutation_p.R53C	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	53					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TAAGCCAGGCGCTCCTGAACA	0.388000													20	37					0	0	1	0	0
HK2	3099	broad.mit.edu	37	2	75113790	75113790	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr2:75113790G>A	ENST00000290573.2	+	15	2809	c.2209G>A	c.(2209-2211)Ggc>Agc	p.G737S	HK2_ENST00000409174.1_Missense_Mutation_p.G709S	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	737	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						ACTCAACCCCGGCAAGCAGAG	0.547000													6	73					0	0	1	0	0
HMGCS2	3158	broad.mit.edu	37	1	120307036	120307036	+	Silent	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:120307036G>A	ENST00000369406.3	-	2	367	c.318C>T	c.(316-318)tgC>tgT	p.C106C	HMGCS2_ENST00000476640.1_5'UTR|HMGCS2_ENST00000544913.2_Silent_p.C106C	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)	106					acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		CCACCGTCAGGCACAGGGAGT	0.542000													44	81					0	0	1	0	0
ANKRD6	22881	broad.mit.edu	37	6	90340611	90340611	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr6:90340611G>A	ENST00000369408.5	+	15	2316	c.1967G>A	c.(1966-1968)cGa>cAa	p.R656Q	ANKRD6_ENST00000522441.1_Missense_Mutation_p.R691Q|ANKRD6_ENST00000339746.4_Missense_Mutation_p.R691Q|ANKRD6_ENST00000447838.2_Missense_Mutation_p.R686Q|LYRM2_ENST00000520441.1_Intron|ANKRD6_ENST00000520793.1_Missense_Mutation_p.R627Q	NM_001242813.1	NP_001229742.1	Q9Y2G4	ANKR6_HUMAN	ankyrin repeat domain 6	691							protein binding			NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2)	21		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)		BRCA - Breast invasive adenocarcinoma(108;0.0209)		GAAGAAGCACGAAGCCAAGCC	0.443000													3	15					0	0	1	0	0
NLRP11	204801	broad.mit.edu	37	19	56312964	56312964	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:56312964C>A	ENST00000443188.1	-	7	2855	c.2145G>T	c.(2143-2145)gaG>gaT	p.E715D	NLRP11_ENST00000592953.1_Missense_Mutation_p.E616D|NLRP11_ENST00000589824.2_Missense_Mutation_p.E661D|NLRP11_ENST00000589093.1_Missense_Mutation_p.E715D|NLRP11_ENST00000360133.3_Missense_Mutation_p.E661D	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	715							ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		GGCATGTGGGCTCGTGCAGGA	0.498000													31	83					1.21669e-08	1.46486e-08	1	1	0
COL22A1	169044	broad.mit.edu	37	8	139833460	139833460	+	Silent	SNP	T	T	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr8:139833460T>A	ENST00000303045.6	-	7	1610	c.1164A>T	c.(1162-1164)ctA>ctT	p.L388L	COL22A1_ENST00000435777.1_Silent_p.L388L	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	388	TSP N-terminal.				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)			CCTCGATGGGTAGTGTCTGCA	0.577000										HNSCC(7;0.00092)			12	45					0	0	1	0	0
TRIM62	55223	broad.mit.edu	37	1	33646644	33646644	+	Silent	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:33646644G>A	ENST00000291416.5	-	1	623	c.390C>T	c.(388-390)gaC>gaT	p.D130D	TRIM62_ENST00000485148.1_5'UTR	NM_018207.2	NP_060677.2	Q9BVG3	TRI62_HUMAN	tripartite motif containing 62	130						intracellular	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)				CGTCGAAGGCGTCGTCGATGC	0.701000													10	11					0	0	1	0	0
UQCRB	7381	broad.mit.edu	37	8	97245423	97245423	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr8:97245423G>A	ENST00000287022.5	-	2	155	c.52C>T	c.(52-54)Cga>Tga	p.R18*	UQCRB_ENST00000517523.1_5'UTR|UQCRB_ENST00000518406.1_Nonsense_Mutation_p.R18*|UQCRB_ENST00000523920.1_Nonsense_Mutation_p.R18*	NM_001199975.2|NM_006294.4	NP_001186904.1|NP_006285.1	P14927	QCR7_HUMAN	ubiquinol-cytochrome c reductase binding protein	18					aerobic respiration|mitochondrial electron transport, ubiquinol to cytochrome c	mitochondrial respiratory chain	ubiquinol-cytochrome-c reductase activity			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10	Breast(36;5.16e-05)					TACCATTTTCGAATACCATCC	0.333000													9	70					0	0	1	0	0
NFASC	23114	broad.mit.edu	37	1	204939850	204939850	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:204939850G>C	ENST00000367172.4	+	11	1438	c.1110G>C	c.(1108-1110)tgG>tgC	p.W370C	NFASC_ENST00000403080.1_Missense_Mutation_p.W370C|NFASC_ENST00000401399.1_Missense_Mutation_p.W370C|NFASC_ENST00000539706.1_Missense_Mutation_p.W381C|NFASC_ENST00000339876.6_Missense_Mutation_p.W370C|NFASC_ENST00000360049.4_Missense_Mutation_p.W381C|NFASC_ENST00000338515.6_Missense_Mutation_p.W370C|NFASC_ENST00000367170.4_Missense_Mutation_p.W370C|NFASC_ENST00000367171.4_Missense_Mutation_p.W370C|NFASC_ENST00000513543.1_Missense_Mutation_p.W381C|NFASC_ENST00000367169.4_Missense_Mutation_p.W370C|NFASC_ENST00000404907.1_Missense_Mutation_p.W381C|NFASC_ENST00000338586.6_Missense_Mutation_p.W370C|NFASC_ENST00000404076.1_Missense_Mutation_p.W364C			O94856	NFASC_HUMAN	neurofascin	370	Ig-like C2-type 4.				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)			CTGTCCAGTGGATGGTGAATG	0.532000													34	76					0	0	1	0	0
CANX	821	broad.mit.edu	37	5	179150667	179150667	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr5:179150667G>A	ENST00000247461.4	+	12	1605	c.1405G>A	c.(1405-1407)Gtt>Att	p.V469I	CANX_ENST00000512607.2_Missense_Mutation_p.V361I|CANX_ENST00000415618.2_Missense_Mutation_p.V504I|CANX_ENST00000452673.2_Missense_Mutation_p.V469I|CANX_ENST00000504734.1_Missense_Mutation_p.V469I	NM_001746.3	NP_001737.1	P27824	CALX_HUMAN	calnexin	469					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein secretion	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane|melanosome	calcium ion binding|sugar binding|unfolded protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3)	22	all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCAGCCAGGCGTTGTGGGGCA	0.502000													17	69					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186135399	186135399	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:186135399G>A	ENST00000271588.4	+	99	15632	c.15403G>A	c.(15403-15405)Ggc>Agc	p.G5135S	HMCN1_ENST00000367492.2_Missense_Mutation_p.G5135S	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	5135	EGF-like 1; calcium-binding (Potential).				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						CTGCCCTAAAGGCCTCACCAT	0.438000													16	41					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9017386	9017386	+	Silent	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:9017386C>A	ENST00000397910.4	-	26	38141	c.37938G>T	c.(37936-37938)ctG>ctT	p.L12646L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12648	SEA 4.				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						TGTAGGGGCCCAGCTCTTTGA	0.557000													28	301					1.13719e-10	1.44271e-10	1	1	0
DENND1C	79958	broad.mit.edu	37	19	6478987	6478987	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:6478987C>T	ENST00000381480.2	-	5	369	c.257G>A	c.(256-258)cGc>cAc	p.R86H	DENND1C_ENST00000591030.1_5'UTR|DENND1C_ENST00000543576.1_Missense_Mutation_p.R42H	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	86	UDENN.					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						CGCCCGCAGGCGGCAGAAACC	0.652000													22	102					0	0	1	0	0
TIMP2	7077	broad.mit.edu	37	17	76851807	76851807	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr17:76851807G>A	ENST00000262768.7	-	5	903	c.605C>T	c.(604-606)gCg>gTg	p.A202V	TIMP2_ENST00000536189.2_Missense_Mutation_p.A125V|RP11-323N12.5_ENST00000587434.1_RNA|TIMP2_ENST00000585421.1_Missense_Mutation_p.A125V|TIMP2_ENST00000586057.1_Missense_Mutation_p.A125V	NM_003255.4	NP_003246.1	P16035	TIMP2_HUMAN	TIMP metallopeptidase inhibitor 2	202							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)			GCGGTACCACGCACAGGAGCC	0.607000													13	74					0	0	1	0	0
IGKV2D-29	28882	broad.mit.edu	37	2	89986982	89986982	+	RNA	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr2:89986982G>T	ENST00000491977.1	+	0	293																											GATAGGTTCAGTGGCAGCGGG	0.512000													27	51					1.08312e-15	1.51178e-15	1	1	0
ADCY10	55811	broad.mit.edu	37	1	167863109	167863109	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:167863109C>A	ENST00000367848.1	-	8	1031	c.534G>T	c.(532-534)atG>atT	p.M178I	ADCY10_ENST00000367851.4_Missense_Mutation_p.M270I|ADCY10_ENST00000545172.1_Missense_Mutation_p.M117I			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	270	Guanylate cyclase 1.				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|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						AAATGCTTTCCATCACATACT	0.428000													17	40					5.35267e-07	6.22074e-07	1	1	0
OVCH1	341350	broad.mit.edu	37	12	29650606	29650606	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr12:29650606G>A	ENST00000318184.5	-	1	13	c.14C>T	c.(13-15)gCc>gTc	p.A5V		NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	5					proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			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)					ACCAGCACTGGCCAGCAGGCC	0.647000													16	40					0	0	1	0	0
WDR96	80217	broad.mit.edu	37	10	105971912	105971912	+	Silent	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr10:105971912C>A	ENST00000357060.3	-	5	703	c.588G>T	c.(586-588)tcG>tcT	p.S196S	WDR96_ENST00000369719.1_Silent_p.S126S|WDR96_ENST00000278064.2_Silent_p.S126S|WDR96_ENST00000428666.1_Silent_p.S196S|WDR96_ENST00000369720.1_Silent_p.S126S	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN	WD repeat domain 96	196										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						GTAATTTCACCGACCTGTAGA	0.433000													14	46					1.52009e-12	2.00209e-12	1	1	0
PRKRIP1	79706	broad.mit.edu	37	7	102040058	102040058	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr7:102040058A>T	ENST00000496391.1	+	7	1579	c.269A>T	c.(268-270)tAt>tTt	p.Y90F	PRKRIP1_ENST00000397912.3_Missense_Mutation_p.Y90F|PRKRIP1_ENST00000462601.1_Missense_Mutation_p.Y33F|PRKRIP1_ENST00000354783.4_Missense_Mutation_p.Y52F|PRKRIP1_ENST00000482465.1_3'UTR			Q9H875	PKRI1_HUMAN	PRKR interacting protein 1 (IL11 inducible)	90	Required for RNA-binding (By similarity).					nucleolus				endometrium(1)|lung(4)|ovary(1)	6						CGGAGAGAATATCAGCGACAG	0.537000													10	100					0	0	1	0	0
KANK4	163782	broad.mit.edu	37	1	62734032	62734032	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:62734032T>C	ENST00000371153.4	-	5	2536	c.2158A>G	c.(2158-2160)Atc>Gtc	p.I720V	KANK4_ENST00000371150.1_Missense_Mutation_p.I76V|KANK4_ENST00000354381.3_Missense_Mutation_p.I92V	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	720										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						CCCTCAGGGATGCCCTGCCCA	0.607000													8	44					0	0	1	0	0
TMEM74	157753	broad.mit.edu	37	8	109796744	109796744	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr8:109796744G>T	ENST00000297459.3	-	2	762	c.584C>A	c.(583-585)tCt>tAt	p.S195Y	TMEM74_ENST00000518838.1_Intron	NM_153015.1	NP_694560.1	Q96NL1	TMM74_HUMAN	transmembrane protein 74	195					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)			GACGATGTAAGAGATGATCAC	0.557000													19	34					4.63292e-17	6.61888e-17	1	1	0
SEL1L	6400	broad.mit.edu	37	14	81970636	81970636	+	Missense_Mutation	SNP	C	C	A	rs139757904		TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr14:81970636C>A	ENST00000336735.4	-	5	639	c.523G>T	c.(523-525)Gct>Tct	p.A175S	SEL1L_ENST00000555824.1_Missense_Mutation_p.A175S	NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like (C. elegans)	175	Interaction with ERLEC1, OS9 and SYVN1.				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28				BRCA - Breast invasive adenocarcinoma(234;0.0299)		CGTCTCTTAGCAGCCTCTTCT	0.353000													23	67					5.26018e-13	6.96081e-13	1	1	0
MORN1	79906	broad.mit.edu	37	1	2303979	2303979	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:2303979T>C	ENST00000378531.3	-	8	859	c.686A>G	c.(685-687)cAa>cGa	p.Q229R	MORN1_ENST00000606372.1_5'UTR|MORN1_ENST00000378529.3_Missense_Mutation_p.Q229R	NM_024848.1	NP_079124.1	Q5T089	MORN1_HUMAN	MORN repeat containing 1	229										breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(1)|ovary(2)	9	all_cancers(77;0.000194)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.3e-15)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-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;2.21e-37)|OV - Ovarian serous cystadenocarcinoma(86;5.01e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00137)|BRCA - Breast invasive adenocarcinoma(365;0.00488)|STAD - Stomach adenocarcinoma(132;0.00665)|KIRC - Kidney renal clear cell carcinoma(229;0.0203)|Lung(427;0.212)		GGGAGACCCTTGGGCCACTTC	0.562000													5	51					0	0	1	0	0
SORT1	6272	broad.mit.edu	37	1	109869660	109869660	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:109869660T>C	ENST00000256637.6	-	13	1655	c.1597A>G	c.(1597-1599)Atc>Gtc	p.I533V	SORT1_ENST00000538502.1_Missense_Mutation_p.I396V	NM_002959.5	NP_002950.3	Q99523	SORT_HUMAN	sortilin 1	533					endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization	cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane	enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		GCCACAATGATGCCTCCAGAA	0.488000													38	86					0	0	1	0	0
RPTN	126638	broad.mit.edu	37	1	152129369	152129369	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:152129369A>T	ENST00000316073.3	-	3	270	c.206T>A	c.(205-207)aTt>aAt	p.I69N		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	69	EF-hand 2.|S-100-like (By similarity).					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						ATGAAAATCAATATGTCCATC	0.428000													54	90					0	0	1	0	0
MMAA	166785	broad.mit.edu	37	4	146576486	146576486	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr4:146576486G>A	ENST00000281317.5	+	7	2367	c.1157G>A	c.(1156-1158)cGg>cAg	p.R386Q	MMAA_ENST00000541599.1_Missense_Mutation_p.R105Q	NM_172250.2	NP_758454.1	Q8IVH4	MMAA_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblA type	386						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)	CCCACAGTCCGGGAACAGATT	0.483000													17	87					0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	124989824	124989824	+	Silent	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr8:124989824C>T	ENST00000522917.1	+	10	1244	c.1038C>T	c.(1036-1038)atC>atT	p.I346I	FER1L6_ENST00000399018.1_Silent_p.I346I	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	346						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)			TGAAGAAAATCTCCAACGAAC	0.468000													17	26					0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18061065	18061065	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr17:18061065G>T	ENST00000205890.5	+	51	9156	c.8818G>T	c.(8818-8820)Gtg>Ttg	p.V2940L	MYO15A_ENST00000418233.3_Missense_Mutation_p.V204L	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2940	SH3.|Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP 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)					CCACGGGCGCGTGGGCCGCTT	0.677000													20	47					2.21704e-12	2.90638e-12	1	1	0
B3GNT7	93010	broad.mit.edu	37	2	232263016	232263016	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr2:232263016G>A	ENST00000287590.5	+	2	847	c.586G>A	c.(586-588)Gaa>Aaa	p.E196K		NM_145236.2	NP_660279.1	Q8NFL0	B3GN7_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7	196					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)	17		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)		GCTGGCCTACGAAGACCGCCT	0.642000													17	65					0	0	1	0	0
KIAA0556	23247	broad.mit.edu	37	16	27689186	27689186	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr16:27689186C>T	ENST00000261588.4	+	7	696	c.677C>T	c.(676-678)cCc>cTc	p.P226L	KIAA0556_ENST00000567894.1_3'UTR	NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	226										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						GTGGGCCATCCCAGACATGAC	0.552000													7	75					0	0	1	0	0
TEKT4	150483	broad.mit.edu	37	2	95540641	95540641	+	Silent	SNP	C	C	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr2:95540641C>G	ENST00000295201.4	+	4	971	c.834C>G	c.(832-834)tcC>tcG	p.S278S	AC097374.2_ENST00000568768.1_RNA	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	278					cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						GCGACACCTCCGAGGACCTGC	0.682000													7	21					0	0	1	0	0
CSHL1	1444	broad.mit.edu	37	17	61987605	61987605	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr17:61987605T>A	ENST00000450719.3	-	3	343	c.106A>T	c.(106-108)Aac>Tac	p.N36Y	CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000346606.6_Missense_Mutation_p.N36Y|CSHL1_ENST00000259003.10_Missense_Mutation_p.N68Y|CSHL1_ENST00000438387.2_Missense_Mutation_p.N47Y|CSHL1_ENST00000309894.5_Missense_Mutation_p.N130Y|CSHL1_ENST00000392824.4_3'UTR|CSHL1_ENST00000561003.1_Missense_Mutation_p.N47Y			Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1	130						extracellular region	hormone activity|metal ion binding			endometrium(3)|lung(6)	9						ACCAGGTTGTTGGTGAAGGTA	0.587000													11	84					0	0	1	0	0
SOX6	55553	broad.mit.edu	37	11	16208413	16208413	+	Silent	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:16208413C>T	ENST00000352083.6	-	5	701	c.624G>A	c.(622-624)gcG>gcA	p.A208A	SOX6_ENST00000396356.3_Silent_p.A208A|SOX6_ENST00000527619.1_Silent_p.A211A|SOX6_ENST00000528252.1_Silent_p.A208A|SOX6_ENST00000316399.6_Silent_p.A208A|SOX6_ENST00000528429.1_Silent_p.A208A			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	208					muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						GTTCATCATGCGCTGCCAGTA	0.502000													66	179					0	0	1	0	0
CRNKL1	51340	broad.mit.edu	37	20	20030018	20030018	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr20:20030018C>G	ENST00000377340.2	-	4	776	c.745G>C	c.(745-747)Gca>Cca	p.A249P	CRNKL1_ENST00000536226.1_Missense_Mutation_p.A88P|CRNKL1_ENST00000377327.4_Missense_Mutation_p.A237P	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	249					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						TCCCATTGTGCGTATTTTATC	0.313000													8	8					0	0	1	0	0
KRTAP10-12	386685	broad.mit.edu	37	21	46117531	46117531	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr21:46117531C>A	ENST00000400365.3	+	1	445	c.415C>A	c.(415-417)Cca>Aca	p.P139T	TSPEAR_ENST00000323084.4_Intron	NM_198699.1	NP_941972.1	P60413	KR10C_HUMAN	keratin associated protein 10-12	139	19 X 5 AA repeats of C-C-X(3).					keratin filament				large_intestine(1)|lung(8)	9						TAGCTGCCAGCCAGCTTGCTG	0.612000													67	212					3.09758e-43	4.99488e-43	1	1	0
TRPC4AP	26133	broad.mit.edu	37	20	33591358	33591358	+	Missense_Mutation	SNP	C	C	T	rs140361914		TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr20:33591358C>T	ENST00000252015.2	-	18	2200	c.2111G>A	c.(2110-2112)cGg>cAg	p.R704Q	TRPC4AP_ENST00000432634.2_Missense_Mutation_p.R665Q|TRPC4AP_ENST00000451813.1_Missense_Mutation_p.R696Q|TRPC4AP_ENST00000539834.1_Missense_Mutation_p.R306Q			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein	704					protein ubiquitination|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	protein binding			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			CAGGGGCAGCCGCTCTTTCCG	0.637000													8	53					0	0	1	0	0
CEBPB	1051	broad.mit.edu	37	20	48808467	48808467	+	Silent	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr20:48808467G>A	ENST00000303004.3	+	1	1092	c.897G>A	c.(895-897)acG>acA	p.T299T		NM_005194.3	NP_005185.2	P17676	CEBPB_HUMAN	CCAAT/enhancer binding protein (C/EBP), beta	299					acute-phase response|immune response		sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|lung(1)	2			BRCA - Breast invasive adenocarcinoma(9;5.72e-08)|STAD - Stomach adenocarcinoma(23;0.19)			ACCTGGAGACGCAGCACAAGG	0.632000													15	16					0	0	1	0	0
FAM47A	158724	broad.mit.edu	37	X	34150221	34150221	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:34150221G>A	ENST00000346193.3	-	1	226	c.175C>T	c.(175-177)Cgc>Tgc	p.R59C		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	59										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						CAGCCGTAGCGGAAGTCGTCC	0.557000													22	84					0	0	1	0	0
PTPRN2	5799	broad.mit.edu	37	7	157926752	157926752	+	Splice_Site	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr7:157926752C>A	ENST00000389413.3	-	9	1277		c.e9-1		PTPRN2_ENST00000409483.1_Splice_Site|PTPRN2_ENST00000389416.4_Splice_Site|PTPRN2_ENST00000404321.2_Splice_Site|PTPRN2_ENST00000389418.4_Splice_Site	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2							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)		GACGATGGACCTGACAGAGAG	0.597000													28	34					3.73148e-12	4.88029e-12	1	1	0
ALDH1L1	10840	broad.mit.edu	37	3	125828808	125828808	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr3:125828808C>A	ENST00000393434.2	-	20	2675	c.2326G>T	c.(2326-2328)Ggg>Tgg	p.G776W	ALDH1L1_ENST00000452905.2_Missense_Mutation_p.G675W|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.G776W|ALDH1L1_ENST00000393431.2_3'UTR|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.G786W	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	776	Aldehyde dehydrogenase.				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)	ACCTGATTCCCGCCGCAGACC	0.617000													4	38					0.00909568	0.00937143	1	1	0
AMER1	139285	broad.mit.edu	37	X	63410468	63410468	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:63410468T>A	ENST00000330258.3	-	2	2971	c.2699A>T	c.(2698-2700)gAg>gTg	p.E900V	AMER1_ENST00000403336.1_Intron|AMER1_ENST00000374869.3_Intron	NM_152424.3	NP_689637.3			APC membrane recruitment protein 1									p.0?(67)									CTCCAGGGTCTCTGCAGTGTC	0.597000													8	47					0	0	1	0	0
PRRC2B	84726	broad.mit.edu	37	9	134360138	134360138	+	Silent	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr9:134360138C>T	ENST00000357304.4	+	23	5581	c.5526C>T	c.(5524-5526)ctC>ctT	p.L1842L	PRRC2B_ENST00000405995.1_Silent_p.L1148L|PRRC2B_ENST00000458550.1_Silent_p.L1148L|PRRC2B_ENST00000372249.1_5'UTR	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	1842							protein binding			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						CCATCGGTCTCTCCCCAATGT	0.567000													44	71					0	0	1	0	0
PPP1R36	145376	broad.mit.edu	37	14	65019538	65019538	+	Silent	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr14:65019538C>T	ENST00000298705.1	+	3	237	c.141C>T	c.(139-141)gcC>gcT	p.A47A	RP11-973N13.3_ENST00000556634.1_RNA|RP11-973N13.3_ENST00000554454.1_RNA	NM_172365.1	NP_758953.1	Q96LQ0	CN050_HUMAN	protein phosphatase 1, regulatory subunit 36	47																	TCAGGTTTGCCGCAGAAGATT	0.383000													12	47					0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152082760	152082760	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:152082760G>C	ENST00000368804.1	-	2	2932	c.2933C>G	c.(2932-2934)cCg>cGg	p.P978R		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	978	10 X 30 AA tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			tctcttctccggttcctctcc	0.557000													61	233					0	0	1	0	0
VPS41	27072	broad.mit.edu	37	7	38908748	38908748	+	Missense_Mutation	SNP	T	T	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr7:38908748T>G	ENST00000310301.4	-	3	220	c.166A>C	c.(166-168)Aag>Cag	p.K56Q	VPS41_ENST00000395969.2_Missense_Mutation_p.K56Q	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	56					Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|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						TATCTTACCTTGTCATGGACT	0.418000													12	155					0	0	1	0	0
ANKRD32	84250	broad.mit.edu	37	5	94024355	94024355	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr5:94024355G>A	ENST00000265140.5	+	17	2685	c.2266G>A	c.(2266-2268)Gaa>Aaa	p.E756K		NM_032290.3	NP_115666.2	Q9BQI6	ANR32_HUMAN	ankyrin repeat domain 32	756										NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	13		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)		all cancers(79;3.88e-18)		AAAACAAGTCGAAGGGCTGCC	0.413000													14	49					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158585167	158585167	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:158585167C>T	ENST00000368148.3	-	48	6807	c.6627G>A	c.(6625-6627)atG>atA	p.M2209I	SPTA1_ENST00000368147.3_Missense_Mutation_p.M2206I	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	2209					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)					GTTGACGCTTCATCGCCTGGA	0.483000													65	165					0	0	1	0	0
SAMD5	389432	broad.mit.edu	37	6	147830241	147830241	+	Silent	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr6:147830241G>A	ENST00000367474.1	+	1	179	c.177G>A	c.(175-177)gtG>gtA	p.V59V		NM_001030060.2	NP_001025231.1	Q5TGI4	SAMD5_HUMAN	sterile alpha motif domain containing 5	59	SAM.												Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;9.55e-10)|GBM - Glioblastoma multiforme(68;0.112)		TGGAGGCCGTGCGCCGGCTGC	0.756000													8	6					0	0	1	0	0
MMP13	4322	broad.mit.edu	37	11	102826374	102826374	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:102826374G>A	ENST00000260302.3	-	1	89	c.61C>T	c.(61-63)Ccc>Tcc	p.P21S	MMP13_ENST00000340273.4_Missense_Mutation_p.P21S	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	21					collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)		CTGGGAAGGGGCAGGGCCCGA	0.532000													15	80					0	0	1	0	0
C11orf30	56946	broad.mit.edu	37	11	76183703	76183703	+	Silent	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:76183703G>A	ENST00000529032.1	+	7	927	c.927G>A	c.(925-927)acG>acA	p.T309T	C11orf30_ENST00000525038.1_Silent_p.T324T|C11orf30_ENST00000524767.1_Silent_p.T324T|C11orf30_ENST00000533248.1_Silent_p.T323T|C11orf30_ENST00000524490.1_Silent_p.T310T|C11orf30_ENST00000334736.3_Silent_p.T309T|C11orf30_ENST00000525919.1_Silent_p.T310T|C11orf30_ENST00000343878.3_Silent_p.T309T			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	309	Interaction with BRCA2.				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						TTGTACCAACGTCAGTCATTG	0.463000													17	108					0	0	1	0	0
KRBOX4	55634	broad.mit.edu	37	X	46332310	46332310	+	Nonsense_Mutation	SNP	A	A	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:46332310A>T	ENST00000344302.4	+	6	1010	c.379A>T	c.(379-381)Aga>Tga	p.R127*	KRBOX4_ENST00000478600.1_Intron|KRBOX4_ENST00000487081.1_3'UTR|KRBOX4_ENST00000360017.5_3'UTR|KRBOX4_ENST00000298190.6_Nonsense_Mutation_p.R122*	NM_001129898.1|NM_017776.2	NP_001123370.1|NP_060246.2			KRAB box domain containing 4																		CAGAACATGTAGAAAAAGCAT	0.383000													16	48					0	0	1	0	0
PDE4A	5141	broad.mit.edu	37	19	10528391	10528391	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:10528391G>A	ENST00000380702.2	+	2	104	c.104G>A	c.(103-105)cGt>cAt	p.R35H	PDE4A_ENST00000592685.1_Missense_Mutation_p.R35H			P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	0					signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)	GCCGACCTGCGTCGCCCTCGC	0.726000											OREG0025236	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	16					0	0	1	0	0
PNMAL1	55228	broad.mit.edu	37	19	46973326	46973326	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:46973326G>A	ENST00000313683.10	-	2	1272	c.967C>T	c.(967-969)Cgg>Tgg	p.R323W	PNMAL1_ENST00000602246.1_Intron|PNMAL1_ENST00000438932.2_Missense_Mutation_p.R323W	NM_001103149.1|NM_018215.3	NP_001096619.1|NP_060685.2	Q86V59	PNML1_HUMAN	paraneoplastic Ma antigen family-like 1	323										cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		GCTTCTGCCCGGGCATCCTGA	0.597000													36	197					0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91709255	91709255	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr7:91709255C>G	ENST00000359028.2	+	32	8069	c.7844C>G	c.(7843-7845)gCa>gGa	p.A2615G	AKAP9_ENST00000358100.2_Missense_Mutation_p.A2615G|AKAP9_ENST00000356239.3_Missense_Mutation_p.A2603G			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2615	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GATATATCAGCATTAACCTTG	0.299000			T	BRAF	papillary thyroid								10	60					0	0	1	0	0
GNL1	2794	broad.mit.edu	37	6	30522381	30522381	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr6:30522381C>T	ENST00000376621.3	-	5	1541	c.571G>A	c.(571-573)Gtc>Atc	p.V191I		NM_005275.3	NP_005266.2	P36915	GNL1_HUMAN	guanine nucleotide binding protein-like 1	191					response to DNA damage stimulus|signal transduction|T cell mediated immunity	extracellular space|intracellular	GTP binding|structural molecule activity			cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						ATAAGCAGGACGATGTCAGAC	0.507000													10	55					0	0	1	0	0
OSBP	5007	broad.mit.edu	37	11	59361694	59361694	+	Missense_Mutation	SNP	C	C	T	rs34069056		TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:59361694C>T	ENST00000263847.1	-	8	1825	c.1346G>A	c.(1345-1347)cGc>cAc	p.R449H		NM_002556.2	NP_002547.1	P22059	OSBP1_HUMAN	oxysterol binding protein	449	Sterol binding (By similarity).				lipid transport	Golgi membrane	oxysterol binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		TTCAGTAAGGCGCTGAAGCAT	0.398000													13	51					0	0	1	0	0
DSTYK	25778	broad.mit.edu	37	1	205132893	205132893	+	Silent	SNP	A	A	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:205132893A>G	ENST00000367162.3	-	4	1545	c.1515T>C	c.(1513-1515)tcT>tcC	p.S505S	DSTYK_ENST00000367161.3_Silent_p.S505S|DSTYK_ENST00000367160.4_Intron	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN	dual serine/threonine and tyrosine protein kinase	505						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						AGACATCCTGAGACTTCTCCA	0.433000													10	27					0	0	1	0	0
ATP7A	538	broad.mit.edu	37	X	77284778	77284778	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:77284778C>T	ENST00000341514.6	+	15	3103	c.2948C>T	c.(2947-2949)aCg>aTg	p.T983M	ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Missense_Mutation_p.T905M	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	983					ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						CGAACAGAAACGATAATACGA	0.403000													24	141					0	0	1	0	0
KMT2A	4297	broad.mit.edu	37	11	118370028	118370028	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:118370028A>G	ENST00000534358.1	+	23	5995	c.5972A>G	c.(5971-5973)gAg>gGg	p.E1991G	KMT2A_ENST00000354520.4_Missense_Mutation_p.E1950G|KMT2A_ENST00000389506.5_Missense_Mutation_p.E1988G	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		GTGGTTCCTGAGAATGGATTT	0.408000													25	189					0	0	1	0	0
CHD8	57680	broad.mit.edu	37	14	21897350	21897350	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr14:21897350C>A	ENST00000399982.2	-	2	1052	c.988G>T	c.(988-990)Gcc>Tcc	p.A330S	CHD8_ENST00000557364.1_Missense_Mutation_p.A330S|CHD8_ENST00000555962.1_Intron|CHD8_ENST00000430710.3_Missense_Mutation_p.A51S	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	330	Gln-rich.				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|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|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|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)		TGCCCTTGGGCATTCTTGGCT	0.547000													17	50					1.99824e-07	2.35278e-07	1	1	0
DDX10	1662	broad.mit.edu	37	11	108593863	108593863	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:108593863G>T	ENST00000526794.1	+	13	1671	c.1639G>T	c.(1639-1641)Gaa>Taa	p.E547*	DDX10_ENST00000322536.3_Nonsense_Mutation_p.E547*			Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	547							ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity	p.E547*(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		CGAAGTGGAAGAATTTAGAGC	0.433000			T	NUP98	AML*								15	41					4.7546e-09	5.78967e-09	1	1	0
MUC16	94025	broad.mit.edu	37	19	9089510	9089510	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:9089510C>T	ENST00000397910.4	-	1	2508	c.2305G>A	c.(2305-2307)Gtt>Att	p.V769I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	769	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						GAGGAAAGAACGGCTGAGCTG	0.488000													52	130					0	0	1	0	0
KLHL34	257240	broad.mit.edu	37	X	21674705	21674705	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:21674705C>T	ENST00000379499.2	-	1	1743	c.1202G>A	c.(1201-1203)cGc>cAc	p.R401H		NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN	kelch-like family member 34	401										cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						AGCGTGGAAGCGCGGGTCGTA	0.711000													4	12					0	0	1	0	0
TNK2	10188	broad.mit.edu	37	3	195594628	195594628	+	Silent	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr3:195594628C>A	ENST00000333602.6	-	12	3113	c.2496G>T	c.(2494-2496)gtG>gtT	p.V832V	TNK2_ENST00000381916.2_Silent_p.V910V|TNK2_ENST00000428187.1_Silent_p.V864V|TNK2_ENST00000392400.1_Silent_p.V832V	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	832	EBD domain (By similarity).|Pro-rich.			Missing (in Ref. 4; AAH08884).	positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	GGGCCTGGATCACCTGGGGGG	0.667000													14	20					1.05317e-09	1.30512e-09	1	1	0
KIAA1257	57501	broad.mit.edu	37	3	128711997	128711997	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr3:128711997G>A	ENST00000265068.5	-	2	318	c.151C>T	c.(151-153)Ccg>Tcg	p.P51S	KIAA1257_ENST00000511438.1_Missense_Mutation_p.P51S|KIAA1257_ENST00000510149.1_Intron	NM_020741.2	NP_065792.1	Q9ULG3	K1257_HUMAN	KIAA1257	51										breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						CTGCTGCACGGGCGGTCAGAG	0.602000													36	85					0	0	1	0	0
ZNF676	163223	broad.mit.edu	37	19	22362815	22362815	+	Silent	SNP	T	T	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:22362815T>C	ENST00000397121.2	-	3	2021	c.1704A>G	c.(1702-1704)aaA>aaG	p.K568K		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	568					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				ACTTAAAAGCTTTGCCACATT	0.383000													19	57					0	0	1	0	0
NR4A3	8013	broad.mit.edu	37	9	102609889	102609889	+	Missense_Mutation	SNP	T	T	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr9:102609889T>G	ENST00000330847.1	+	6	1702	c.1658T>G	c.(1657-1659)aTg>aGg	p.M553R	NR4A3_ENST00000395097.2_Missense_Mutation_p.M542R			Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	542					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)				GCACTGAGCATGATCACAGGT	0.473000			T	EWSR1	extraskeletal myxoid chondrosarcoma								22	46					0	0	1	0	0
CENPJ	55835	broad.mit.edu	37	13	25457509	25457509	+	Splice_Site	SNP	T	T	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr13:25457509T>A	ENST00000381884.4	-	17	4010		c.e17-2		CENPJ_ENST00000545981.1_Splice_Site	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J						cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		TTGCCATCACTGtaaaattta	0.328000													12	49					0	0	1	0	0
ZHX2	22882	broad.mit.edu	37	8	123965245	123965245	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr8:123965245G>A	ENST00000314393.4	+	3	2330	c.1495G>A	c.(1495-1497)Gtc>Atc	p.V499I		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	499						cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.V499I(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)			AAGGGGCATCGTCCACATCAC	0.587000													5	52					0	0	1	0	0
OR4C15	81309	broad.mit.edu	37	11	55321907	55321907	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:55321907T>A	ENST00000314644.2	+	1	125	c.125T>A	c.(124-126)aTg>aAg	p.M42K		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	0					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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						AGACTATACATGATCCCTGTT	0.373000										HNSCC(20;0.049)			35	82					0	0	1	0	0
C1GALT1C1	29071	broad.mit.edu	37	X	119761028	119761028	+	Splice_Site	SNP	T	T	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:119761028T>A	ENST00000304661.5	-	2	234		c.e2-2		C1GALT1C1_ENST00000371313.2_Splice_Site	NM_001011551.2	NP_001011551.1	Q96EU7	C1GLC_HUMAN	C1GALT1-specific chaperone 1							integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	11						GCATTTTTCCTATAAAGAAGA	0.308000													9	37					0	0	1	0	0
DIP2C	22982	broad.mit.edu	37	10	408511	408511	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr10:408511C>A	ENST00000280886.6	-	22	2800	c.2713G>T	c.(2713-2715)Ggc>Tgc	p.G905C	DIP2C_ENST00000381496.3_3'UTR|DIP2C_ENST00000540204.1_Missense_Mutation_p.G226C	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	905						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		TGCAGAGAGCCCTCCAGAAAA	0.537000													25	64					5.35356e-11	6.83829e-11	1	1	0
CRABP1	1381	broad.mit.edu	37	15	78635881	78635881	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr15:78635881C>T	ENST00000299529.6	+	3	395	c.290C>T	c.(289-291)aCg>aTg	p.T97M		NM_004378.2	NP_004369.1	P29762	RABP1_HUMAN	cellular retinoic acid binding protein 1	97					multicellular organismal development|signal transduction	cytoplasm	retinal binding|retinol binding|transporter activity			breast(1)|lung(4)|skin(1)	6					Alitretinoin(DB00523)|Etretinate(DB00926)	ATCCACTGCACGCAAACTCTT	0.507000													10	27					0	0	1	0	0
LOC645166	645166	broad.mit.edu	37	1	148932865	148932865	+	RNA	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:148932865G>T	ENST00000539543.1	+	0	121					NR_027355.1																						ACCAAGAGTTGGTGGGAGACG	0.627000													12	280					7.03913e-09	8.50688e-09	1	1	0
SCARA3	51435	broad.mit.edu	37	8	27516182	27516182	+	Silent	SNP	A	A	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr8:27516182A>G	ENST00000301904.3	+	5	515	c.495A>G	c.(493-495)agA>agG	p.R165R	SCARA3_ENST00000337221.4_Silent_p.R165R	NM_016240.2	NP_057324.2	Q6AZY7	SCAR3_HUMAN	scavenger receptor class A, member 3	165					response to oxidative stress|UV protection	collagen|endoplasmic reticulum membrane|Golgi 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)		CCACCAGCAGACAAATCTCCC	0.607000													5	65					0	0	1	0	0
ZFYVE27	118813	broad.mit.edu	37	10	99504558	99504558	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr10:99504558G>T	ENST00000393677.4	+	4	545	c.341G>T	c.(340-342)cGg>cTg	p.R114L	ZFYVE27_ENST00000370610.3_Missense_Mutation_p.R16L|ZFYVE27_ENST00000370613.3_Intron|ZFYVE27_ENST00000356257.4_Missense_Mutation_p.R114L|ZFYVE27_ENST00000453958.2_Missense_Mutation_p.R114L|ZFYVE27_ENST00000357540.4_Intron|ZFYVE27_ENST00000337540.7_Missense_Mutation_p.R82L|ZFYVE27_ENST00000359980.3_Missense_Mutation_p.R114L	NM_144588.6	NP_653189.3	Q5T4F4	ZFY27_HUMAN	zinc finger, FYVE domain containing 27	114					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	p.R114Q(1)		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)		GAGGTTTGCCGGGCACGGCTG	0.592000													15	30					2.48551e-13	3.3145e-13	1	1	0
GRM5	2915	broad.mit.edu	37	11	88717902	88717902	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:88717902A>G	ENST00000393294.3	-	4	1235	c.866T>C	c.(865-867)aTa>aCa	p.I289T	GRM5_ENST00000418177.2_Intron|GRM5_ENST00000393297.1_Intron|GRM5_ENST00000305432.5_Intron|GRM5_ENST00000455756.2_Intron|GRM5_ENST00000305447.4_Intron			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	0					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)	TATTAAAGCTATAGGAGAAAG	0.299000													3	2					0	0	1	0	0
DCTD	1635	broad.mit.edu	37	4	183836692	183836692	+	Silent	SNP	G	G	A	rs139764618		TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr4:183836692G>A	ENST00000438320.2	-	2	320	c.30C>T	c.(28-30)gaC>gaT	p.D10D	DCTD_ENST00000357067.3_Silent_p.D21D|DCTD_ENST00000513383.1_5'UTR|DCTD_ENST00000510370.1_Silent_p.D10D	NM_001921.2	NP_001912.2	P32321	DCTD_HUMAN	dCMP deaminase	10					nucleotide biosynthetic process|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide metabolic process	cytosol	dCMP deaminase activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|urinary_tract(1)	18		all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00666)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.202)		all cancers(43;1.65e-24)|Epithelial(43;3.44e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.39e-10)|Colorectal(24;4.69e-07)|COAD - Colon adenocarcinoma(29;7.07e-05)|STAD - Stomach adenocarcinoma(60;0.000118)|GBM - Glioblastoma multiforme(59;0.000472)|LUSC - Lung squamous cell carcinoma(40;0.00984)|READ - Rectum adenocarcinoma(43;0.0419)		CCAAATAGTCGTCCCGTTTCT	0.403000													24	88					0	0	1	0	0
MYLK	4638	broad.mit.edu	37	3	123419193	123419193	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr3:123419193G>A	ENST00000360772.3	-	19	3500	c.3122C>T	c.(3121-3123)gCc>gTc	p.A1041V	MYLK_ENST00000359169.1_Missense_Mutation_p.A1041V|MYLK_ENST00000475616.1_Missense_Mutation_p.A1041V|MYLK_ENST00000360304.3_Missense_Mutation_p.A1041V|MYLK_ENST00000346322.5_Missense_Mutation_p.A972V			Q15746	MYLK_HUMAN	myosin light chain kinase	1041	6 X 12 AA approximate tandem repeats.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP 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)		GGCAGGCTTGGCGTTGCCCAT	0.552000													39	225					0	0	1	0	0
KIF20A	10112	broad.mit.edu	37	5	137520331	137520331	+	Missense_Mutation	SNP	A	A	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr5:137520331A>C	ENST00000394894.3	+	13	1875	c.1649A>C	c.(1648-1650)gAa>gCa	p.E550A	KIF20A_ENST00000508792.1_Missense_Mutation_p.E532A	NM_005733.2	NP_005724.1	O95235	KI20A_HUMAN	kinesin family member 20A	550					cytokinesis|M phase of mitotic cell cycle|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)			GATGATATTGAAAATGAAGCT	0.448000													17	61					0	0	1	0	0
SYP	6855	broad.mit.edu	37	X	49047930	49047930	+	Silent	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:49047930C>T	ENST00000263233.4	-	6	978	c.906G>A	c.(904-906)ccG>ccA	p.P302P	SYP_ENST00000479808.1_Silent_p.P302P|SYP_ENST00000538567.1_Silent_p.P184P	NM_003179.2	NP_003170.1	P08247	SYPH_HUMAN	synaptophysin	302	Repeats, Gly-rich.				regulation of long-term neuronal synaptic plasticity|regulation of short-term neuronal synaptic plasticity|synaptic vesicle maturation|synaptic vesicle membrane organization	cell junction|integral to synaptic vesicle membrane|synaptosome	calcium ion binding|cholesterol binding|transporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)	15		all_lung(315;0.00016)				GTGCACCCTGCGGGCCGTAGC	0.657000													6	22					0	0	1	0	0
THEMIS2	9473	broad.mit.edu	37	1	28203187	28203187	+	Silent	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:28203187C>A	ENST00000373921.3	+	2	187	c.183C>A	c.(181-183)gtC>gtA	p.V61V	THEMIS2_ENST00000373925.1_Silent_p.V61V|THEMIS2_ENST00000328928.7_Silent_p.V61V|THEMIS2_ENST00000373927.3_Silent_p.V61V	NM_001105556.1	NP_001099026.1			thymocyte selection associated family member 2																		AGAAGGTGGTCTGTGAGAACC	0.617000													30	62					5.60225e-13	7.40474e-13	1	1	0
MAMLD1	10046	broad.mit.edu	37	X	149638355	149638355	+	Silent	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:149638355G>T	ENST00000370401.2	+	4	820	c.510G>T	c.(508-510)ccG>ccT	p.P170P	MAMLD1_ENST00000262858.5_Silent_p.P170P|MAMLD1_ENST00000468306.1_3'UTR|MAMLD1_ENST00000432680.2_Silent_p.P145P|MAMLD1_ENST00000426613.2_Silent_p.P145P			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	170					male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					ACAGCGTGCCGGCTGTAGACC	0.488000													14	84					1.3612e-06	1.56654e-06	1	1	0
MKNK2	2872	broad.mit.edu	37	19	2039645	2039645	+	Silent	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:2039645C>T	ENST00000250896.3	-	14	1609	c.1365G>A	c.(1363-1365)tcG>tcA	p.S455S	MKNK2_ENST00000309340.7_Intron|MKNK2_ENST00000591601.1_Silent_p.S455S|MKNK2_ENST00000591142.1_Intron|MKNK2_ENST00000541165.1_Silent_p.S324S	NM_199054.2	NP_951009.1	Q9HBH9	MKNK2_HUMAN	MAP kinase interacting serine/threonine kinase 2	455					cell surface receptor linked signaling pathway|intracellular protein kinase cascade|regulation of translation		ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|kidney(3)|large_intestine(3)|lung(3)	10		Ovarian(11;2.11e-07)|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)		CCACTGGGGCCGAGGACAGAC	0.622000													4	34					0	0	1	0	0
BRI3BP	140707	broad.mit.edu	37	12	125509758	125509758	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr12:125509758G>A	ENST00000341446.8	+	3	629	c.538G>A	c.(538-540)Gag>Aag	p.E180K		NM_080626.5	NP_542193.3	Q8WY22	BRI3B_HUMAN	BRI3 binding protein	180						integral to membrane|mitochondrial outer membrane				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)		GTACGAGGGCGAGCCGGAGAA	0.627000													17	65					0	0	1	0	0
GPR26	2849	broad.mit.edu	37	10	125426339	125426339	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr10:125426339C>A	ENST00000284674.1	+	1	469	c.416C>A	c.(415-417)gCc>gAc	p.A139D		NM_153442.3	NP_703143.1	Q8NDV2	GPR26_HUMAN	G protein-coupled receptor 26	139					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				ACCTTCCCAGCCGCCGCGCTC	0.716000													5	14					0.014758	0.0151151	1	1	0
MED14	9282	broad.mit.edu	37	X	40534478	40534478	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:40534478G>T	ENST00000324817.1	-	22	3134	c.3016C>A	c.(3016-3018)Caa>Aaa	p.Q1006K	MED14_ENST00000496531.1_5'UTR	NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	1006	Pro-rich.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ATTACCTGTTGCTGGGGTGGT	0.438000													12	83					9.05144e-12	1.17695e-11	1	1	0
NGDN	25983	broad.mit.edu	37	14	23944786	23944786	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr14:23944786C>T	ENST00000397154.3	+	5	315	c.302C>T	c.(301-303)cCc>cTc	p.P101L	NGDN_ENST00000408901.3_Missense_Mutation_p.P101L			Q8NEJ9	NGDN_HUMAN	neuroguidin, EIF4E binding protein	101	Necessary for interaction with EIF4E (By similarity).				regulation of translation	axon|cytoplasm|dendrite|filopodium|nucleus				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	12	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		AAGCTTCGTCCCTTGGACCAA	0.438000													27	72					0	0	1	0	0
PPIL4	85313	broad.mit.edu	37	6	149854650	149854650	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr6:149854650C>G	ENST00000253329.2	-	7	654	c.622G>C	c.(622-624)Gta>Cta	p.V208L		NM_139126.3	NP_624311.1	Q8WUA2	PPIL4_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 4	208					protein folding	nucleus	nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|RNA binding			endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	13		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885)		ATTTCTTCTACTTCCTCAGCT	0.318000													17	20					0	0	1	0	0
DDX26B	203522	broad.mit.edu	37	X	134680705	134680705	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:134680705G>A	ENST00000370752.4	+	5	842	c.508G>A	c.(508-510)Gcc>Acc	p.A170T	DDX26B_ENST00000493637.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	170	VWFA.									large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					AAGGTTATTTGCCCTGGTGTT	0.468000													44	83					0	0	1	0	0
NR5A1	2516	broad.mit.edu	37	9	127262440	127262440	+	Nonsense_Mutation	SNP	T	T	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr9:127262440T>A	ENST00000373588.4	-	4	995	c.799A>T	c.(799-801)Aga>Tga	p.R267*		NM_004959.4	NP_004950.2	Q13285	STF1_HUMAN	nuclear receptor subfamily 5, group A, member 1	267	Important for dimerization.|Ligand-binding.				cell-cell signaling|male gonad development|positive regulation of transcription from RNA polymerase II promoter|primary sex determination|regulation of steroid biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|phospholipid binding|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			lung(1)|upper_aerodigestive_tract(1)	2						TCGGCCATTCTGCACAGGAGG	0.682000													25	33					0	0	1	0	0
POU2F3	25833	broad.mit.edu	37	11	120178191	120178191	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:120178191C>A	ENST00000260264.4	+	9	813	c.779C>A	c.(778-780)tCc>tAc	p.S260Y	POU2F3_ENST00000543440.2_Missense_Mutation_p.S258Y	NM_001244682.1	NP_001231611.1	Q9UKI9	PO2F3_HUMAN	POU class 2 homeobox 3	258					negative regulation by host of viral transcription	cytoplasm	sequence-specific DNA binding			large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)		CCTGCAGAGTCCTCTCCGTCA	0.577000													43	122					3.86361e-14	5.26492e-14	1	1	0
COL14A1	7373	broad.mit.edu	37	8	121219204	121219204	+	Silent	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr8:121219204G>A	ENST00000297848.3	+	10	1332	c.1062G>A	c.(1060-1062)ggG>ggA	p.G354G	COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000309791.4_Silent_p.G354G|COL14A1_ENST00000537875.1_Silent_p.G354G|COL14A1_ENST00000247781.3_Silent_p.G259G	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	354	Fibronectin type-III 2.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CCATCACTGGGCCGCCTACGG	0.398000													9	15					0	0	1	0	0
TCEAL4	79921	broad.mit.edu	37	X	102841902	102841902	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:102841902C>T	ENST00000472745.1	+	3	851	c.299C>T	c.(298-300)cCa>cTa	p.P100L	TCEAL4_ENST00000472484.1_Missense_Mutation_p.P100L|TCEAL4_ENST00000372629.4_Missense_Mutation_p.P243L|TCEAL4_ENST00000415568.2_Missense_Mutation_p.P100L|TCEAL4_ENST00000494801.1_Missense_Mutation_p.P100L|TCEAL4_ENST00000468024.1_Missense_Mutation_p.P100L			Q96EI5	TCAL4_HUMAN	transcription elongation factor A (SII)-like 4	100	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				endometrium(1)|kidney(1)|large_intestine(2)|skin(2)	6						gagggaaagccagagagtgaa	0.517000													7	31					0	0	1	0	0
NLRP4	147945	broad.mit.edu	37	19	56369433	56369433	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:56369433G>T	ENST00000301295.6	+	3	1096	c.674G>T	c.(673-675)aGa>aTa	p.R225I	NLRP4_ENST00000346986.5_Missense_Mutation_p.R225I|NLRP4_ENST00000587891.1_Missense_Mutation_p.R150I	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	225	NACHT.						ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CAACCGGAGAGACTCTTGTTC	0.557000													25	66					4.87955e-14	6.6212e-14	1	1	0
PADI4	23569	broad.mit.edu	37	1	17682574	17682574	+	Silent	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:17682574G>T	ENST00000375448.4	+	12	1433	c.1407G>T	c.(1405-1407)gtG>gtT	p.V469V	PADI4_ENST00000487048.1_3'UTR	NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	469					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	GGCTGTCCGTGGGCCACGTGG	0.617000													15	37					2.61681e-11	3.37717e-11	1	1	0
PTCHD4	442213	broad.mit.edu	37	6	48036047	48036047	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr6:48036047G>C	ENST00000543600.1	-	1	333	c.294C>G	c.(292-294)atC>atG	p.I98M	PTCHD4_ENST00000339488.4_Missense_Mutation_p.I115M			Q6ZW05	CF138_HUMAN	patched domain containing 4	115						integral to membrane	hedgehog receptor activity										GGGAGAGGAGGATCACCCTGC	0.582000													17	92					0	0	1	0	0
BAP1	8314	broad.mit.edu	37	3	52437152	52437152	+	Splice_Site	SNP	A	A	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr3:52437152A>G	ENST00000460680.1	-	14	2362		c.e14+1		BAP1_ENST00000296288.5_Splice_Site	NM_004656.2	NP_004647.1	Q92560	BAP1_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)						monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		ACGGAGGCTCACCTTGGGTGA	0.567000			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""							7	31					0	0	1	0	0
XYLT1	64131	broad.mit.edu	37	16	17232259	17232259	+	Missense_Mutation	SNP	C	C	A	rs147101412	by1000genomes	TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr16:17232259C>A	ENST00000261381.6	-	8	1801	c.1717G>T	c.(1717-1719)Ggc>Tgc	p.G573C	CTD-2576D5.4_ENST00000567344.1_RNA	NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	573					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|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						GGGGAGCAGCCGCACCAGTCC	0.577000													46	34					4.64027e-19	6.75852e-19	1	1	0
NOX3	50508	broad.mit.edu	37	6	155764457	155764457	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr6:155764457C>A	ENST00000159060.2	-	5	538	c.436G>T	c.(436-438)Ggc>Tgc	p.G146C		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	146	Ferric oxidoreductase.						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			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)		GGGGTGTTGCCCAGCTTGGAA	0.567000													20	26					1.55795e-14	2.13078e-14	1	1	0
FCRL3	115352	broad.mit.edu	37	1	157665995	157665995	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:157665995G>T	ENST00000368184.3	-	7	1258	c.967C>A	c.(967-969)Cac>Aac	p.H323N	FCRL3_ENST00000368186.5_Missense_Mutation_p.H323N|FCRL3_ENST00000473231.1_5'UTR|RP11-367J7.3_ENST00000453692.1_RNA	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	323	Ig-like C2-type 4.					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)					CCTTCTTTGTGCCAGGAGAAT	0.522000													94	71					1.82171e-49	2.95666e-49	1	1	0
STX2	2054	broad.mit.edu	37	12	131285768	131285768	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr12:131285768A>G	ENST00000261653.6	-	8	771	c.605T>C	c.(604-606)aTg>aCg	p.M202T	STX2_ENST00000392373.2_Missense_Mutation_p.M202T	NM_001980.3	NP_001971.2	P32856	STX2_HUMAN	syntaxin 2	202	t-SNARE coiled-coil homology.				acrosome reaction|ectoderm development|intracellular protein transport|organ morphogenesis|signal transduction	basolateral plasma membrane|integral to membrane|microsome|soluble fraction	calcium-dependent protein binding|SNAP receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)	16	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.79e-06)|all cancers(50;5.27e-05)|Epithelial(86;5.29e-05)		CTCCAGCTTCATGATGTCCTT	0.383000													4	43					0	0	1	0	0
NAIF1	203245	broad.mit.edu	37	9	130829166	130829166	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr9:130829166C>A	ENST00000373078.4	-	1	434	c.215G>T	c.(214-216)tGg>tTg	p.W72L		NM_197956.3	NP_931045.1	Q69YI7	NAIF1_HUMAN	nuclear apoptosis inducing factor 1	72					apoptosis|induction of apoptosis	nucleus				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GAGGTCAGACCACTTCTTCTT	0.687000													7	115					5.18039e-06	5.84194e-06	1	1	0
REXO1	57455	broad.mit.edu	37	19	1827553	1827553	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:1827553C>T	ENST00000170168.4	-	2	1329	c.1235G>A	c.(1234-1236)cGt>cAt	p.R412H		NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	412						nucleus	exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|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)		CTTGTCCGCACGGGGCTTCTC	0.682000													8	33					0	0	1	0	0
MED29	55588	broad.mit.edu	37	19	39882062	39882062	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:39882062G>C	ENST00000315588.5	+	1	112	c.63G>C	c.(61-63)aaG>aaC	p.K21N	MED29_ENST00000594368.1_5'UTR|MED29_ENST00000599213.2_5'UTR	NM_017592.1	NP_060062.1	Q9NX70	MED29_HUMAN	mediator complex subunit 29	168					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	protein binding			lung(2)|ovary(1)|pancreas(1)	4	all_cancers(60;7.82e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;1.04e-26)|all cancers(26;7.68e-24)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			ACGCGAGGAAGATGGCTGCAT	0.617000													10	26					0	0	1	0	0
PCDHB13	56123	broad.mit.edu	37	5	140594255	140594255	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr5:140594255G>C	ENST00000341948.4	+	1	747	c.560G>C	c.(559-561)aGt>aCt	p.S187T		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN		187	Cadherin 2.				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)			CGCAAACGCAGTGATGGCAGG	0.502000													23	13					0	0	1	0	0
SH3KBP1	30011	broad.mit.edu	37	X	19554562	19554562	+	Silent	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:19554562G>A	ENST00000397821.3	-	18	2261	c.1971C>T	c.(1969-1971)gaC>gaT	p.D657D	SH3KBP1_ENST00000379698.4_Silent_p.D620D|SH3KBP1_ENST00000379716.1_Silent_p.D419D|SH3KBP1_ENST00000541422.1_Silent_p.D396D	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	657					apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						CTTTCTTTATGTCGTTCACTT	0.358000													5	20					0	0	1	0	0
NR4A3	8013	broad.mit.edu	37	9	102590799	102590799	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr9:102590799G>A	ENST00000330847.1	+	2	552	c.508G>A	c.(508-510)Gca>Aca	p.A170T	NR4A3_ENST00000395097.2_Missense_Mutation_p.A159T|NR4A3_ENST00000338488.4_Missense_Mutation_p.A159T			Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	159					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)				ATGGGACGAGGCACTGCCCTC	0.736000			T	EWSR1	extraskeletal myxoid chondrosarcoma								4	39					0	0	1	0	0
FRYL	285527	broad.mit.edu	37	4	48555307	48555307	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr4:48555307A>G	ENST00000358350.4	-	36	4964	c.4360T>C	c.(4360-4362)Tca>Cca	p.S1454P	FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000503238.1_Missense_Mutation_p.S1454P|FRYL_ENST00000537810.1_Missense_Mutation_p.S1454P|FRYL_ENST00000507711.1_Missense_Mutation_p.S1454P|FRYL_ENST00000264319.7_5'UTR	NM_015030.1	NP_055845.1	O94915	FRYL_HUMAN	FRY-like	1454					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						GTGACCCCTGAACTGACAGGA	0.438000													13	82					0	0	1	0	0
C8orf74	203076	broad.mit.edu	37	8	10555134	10555134	+	Silent	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr8:10555134G>T	ENST00000304519.5	+	3	296	c.267G>T	c.(265-267)acG>acT	p.T89T	RP1L1_ENST00000329335.3_Intron	NM_001040032.1	NP_001035121.1	Q6P047	CH074_HUMAN	chromosome 8 open reading frame 74	89										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13				COAD - Colon adenocarcinoma(149;0.0811)		AGGCTGTGACGATCCTGGGGA	0.587000													42	70					3.66854e-30	5.73817e-30	1	1	0
PDZD2	23037	broad.mit.edu	37	5	31799653	31799653	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr5:31799653C>T	ENST00000438447.1	+	2	686	c.298C>T	c.(298-300)Cgc>Tgc	p.R100C	PDZD2_ENST00000282493.3_Missense_Mutation_p.R100C			O15018	PDZD2_HUMAN	PDZ domain containing 2	100	PDZ 1.				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						TGGTGAAAAGCGCAGGGGGGG	0.572000													15	210					0	0	1	0	0
HFM1	164045	broad.mit.edu	37	1	91782016	91782016	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:91782016C>T	ENST00000370425.3	-	26	2928	c.2830G>A	c.(2830-2832)Gca>Aca	p.A944T	HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000370424.3_Missense_Mutation_p.A623T|HFM1_ENST00000294696.5_Missense_Mutation_p.A176T	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	944	SEC63.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TTTACGATTGCATTTGACAAT	0.264000													13	48					0	0	1	0	0
BSX	390259	broad.mit.edu	37	11	122852304	122852304	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:122852304G>T	ENST00000343035.2	-	1	124	c.76C>A	c.(76-78)Ctg>Atg	p.L26M		NM_001098169.1	NP_001091639.1	Q3C1V8	BSH_HUMAN	brain-specific homeobox	26										endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	10		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;0.0361)		TTGTGCAGCAGGATGTCCTCG	0.587000													6	12					0.00116845	0.00122986	1	1	0
CRYGS	1427	broad.mit.edu	37	3	186256678	186256678	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr3:186256678C>A	ENST00000392499.2	-	4	683	c.344G>T	c.(343-345)tGc>tTc	p.C115F	CRYGS_ENST00000307944.5_Missense_Mutation_p.C115F	NM_017541.2	NP_060011.1	P22914	CRBS_HUMAN	crystallin, gamma S	115	Beta/gamma crystallin 'Greek key' 3.						structural constituent of eye lens			endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	11	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.5e-22)	GBM - Glioblastoma multiforme(93;0.0906)		GATGGAAGGGCAATCTTCGGT	0.468000													14	26					0.000151284	0.000164325	1	1	0
CXorf36	79742	broad.mit.edu	37	X	45059913	45059913	+	Silent	SNP	A	A	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:45059913A>G	ENST00000398000.2	-	1	233	c.159T>C	c.(157-159)acT>acC	p.T53T	RP11-342D14.1_ENST00000450527.1_RNA|CXorf36_ENST00000377934.4_Silent_p.T53T|RP11-342D14.1_ENST00000438181.1_RNA	NM_176819.3	NP_789789.2	Q9H7Y0	CX036_HUMAN	chromosome X open reading frame 36	53						extracellular region				endometrium(1)|large_intestine(2)|lung(4)	7						GACCGAGGAAAGTCCTTCCAA	0.438000													18	29					0	0	1	0	0
SREBF2	6721	broad.mit.edu	37	22	42276884	42276884	+	Silent	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr22:42276884C>T	ENST00000361204.4	+	10	2092	c.1926C>T	c.(1924-1926)ttC>ttT	p.F642F		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	642					cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	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						AGAAAGTCTTCCAGTGCCGGC	0.657000													26	33					0	0	1	0	0
DLG5	9231	broad.mit.edu	37	10	79571778	79571778	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr10:79571778T>A	ENST00000372391.2	-	22	4231	c.4226A>T	c.(4225-4227)cAg>cTg	p.Q1409L	DLG5_ENST00000459739.1_5'UTR|DLG5_ENST00000372388.2_Missense_Mutation_p.Q1069L	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1409	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)			GAGCCGCGCCTGCTGCTCCGT	0.652000													34	51					0	0	1	0	0
EPB41L4B	54566	broad.mit.edu	37	9	111936881	111936881	+	Silent	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr9:111936881G>A	ENST00000374566.3	-	26	3173	c.2656C>T	c.(2656-2658)Ctg>Ttg	p.L886L		NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	886						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						TCTCTCTCCAGTTCCTGCCGG	0.443000													14	28					0	0	1	0	0
DLD	1738	broad.mit.edu	37	7	107556053	107556053	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr7:107556053C>T	ENST00000205402.5	+	9	1068	c.787C>T	c.(787-789)Cgc>Tgc	p.R263C	DLD_ENST00000440410.1_Missense_Mutation_p.R240C|DLD_ENST00000437604.2_Missense_Mutation_p.R215C|DLD_ENST00000537148.1_Missense_Mutation_p.R164C	NM_000108.3	NP_000099.2	P09622	DLDH_HUMAN	dihydrolipoamide dehydrogenase	263					branched chain family amino acid catabolic process|cell redox homeostasis|lysine catabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle	mitochondrial matrix	dihydrolipoyl dehydrogenase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(10)|prostate(1)	20					NADH(DB00157)	AAACTTTCAACGCATCCTTCA	0.353000													5	53					0	0	1	0	0
OR8D2	283160	broad.mit.edu	37	11	124189627	124189627	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:124189627G>T	ENST00000357438.2	-	1	557	c.467C>A	c.(466-468)gCc>gAc	p.A156D		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, member 2	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		ATGGACTGTGGCCCACAGAAA	0.448000													23	90					3.28513e-13	4.36008e-13	1	1	0
ERCC6	2074	broad.mit.edu	37	10	50666958	50666958	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr10:50666958T>A	ENST00000355832.5	-	21	4463	c.4385A>T	c.(4384-4386)cAg>cTg	p.Q1462L	ERCC6_ENST00000542458.1_Missense_Mutation_p.Q832L|RP11-123B3.2_ENST00000423283.1_RNA	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6	1462					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|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus 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						GACACAAGACTGTGATGCAGA	0.463000								Direct reversal of damage;Nucleotide excision repair (NER)					44	81					0	0	1	0	0
CNTN5	53942	broad.mit.edu	37	11	99932087	99932087	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:99932087G>C	ENST00000524871.1	+	10	1414	c.1124G>C	c.(1123-1125)cGt>cCt	p.R375P	CNTN5_ENST00000418526.2_Missense_Mutation_p.R301P|CNTN5_ENST00000527185.1_Missense_Mutation_p.R375P|CNTN5_ENST00000528682.1_Missense_Mutation_p.R375P|CNTN5_ENST00000279463.3_Missense_Mutation_p.R375P	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	375	Ig-like C2-type 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding	p.R375H(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		GAAAACTCACGTGGAAAAAAT	0.428000													21	97					0	0	1	0	0
PROX2	283571	broad.mit.edu	37	14	75329870	75329870	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr14:75329870A>G	ENST00000556084.2	-	1	667	c.668T>C	c.(667-669)cTa>cCa	p.L223P	PROX2_ENST00000445876.1_Missense_Mutation_p.L223P|PROX2_ENST00000556489.2_Missense_Mutation_p.L223P	NM_001080408.2	NP_001073877.2	Q3B8N5	PROX2_HUMAN	prospero homeobox 2	223					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			kidney(1)|large_intestine(2)|lung(3)	6			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)		CAGAATCTCTAGTGAAGCTGG	0.537000													53	65					0	0	1	0	0
MUM1L1	139221	broad.mit.edu	37	X	105449859	105449859	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:105449859T>C	ENST00000337685.2	+	5	1219	c.434T>C	c.(433-435)cTt>cCt	p.L145P	MUM1L1_ENST00000357175.2_Missense_Mutation_p.L145P|MUM1L1_ENST00000372552.1_Missense_Mutation_p.L145P	NM_152423.4	NP_689636.3	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	145										autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						CCAGGGTGTCTTGAGGAAAGG	0.428000													7	33					0	0	1	0	0
NARG2	79664	broad.mit.edu	37	15	60742005	60742005	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr15:60742005C>G	ENST00000261520.4	-	10	1395	c.1161G>C	c.(1159-1161)gaG>gaC	p.E387D	NARG2_ENST00000439632.1_Missense_Mutation_p.E250D	NM_024611.4	NP_078887.2	Q659A1	NARG2_HUMAN	NMDA receptor regulated 2	387						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						TTTCAAGACTCTCAATTTTTC	0.348000													26	64					0	0	1	0	0
ZNF337	26152	broad.mit.edu	37	20	25656525	25656525	+	Nonsense_Mutation	SNP	G	G	A	rs16987972		TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr20:25656525G>A	ENST00000376436.1	-	4	1938	c.1399C>T	c.(1399-1401)Cga>Tga	p.R467*	RP4-694B14.5_ENST00000439498.1_RNA|RP4-694B14.5_ENST00000455791.1_RNA|ZNF337_ENST00000538750.1_Nonsense_Mutation_p.R435*|RP4-694B14.5_ENST00000414393.1_RNA|ZNF337_ENST00000252979.5_Nonsense_Mutation_p.R467*					zinc finger protein 337											breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ATAAAGCCTCGTCCACAGTCC	0.468000													20	156					0	0	1	0	0
OR9I1	219954	broad.mit.edu	37	11	57886529	57886529	+	Silent	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:57886529G>A	ENST00000302610.1	-	1	387	c.388C>T	c.(388-390)Ctg>Ttg	p.L130L	OR9Q1_ENST00000335397.3_Intron	NM_001005211.1	NP_001005211.1	Q8NGQ6	OR9I1_HUMAN	olfactory receptor, family 9, subfamily I, member 1	130					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|liver(1)|lung(15)|pancreas(1)|skin(1)|urinary_tract(1)	23		Breast(21;0.0589)				GTATAGAGCAGTGGGTTGCGA	0.557000													18	35					0	0	1	0	0
RIMKLB	57494	broad.mit.edu	37	12	8906616	8906616	+	Silent	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr12:8906616C>T	ENST00000357529.3	+	6	1886	c.624C>T	c.(622-624)gtC>gtT	p.V208V	RIMKLB_ENST00000535829.1_Silent_p.V208V|RIMKLB_ENST00000299673.5_3'UTR|RIMKLB_ENST00000538135.1_Silent_p.V208V	NM_020734.2	NP_065785.2	Q9ULI2	RIMKB_HUMAN	ribosomal modification protein rimK-like family member B	208	ATP-grasp.				protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						GTGTCATTGTCGTGGGAGGCC	0.443000													34	79					0	0	1	0	0
PLCH1	23007	broad.mit.edu	37	3	155199898	155199898	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr3:155199898C>A	ENST00000460012.1	-	23	4184	c.3827G>T	c.(3826-3828)tGg>tTg	p.W1276L	PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000414191.1_Missense_Mutation_p.W1276L|PLCH1_ENST00000340059.7_Missense_Mutation_p.W1314L|PLCH1_ENST00000334686.6_Missense_Mutation_p.W1276L|PLCH1_ENST00000494598.1_Intron			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1314					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TTTTGGTAACCAGCCACGAGA	0.498000													22	91					5.26018e-13	6.96081e-13	1	1	0
UBR5	51366	broad.mit.edu	37	8	103354709	103354709	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr8:103354709G>A	ENST00000520539.1	-	9	1696	c.1090C>T	c.(1090-1092)Cct>Tct	p.P364S	UBR5_ENST00000220959.4_Missense_Mutation_p.P364S|UBR5_ENST00000521922.1_Missense_Mutation_p.P358S	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	364					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			ACCTTATCAGGCCACCACTGC	0.408000													26	72					0	0	1	0	0
ASTE1	28990	broad.mit.edu	37	3	130743267	130743267	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr3:130743267G>T	ENST00000264992.3	-	3	1325	c.884C>A	c.(883-885)tCc>tAc	p.S295Y	ASTE1_ENST00000514044.1_Missense_Mutation_p.S295Y	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN	asteroid homolog 1 (Drosophila)	295					DNA repair		nuclease activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						TTCTTCCATGGAACAGCAGAG	0.433000													23	47					9.57634e-11	1.21767e-10	1	1	0
IGFL4	444882	broad.mit.edu	37	19	46543644	46543644	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:46543644G>T	ENST00000377697.1	-	3	154	c.101C>A	c.(100-102)cCc>cAc	p.P34H	IGFL4_ENST00000601672.1_5'UTR|IGFL4_ENST00000595006.1_5'UTR	NM_001002923.1	NP_001002923.1	Q6B9Z1	IGFL4_HUMAN	IGF-like family member 4	34						extracellular region				cervix(1)|kidney(1)|lung(1)	3		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.0036)|GBM - Glioblastoma multiforme(486;0.022)|Epithelial(262;0.208)		CCCGCACCTGGGCGCTGGCTG	0.612000													21	45					7.45023e-12	9.6987e-12	1	1	0
DIP2B	57609	broad.mit.edu	37	12	51090959	51090959	+	Splice_Site	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr12:51090959G>T	ENST00000301180.5	+	17	2082		c.e17+1			NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)							nucleus	catalytic activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						CAATCCGCAGGTACTGTTCAG	0.468000													12	30					1.08611e-07	1.28488e-07	1	1	0
TTN	7273	broad.mit.edu	37	2	179446445	179446445	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr2:179446445C>T	ENST00000589042.1	-	316	66774	c.66550G>A	c.(66550-66552)Ggc>Agc	p.G22184S	TTN_ENST00000591111.1_Missense_Mutation_p.G20543S|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G13244S|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G13311S|TTN_ENST00000342992.6_Missense_Mutation_p.G19616S|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G13119S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	20543							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)			GGGCTGCCGCCGTCATAGGCT	0.488000													3	11					0	0	1	0	0
ADORA1	134	broad.mit.edu	37	1	203134576	203134576	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:203134576A>G	ENST00000367236.4	+	3	1450	c.529A>G	c.(529-531)Atg>Gtg	p.M177V	ADORA1_ENST00000472535.1_3'UTR|ADORA1_ENST00000309502.3_Missense_Mutation_p.M177V|ADORA1_ENST00000337894.4_Missense_Mutation_p.M177V|ADORA1_ENST00000367235.1_3'UTR	NM_001048230.1	NP_001041695.1	P30542	AA1R_HUMAN	adenosine A1 receptor	177					induction of apoptosis by extracellular signals|inflammatory response|nervous system development|phagocytosis	integral to plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(9)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25					Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Gabapentin(DB00996)|Imipramine(DB00458)|Pegademase bovine(DB00061)|Theophylline(DB00277)	GGTCATCAGCATGGAGTACAT	0.567000													9	72					0	0	1	0	0
ITIH6	347365	broad.mit.edu	37	X	54783890	54783890	+	Nonsense_Mutation	SNP	T	T	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:54783890T>A	ENST00000218436.6	-	8	2646	c.2617A>T	c.(2617-2619)Aag>Tag	p.K873*		NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	873	Pro-rich.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity										GTCTCAGGCTTGGAAAGTGAT	0.512000													33	44					0	0	1	0	0
GPR132	29933	broad.mit.edu	37	14	105521800	105521800	+	Translation_Start_Site	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr14:105521800C>A	ENST00000329797.3	-	0	869				GPR132_ENST00000392585.2_Intron|GPR132_ENST00000539291.2_De_novo_Start_OutOfFrame|GPR132_ENST00000546679.1_Intron	NM_013345.2	NP_037477.1	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132						response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		tcggcagaaccttctcatctt	0.517000													40	72					2.87052e-16	4.05197e-16	1	1	0
RELB	5971	broad.mit.edu	37	19	45515439	45515439	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:45515439G>A	ENST00000221452.8	+	4	559	c.409G>A	c.(409-411)Ggc>Agc	p.G137S	RELB_ENST00000540120.1_Missense_Mutation_p.G137S|RELB_ENST00000505236.1_Missense_Mutation_p.G134S	NM_006509.3	NP_006500.2	Q01201	RELB_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog B	137	RHD.					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1)	12		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)		CAAGCAGCGCGGCATGCGCTT	0.746000													20	21					0	0	1	0	0
GPR123	84435	broad.mit.edu	37	10	134884576	134884576	+	Silent	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr10:134884576C>A	ENST00000607359.1	+	1	144	c.144C>A	c.(142-144)acC>acA	p.T48T				Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	0						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)		GGGGCCCAACCGCTGGGGGCC	0.667000													10	23					2.17888e-05	2.41344e-05	1	1	0
CNOT6	57472	broad.mit.edu	37	5	179991505	179991505	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr5:179991505G>T	ENST00000393356.1	+	7	826	c.402G>T	c.(400-402)caG>caT	p.Q134H	CNOT6_ENST00000502447.1_3'UTR|CNOT6_ENST00000261951.4_Missense_Mutation_p.Q134H			Q9ULM6	CNOT6_HUMAN	CCR4-NOT transcription complex, subunit 6	134					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	exonuclease activity|metal ion binding|protein binding|RNA binding			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1)	23	all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.023)		CCCTTACCCAGGATATATTGA	0.303000													27	45					4.22769e-11	5.44046e-11	1	1	0
STK3	6788	broad.mit.edu	37	8	99560300	99560300	+	Silent	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr8:99560300C>A	ENST00000523601.1	-	11	1521	c.1122G>T	c.(1120-1122)ggG>ggT	p.G374G	STK3_ENST00000419617.2_Silent_p.G346G	NM_001256312.1	NP_001243241.1	Q13188	STK3_HUMAN	serine/threonine kinase 3	346	Poly-Glu.				apoptosis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of apoptosis	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein dimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17	Breast(36;2.4e-06)	Breast(495;0.106)	OV - Ovarian serous cystadenocarcinoma(57;0.0382)	KIRC - Kidney renal clear cell carcinoma(542;9.44e-06)		TGGTCTGGGCCCCTTCACTCA	0.498000													7	24					3.09899e-07	3.62599e-07	1	1	0
MALAT1	378938	broad.mit.edu	37	11	65268107	65268107	+	RNA	SNP	A	A	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:65268107A>T	ENST00000534336.1	+	0	2875					NR_002819.2																						GAGCGAGTGCAATTTGGTGAT	0.552000													32	125					0	0	1	0	0
GCC1	79571	broad.mit.edu	37	7	127222280	127222280	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr7:127222280T>A	ENST00000321407.2	-	2	2540	c.2116A>T	c.(2116-2118)Atc>Ttc	p.I706F		NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	706						Golgi membrane|plasma membrane	protein binding			breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						TTCTTTTCGATGTGGCTCTGC	0.592000													20	107					0	0	1	0	0
TAS2R41	259287	broad.mit.edu	37	7	143175319	143175319	+	Silent	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr7:143175319C>A	ENST00000408916.1	+	1	354	c.354C>A	c.(352-354)acC>acA	p.T118T	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	118					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					CACACTCCACCTTCCTGTGGC	0.527000													35	39					2.48696e-23	3.76654e-23	1	1	0
CA10	56934	broad.mit.edu	37	17	50008355	50008355	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr17:50008355T>A	ENST00000451037.2	-	3	1214	c.274A>T	c.(274-276)Agg>Tgg	p.R92W	CA10_ENST00000340813.6_Missense_Mutation_p.R98W|CA10_ENST00000570565.1_Missense_Mutation_p.R17W|CA10_ENST00000285273.4_Missense_Mutation_p.R92W|CA10_ENST00000442502.2_Missense_Mutation_p.R92W	NM_020178.4	NP_064563.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	92					brain development					cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			CTTACCTTCCTGCCCCCCGTG	0.493000													65	191					0	0	1	0	0
NTNG1	22854	broad.mit.edu	37	1	108023382	108023382	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:108023382C>A	ENST00000370067.1	+	7	1930	c.1303C>A	c.(1303-1305)Cag>Aag	p.Q435K	NTNG1_ENST00000542803.1_Missense_Mutation_p.Q514K|NTNG1_ENST00000370074.4_Missense_Mutation_p.Q413K|NTNG1_ENST00000370072.3_Missense_Mutation_p.Q469K|NTNG1_ENST00000370070.2_Missense_Mutation_p.Q435K|NTNG1_ENST00000370065.1_Missense_Mutation_p.Q469K|NTNG1_ENST00000370066.1_Missense_Mutation_p.Q455K|NTNG1_ENST00000370073.2_Missense_Mutation_p.Q514K|NTNG1_ENST00000370061.3_Missense_Mutation_p.Q480K|NTNG1_ENST00000370068.1_Missense_Mutation_p.Q514K|NTNG1_ENST00000370071.2_Missense_Mutation_p.Q455K			Q9Y2I2	NTNG1_HUMAN	netrin G1	514	Laminin EGF-like 3.				axonogenesis	anchored to plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		CGACTCTGGCCAGGGCGCGCC	0.706000													4	13					2.56e-06	2.90591e-06	1	1	0
LRFN3	79414	broad.mit.edu	37	19	36435504	36435504	+	Silent	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:36435504G>A	ENST00000588831.1	+	4	2524	c.1470G>A	c.(1468-1470)cgG>cgA	p.R490R	LRFN3_ENST00000246529.3_Silent_p.R490R			Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III domain containing 3	490	Fibronectin type-III.				cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CGTCAGGCCGGACCTACGATC	0.711000													3	17					0	0	1	0	0
PKNOX2	63876	broad.mit.edu	37	11	125267917	125267917	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:125267917C>T	ENST00000298282.9	+	7	818	c.547C>T	c.(547-549)Ccc>Tcc	p.P183S	PKNOX2_ENST00000530517.1_3'UTR|PKNOX2_ENST00000542175.1_Missense_Mutation_p.P119S	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	183						nucleus	sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		TCTAGGGGGGCCCTACTCCCC	0.537000													6	103					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144941852	144941852	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr8:144941852G>A	ENST00000525985.1	-	2	5641	c.5570C>T	c.(5569-5571)gCa>gTa	p.A1857V				P58107	EPIPL_HUMAN	epiplakin 1	1857						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)			GAACAGGTCTGCAGCTGTCAC	0.542000													30	65					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3224724	3224724	+	Missense_Mutation	SNP	T	T	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr8:3224724T>G	ENST00000602557.1	-	21	3503	c.2948A>C	c.(2947-2949)gAc>gCc	p.D983A	CSMD1_ENST00000539096.1_Missense_Mutation_p.D982A|CSMD1_ENST00000602723.1_Missense_Mutation_p.D983A|CSMD1_ENST00000537824.1_Missense_Mutation_p.D982A|CSMD1_ENST00000542608.1_Missense_Mutation_p.D982A|CSMD1_ENST00000520002.1_Missense_Mutation_p.D983A|CSMD1_ENST00000400186.3_Missense_Mutation_p.D983A			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	983	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)		CAGTAAATAGTCGTGGGAACT	0.522000													5	8					0	0	1	0	0
MDGA2	161357	broad.mit.edu	37	14	47504368	47504368	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr14:47504368C>A	ENST00000426342.1	-	8	1517	c.771G>T	c.(769-771)atG>atT	p.M257I	MDGA2_ENST00000439988.2_Missense_Mutation_p.M486I|MDGA2_ENST00000399232.2_Missense_Mutation_p.M555I|MDGA2_ENST00000357362.3_Missense_Mutation_p.M257I	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	486	Ig-like 3.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						ATCCATCAGGCATTGCAACTT	0.423000													38	163					1.67305e-13	2.24172e-13	1	1	0
UBIAD1	29914	broad.mit.edu	37	1	11333970	11333970	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:11333970C>T	ENST00000376810.5	+	1	708	c.382C>T	c.(382-384)Ccg>Tcg	p.P128S	UBIAD1_ENST00000376804.2_Missense_Mutation_p.P128S	NM_013319.2	NP_037451.1	Q9Y5Z9	UBIA1_HUMAN	UbiA prenyltransferase domain containing 1	128					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)		AATCTTGGAGCCGCAGGATGT	0.542000													22	50					0	0	1	0	0
LAX1	54900	broad.mit.edu	37	1	203743669	203743669	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:203743669C>T	ENST00000442561.2	+	5	1447	c.1057C>T	c.(1057-1059)Cag>Tag	p.Q353*	LAX1_ENST00000367217.5_Nonsense_Mutation_p.Q337*|LAX1_ENST00000367215.1_3'UTR	NM_017773.3	NP_060243.2	Q8IWV1	LAX1_HUMAN	lymphocyte transmembrane adaptor 1	353					B cell activation|immune response|inactivation of MAPK activity|intracellular signal transduction|negative regulation of T cell activation	Golgi apparatus|integral to membrane|plasma membrane	protein kinase binding|SH2 domain binding			central_nervous_system(2)|endometrium(3)|large_intestine(2)|lung(13)|prostate(1)|stomach(1)|urinary_tract(2)	24	all_cancers(21;0.0915)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GCCATTCACACAGAGTGAGGA	0.468000													36	104					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9019279	9019279	+	Silent	SNP	G	G	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:9019279G>C	ENST00000397910.4	-	23	37811	c.37608C>G	c.(37606-37608)ccC>ccG	p.P12536P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12538					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						ACTTACTTGCGGGGCTTGGGA	0.443000													5	23					0	0	1	0	0
SCN3A	6328	broad.mit.edu	37	2	165997285	165997285	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr2:165997285G>T	ENST00000360093.3	-	13	2386	c.1895C>A	c.(1894-1896)tCc>tAc	p.S632Y	SCN3A_ENST00000283254.7_Missense_Mutation_p.S632Y|SCN3A_ENST00000409101.3_Intron	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	632						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	CACCATCCTGGATGACATACT	0.522000													26	53					9.57634e-11	1.21767e-10	1	1	0
NCOR1	9611	broad.mit.edu	37	17	16029514	16029514	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr17:16029514C>A	ENST00000268712.3	-	15	1773	c.1516G>T	c.(1516-1518)Gct>Tct	p.A506S	NCOR1_ENST00000395851.1_Missense_Mutation_p.A506S|NCOR1_ENST00000395848.1_Missense_Mutation_p.A397S	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	506					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)		GAGGGTCGAGCAATTTGCTGC	0.299000													12	33					3.07112e-06	3.47729e-06	1	1	0
ITGAD	3681	broad.mit.edu	37	16	31435893	31435893	+	Missense_Mutation	SNP	T	T	C	rs150458084		TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr16:31435893T>C	ENST00000389202.2	+	29	3416	c.3367T>C	c.(3367-3369)Tac>Cac	p.Y1123H		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	1123					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						AGCCACACTGTACAAGGCAAG	0.483000													19	40					0	0	1	0	0
KIF5A	3798	broad.mit.edu	37	12	57962811	57962811	+	Silent	SNP	A	A	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr12:57962811A>C	ENST00000455537.2	+	9	1054	c.780A>C	c.(778-780)tcA>tcC	p.S260S	KIF5A_ENST00000286452.5_Silent_p.S171S	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	260	Kinesin-motor.|Microtubule-binding.				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						AGTCACTGTCAGCTCTGGGCA	0.567000													6	48					0	0	1	0	0
IGLV3-9	28804	broad.mit.edu	37	22	23162082	23162082	+	RNA	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr22:23162082G>A	ENST00000390316.2	+	0	290																											GCAGAAGCCAGGCCAGGCCCC	0.587000													39	48					0	0	1	0	0
CCDC106	29903	broad.mit.edu	37	19	56160413	56160413	+	Translation_Start_Site	SNP	A	A	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:56160413A>G	ENST00000586790.1	+	1	905	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	CCDC106_ENST00000591241.1_Start_Codon_SNP_p.M1V|CCDC106_ENST00000588740.1_Start_Codon_SNP_p.M1V|CCDC106_ENST00000308964.3_Start_Codon_SNP_p.M1V|CCDC106_ENST00000591578.1_Start_Codon_SNP_p.M1V			Q9BWC9	CC106_HUMAN	coiled-coil domain containing 106	1						nucleus				endometrium(2)|large_intestine(3)|lung(5)|skin(1)	11		Colorectal(82;0.00403)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		AAGCCGCGCCATGAATGACCG	0.657000													43	106					0	0	1	0	0
C2orf53	339779	broad.mit.edu	37	2	27361088	27361088	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr2:27361088G>T	ENST00000335524.3	-	3	635	c.110C>A	c.(109-111)cCt>cAt	p.P37H		NM_178553.3	NP_848648.2	Q53SZ7	CB053_HUMAN	chromosome 2 open reading frame 53	37	Pro-rich.									cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGAGAGAGAGGCTGTAGGTT	0.622000													20	29					8.34094e-07	9.62878e-07	1	1	0
TRAF2	7186	broad.mit.edu	37	9	139794066	139794066	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr9:139794066C>T	ENST00000359662.3	+	3	254	c.209C>T	c.(208-210)gCt>gTt	p.A70V	TRAF2_ENST00000247668.2_Missense_Mutation_p.A70V|TRAF2_ENST00000536468.1_Missense_Mutation_p.A70V			Q12933	TRAF2_HUMAN	TNF receptor-associated factor 2	70					activation of caspase activity|activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cellular protein complex assembly|induction of apoptosis by extracellular signals|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|protein autoubiquitination|protein homotrimerization|protein K63-linked ubiquitination|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane	CD40 receptor binding|enzyme binding|protein binding|signal transducer activity|sphingolipid binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)		CAGAACTGTGCTGCCTGTGTT	0.383000													35	64					0	0	1	0	0
HIVEP2	3097	broad.mit.edu	37	6	143092507	143092507	+	Silent	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr6:143092507C>T	ENST00000367603.2	-	5	4111	c.3369G>A	c.(3367-3369)ccG>ccA	p.P1123P	HIVEP2_ENST00000012134.2_Silent_p.P1123P|HIVEP2_ENST00000367604.1_Silent_p.P1123P	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1123					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)		GCACAGCAGGCGGGCCATGGT	0.667000													9	47					0	0	1	0	0
MMP1	4312	broad.mit.edu	37	11	102667848	102667848	+	Missense_Mutation	SNP	A	A	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:102667848A>C	ENST00000315274.6	-	3	463	c.396T>G	c.(394-396)caT>caG	p.H132Q	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	132	Metalloprotease.				blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)		TCTCAATGGCATGGTCCACAT	0.433000													33	168					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100674949	100674949	+	Silent	SNP	T	T	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr7:100674949T>C	ENST00000306151.4	+	3	316	c.252T>C	c.(250-252)agT>agC	p.S84S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	84	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)					TGTATTTGAGTTGCAGCACCA	0.453000													47	49					0	0	1	0	0
ABCA7	10347	broad.mit.edu	37	19	1052101	1052101	+	Silent	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:1052101C>A	ENST00000263094.6	+	22	3354	c.3123C>A	c.(3121-3123)cgC>cgA	p.R1041R	ABCA7_ENST00000433129.1_Silent_p.R1041R|ABCA7_ENST00000435683.2_Silent_p.R903R	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1041					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi 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)		TGAAGGCCCGCCTGCCCCTGA	0.672000													8	21					0.000157383	0.000170454	1	1	0
SH3KBP1	30011	broad.mit.edu	37	X	19564044	19564044	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:19564044G>T	ENST00000397821.3	-	15	1909	c.1619C>A	c.(1618-1620)tCc>tAc	p.S540Y	SH3KBP1_ENST00000379698.4_Missense_Mutation_p.S503Y|SH3KBP1_ENST00000379716.1_Missense_Mutation_p.S302Y|SH3KBP1_ENST00000541422.1_Missense_Mutation_p.S279Y	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	540					apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						ACTCACTTGGGATATGGTAAC	0.478000													12	39					0.000308642	0.000330131	1	1	0
MRPS18A	55168	broad.mit.edu	37	6	43646287	43646287	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr6:43646287G>A	ENST00000372133.3	-	3	231	c.220C>T	c.(220-222)Cgt>Tgt	p.R74C	MRPS18A_ENST00000372116.1_Missense_Mutation_p.R74C	NM_018135.3	NP_060605.1	Q9NVS2	RT18A_HUMAN	mitochondrial ribosomal protein S18A	74					translation	mitochondrial small ribosomal subunit	structural constituent of ribosome			kidney(3)|large_intestine(1)	4	all_cancers(18;6.56e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000479)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0102)|OV - Ovarian serous cystadenocarcinoma(102;0.137)			AGGTTCCAACGGCAGATGGGG	0.512000													16	41					0	0	1	0	0
LOC645166	645166	broad.mit.edu	37	1	148932888	148932888	+	RNA	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:148932888G>T	ENST00000539543.1	+	0	144					NR_027355.1																						TGAGGTACAGGCTCAGTCTGC	0.637000													8	232					2.80697e-09	3.43296e-09	1	1	0
DMP1	1758	broad.mit.edu	37	4	88583631	88583631	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr4:88583631G>A	ENST00000339673.6	+	6	800	c.701G>A	c.(700-702)aGt>aAt	p.S234N	RP11-742B18.1_ENST00000507894.1_RNA|RP11-742B18.1_ENST00000506480.1_RNA|DMP1_ENST00000282479.7_Missense_Mutation_p.S218N	NM_004407.3	NP_004398.1	Q13316	DMP1_HUMAN	dentin matrix acidic phosphoprotein 1	234					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)		AGAATGAACAGTGCAGGCATG	0.493000													7	38					0	0	1	0	0
CPPED1	55313	broad.mit.edu	37	16	12798485	12798485	+	Silent	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr16:12798485G>A	ENST00000381774.4	-	3	951	c.711C>T	c.(709-711)caC>caT	p.H237H	CPPED1_ENST00000261660.4_Intron|CPPED1_ENST00000433677.2_Intron	NM_018340.2	NP_060810.2	Q9BRF8	CPPED_HUMAN	calcineurin-like phosphoesterase domain containing 1	237							hydrolase activity|metal ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1)	18						CTCTACCTGCGTGGATGAACT	0.542000													24	130					0	0	1	0	0
SH2B2	10603	broad.mit.edu	37	7	101952130	101952130	+	Missense_Mutation	SNP	A	A	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr7:101952130A>C	ENST00000536178.1	+	4	1039	c.994A>C	c.(994-996)Atc>Ctc	p.I332L	SH2B2_ENST00000306803.8_Missense_Mutation_p.I289L			O14492	SH2B2_HUMAN	SH2B adaptor protein 2	289					blood coagulation|insulin receptor signaling pathway|intracellular signal transduction	cytosol|plasma membrane	JAK pathway signal transduction adaptor activity|SH3/SH2 adaptor activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	9						CTTGGAGACCATCGACTCTCT	0.602000													91	115					0	0	1	0	0
B3GNT4	79369	broad.mit.edu	37	12	122691525	122691525	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr12:122691525G>A	ENST00000535274.1	+	1	2379	c.652G>A	c.(652-654)Gtg>Atg	p.V218M	B3GNT4_ENST00000546192.1_Missense_Mutation_p.V218M|B3GNT4_ENST00000545141.1_Intron|B3GNT4_ENST00000324189.4_Missense_Mutation_p.V243M			Q9C0J1	B3GN4_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4	243					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000297)|Epithelial(86;0.000497)|BRCA - Breast invasive adenocarcinoma(302;0.222)		GGACCTCCTGGTGGGAGATGT	0.562000													8	71					0	0	1	0	0
CDX2	1045	broad.mit.edu	37	13	28537263	28537263	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr13:28537263C>T	ENST00000381020.7	-	3	3063	c.931G>A	c.(931-933)Gtc>Atc	p.V311I	CDX2_ENST00000548877.1_5'UTR	NM_001265.4	NP_001256.3	Q99626	CDX2_HUMAN	caudal type homeobox 2	311					organ morphogenesis|transcription from RNA polymerase II promoter		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(1)|lung(6)	9	all_cancers(110;0.191)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155)	Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0407)|all cancers(112;0.0491)|OV - Ovarian serous cystadenocarcinoma(117;0.199)		CACTGGGTGACGGTGGGGTTT	0.642000			T	ETV6	AML								4	47					0	0	1	0	0
LSS	4047	broad.mit.edu	37	21	47635212	47635212	+	Splice_Site	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr21:47635212G>A	ENST00000397728.3	-	9	971	c.892_splice	c.e9-1	p.A298_splice	LSS_ENST00000457828.2_Splice_Site_p.A218_splice|LSS_ENST00000356396.4_Splice_Site_p.A298_splice|LSS_ENST00000522411.1_Splice_Site_p.A287_splice	NM_001145436.1|NM_002340.5	NP_001138908.1|NP_002331.3	P48449	ERG7_HUMAN	lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)	298					cholesterol biosynthetic process	endoplasmic reticulum membrane	lanosterol synthase activity			cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21	Breast(49;0.214)					GTTGAGGAGCGCTACAGGGGA	0.607000													3	23					0	0	1	0	0
MYOM1	8736	broad.mit.edu	37	18	3116340	3116340	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr18:3116340C>A	ENST00000400569.3	-	21	3625	c.3292G>T	c.(3292-3294)Gta>Tta	p.V1098L	MYOM1_ENST00000356443.4_Missense_Mutation_p.V1098L|MYOM1_ENST00000261606.7_Missense_Mutation_p.V1002L			P52179	MYOM1_HUMAN	myomesin 1	1098	Fibronectin type-III 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						TTCAGGTATACGTTTTTAATA	0.478000													4	17					1	1	1	1	0
RALGAPB	57148	broad.mit.edu	37	20	37153516	37153516	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr20:37153516G>T	ENST00000262879.6	+	11	1999	c.1715G>T	c.(1714-1716)tGc>tTc	p.C572F	RALGAPB_ENST00000397038.1_Missense_Mutation_p.C350F|RALGAPB_ENST00000397040.1_Missense_Mutation_p.C572F|RALGAPB_ENST00000397042.3_Missense_Mutation_p.C572F			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	572					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						CCTTTGTTCTGCTGTGACTTG	0.383000													54	91					2.47907e-22	3.72691e-22	1	1	0
KCNV2	169522	broad.mit.edu	37	9	2718610	2718610	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr9:2718610C>A	ENST00000382082.3	+	1	1109	c.871C>A	c.(871-873)Cag>Aag	p.Q291K		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	291						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		GCACTCGGGGCAGGGCGAGGG	0.687000													10	34					0.00829132	0.008594	1	1	0
UBQLN3	50613	broad.mit.edu	37	11	5529023	5529023	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:5529023C>A	ENST00000311659.4	-	2	1913	c.1766G>T	c.(1765-1767)gGc>gTc	p.G589V	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	589										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)		GGAAAGGAAGCCCAGCTCTGC	0.527000													22	66					1.22574e-08	1.47496e-08	1	1	0
ZBTB7C	201501	broad.mit.edu	37	18	45555913	45555913	+	Silent	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr18:45555913C>A	ENST00000588982.1	-	4	2079	c.1578G>T	c.(1576-1578)ccG>ccT	p.P526P	ZBTB7C_ENST00000535628.2_Silent_p.P526P|ZBTB7C_ENST00000332053.2_Silent_p.P526P|ZBTB7C_ENST00000590800.1_Silent_p.P526P|ZBTB7C_ENST00000586438.1_Silent_p.P526P			A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	526						intracellular	nucleic acid binding|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						GGCTGGGGCCCGGGAGGCACA	0.736000													3	15					1	1	1	1	0
SH2D4B	387694	broad.mit.edu	37	10	82363435	82363435	+	Silent	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr10:82363435G>A	ENST00000339284.2	+	5	1174	c.744G>A	c.(742-744)acG>acA	p.T248T	SH2D4B_ENST00000470604.2_Silent_p.T247T|SH2D4B_ENST00000313455.4_Silent_p.T199T	NM_207372.2	NP_997255.2	Q5SQS7	SH24B_HUMAN	SH2 domain containing 4B	247										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)	13			Colorectal(32;0.229)			AGAAGGGCACGGTCGCTGGCC	0.692000													12	31					0	0	1	0	0
TECRL	253017	broad.mit.edu	37	4	65147235	65147235	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr4:65147235G>T	ENST00000381210.3	-	10	985	c.875C>A	c.(874-876)aCa>aAa	p.T292K	TECRL_ENST00000507440.1_Missense_Mutation_p.T292K	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	292					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						AAACATCCATGTGAAGGGGTT	0.338000													19	50					0.000175454	0.000189843	1	1	0
TRIM15	89870	broad.mit.edu	37	6	30139658	30139658	+	Silent	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr6:30139658G>A	ENST00000376694.4	+	7	1399	c.930G>A	c.(928-930)tcG>tcA	p.S310S	TRIM15_ENST00000376688.1_Intron	NM_033229.2	NP_150232.2	Q9C019	TRI15_HUMAN	tripartite motif containing 15	310	B30.2/SPRY.				mesodermal cell fate determination	intracellular	zinc ion binding			large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						TGGTTCTCTCGGAAGACAGGA	0.647000													3	7					0	0	1	0	0
ATP8B5P	158381	broad.mit.edu	37	9	35449713	35449713	+	RNA	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr9:35449713G>T	ENST00000430846.1	+	0	2563																											ACAGAAAATTGTGGAGGTTTT	0.413000													3	19					6.4e-05	6.99725e-05	1	1	0
SEC1P	653677	broad.mit.edu	37	19	49184013	49184013	+	RNA	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:49184013C>A	ENST00000430145.2	+	0	1100					NR_004401.2																						TGGCCTGGTGCCGGGAGAGCA	0.662000													4	14					0.00024832	0.000267138	1	1	0
KCNH2	3757	broad.mit.edu	37	7	150643983	150643983	+	Silent	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr7:150643983G>T	ENST00000392968.2	-	12	4144	c.3024C>A	c.(3022-3024)acC>acA	p.T1008T	KCNH2_ENST00000262186.5_Silent_p.T1104T|KCNH2_ENST00000330883.4_Silent_p.T764T			Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	1104					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)	GCGAGTCCAAGGTGAGGGTGG	0.642000													12	92					6.31663e-08	7.5123e-08	1	1	0
FOCAD	54914	broad.mit.edu	37	9	20948342	20948342	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr9:20948342G>T	ENST00000380249.1	+	33	4112	c.3748G>T	c.(3748-3750)Gac>Tac	p.D1250Y	FOCAD_ENST00000605086.1_Missense_Mutation_p.D686Y|FOCAD_ENST00000338382.6_Missense_Mutation_p.D1250Y	NM_017794.3	NP_060264.3	Q5VW36	K1797_HUMAN	focadhesin	1250						integral to membrane	binding										AAAAGCTGAAGACTTGGGCAG	0.383000													14	33					2.31682e-05	2.55992e-05	1	1	0
TRIM9	114088	broad.mit.edu	37	14	51489588	51489588	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr14:51489588C>A	ENST00000298355.3	-	3	2127	c.1006G>T	c.(1006-1008)Gcc>Tcc	p.A336S	TRIM9_ENST00000360392.4_Missense_Mutation_p.A336S|TRIM9_ENST00000338969.5_Missense_Mutation_p.A336S	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN	tripartite motif containing 9	336					proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					TTGACGCGGGCCAGCAGCTGG	0.557000													34	172					1.06647e-15	1.49133e-15	1	1	0
RYR1	6261	broad.mit.edu	37	19	39034012	39034012	+	Silent	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:39034012G>A	ENST00000355481.4	+	84	11831	c.11700G>A	c.(11698-11700)caG>caA	p.Q3900Q	RYR1_ENST00000360985.3_Silent_p.Q3900Q|RYR1_ENST00000359596.3_Silent_p.Q3905Q	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3905					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|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)	TACGGACACAGACAGGGAACA	0.498000													41	112					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9047895	9047895	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:9047895C>A	ENST00000397910.4	-	5	33939	c.33736G>T	c.(33736-33738)Gca>Tca	p.A11246S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11248	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						ACAGAACTTGCTTCTGTCCCA	0.483000													7	19					2.7689e-08	3.31942e-08	1	1	0
F7	2155	broad.mit.edu	37	13	113771897	113771897	+	Silent	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr13:113771897G>T	ENST00000375581.3	+	8	827	c.792G>T	c.(790-792)ctG>ctT	p.L264L	F7_ENST00000541084.1_Silent_p.L195L|F7_ENST00000346342.3_Silent_p.L242L	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	coagulation factor VII (serum prothrombin conversion accelerator)	264	Peptidase S1.		L -> P (in FA7D).		anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity			large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	GGAGGAACCTGATCGCGGTGC	0.627000													23	237					4.7796e-09	5.81065e-09	1	1	0
TNN	63923	broad.mit.edu	37	1	175048541	175048541	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:175048541G>T	ENST00000239462.4	+	3	595	c.482G>T	c.(481-483)aGg>aTg	p.R161M		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	161					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)		GAAGAGGGCAGGGAGGGCCCC	0.701000													8	19					7.48243e-07	8.66895e-07	1	1	0
LRIT1	26103	broad.mit.edu	37	10	85993875	85993875	+	Silent	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr10:85993875G>T	ENST00000372105.3	-	3	870	c.849C>A	c.(847-849)ccC>ccA	p.P283P		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	283	Ig-like C2-type.					integral to endoplasmic reticulum membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						AGCTCATCTCGGGCCCAGGGA	0.607000													21	49					2.37509e-13	3.1805e-13	1	1	0
SLAMF9	89886	broad.mit.edu	37	1	159922172	159922172	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:159922172C>A	ENST00000368093.3	-	3	660	c.544G>T	c.(544-546)Ggc>Tgc	p.G182C	SLAMF9_ENST00000466773.1_5'UTR|SLAMF9_ENST00000368092.3_Intron	NM_033438.3	NP_254273.2	Q96A28	SLAF9_HUMAN	SLAM family member 9	182	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)			AGGACAGGGCCTTCATGGAAT	0.587000													33	196					2.08457e-15	2.90415e-15	1	1	0
BCHE	590	broad.mit.edu	37	3	165547575	165547575	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr3:165547575G>T	ENST00000264381.3	-	2	1413	c.1247C>A	c.(1246-1248)gCc>gAc	p.A416D	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	416					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	ATCACCCAAGGCCTCACGGTA	0.398000													25	71					4.59853e-10	5.75907e-10	1	1	0
NUP214	8021	broad.mit.edu	37	9	134103669	134103669	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr9:134103669G>A	ENST00000359428.5	+	33	6169	c.6025G>A	c.(6025-6027)Ggc>Agc	p.G2009S	NUP214_ENST00000411637.2_Missense_Mutation_p.G1999S|NUP214_ENST00000451030.1_Missense_Mutation_p.G2010S|NUP214_ENST00000483497.2_Missense_Mutation_p.G835S			P35658	NU214_HUMAN	nucleoporin 214kDa	2009	11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		CTCGACGGGAGGCAAAGTGTT	0.632000			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""								9	63					0	0	1	0	0
RFWD2	64326	broad.mit.edu	37	1	176012383	176012383	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:176012383C>A	ENST00000367669.3	-	14	2065	c.1551G>T	c.(1549-1551)tgG>tgT	p.W517C	RFWD2_ENST00000308769.8_Missense_Mutation_p.W493C	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase	517					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						AGTCAACACTCCAACACCTCT	0.393000													30	154					2.70662e-09	3.32473e-09	1	1	0
ST3GAL1	6482	broad.mit.edu	37	8	134474238	134474238	+	Splice_Site	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr8:134474238C>A	ENST00000319914.5	-	8	1757		c.e8-1		ST3GAL1_ENST00000399640.2_Splice_Site|ST3GAL1_ENST00000522652.1_Splice_Site|ST3GAL1_ENST00000521180.1_Splice_Site			Q11201	SIA4A_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 1						protein glycosylation	extracellular region|Golgi cisterna membrane|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)			AGATCAGGATCTGCGGGGATG	0.562000													22	83					2.27731e-05	2.51998e-05	1	1	0
IGSF10	285313	broad.mit.edu	37	3	151154764	151154764	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr3:151154764G>A	ENST00000282466.3	-	6	7584	c.7585C>T	c.(7585-7587)Cga>Tga	p.R2529*	MED12L_ENST00000474524.1_3'UTR|IGSF10_ENST00000495443.1_5'UTR	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	2529	Ig-like C2-type 12.				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)			TTTGTAATTCGGGGAGGGTAG	0.473000													21	110					0	0	1	0	0
HSF1	3297	broad.mit.edu	37	8	145535024	145535024	+	Silent	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr8:145535024C>A	ENST00000528838.1	+	6	742	c.582C>A	c.(580-582)atC>atA	p.I194I	HSF1_ENST00000400780.4_Silent_p.I129I	NM_005526.2	NP_005517.1	Q00613	HSF1_HUMAN	heat shock transcription factor 1	194	Hydrophobic repeat HR-A/B.					cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	p.I194M(1)		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)			AGTTCCTGATCTCACTGGTGC	0.632000													9	83					0.0581538	0.0590221	1	1	0
KDM5C	8242	broad.mit.edu	37	X	53243952	53243952	+	Silent	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:53243952G>A	ENST00000452825.3	-	6	1372	c.840C>T	c.(838-840)gaC>gaT	p.D280D	KDM5C_ENST00000375379.3_Silent_p.D347D|KDM5C_ENST00000375383.3_Silent_p.D306D|KDM5C_ENST00000404049.3_Silent_p.D346D|KDM5C_ENST00000375401.3_Silent_p.D347D	NM_001146702.1	NP_001140174.1	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	347					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						TGTGGTAGTTGTCATCACAGC	0.562000			"""N, F, S"""		clear cell renal carcinoma								6	29					0	0	1	0	0
PSEN2	5664	broad.mit.edu	37	1	227071592	227071592	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:227071592C>T	ENST00000366782.1	+	5	927	c.427C>T	c.(427-429)Cgc>Tgc	p.R143C	PSEN2_ENST00000422240.2_Missense_Mutation_p.R110C|PSEN2_ENST00000391872.2_Missense_Mutation_p.R143C|PSEN2_ENST00000340188.4_Missense_Mutation_p.R110C|PSEN2_ENST00000366783.3_Missense_Mutation_p.R110C			P49810	PSN2_HUMAN	presenilin 2 (Alzheimer disease 4)	110					amyloid precursor protein catabolic process|anti-apoptosis|apoptosis|beta-amyloid metabolic process|calcium ion transport|induction of apoptosis by extracellular signals|intracellular signal transduction|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity	apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear inner membrane|perinuclear region of cytoplasm|Z disc	aspartic-type endopeptidase activity|protein binding			cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|urinary_tract(1)	20		Prostate(94;0.0771)				CAAGTCTGTGCGCTTCTACAC	0.602000													4	189					0	0	1	0	0
ATP6V1F	9296	broad.mit.edu	37	7	128503116	128503116	+	Splice_Site	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr7:128503116G>T	ENST00000492758.1	+	1	159	c.158_splice	c.e1+1	p.R53_splice	ATP6V1F_ENST00000249289.4_Splice_Site_p.R53_splice	NM_001198909.1	NP_001185838.1	Q16864	VATF_HUMAN	ATPase, H+ transporting, lysosomal 14kDa, V1 subunit F	53					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|membrane fraction|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATPase activity, uncoupled|hydrogen ion transporting ATP synthase activity, rotational mechanism|protein binding|proton-transporting ATPase activity, rotational mechanism			lung(1)|ovary(1)|prostate(1)	3						GACACTTTCCGGTACGGTACC	0.617000											OREG0018299	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	37	61					1.60099e-16	2.26992e-16	1	1	0
EPHX1	2052	broad.mit.edu	37	1	226027005	226027005	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:226027005G>T	ENST00000366837.4	+	5	876	c.680G>T	c.(679-681)tGg>tTg	p.W227L	EPHX1_ENST00000272167.5_Missense_Mutation_p.W227L	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	227					aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					GGAGGGGACTGGGGGTCCCTG	0.572000													40	93					6.2361e-21	9.28174e-21	1	1	0
CTSS	1520	broad.mit.edu	37	1	150727551	150727551	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:150727551A>G	ENST00000368985.3	-	4	585	c.325T>C	c.(325-327)Tca>Cca	p.S109P	CTSS_ENST00000480760.1_5'UTR|CTSS_ENST00000448301.2_Intron	NM_001199739.1|NM_004079.4	NP_001186668.1|NP_004070.3	P25774	CATS_HUMAN	cathepsin S	109					immune response|proteolysis	extracellular region|lysosome	cysteine-type endopeptidase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	15	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|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;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)			TTAGGGTTTGACTTATATGTG	0.433000													6	196					0	0	1	0	0
WDR44	54521	broad.mit.edu	37	X	117538407	117538407	+	Splice_Site	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:117538407G>T	ENST00000254029.3	+	9	1776	c.1381_splice	c.e9+1	p.V461_splice	WDR44_ENST00000371822.5_Splice_Site_p.V436_splice|WDR44_ENST00000371825.3_Splice_Site_p.V461_splice	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44	461						cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm				breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						TAGAGATGAAGGTGAGTTAAA	0.299000													4	28					0.00909568	0.00937143	1	1	0
SRGAP1	57522	broad.mit.edu	37	12	64509625	64509625	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr12:64509625G>T	ENST00000355086.3	+	18	2700	c.2176G>T	c.(2176-2178)Gag>Tag	p.E726*	RP11-196H14.4_ENST00000535806.1_RNA|SRGAP1_ENST00000357825.3_Nonsense_Mutation_p.E703*|SRGAP1_ENST00000543397.1_Nonsense_Mutation_p.E663*	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	726					axon guidance	cytosol				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		CGGTACATTGGAGGAAGTGGA	0.398000													11	13					1.61879e-10	2.04676e-10	1	1	0
NKX2-2	4821	broad.mit.edu	37	20	21492653	21492653	+	Missense_Mutation	SNP	G	G	A	rs145819196		TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr20:21492653G>A	ENST00000377142.4	-	2	1086	c.730C>T	c.(730-732)Cac>Tac	p.H244Y	NKX2-2-AS1_ENST00000549659.1_RNA	NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN	NK2 homeobox 2	244					brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						TACTGCATGTGCTGCAGCGAC	0.662000													50	38					0	0	1	0	0
APOA4	337	broad.mit.edu	37	11	116692268	116692268	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:116692268C>A	ENST00000357780.3	-	3	620	c.506G>T	c.(505-507)cGg>cTg	p.R169L		NM_000482.3	NP_000473.2			apolipoprotein A-IV									p.R169L(1)		cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		GGCGTTCTCCCGCAGCACTCT	0.687000													36	111					2.48696e-23	3.76654e-23	1	1	0
RALGAPA2	57186	broad.mit.edu	37	20	20486180	20486180	+	Splice_Site	SNP	T	T	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr20:20486180T>A	ENST00000202677.6	-	34	5071		c.e34-2			NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)						activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						GTCTCACGGCTATAAATTTTT	0.338000													3	7					0	0	1	0	0
OR4C11	219429	broad.mit.edu	37	11	55371492	55371492	+	Missense_Mutation	SNP	G	G	A	rs139149255	byFrequency	TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:55371492G>A	ENST00000302231.4	-	1	382	c.358C>T	c.(358-360)Cgc>Tgc	p.R120C		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R120C(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						GCCACATAGCGATCAACAGCC	0.433000													23	62					0	0	1	0	0
RAI2	10742	broad.mit.edu	37	X	17819691	17819691	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:17819691G>T	ENST00000545871.1	-	3	900	c.440C>A	c.(439-441)tCc>tAc	p.S147Y	RAI2_ENST00000360011.1_Missense_Mutation_p.S147Y|RAI2_ENST00000415486.3_Missense_Mutation_p.S97Y|RAI2_ENST00000451717.1_Missense_Mutation_p.S147Y|RAI2_ENST00000331511.1_Missense_Mutation_p.S147Y	NM_001172739.1|NM_001172743.1	NP_001166210.1|NP_001166214.1	Q9Y5P3	RAI2_HUMAN	retinoic acid induced 2	147					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)					GGTACTGGAGGAGCATGGGGC	0.672000													16	109					1.33834e-09	1.65576e-09	1	1	0
TF	7018	broad.mit.edu	37	3	133485249	133485249	+	Silent	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr3:133485249C>A	ENST00000402696.3	+	12	1943	c.1458C>A	c.(1456-1458)ctC>ctA	p.L486L	TF_ENST00000264998.3_Silent_p.L359L	NM_001063.3	NP_001054.1	P02787	TRFE_HUMAN	transferrin	486	Transferrin-like 2.				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)	TGGGCCTGCTCTACAATAAGA	0.537000													64	146					9.40535e-28	1.45591e-27	1	1	0
BCORL1	63035	broad.mit.edu	37	X	129149755	129149755	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:129149755C>A	ENST00000540052.1	+	3	3051	c.3007C>A	c.(3007-3009)Ctg>Atg	p.L1003M	BCORL1_ENST00000303743.5_Missense_Mutation_p.L1003M|BCORL1_ENST00000359304.2_Missense_Mutation_p.L1003M|BCORL1_ENST00000218147.7_Missense_Mutation_p.L1003M	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1003					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						CCCCCAGAACCTGCCTAAGAT	0.597000													38	101					5.73237e-09	6.94635e-09	1	1	0
PROM2	150696	broad.mit.edu	37	2	95941728	95941728	+	Silent	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr2:95941728C>T	ENST00000317620.9	+	3	478	c.345C>T	c.(343-345)ctC>ctT	p.L115L	PROM2_ENST00000403131.2_Silent_p.L115L|PROM2_ENST00000463580.1_Intron|PROM2_ENST00000542147.1_Silent_p.L115L|PROM2_ENST00000317668.4_Silent_p.L115L	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	115						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						TCGCGGGCCTCTACCTGCTGC	0.697000													11	21					0	0	1	0	0
CLEC9A	283420	broad.mit.edu	37	12	10215689	10215689	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr12:10215689C>A	ENST00000355819.1	+	7	968	c.355C>A	c.(355-357)Cag>Aag	p.Q119K		NM_207345.2	NP_997228.1	Q6UXN8	CLC9A_HUMAN	C-type lectin domain family 9, member A	119					positive regulation of cytokine secretion|receptor-mediated endocytosis	cell surface|integral to membrane	receptor activity|sugar binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	22						CAATTGGATTCAGAACAGAGA	0.343000													26	79					7.68411e-24	1.16851e-23	1	1	0
PAPPA2	60676	broad.mit.edu	37	1	176738906	176738906	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:176738906C>A	ENST00000367662.3	+	16	5651	c.4487C>A	c.(4486-4488)cCa>cAa	p.P1496Q		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1496	Sushi 2.				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						TGTGTCCCACCAGCCAAGCTG	0.512000													35	161					6.29468e-14	8.5311e-14	1	1	0
PHRF1	57661	broad.mit.edu	37	11	609112	609112	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:609112G>A	ENST00000264555.5	+	14	3784	c.3656G>A	c.(3655-3657)aGg>aAg	p.R1219K	PHRF1_ENST00000533464.1_Missense_Mutation_p.R1215K|PHRF1_ENST00000413872.2_Missense_Mutation_p.R1217K|PHRF1_ENST00000416188.2_Missense_Mutation_p.R1218K	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	1219							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						CTCCCCACCAGGTTGCCAGCC	0.692000													11	18					0	0	1	0	0
ZNF280A	129025	broad.mit.edu	37	22	22869652	22869652	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr22:22869652C>T	ENST00000302097.3	-	2	555	c.303G>A	c.(301-303)atG>atA	p.M101I		NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	101					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.M101I(1)		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)		GAGAAACGGGCATGATGGCTT	0.473000													12	161					0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10934047	10934047	+	Silent	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr21:10934047G>A	ENST00000298232.7	-	15	1243	c.876C>T	c.(874-876)ccC>ccT	p.P292P	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Silent_p.P310P|TPTE_ENST00000342420.5_Silent_p.P272P	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	310	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ACTGTAGAGTGGGGACATTAT	0.299000													20	120					0	0	1	0	0
PSMD11	5717	broad.mit.edu	37	17	30807770	30807770	+	Splice_Site	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr17:30807770G>T	ENST00000261712.3	+	14	1532		c.e14-1		PSMD11_ENST00000457654.2_3'UTR	NM_001270482.1|NM_002815.3	NP_001257411.1|NP_002806.2	O00231	PSD11_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 11						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|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|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|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.109)			TTCTCTTGCAGAGTTGGATCT	0.502000													4	5					0.00024832	0.000267138	1	1	0
GPKOW	27238	broad.mit.edu	37	X	48972243	48972243	+	Splice_Site	SNP	A	A	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:48972243A>T	ENST00000156109.5	-	8	1219		c.e8+1			NM_015698.4	NP_056513.2	Q92917	GPKOW_HUMAN	G patch domain and KOW motifs							nucleus	nucleic acid binding			breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)	21						CAGGGTTCCCACCTTGGTGTT	0.557000													4	31					0	0	1	0	0
CEACAM4	1089	broad.mit.edu	37	19	42125995	42125995	+	Silent	SNP	G	G	A	rs1126455		TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:42125995G>A	ENST00000600925.1	-	6	821	c.711C>T	c.(709-711)ccC>ccT	p.P237P	CEACAM4_ENST00000221954.2_Intron			O75871	CEAM4_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 4	0						integral to plasma membrane|membrane fraction				NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1)	16						GGCAGATCCTGGGTCCCCTGG	0.617000													3	13					0	0	1	0	0
MCOLN2	255231	broad.mit.edu	37	1	85403456	85403456	+	Silent	SNP	T	T	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:85403456T>C	ENST00000370608.3	-	11	1384	c.1317A>G	c.(1315-1317)ttA>ttG	p.L439L	MCOLN2_ENST00000531325.1_5'UTR|MCOLN2_ENST00000284027.5_Silent_p.L411L	NM_153259.2	NP_694991.2	Q8IZK6	MCLN2_HUMAN	mucolipin 2	439						integral to membrane	ion channel activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	18				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)		GGTATGGTCCTAAGACAATCC	0.468000													12	60					0	0	1	0	0
RASL10B	91608	broad.mit.edu	37	17	34068119	34068119	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr17:34068119G>A	ENST00000268864.3	+	4	784	c.407G>A	c.(406-408)cGc>cAc	p.R136H		NM_033315.3	NP_201572.1	Q96S79	RSLAB_HUMAN	RAS-like, family 10, member B	136	Small GTPase-like.				small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			breast(2)|endometrium(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CAGCGCGGACGCGTGATCCCG	0.622000													9	66					0	0	1	0	0
LOC643733	643733	broad.mit.edu	37	11	104774272	104774272	+	RNA	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:104774272G>A	ENST00000532510.1	-	0	3264																											TCAAATGCTTGCTGAACCTGA	0.423000													9	18					0	0	1	0	0
MYLK	4638	broad.mit.edu	37	3	123359146	123359146	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr3:123359146C>A	ENST00000360772.3	-	29	5203	c.4825G>T	c.(4825-4827)Gcc>Tcc	p.A1609S	MYLK_ENST00000359169.1_Missense_Mutation_p.A1609S|MYLK-AS1_ENST00000485162.1_RNA|MYLK_ENST00000475616.1_Missense_Mutation_p.A1609S|MYLK_ENST00000360304.3_Missense_Mutation_p.A1609S|MYLK_ENST00000346322.5_Missense_Mutation_p.A1540S|MYLK_ENST00000354792.5_Missense_Mutation_p.A409S			Q15746	MYLK_HUMAN	myosin light chain kinase	1609	Protein kinase.			A -> P (in Ref. 1; CAA59685).	aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP 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)		AGCCTCCTGGCCAGACCAAAG	0.547000													23	68					2.39556e-15	3.32503e-15	1	1	0
CDK18	5129	broad.mit.edu	37	1	205495240	205495240	+	Silent	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:205495240C>T	ENST00000360066.2	+	6	805	c.504C>T	c.(502-504)aaC>aaT	p.N168N	CDK18_ENST00000506784.1_Silent_p.N198N|CDK18_ENST00000429964.2_Silent_p.N168N|CDK18_ENST00000509056.1_3'UTR	NM_002596.3|NM_212502.2|NM_212503.2	NP_002587.2|NP_997667.1|NP_997668.1	Q07002	CDK18_HUMAN	cyclin-dependent kinase 18	166	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						TGACGGAGAACCTTGTGGCCC	0.647000													11	31					0	0	1	0	0
ACTN2	88	broad.mit.edu	37	1	236850094	236850094	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:236850094A>G	ENST00000366578.4	+	1	287	c.121A>G	c.(121-123)Agg>Ggg	p.R41G	ACTN2_ENST00000542672.1_Missense_Mutation_p.R41G|ACTN2_ENST00000492634.1_3'UTR	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	41	Actin-binding.|CH 1.				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP 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)			GAAGCAGCAGAGGAAGGTCAG	0.711000													6	21					0	0	1	0	0
DDX39B	7919	broad.mit.edu	37	6	31498831	31498831	+	Splice_Site	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr6:31498831C>T	ENST00000417556.2	-	10	1796	c.1167_splice	c.e10+1	p.R389_splice	DDX39B_ENST00000396172.1_Splice_Site_p.R374_splice|DDX39B_ENST00000458640.1_Splice_Site_p.R374_splice|DDX39B_ENST00000376177.2_Splice_Site_p.R374_splice|ATP6V1G2-DDX39B_ENST00000376185.1_3'UTR|DDX39B_ENST00000415382.2_Splice_Site_p.R296_splice			Q13838	DX39B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B	374	Helicase C-terminal.				intronless viral mRNA export from host nucleus|RNA secondary structure unwinding|spliceosome assembly	nuclear speck|spliceosomal complex|transcription export complex	ATP binding|ATP-dependent protein binding|ATP-dependent RNA helicase activity|identical protein binding|U4 snRNA binding|U6 snRNA binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						GAGGTTTACCCGATGCAGGTA	0.478000													4	45					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77618582	77618582	+	Silent	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr8:77618582C>T	ENST00000521891.2	+	2	2707	c.2259C>T	c.(2257-2259)tgC>tgT	p.C753C	ZFHX4_ENST00000050961.6_Silent_p.C753C|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Silent_p.C753C|ZFHX4_ENST00000518282.1_Silent_p.C753C	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	753						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)			TCAGTGGCTGCGGAACACCCT	0.527000										HNSCC(33;0.089)			3	27					0	0	1	0	0
PLCH2	9651	broad.mit.edu	37	1	2430189	2430189	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:2430189G>T	ENST00000449969.1	+	18	2436	c.2275G>T	c.(2275-2277)Gac>Tac	p.D759Y	PLCH2_ENST00000419816.2_Missense_Mutation_p.D786Y|PLCH2_ENST00000378486.3_Missense_Mutation_p.D786Y|PLCH2_ENST00000288766.5_Missense_Mutation_p.D74Y|PLCH2_ENST00000378488.3_Missense_Mutation_p.D750Y|PLCH2_ENST00000378483.2_3'UTR			O75038	PLCH2_HUMAN	phospholipase C, eta 2	786	C2.				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		CCAGATCATCGACCCCTTTGT	0.697000													12	19					1.49906e-05	1.66537e-05	1	1	0
RIC3	79608	broad.mit.edu	37	11	8159832	8159832	+	Silent	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:8159832G>T	ENST00000343202.4	-	3	479	c.414C>A	c.(412-414)acC>acA	p.T138T	RIC3_ENST00000425599.2_Silent_p.T138T|RIC3_ENST00000309737.6_Silent_p.T138T|RIC3_ENST00000335425.7_Intron|RIC3_ENST00000530060.1_5'UTR|RIC3_ENST00000539720.1_Silent_p.T89T	NM_001206671.2|NM_024557.4	NP_001193600.1|NP_078833.3	Q7Z5B4	RIC3_HUMAN	RIC3 acetylcholine receptor chaperone	138						endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		TTTTCCTGTGGGTGTTTCCAG	0.433000													43	221					3.4345e-17	4.913e-17	1	1	0
SUN1	23353	broad.mit.edu	37	7	881655	881655	+	Silent	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr7:881655C>A	ENST00000456758.2	+	6	513	c.513C>A	c.(511-513)tcC>tcA	p.S171S	SUN1_ENST00000401592.1_Silent_p.S113S|SUN1_ENST00000457378.2_Silent_p.S134S|SUN1_ENST00000425407.2_Silent_p.S63S|SUN1_ENST00000405266.1_Silent_p.S113S|SUN1_ENST00000452783.2_Silent_p.S113S|SUN1_ENST00000469755.1_3'UTR|SUN1_ENST00000389574.3_Silent_p.S63S|SUN1_ENST00000403868.1_Silent_p.S113S			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	113					cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AGGTCACGTCCTCTGGCGTCA	0.498000													26	25					7.38237e-10	9.18904e-10	1	1	0
MPP2	4355	broad.mit.edu	37	17	41957260	41957260	+	Missense_Mutation	SNP	G	G	A	rs149328604	by1000genomes	TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr17:41957260G>A	ENST00000269095.4	-	11	1547	c.1243C>T	c.(1243-1245)Cgc>Tgc	p.R415C	MPP2_ENST00000518766.1_Missense_Mutation_p.R460C|MPP2_ENST00000520305.1_Missense_Mutation_p.R276C|MPP2_ENST00000377184.3_Missense_Mutation_p.R432C|MPP2_ENST00000461854.1_Missense_Mutation_p.R439C|MPP2_ENST00000536246.1_Missense_Mutation_p.R404C|MPP2_ENST00000523501.1_Missense_Mutation_p.R404C	NM_001278370.1|NM_001278381.1|NM_005374.3	NP_001265299.1|NP_001265310.1|NP_005365.3	Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	439	Guanylate kinase-like.				signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		TCCAGGTAGCGCCCAGCACGG	0.627000											OREG0024443	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	90					0	0	1	0	0
ARX	170302	broad.mit.edu	37	X	25028386	25028386	+	Silent	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:25028386G>T	ENST00000379044.4	-	3	1320	c.1110C>A	c.(1108-1110)gcC>gcA	p.A370A		NM_139058.2	NP_620689.1	Q96QS3	ARX_HUMAN	aristaless related homeobox	370						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(2)|lung(1)	4						CCTGGACTCGGGCCTCGGTCA	0.627000													9	22					0.000442599	0.00047184	1	1	0
TNKS1BP1	85456	broad.mit.edu	37	11	57076593	57076593	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:57076593G>T	ENST00000532437.1	-	5	3903	c.3592C>A	c.(3592-3594)Ctg>Atg	p.L1198M	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.L1198M			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1198	Acidic.|Gly-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)				CTCAAGCTCAGGCCACCTGAC	0.602000													25	209					5.61819e-17	8.01628e-17	1	1	0
CFAP54	144535	broad.mit.edu	37	12	97051859	97051859	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr12:97051859C>A	ENST00000524981.3	+	4	653	c.653C>A	c.(652-654)gCc>gAc	p.A218D				Q6ZTY8	CL063_HUMAN		192										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						GTATCTCTTGCCATTCAGTTC	0.313000													19	65					8.00594e-06	8.98315e-06	1	1	0
ERRFI1	54206	broad.mit.edu	37	1	8074322	8074322	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:8074322A>G	ENST00000377482.5	-	4	560	c.337T>C	c.(337-339)Tgt>Cgt	p.C113R	ERRFI1_ENST00000469499.1_3'UTR|ERRFI1_ENST00000474874.1_Intron|ERRFI1_ENST00000467067.1_3'UTR	NM_018948.3	NP_061821.1	Q9UJM3	ERRFI_HUMAN	ERBB receptor feedback inhibitor 1	113					lung alveolus development|lung epithelium development|lung vasculature development|negative regulation of epidermal growth factor receptor activity|negative regulation of protein autophosphorylation|regulation of keratinocyte differentiation|response to stress|skin morphogenesis	cytoplasm|extrinsic to internal side of plasma membrane|nucleus	protein kinase binding|Rho GTPase activator activity			breast(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(3)|ovary(1)|prostate(1)|skin(2)	16	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		TTAAAACCACATACAACTTGA	0.478000													34	152					0	0	1	0	0
ATPAF1	64756	broad.mit.edu	37	1	47124383	47124383	+	Silent	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:47124383C>T	ENST00000576409.1	-	3	533	c.471G>A	c.(469-471)gtG>gtA	p.V157V	ATPAF1_ENST00000532925.1_Silent_p.V46V|ATPAF1_ENST00000329231.4_Silent_p.V157V|EFCAB14_ENST00000544071.1_Silent_p.*419*|ATPAF1_ENST00000371937.4_Silent_p.V134V|ATPAF1_ENST00000542495.1_5'UTR|ATPAF1_ENST00000574428.1_Silent_p.V134V|ATPAF1_ENST00000525633.1_5'UTR			Q5TC12	ATPF1_HUMAN	ATP synthase mitochondrial F1 complex assembly factor 1	134					protein complex assembly	mitochondrion	protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	8	Acute lymphoblastic leukemia(166;0.155)					ATCCTCTGTTCACAGACTGTT	0.348000													7	52					0	0	1	0	0
AKR7A2	8574	broad.mit.edu	37	1	19630866	19630866	+	Silent	SNP	G	G	A	rs147497678		TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:19630866G>A	ENST00000235835.3	-	7	954	c.933C>T	c.(931-933)gaC>gaT	p.D311D		NM_003689.3	NP_003680.2	O43488	ARK72_HUMAN	aldo-keto reductase family 7, member A2 (aflatoxin aldehyde reductase)	311					carbohydrate metabolic process|cellular aldehyde metabolic process	Golgi apparatus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9		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;0.00461)|BRCA - Breast invasive adenocarcinoma(304;1.83e-05)|Kidney(64;0.000167)|GBM - Glioblastoma multiforme(114;0.00115)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GGATGACCGCGTCCCCGTGGG	0.632000													22	128					0	0	1	0	0
IGLV3-10	28803	broad.mit.edu	37	22	23154502	23154502	+	RNA	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr22:23154502C>A	ENST00000390315.2	+	0	106																											TATGAGCTGACACAGCCACCC	0.537000													85	104					2.06477e-34	3.27298e-34	1	1	0
DACT1	51339	broad.mit.edu	37	14	59113434	59113434	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr14:59113434G>A	ENST00000395153.3	+	4	2129	c.1982G>A	c.(1981-1983)cGc>cAc	p.R661H	DACT1_ENST00000335867.4_Missense_Mutation_p.R698H|DACT1_ENST00000395151.3_Missense_Mutation_p.R417H|DACT1_ENST00000556859.1_Missense_Mutation_p.R417H|DACT1_ENST00000541264.2_Missense_Mutation_p.R417H	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	698					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						CGGCGCGGTCGCCGGGAGAAT	0.667000													20	53					0	0	1	0	0
ARHGEF11	9826	broad.mit.edu	37	1	156911756	156911756	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:156911756C>A	ENST00000368194.3	-	34	4391	c.3352G>T	c.(3352-3354)Gtg>Ttg	p.V1118L	ARHGEF11_ENST00000487682.1_5'UTR|ARHGEF11_ENST00000315174.8_Missense_Mutation_p.V494L|ARHGEF11_ENST00000361409.2_Missense_Mutation_p.V1078L	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	1078					actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|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)					GCATTCCGCACGGCCTCTTCT	0.652000													28	108					2.46105e-21	3.67275e-21	1	1	0
ACCS	84680	broad.mit.edu	37	11	44099448	44099448	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:44099448G>A	ENST00000263776.8	+	8	1142	c.708G>A	c.(706-708)atG>atA	p.M236I		NM_001127219.1|NM_032592.3	NP_001120691.1|NP_115981.1	Q96QU6	1A1L1_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)	236							1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						AGCTGGAGATGGCCCTGAGAG	0.567000													4	20					0	0	1	0	0
C6orf15	29113	broad.mit.edu	37	6	31079509	31079509	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr6:31079509C>T	ENST00000259870.3	-	2	630	c.627G>A	c.(625-627)tgG>tgA	p.W209*		NM_014070.2	NP_054789.2	Q6UXA7	CF015_HUMAN	chromosome 6 open reading frame 15	209								p.W209C(1)		endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1)	17						TCAGGGTACCCCAGGGGTGAT	0.602000													19	15					0	0	1	0	0
LEF1	51176	broad.mit.edu	37	4	109000650	109000650	+	Silent	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr4:109000650G>A	ENST00000379951.2	-	6	1947	c.759C>T	c.(757-759)caC>caT	p.H253H	LEF1_ENST00000265165.1_Silent_p.H281H|LEF1_ENST00000438313.2_Silent_p.H253H|LEF1_ENST00000510624.1_Silent_p.H185H	NM_001130713.2|NM_001130714.2	NP_001124185.1|NP_001124186.1	Q9UJU2	LEF1_HUMAN	lymphoid enhancer-binding factor 1	281	Pro-rich.				canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of DNA binding|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|T-helper 1 cell differentiation	cytoplasm|protein-DNA complex|transcription factor complex	armadillo repeat domain binding|beta-catenin binding|C2H2 zinc finger domain binding|caspase inhibitor activity|DNA bending activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000224)		ATACTTACACGTGCATTAGGT	0.512000													8	72					0	0	1	0	0
CLTCL1	8218	broad.mit.edu	37	22	19196445	19196445	+	Silent	SNP	T	T	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr22:19196445T>C	ENST00000263200.10	-	21	3501	c.3429A>G	c.(3427-3429)tcA>tcG	p.S1143S	CLTCL1_ENST00000427926.1_Silent_p.S1143S|CLTCL1_ENST00000353891.5_Silent_p.S1143S	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	1143	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			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)					TCCTGCTGGCTGACTGAACAA	0.512000			T	?	ALCL								9	8					0	0	1	0	0
TAF1	6872	broad.mit.edu	37	X	70586259	70586259	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:70586259G>T	ENST00000449580.1	+	1	146	c.95G>T	c.(94-96)gGa>gTa	p.G32V	TAF1_ENST00000373790.4_Missense_Mutation_p.G32V|TAF1_ENST00000276072.3_Missense_Mutation_p.G32V|TAF1_ENST00000423759.1_Missense_Mutation_p.G32V			P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	32	Protein kinase 1.				G1 phase of mitotic cell cycle|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|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein 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)				GATTCCGCTGGAGGCGGCCCA	0.602000													18	56					0.000132079	0.000143812	1	1	0
KLC4	89953	broad.mit.edu	37	6	43030855	43030855	+	Silent	SNP	G	G	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr6:43030855G>A	ENST00000394056.2	+	4	954	c.459G>A	c.(457-459)ctG>ctA	p.L153L	KLC4_ENST00000394058.1_Silent_p.L153L|KLC4_ENST00000259708.3_Silent_p.L171L|KLC4_ENST00000347162.5_Silent_p.L153L|KLC4_ENST00000458460.2_Silent_p.L153L|KLC4_ENST00000453940.2_Intron|KLC4_ENST00000479388.1_Silent_p.L153L			Q9NSK0	KLC4_HUMAN	kinesin light chain 4	153						cytoplasm|kinesin complex|microtubule	microtubule motor activity|protein binding			endometrium(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(4)	23			all cancers(41;0.00169)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0376)|KIRC - Kidney renal clear cell carcinoma(2;0.0453)			TGGGGCAGCTGCGGCAGTATG	0.617000													16	43					0	0	1	0	0
SLC37A2	219855	broad.mit.edu	37	11	124955548	124955548	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:124955548C>G	ENST00000403796.2	+	16	1704	c.1403C>G	c.(1402-1404)tCt>tGt	p.S468C	SLC37A2_ENST00000525837.1_3'UTR|SLC37A2_ENST00000308074.4_Missense_Mutation_p.S468C|SLC37A2_ENST00000298280.5_3'UTR|SLC37A2_ENST00000407458.1_Missense_Mutation_p.S468C	NM_001145290.1	NP_001138762.1	Q8TED4	SPX2_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 2	468					carbohydrate transport|transmembrane transport	integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	27	all_hematologic(175;0.215)	Breast(109;0.012)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.152)|all_lung(97;0.159)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0384)		ATGCTCATCTCTGCCGACGTC	0.587000													17	91					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55780176	55780176	+	Splice_Site	SNP	C	C	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr10:55780176C>A	ENST00000373965.2	-	21	2942	c.2547_splice	c.e21-1	p.A850_splice	PCDH15_ENST00000395430.1_Splice_Site_p.A843_splice|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395445.1_Splice_Site_p.A850_splice|PCDH15_ENST00000395432.2_Splice_Site_p.A806_splice|PCDH15_ENST00000395438.1_Splice_Site_p.A843_splice|PCDH15_ENST00000373955.1_Splice_Site_p.A843_splice|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000409834.1_Splice_Site_p.A454_splice|PCDH15_ENST00000320301.6_Splice_Site_p.A843_splice|PCDH15_ENST00000414778.1_Splice_Site_p.A848_splice|PCDH15_ENST00000437009.1_Splice_Site_p.A772_splice|PCDH15_ENST00000361849.3_Splice_Site_p.A843_splice|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395433.1_Splice_Site_p.A821_splice|PCDH15_ENST00000395440.1_Intron	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	843	Cadherin 8.				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)				ACATCTTTGGCCTGTAATAAG	0.408000										HNSCC(58;0.16)			42	105					2.35958e-20	3.49574e-20	1	1	0
PPP1R3A	5506	broad.mit.edu	37	7	113519960	113519960	+	Nonsense_Mutation	SNP	G	G	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr7:113519960G>C	ENST00000284601.3	-	4	1255	c.1187C>G	c.(1186-1188)tCa>tGa	p.S396*		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	396					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						GTCATCTCCTGAGGAATATTT	0.398000													64	84					0	0	1	0	0
MXRA8	54587	broad.mit.edu	37	1	1290110	1290110	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:1290110delG	ENST00000309212.6	-	5	931	c.901delC	c.(901-903)ggfs	p.R301fs	MXRA8_ENST00000342753.4_Frame_Shift_Del_p.R200fs|MXRA8_ENST00000445648.2_Frame_Shift_Del_p.R301fs	NM_032348.2	NP_115724.1	Q9BRK3	MXRA8_HUMAN	matrix-remodelling associated 8	301						integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GGAGAGCCCCGGGGGGGCGGC	0.741													15	22	---	---	---	---					
ACOT7	11332	broad.mit.edu	37	1	6409878	6409878	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:6409878delC	ENST00000361521.4	-	2	1183	c.192delG	c.(190-192)ggfs	p.G64fs	ACOT7_ENST00000545482.1_Intron|ACOT7_ENST00000377855.2_Frame_Shift_Del_p.G74fs|ACOT7_ENST00000541130.1_Frame_Shift_Del_p.G44fs|ACOT7_ENST00000377842.3_Frame_Shift_Del_p.G23fs|ACOT7_ENST00000377845.3_Frame_Shift_Del_p.G44fs	NM_007274.3	NP_009205.3	O00154	BACH_HUMAN	acyl-CoA thioesterase 7	74	Acyl coenzyme A hydrolase 1.					mitochondrion|nucleus	carboxylesterase activity|fatty-acyl-CoA binding|palmitoyl-CoA hydrolase activity			kidney(1)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	16	Ovarian(185;0.0634)|all_lung(157;0.175)	all_cancers(23;1.42e-38)|all_epithelial(116;3.96e-23)|all_lung(118;3.69e-08)|Lung NSC(185;8.52e-07)|all_hematologic(16;6.92e-06)|Colorectal(325;4.53e-05)|Acute lymphoblastic leukemia(12;5e-05)|all_neural(13;0.000164)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;9.16e-37)|GBM - Glioblastoma multiforme(13;5.89e-29)|OV - Ovarian serous cystadenocarcinoma(86;7.63e-19)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;2.06e-05)|Kidney(185;7.74e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00129)|BRCA - Breast invasive adenocarcinoma(365;0.00132)|STAD - Stomach adenocarcinoma(132;0.00195)|READ - Rectum adenocarcinoma(331;0.0481)		TCAGGATGGTCCCCCCGTGGA	0.617													10	57	---	---	---	---					
AGO1	26523	broad.mit.edu	37	1	36354045	36354045	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:36354045delC	ENST00000373204.4	+	2	256	c.43delC	c.(43-45)ccfs	p.P16fs	AGO1_ENST00000373206.1_5'UTR	NM_012199.2	NP_036331.1			argonaute RISC catalytic component 1																		CGCTTACCTGCCCCCCCTGCA	0.567													41	82	---	---	---	---					
DMBX1	127343	broad.mit.edu	37	1	46972783	46972783	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:46972783delC	ENST00000371956.4	+	1	116	c.101delC	c.(100-102)gcfs	p.A34fs	DMBX1_ENST00000360032.3_Frame_Shift_Del_p.A34fs	NM_147192.2	NP_671725.1	Q8NFW5	DMBX1_HUMAN	diencephalon/mesencephalon homeobox 1	34	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)					GCCCAGCATGCCCCCGACTAC	0.632													27	57	---	---	---	---					
DMRTB1	63948	broad.mit.edu	37	1	53930444	53930444	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:53930444delC	ENST00000371445.3	+	3	940	c.885delC	c.(883-885)ctfs	p.L295fs		NM_033067.1	NP_149056.1	Q96MA1	DMRTB_HUMAN	DMRT-like family B with proline-rich C-terminal, 1	295	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						TCCACTTCCTCCCCCCGCCAC	0.647													20	110	---	---	---	---					
EFCAB7	84455	broad.mit.edu	37	1	64022857	64022857	+	Frame_Shift_Del	DEL	T	T	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:64022857delT	ENST00000371088.4	+	10	1533	c.1287delT	c.(1285-1287)aafs	p.N429fs	EFCAB7_ENST00000461039.1_3'UTR	NM_032437.2	NP_115813.2	A8K855	EFCB7_HUMAN	EF-hand calcium binding domain 7	429	EF-hand 3.						calcium ion binding	p.F431fs*3(1)		breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						AAGAATATAATTTTTTTGAAT	0.294													11	42	---	---	---	---					
SPATA1	100505741	broad.mit.edu	37	1	84988201	84988201	+	RNA	DEL	T	T	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:84988201delT	ENST00000370638.2	+	0	526									spermatogenesis associated 1											breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|prostate(1)	10				Epithelial(280;4.36e-10)|all cancers(265;7.1e-09)|BRCA - Breast invasive adenocarcinoma(282;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(397;0.00286)|KIRC - Kidney renal clear cell carcinoma(1967;0.0111)		GTAAGTTTTCTTTTTTTTTCT	0.323													19	54	---	---	---	---					
CDC7	8317	broad.mit.edu	37	1	91979538	91979539	+	Frame_Shift_Ins	INS	-	-	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:91979538_91979539insT	ENST00000428239.1	+	8	1115_1116	c.856_857insT	c.(856-858)tttfs	p.F286fs	CDC7_ENST00000430031.2_Frame_Shift_Ins_p.F258fs|CDC7_ENST00000234626.6_Frame_Shift_Ins_p.F286fs	NM_001134420.1	NP_001127892.1	O00311	CDC7_HUMAN	cell division cycle 7	286	Protein kinase.				cell cycle checkpoint|cell division|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|positive regulation of cell proliferation|regulation of S phase	cytoplasm|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2)	23		all_lung(203;0.0165)|Lung NSC(277;0.0562)		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)		CCAGCGCTCTGTTTTTGGAGAA	0.396													10	54	---	---	---	---					
PIAS3	10401	broad.mit.edu	37	1	145578385	145578385	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:145578385delC	ENST00000393045.2	+	2	438	c.348delC	c.(346-348)cafs	p.H116fs	PIAS3_ENST00000369298.1_Intron|PIAS3_ENST00000369299.3_Frame_Shift_Del_p.H107fs	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	116	PINIT.|Pro-rich.				positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TGGACATGCACCCCCCTCTGC	0.627													10	148	---	---	---	---					
CTSK	1513	broad.mit.edu	37	1	150778662	150778663	+	Frame_Shift_Ins	INS	-	-	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:150778662_150778663insT	ENST00000271651.3	-	3	268_269	c.158_159insA	c.(157-159)actfs	p.T53fs	CTSK_ENST00000480670.1_Intron	NM_000396.3	NP_000387.1	P43235	CATK_HUMAN	cathepsin K	53					proteolysis	lysosome	cysteine-type endopeptidase activity|protein binding			cervix(1)|endometrium(1)|lung(4)|skin(1)	7	all_cancers(9;2.32e-51)|all_epithelial(9;3.89e-42)|all_lung(15;4.59e-35)|Lung NSC(24;1.7e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Colorectal(459;0.171)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			TATACTTCAGGTTTTTTTCCCA	0.396													7	43	---	---	---	---					
FLG	2312	broad.mit.edu	37	1	152286884	152286885	+	Frame_Shift_Ins	INS	-	-	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:152286884_152286885insT	ENST00000368799.1	-	3	512_513	c.477_478insA	c.(475-480)aaaaagfs	p.KK159fs	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	159					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)			CCTTTTCTTTCTTTTTTTTCAG	0.342									Ichthyosis				16	58	---	---	---	---					
DENND4B	9909	broad.mit.edu	37	1	153916547	153916547	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:153916547delG	ENST00000361217.4	-	2	722	c.304delC	c.(304-306)tcfs	p.L102fs		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	102	MABP.									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)			AGCTCAACGAGGGGGGGCTTG	0.632													13	52	---	---	---	---					
HAX1	10456	broad.mit.edu	37	1	154246391	154246391	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:154246391delC	ENST00000328703.7	+	3	671	c.458delC	c.(457-459)tcfs	p.S153fs	HAX1_ENST00000483970.2_Frame_Shift_Del_p.S161fs|HAX1_ENST00000457918.2_Frame_Shift_Del_p.S105fs|HAX1_ENST00000532105.1_Frame_Shift_Del_p.S25fs	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	153	Involved in HCLS1 binding.					actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			AGAAGTGAATCCCCCCAACCA	0.532									Kostmann syndrome				27	178	---	---	---	---					
GBA	2629	broad.mit.edu	37	1	155209780	155209781	+	Frame_Shift_Ins	INS	-	-	G	rs141061530		TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:155209780_155209781insG	ENST00000327247.5	-	4	435_436	c.203_204insC	c.(202-204)cacfs	p.H68fs	GBA_ENST00000493842.1_5'UTR|GBA_ENST00000427500.2_Frame_Shift_Ins_p.H68fs|GBA_ENST00000368373.3_Frame_Shift_Ins_p.H68fs|GBA_ENST00000428024.2_5'UTR|GBA_ENST00000536770.1_Intron	NM_001005741.2|NM_001005742.2	NP_001005741.1|NP_001005742.1	P04062	GLCM_HUMAN	glucosidase, beta, acid	68					carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of interleukin-6 production|negative regulation of MAP kinase activity|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction	lysosomal lumen|lysosomal membrane	cation binding|glucosylceramidase activity|receptor binding	p.P68P(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	26	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		Alglucerase(DB00088)|Imiglucerase(DB00053)	CAGGAAAGGTCGGGGGGTCAAA	0.604									Gaucher disease type I				9	84	---	---	---	---					
C1orf85	112770	broad.mit.edu	37	1	156264663	156264663	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:156264663delG	ENST00000362007.1	-	2	291	c.265delC	c.(265-267)acfs	p.H89fs	C1orf85_ENST00000472870.1_5'UTR|C1orf85_ENST00000368264.1_Intron	NM_001256604.1|NM_001256609.1|NM_144580.2	NP_001243533.1|NP_001243538.1|NP_653181.1	Q8WWB7	NCUG1_HUMAN	chromosome 1 open reading frame 85	89					positive regulation of transcription from RNA polymerase II promoter	cytosol|integral to membrane|lysosomal membrane|nucleus	ligand-dependent nuclear receptor activity|protein binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(2)|skin(3)	14	Hepatocellular(266;0.158)					AGGGTGCTGTGGGGGGTGTTG	0.597													30	329	---	---	---	---					
TNR	7143	broad.mit.edu	37	1	175324641	175324642	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:175324641_175324642insG	ENST00000367674.1	-	17	3954_3955	c.3246_3247insC	c.(3244-3249)cgaggafs	p.G1083fs	TNR_ENST00000263525.2_Frame_Shift_Ins_p.G1083fs	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	1083	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)					AATCTCACCTTGCGGCTTCCAT	0.510													28	113	---	---	---	---					
FAM163A	148753	broad.mit.edu	37	1	179783255	179783255	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:179783255delC	ENST00000341785.4	+	5	831	c.435delC	c.(433-435)tafs	p.Y145fs		NM_173509.2	NP_775780.1	Q96GL9	F163A_HUMAN	family with sequence similarity 163, member A	145						integral to membrane				endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)	15						CCCAGAGTTACCCGGTGACCT	0.597													34	151	---	---	---	---					
IL10	3586	broad.mit.edu	37	1	206944290	206944290	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:206944290delC	ENST00000423557.1	-	3	398	c.340delG	c.(340-342)agfs	p.E114fs	IL10_ENST00000471071.1_5'UTR	NM_000572.2	NP_000563.1	P22301	IL10_HUMAN	interleukin 10	114					anti-apoptosis|B cell differentiation|B cell proliferation|cytoplasmic sequestering of NF-kappaB|inflammatory response|leukocyte chemotaxis|negative regulation of B cell proliferation|negative regulation of cytokine secretion involved in immune response|negative regulation of interferon-alpha biosynthetic process|negative regulation of interleukin-6 production|negative regulation of membrane protein ectodomain proteolysis|negative regulation of MHC class II biosynthetic process|negative regulation of T cell proliferation|positive regulation of B cell apoptosis|positive regulation of cytokine secretion|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|receptor biosynthetic process|regulation of isotype switching|response to glucocorticoid stimulus|type 2 immune response	extracellular space	cytokine activity|growth factor activity|interleukin-10 receptor binding			endometrium(1)|large_intestine(6)|lung(4)|prostate(1)	12	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			TTCAGGTTCTCCCCCAGGGAG	0.537													18	112	---	---	---	---					
ADSS	159	broad.mit.edu	37	1	244595876	244595877	+	Frame_Shift_Ins	INS	-	-	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr1:244595876_244595877insT	ENST00000366535.3	-	4	692_693	c.376_377insA	c.(376-378)gctfs	p.A126fs		NM_001126.3	NP_001117.2	P30520	PURA2_HUMAN	adenylosuccinate synthase	126					AMP biosynthetic process|immune system process|purine base metabolic process	cytosol|plasma membrane	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)	all_cancers(173;0.0896)|all_epithelial(177;0.172)	all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014)		L-Aspartic Acid(DB00128)	TATAATAAGCCTTTTTTCCCAG	0.248													33	144	---	---	---	---					
C2orf42	54980	broad.mit.edu	37	2	70392682	70392682	+	Frame_Shift_Del	DEL	T	T	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr2:70392682delT	ENST00000264434.2	-	7	1609	c.1230delA	c.(1228-1230)aafs	p.K410fs	C2orf42_ENST00000420306.1_Frame_Shift_Del_p.K410fs	NM_017880.1	NP_060350.1	Q9NWW7	CB042_HUMAN	chromosome 2 open reading frame 42	410										endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						TGGGGAGCCGTTTTTTTGCAC	0.408													15	74	---	---	---	---					
RNF103	7844	broad.mit.edu	37	2	86831015	86831015	+	Frame_Shift_Del	DEL	T	T	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr2:86831015delT	ENST00000237455.4	-	4	2977	c.2009delA	c.(2008-2010)agfs	p.K670fs	RNF103-CHMP3_ENST00000604011.1_Intron|AC015971.2_ENST00000439077.1_RNA|AC015971.2_ENST00000597638.1_RNA|CHMP3_ENST00000439940.2_Intron	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN	ring finger protein 103	670					central nervous system development|ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						ATATGGCTGCTTTTTTTTATA	0.443													28	106	---	---	---	---					
ANKRD36C	400986	broad.mit.edu	37	2	96521244	96521245	+	Frame_Shift_Ins	INS	-	-	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr2:96521244_96521245insT	ENST00000456556.1	-	63	4848_4849	c.4764_4765insA	c.(4762-4767)aaaaaafs	p.KK1588fs	ANKRD36C_ENST00000420871.2_Frame_Shift_Ins_p.KK839fs|ANKRD36C_ENST00000419039.2_Frame_Shift_Ins_p.KK615fs					ankyrin repeat domain 36C											breast(1)|endometrium(8)|kidney(5)|lung(4)	18						AACATATTTTGTTTTTTTAGTT	0.332													8	141	---	---	---	---					
LIPT1	51601	broad.mit.edu	37	2	99778781	99778781	+	Frame_Shift_Del	DEL	A	A	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr2:99778781delA	ENST00000393477.3	+	4	713	c.361delA	c.(361-363)aafs	p.K123fs	MRPL30_ENST00000410042.1_Intron|LIPT1_ENST00000340066.1_Frame_Shift_Del_p.K123fs|LIPT1_ENST00000393473.2_Frame_Shift_Del_p.K123fs|LIPT1_ENST00000393471.2_Frame_Shift_Del_p.K123fs|LIPT1_ENST00000393474.3_Frame_Shift_Del_p.K123fs	NM_145197.2	NP_660198.1	Q9Y234	LIPT_HUMAN	lipoyltransferase 1	123					lipid metabolic process|protein lipoylation	mitochondrion	acyltransferase activity			large_intestine(6)|lung(1)	7					Lipoic Acid(DB00166)	CTTTACAACCAAAAAAAAGTA	0.388													9	89	---	---	---	---					
GORASP2	26003	broad.mit.edu	37	2	171822355	171822355	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr2:171822355delC	ENST00000234160.4	+	10	1889	c.1074delC	c.(1072-1074)ctfs	p.L358fs	GORASP2_ENST00000493692.1_3'UTR|GORASP2_ENST00000452526.2_Frame_Shift_Del_p.L370fs	NM_001201428.1|NM_015530.4	NP_001188357.1|NP_056345.3	Q9H8Y8	GORS2_HUMAN	golgi reassembly stacking protein 2, 55kDa	358	Pro-rich.					Golgi membrane				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14						TTGCACCTCTCCCCCTGCCAT	0.567													7	136	---	---	---	---					
HECW2	57520	broad.mit.edu	37	2	197172719	197172719	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr2:197172719delG	ENST00000260983.2	-	11	2707	c.2525delC	c.(2524-2526)cafs	p.P842fs	HECW2_ENST00000409111.1_Frame_Shift_Del_p.P486fs	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	842	Interaction with TP73.				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						CTGCGGGGCTGGGGGAGCTGT	0.547													10	63	---	---	---	---					
BARD1	580	broad.mit.edu	37	2	215645459	215645459	+	Frame_Shift_Del	DEL	T	T	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr2:215645459delT	ENST00000260947.4	-	4	1273	c.1139delA	c.(1138-1140)acfs	p.N380fs	BARD1_ENST00000449967.2_Frame_Shift_Del_p.N236fs	NM_000465.2	NP_000456.2	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	380					cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CATGTTACTGTTTTTCCTCCC	0.423									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				8	92	---	---	---	---					
TRIP12	9320	broad.mit.edu	37	2	230661315	230661315	+	Frame_Shift_Del	DEL	A	A	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr2:230661315delA	ENST00000283943.5	-	24	3761	c.3583delT	c.(3583-3585)ctfs	p.S1196fs	TRIP12_ENST00000389045.3_Frame_Shift_Del_p.S926fs|TRIP12_ENST00000389044.4_Frame_Shift_Del_p.S1244fs	NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1196					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		ACTGGAGAAGAAAAAAATACA	0.338													8	56	---	---	---	---					
KCNH8	131096	broad.mit.edu	37	3	19554525	19554527	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr3:19554525_19554527delGAG	ENST00000328405.2	+	13	2409_2411	c.2143_2145delGAG	c.(2143-2145)del	p.E718del		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	718	Poly-Glu.					integral to membrane	two-component sensor activity			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						agatgaggaagaggaggaggagg	0.493													8	28	---	---	---	---					
TMEM89	440955	broad.mit.edu	37	3	48659165	48659167	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr3:48659165_48659167delGCA	ENST00000330862.3	-	1	121_123	c.23_25delTGC	c.(22-27)cct>c	p.LP8del		NM_001008269.1	NP_001008270.1	A2RUT3	TMM89_HUMAN	transmembrane protein 89	8						integral to membrane				breast(1)|lung(1)|stomach(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		AGCAGCAAAGGCAGCGAGGCCAG	0.695													14	34	---	---	---	---					
SPATA12	353324	broad.mit.edu	37	3	57108022	57108024	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr3:57108022_57108024delTCT	ENST00000334325.1	+	2	975_977	c.300_302delTCT	c.(298-303)aat>aa	p.NL100del	ARHGEF3_ENST00000338458.4_Intron	NM_181727.1	NP_859078.1	Q7Z6I5	SPT12_HUMAN	spermatogenesis associated 12	100										large_intestine(2)|lung(1)	3				KIRC - Kidney renal clear cell carcinoma(284;0.0111)|Kidney(284;0.0129)		CCCAAATAAATCTTCTGGGAAGA	0.453													28	52	---	---	---	---					
ESYT3	83850	broad.mit.edu	37	3	138187531	138187533	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr3:138187531_138187533delTCT	ENST00000389567.4	+	13	1529_1531	c.1343_1345delTCT	c.(1342-1347)gtc>g	p.VF448del		NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	448	C2 2.					integral to membrane|plasma membrane				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						ATTCTCGTGGTCTTCTTGGAGAG	0.522													10	167	---	---	---	---					
DHX36	170506	broad.mit.edu	37	3	153998375	153998375	+	Frame_Shift_Del	DEL	T	T	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr3:153998375delT	ENST00000496811.1	-	22	2640	c.2560delA	c.(2560-2562)gafs	p.R854fs	DHX36_ENST00000308361.6_Frame_Shift_Del_p.R825fs|DHX36_ENST00000329463.5_Frame_Shift_Del_p.R840fs|DHX36_ENST00000544526.1_Frame_Shift_Del_p.R840fs	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	854						cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TACATTTTTCTTTTTTTACCC	0.294													10	49	---	---	---	---					
NMD3	51068	broad.mit.edu	37	3	160967314	160967315	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr3:160967314_160967315delAG	ENST00000460469.1	+	13	1731_1732	c.1276_1277delAG	c.(1276-1278)afs	p.R426fs	NMD3_ENST00000472947.1_Frame_Shift_Del_p.R426fs|NMD3_ENST00000351193.2_Frame_Shift_Del_p.R426fs			Q96D46	NMD3_HUMAN	NMD3 ribosome export adaptor	426	Necessary for the nuclear export of the 60S ribosomal subunit.				protein transport	cytoplasm|nucleolus|nucleoplasm				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2)	25			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)			AGAGCTTGCAAGAGAGAGAGAA	0.337													13	60	---	---	---	---					
FXR1	8087	broad.mit.edu	37	3	180671564	180671564	+	Frame_Shift_Del	DEL	A	A	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr3:180671564delA	ENST00000357559.4	+	9	1200	c.816delA	c.(814-816)gtfs	p.V272fs	FXR1_ENST00000491062.1_Frame_Shift_Del_p.V223fs|FXR1_ENST00000305586.7_Frame_Shift_Del_p.V187fs|FXR1_ENST00000480918.1_Frame_Shift_Del_p.V259fs|FXR1_ENST00000468861.1_Frame_Shift_Del_p.V187fs|FXR1_ENST00000445140.2_Frame_Shift_Del_p.V272fs	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	272					apoptosis|cell differentiation|muscle organ development	nucleolus|polysome				breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			CTGATGCTGTAAAAAAGGCTA	0.353													23	127	---	---	---	---					
TNK2	10188	broad.mit.edu	37	3	195595228	195595229	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr3:195595228_195595229insG	ENST00000333602.6	-	12	2512_2513	c.1895_1896insC	c.(1894-1896)cccfs	p.P632fs	TNK2_ENST00000381916.2_Frame_Shift_Ins_p.P710fs|TNK2_ENST00000392400.1_Frame_Shift_Ins_p.P632fs|TNK2_ENST00000428187.1_Frame_Shift_Ins_p.P664fs	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	632	Pro-rich.|Required for interaction with NEDD4 (By similarity).|Required for interaction with SRC.			Missing (in Ref. 4; AAH08884).	positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	CATAGGCGGGCGGGGGGGGCAG	0.728													13	102	---	---	---	---					
MAN2B2	23324	broad.mit.edu	37	4	6611639	6611639	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr4:6611639delC	ENST00000285599.3	+	13	2157	c.2121delC	c.(2119-2121)ggfs	p.G707fs	MAN2B2_ENST00000504960.1_3'UTR|MAN2B2_ENST00000504248.1_Frame_Shift_Del_p.G656fs	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	707					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						ACCAAGCCGGCCCCCTGGAGC	0.602													14	39	---	---	---	---					
PSAPL1	768239	broad.mit.edu	37	4	7435832	7435832	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr4:7435832delC	ENST00000319098.4	-	1	868	c.775delG	c.(775-777)cafs	p.A259fs	SORCS2_ENST00000507866.2_Intron|SORCS2_ENST00000511199.1_Intron|SORCS2_ENST00000329016.9_Intron	NM_001085382.1	NP_001078851.1	Q6NUJ1	SAPL1_HUMAN	prosaposin-like 1 (gene/pseudogene)	259					sphingolipid metabolic process	extracellular region|lysosome				lung(4)	4						CGGGCAGGTGCCCCTAGCTCC	0.597													13	53	---	---	---	---					
GABRA4	2557	broad.mit.edu	37	4	46995383	46995383	+	Frame_Shift_Del	DEL	A	A	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr4:46995383delA	ENST00000264318.3	-	1	1041	c.59delT	c.(58-60)ccfs	p.L21fs	GABRA4_ENST00000509316.1_5'UTR	NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	21					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GAAGCGCAGGAGGGCGAAACT	0.592													32	232	---	---	---	---					
SRP72	6731	broad.mit.edu	37	4	57333819	57333820	+	Frame_Shift_Ins	INS	-	-	G	rs17524437	by1000genomes	TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr4:57333819_57333820insG	ENST00000342756.5	+	1	739_740	c.18_19insG	c.(16-21)agggggfs	p.RG6fs	SRP72_ENST00000504757.1_Frame_Shift_Ins_p.RG6fs|SRP72_ENST00000510663.1_Frame_Shift_Ins_p.RG6fs	NM_006947.3	NP_008878.3	O76094	SRP72_HUMAN	signal recognition particle 72kDa	6					response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|nucleolus|plasma membrane|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|signal recognition particle binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2)	22	Glioma(25;0.08)|all_neural(26;0.101)					GCGGCGGCAGCGGGGGGGTGTC	0.639													7	43	---	---	---	---					
EPHA5	2044	broad.mit.edu	37	4	66231662	66231665	+	Frame_Shift_Del	DEL	CTCT	CTCT	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr4:66231662_66231665delCTCT	ENST00000273854.3	-	11	2635_2638	c.2035_2038delAGAG	c.(2035-2040)ttfs	p.RV679fs	EPHA5_ENST00000432638.2_Frame_Shift_Del_p.RV516fs|EPHA5_ENST00000354839.4_Frame_Shift_Del_p.RV657fs|EPHA5_ENST00000511294.1_Frame_Shift_Del_p.RV680fs	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	679	Protein kinase.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						GCTCCAATAACTCTCTCAATGGTG	0.377										TSP Lung(17;0.13)			9	148	---	---	---	---					
THAP6	152815	broad.mit.edu	37	4	76442067	76442067	+	Frame_Shift_Del	DEL	A	A	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr4:76442067delA	ENST00000311638.3	+	3	234	c.166delA	c.(166-168)aafs	p.K57fs	THAP6_ENST00000508105.1_Frame_Shift_Del_p.K16fs|THAP6_ENST00000514480.1_Frame_Shift_Del_p.K57fs|THAP6_ENST00000507885.1_Frame_Shift_Del_p.K16fs|THAP6_ENST00000507557.1_Frame_Shift_Del_p.K16fs|THAP6_ENST00000507556.1_Frame_Shift_Del_p.K57fs|THAP6_ENST00000504190.1_Frame_Shift_Del_p.K16fs|THAP6_ENST00000502620.1_Frame_Shift_Del_p.K16fs|THAP6_ENST00000380837.3_Frame_Shift_Del_p.K57fs	NM_144721.4	NP_653322.1	Q8TBB0	THAP6_HUMAN	THAP domain containing 6	57						microtubule cytoskeleton	DNA binding|metal ion binding			lung(5)	5			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			TTGGGAGCCTAAAAAAGGAGA	0.378													11	110	---	---	---	---					
WDFY3	23001	broad.mit.edu	37	4	85715676	85715677	+	Frame_Shift_Ins	INS	-	-	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr4:85715676_85715677insT	ENST00000322366.6	-	21	3889_3890	c.3482_3483insA	c.(3481-3483)atafs	p.I1161fs	WDFY3_ENST00000295888.4_Frame_Shift_Ins_p.I1161fs			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1161						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)		ACTGACCATAATTTTGGAGGAG	0.312													42	116	---	---	---	---					
BANK1	55024	broad.mit.edu	37	4	102951317	102951317	+	Frame_Shift_Del	DEL	A	A	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr4:102951317delA	ENST00000504592.1	+	14	2168	c.1750delA	c.(1750-1752)aafs	p.K585fs	RP11-498M5.2_ENST00000505091.1_RNA|BANK1_ENST00000322953.4_Frame_Shift_Del_p.K600fs|BANK1_ENST00000444316.2_Frame_Shift_Del_p.K570fs|BANK1_ENST00000428908.1_Frame_Shift_Del_p.K467fs|BANK1_ENST00000508653.1_Frame_Shift_Del_p.K467fs			Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	600					B cell activation					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		GAGTATAAAGAAAAAAACTGG	0.423													16	87	---	---	---	---					
ANK2	287	broad.mit.edu	37	4	114276131	114276131	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr4:114276131delG	ENST00000357077.4	+	38	6410	c.6357delG	c.(6355-6357)cafs	p.Q2119fs	ANK2_ENST00000509550.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Frame_Shift_Del_p.Q2086fs|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2086					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)		CTGATGAGCAGGGAGACATGG	0.453													15	51	---	---	---	---					
TTC39CP1	100288825	broad.mit.edu	37	4	117115754	117115754	+	RNA	DEL	T	T	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr4:117115754delT	ENST00000509983.1	-	0	333																											GAACCCTTTATTTTTTTTCAG	0.398													2	4	---	---	---	---					
GALNTL6	442117	broad.mit.edu	37	4	173961139	173961141	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr4:173961139_173961141delAGA	ENST00000506823.1	+	13	2351_2353	c.1694_1696delAGA	c.(1693-1698)gag>g	p.EK565del	GALNTL6_ENST00000508122.1_In_Frame_Del_p.EK548del	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6	565	Ricin B-type lectin.					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.K567delK(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						AACCCCGCAGAGAAGAAGATTTT	0.424													21	55	---	---	---	---					
PRLR	5618	broad.mit.edu	37	5	35065958	35065958	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr5:35065958delG	ENST00000382002.5	-	10	1528	c.1102delC	c.(1102-1104)agfs	p.Q368fs	PRLR_ENST00000342362.5_Frame_Shift_Del_p.Q267fs|PRLR_ENST00000542609.1_Intron|PRLR_ENST00000511486.1_Frame_Shift_Del_p.Q267fs|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000310101.5_Intron|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000231423.3_Intron|PRLR_ENST00000513753.1_Intron	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	368					activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	GGATTGGCCTGGGGTTCCTCA	0.527													21	92	---	---	---	---					
SPEF2	79925	broad.mit.edu	37	5	35654721	35654721	+	Frame_Shift_Del	DEL	A	A	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr5:35654721delA	ENST00000440995.2	+	7	871	c.871delA	c.(871-873)aafs	p.K292fs	SPEF2_ENST00000509059.1_Frame_Shift_Del_p.K292fs|SPEF2_ENST00000282469.6_Frame_Shift_Del_p.K292fs|SPEF2_ENST00000356031.3_Frame_Shift_Del_p.K292fs			Q9C093	SPEF2_HUMAN	sperm flagellar 2	292					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)			CGAGTACATTAAAAAAATCCA	0.398													21	205	---	---	---	---					
C6	729	broad.mit.edu	37	5	41181560	41181560	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr5:41181560delC	ENST00000263413.3	-	7	1092	c.828delG	c.(826-828)ggfs	p.G276fs	C6_ENST00000337836.5_Frame_Shift_Del_p.G276fs|C6_ENST00000475349.1_5'UTR	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	276	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TGAAAGAGCTCCCCCCCTGAC	0.378													21	135	---	---	---	---					
SNCAIP	9627	broad.mit.edu	37	5	121786666	121786667	+	Frame_Shift_Del	DEL	AG	AG	-	rs55712196	byFrequency	TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr5:121786666_121786667delAG	ENST00000261367.7	+	12	3693_3694	c.2265_2266delAG	c.(2263-2268)gtagfs	p.VE755fs	CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000379538.3_Frame_Shift_Del_p.VE342fs|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000504884.2_3'UTR|CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000414317.2_Frame_Shift_Del_p.VE310fs|CTC-210G5.1_ENST00000505546.1_RNA|SNCAIP_ENST00000261368.8_Frame_Shift_Del_p.VE708fs|SNCAIP_ENST00000503116.2_3'UTR|SNCAIP_ENST00000379536.2_Frame_Shift_Del_p.VE648fs|CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000379533.2_Frame_Shift_Del_p.VE755fs|SNCAIP_ENST00000542191.1_Frame_Shift_Del_p.VE266fs			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	708					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)		TAGAAAGCGTAGAGAGTATGGA	0.535													14	39	---	---	---	---					
ISOC1	51015	broad.mit.edu	37	5	128441039	128441040	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr5:128441039_128441040delAG	ENST00000173527.5	+	3	607_608	c.591_592delAG	c.(589-594)gcagfs	p.AE197fs		NM_016048.2	NP_057132.2	Q96CN7	ISOC1_HUMAN	isochorismatase domain containing 1	197						peroxisome	catalytic activity			kidney(2)|lung(7)	9		all_cancers(142;0.0813)|Prostate(80;0.0865)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.138)|OV - Ovarian serous cystadenocarcinoma(64;0.164)		CGGCATTAGCAGAGATTCCCGG	0.361													12	40	---	---	---	---					
MATR3	9782	broad.mit.edu	37	5	138643878	138643878	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr5:138643878delC	ENST00000394800.2	+	6	1323	c.774delC	c.(772-774)ggfs	p.G258fs	MATR3_ENST00000502929.1_Frame_Shift_Del_p.G258fs|MATR3_ENST00000502499.1_Intron|MATR3_ENST00000504203.1_Intron|MATR3_ENST00000503811.1_Intron|MATR3_ENST00000510056.1_Frame_Shift_Del_p.G258fs|MATR3_ENST00000509990.1_Frame_Shift_Del_p.G258fs|MATR3_ENST00000394805.3_Frame_Shift_Del_p.G258fs|MATR3_ENST00000361059.2_Frame_Shift_Del_p.G258fs			P43243	MATR3_HUMAN	matrin 3	258						nuclear inner membrane|nuclear matrix	nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding			breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GTGGTCCTGGCCCCTTACAAG	0.448													32	39	---	---	---	---					
TCERG1	10915	broad.mit.edu	37	5	145883527	145883529	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr5:145883527_145883529delAGA	ENST00000296702.5	+	18	2726_2728	c.2688_2690delAGA	c.(2686-2691)cga>cg	p.RE896del	TCERG1_ENST00000394421.2_In_Frame_Del_p.RE875del|TCERG1_ENST00000509787.1_3'UTR	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	896					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGCACAAACGAGAAGAAGCTATC	0.394													10	47	---	---	---	---					
HMMR	3161	broad.mit.edu	37	5	162917426	162917426	+	Frame_Shift_Del	DEL	A	A	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr5:162917426delA	ENST00000416990.2	+	17	2145	c.1648delA	c.(1648-1650)aafs	p.K552fs	HMMR_ENST00000353866.3_Frame_Shift_Del_p.K651fs|HMMR_ENST00000393915.4_Frame_Shift_Del_p.K667fs|RP11-80G7.1_ENST00000514724.2_RNA|HMMR_ENST00000432118.2_Frame_Shift_Del_p.K580fs|HMMR_ENST00000358715.3_Frame_Shift_Del_p.K666fs|RP11-80G7.1_ENST00000521666.1_RNA			O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)	666						cell surface|cytoplasm	hyaluronic acid binding			cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)		TCAGCTTGCTAAAAAAAAACA	0.308													19	32	---	---	---	---					
HRH2	3274	broad.mit.edu	37	5	175111218	175111219	+	Frame_Shift_Ins	INS	-	-	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr5:175111218_175111219insA	ENST00000231683.2	+	1	2755_2756	c.982_983insA	c.(982-984)aagfs	p.K328fs	HRH2_ENST00000377291.2_Frame_Shift_Ins_p.K328fs	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	histamine receptor H2	328					G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)	GTCCAGGACCCAAAGCCGAGAA	0.594													41	60	---	---	---	---					
STK19	8859	broad.mit.edu	37	6	31939829	31939830	+	Frame_Shift_Ins	INS	-	-	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr6:31939829_31939830insA	ENST00000375331.2	+	1	222_223	c.56_57insA	c.(55-57)gaafs	p.E19fs	DOM3Z_ENST00000478221.1_5'UTR|STK19_ENST00000375333.2_Frame_Shift_Ins_p.E19fs|DOM3Z_ENST00000337523.5_5'UTR|DOM3Z_ENST00000375349.3_5'UTR	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN	serine/threonine kinase 19	19						nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			skin(5)|upper_aerodigestive_tract(2)	7						CAGTGGCGGGCAAACCCCTCCC	0.634													10	178	---	---	---	---					
CUL7	9820	broad.mit.edu	37	6	43011247	43011250	+	Frame_Shift_Del	DEL	GTGA	GTGA	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr6:43011247_43011250delGTGA	ENST00000535468.1	-	17	3629_3632	c.3543_3546delTCAC	c.(3541-3546)acfs	p.TH1181fs	CUL7_ENST00000265348.3_Frame_Shift_Del_p.TH1097fs	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	cullin 7	1097					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GCACCAGCAGGTGAGTGAGACGGC	0.637													8	74	---	---	---	---					
DST	667	broad.mit.edu	37	6	56362758	56362760	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr6:56362758_56362760delCTT	ENST00000370754.5	-	81	19894_19896	c.19895_19897delAAG	c.(19894-19899)gca>g	p.EA6632del	DST_ENST00000340834.4_5'UTR|DST_ENST00000312431.6_3'UTR|DST_ENST00000370788.2_In_Frame_Del_p.EA4257del|DST_ENST00000421834.2_In_Frame_Del_p.EA4366del|DST_ENST00000446842.2_In_Frame_Del_p.EA6128del|DST_ENST00000244364.6_In_Frame_Del_p.EA4040del|DST_ENST00000361203.3_In_Frame_Del_p.EA6343del|DST_ENST00000370769.4_In_Frame_Del_p.EA6454del			Q03001	DYST_HUMAN	dystonin	6452					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	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|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus 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)			AGGTTGCTTGCTTCTTCTCCTGC	0.419													11	140	---	---	---	---					
FAM135A	57579	broad.mit.edu	37	6	71212362	71212362	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr6:71212362delG	ENST00000418814.2	+	12	1511	c.897delG	c.(895-897)ctfs	p.L299fs	FAM135A_ENST00000457062.2_Frame_Shift_Del_p.L282fs|FAM135A_ENST00000505769.1_Frame_Shift_Del_p.L299fs|FAM135A_ENST00000370479.3_Frame_Shift_Del_p.L282fs|FAM135A_ENST00000505868.1_Frame_Shift_Del_p.L299fs|FAM135A_ENST00000361499.3_Frame_Shift_Del_p.L299fs	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	299										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						CTGATGAACTGGCAGAACTTA	0.308													28	42	---	---	---	---					
DNAH11	8701	broad.mit.edu	37	7	21639563	21639564	+	Frame_Shift_Ins	INS	-	-	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr7:21639563_21639564insT	ENST00000328843.6	+	15	2857_2858	c.2826_2827insT	c.(2824-2829)ccttttfs	p.PF942fs	DNAH11_ENST00000409508.3_Frame_Shift_Ins_p.PF942fs			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	942	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						AACCGGCACCGTTTTTTCAAGC	0.406									Kartagener syndrome				13	25	---	---	---	---					
TMEM60	85025	broad.mit.edu	37	7	77423460	77423460	+	Frame_Shift_Del	DEL	T	T	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr7:77423460delT	ENST00000257663.3	-	2	607	c.231delA	c.(229-231)aafs	p.K77fs		NM_032936.3	NP_116325.1	Q9H2L4	TMM60_HUMAN	transmembrane protein 60	77						integral to membrane				endometrium(1)|large_intestine(1)|lung(2)	4						GGTACCAGGCTTTTTTTTTAA	0.408													20	132	---	---	---	---					
PCLO	27445	broad.mit.edu	37	7	82544822	82544822	+	Frame_Shift_Del	DEL	T	T	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr7:82544822delT	ENST00000423517.2	-	7	12817	c.12480delA	c.(12478-12480)aafs	p.K4160fs	PCLO_ENST00000437081.1_Frame_Shift_Del_p.K880fs|PCLO_ENST00000333891.8_Frame_Shift_Del_p.K4160fs	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4091					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						ACTTCTCAGATTTTGGAAAAT	0.383													18	104	---	---	---	---					
PILRA	29992	broad.mit.edu	37	7	99971280	99971281	+	Translation_Start_Site	INS	-	-	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr7:99971280_99971281insT	ENST00000198536.2	+	0	213_214				PILRA_ENST00000453419.1_Start_Codon_Ins|PILRA_ENST00000350573.2_Start_Codon_Ins|PILRA_ENST00000394000.2_Start_Codon_Ins	NM_013439.2	NP_038467.2	Q9UKJ1	PILRA_HUMAN	paired immunoglobin-like type 2 receptor alpha						interspecies interaction between organisms	extracellular region|integral to membrane|plasma membrane	protein binding|receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	15	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GAACAAGGCCATGGGTCGGCCC	0.668													62	96	---	---	---	---					
AP1S1	1174	broad.mit.edu	37	7	100802405	100802405	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr7:100802405delG	ENST00000337619.5	+	4	475	c.357delG	c.(355-357)atfs	p.M119fs		NM_001283.3	NP_001274.1	P61966	AP1S1_HUMAN	adaptor-related protein complex 1, sigma 1 subunit	119					intracellular protein transport|post-Golgi vesicle-mediated transport|receptor-mediated endocytosis|regulation of defense response to virus by virus|response to virus|viral reproduction	AP-1 adaptor complex|coated pit|cytosol|lysosomal membrane	protein binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)	8	Lung NSC(181;0.168)|all_lung(186;0.215)					AGTTTTTGATGGGGGGGGATG	0.562													14	49	---	---	---	---					
SLC26A5	375611	broad.mit.edu	37	7	103061308	103061308	+	Frame_Shift_Del	DEL	T	T	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr7:103061308delT	ENST00000306312.3	-	4	430	c.169delA	c.(169-171)tafs	p.I57fs	SLC26A5_ENST00000393723.1_Frame_Shift_Del_p.I57fs|SLC26A5_ENST00000393727.1_Frame_Shift_Del_p.I57fs|SLC26A5_ENST00000393730.1_Frame_Shift_Del_p.I57fs|SLC26A5_ENST00000393735.2_Frame_Shift_Del_p.I57fs|SLC26A5_ENST00000356767.4_Frame_Shift_Del_p.I57fs|SLC26A5_ENST00000339444.6_Frame_Shift_Del_p.I57fs|SLC26A5_ENST00000354356.4_5'UTR|SLC26A5_ENST00000432958.2_Frame_Shift_Del_p.I57fs|SLC26A5_ENST00000393729.1_Frame_Shift_Del_p.I57fs	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	57					regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity	p.I57fs*1(1)		endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						ATATTTCTTATTTTTTTAGGA	0.353													14	90	---	---	---	---					
FAM3C	10447	broad.mit.edu	37	7	121023066	121023067	+	Splice_Site	INS	-	-	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr7:121023066_121023067insA	ENST00000359943.3	-	2	173		c.e2-2			NM_001040020.1|NM_014888.2	NP_001035109.1|NP_055703.1	Q92520	FAM3C_HUMAN	family with sequence similarity 3, member C						multicellular organismal development	cytoplasmic membrane-bounded vesicle|extracellular region	cytokine activity			kidney(1)|lung(8)	9	all_neural(327;0.117)					AATATGCTCCTAAAAAATCAAA	0.297													12	55	---	---	---	---					
EPHB6	2051	broad.mit.edu	37	7	142563321	142563322	+	Frame_Shift_Ins	INS	-	-	T	rs144712301	byFrequency	TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr7:142563321_142563322insT	ENST00000392957.2	+	8	1825_1826	c.1038_1039insT	c.(1036-1041)cctttgfs	p.L347fs	EPHB6_ENST00000442129.1_Frame_Shift_Ins_p.L347fs|EPHB6_ENST00000411471.2_Frame_Shift_Ins_p.L70fs	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	347	Cys-rich.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	p.V332I(1)		NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					CAGCAGCCCCCGTTTGCCCCTG	0.653													15	32	---	---	---	---					
TMEM139	135932	broad.mit.edu	37	7	142983845	142983845	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr7:142983845delC	ENST00000359333.3	+	3	1087	c.574delC	c.(574-576)ccfs	p.P193fs	TMEM139_ENST00000410004.1_Frame_Shift_Del_p.P193fs|AC073342.12_ENST00000446192.1_RNA|TMEM139_ENST00000471161.1_3'UTR|TMEM139_ENST00000409102.1_Frame_Shift_Del_p.P193fs|TMEM139_ENST00000409541.1_Frame_Shift_Del_p.P193fs|TMEM139_ENST00000409244.1_Frame_Shift_Del_p.P193fs	NM_001242775.1	NP_001229704.1	Q8IV31	TM139_HUMAN	transmembrane protein 139	193						integral to membrane				endometrium(1)|lung(4)|ovary(1)|prostate(1)	7	Melanoma(164;0.059)					TCTGACTCCACCCCCTGCCTA	0.532													20	135	---	---	---	---					
ATG9B	285973	broad.mit.edu	37	7	150720172	150720172	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr7:150720172delG	ENST00000605938.1	-	4	856	c.781delC	c.(781-783)tgfs	p.L261fs	ATG9B_ENST00000377974.2_Frame_Shift_Del_p.L261fs|ATG9B_ENST00000494791.1_5'UTR|ATG9B_ENST00000605952.1_Frame_Shift_Del_p.L261fs|ATG9B_ENST00000444312.1_5'UTR	NM_173681.5	NP_775952.4	Q674R7	ATG9B_HUMAN	autophagy related 9B	261					autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCATCTGACAGGGTCACTTTG	0.547													41	254	---	---	---	---					
BRF2	55290	broad.mit.edu	37	8	37702265	37702267	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr8:37702265_37702267delCTC	ENST00000220659.6	-	4	1121_1123	c.1001_1003delGAG	c.(1000-1005)gaa>g	p.GE336del	BRF2_ENST00000520601.1_3'UTR|GPR124_ENST00000315215.7_3'UTR	NM_018310.3	NP_060780.2	Q9HAW0	BRF2_HUMAN	BRF2, RNA polymerase III transcription initiation factor 50 kDa subunit	336					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter|transcription initiation, DNA-dependent	nucleoplasm	protein binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	12		Lung NSC(58;0.118)|all_lung(54;0.195)	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10)			ACCTCCCCTTCTCCTTGCCCCTG	0.626													8	41	---	---	---	---					
RP1	6101	broad.mit.edu	37	8	55533712	55533713	+	Frame_Shift_Ins	INS	-	-	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr8:55533712_55533713insT	ENST00000220676.1	+	2	334_335	c.186_187insT	c.(184-189)tcttgafs	p.*63fs		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	63	Doublecortin 1.				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)			CCTTTAAGTCCTTTGATGCTCT	0.574													15	94	---	---	---	---					
MMP16	4325	broad.mit.edu	37	8	89339378	89339378	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr8:89339378delC	ENST00000286614.6	-	1	339	c.58delG	c.(58-60)tgfs	p.V20fs	MMP16_ENST00000544227.1_5'UTR|RP11-586K2.1_ENST00000523254.1_RNA	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	20					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						AAGAAAAACACCCCCGAATGA	0.468													18	83	---	---	---	---					
TRPS1	7227	broad.mit.edu	37	8	116426269	116426270	+	Frame_Shift_Ins	INS	-	-	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr8:116426269_116426270insT	ENST00000395715.3	-	7	4443_4444	c.3866_3867insA	c.(3865-3867)aggfs	p.R1289fs	TRPS1_ENST00000220888.5_Frame_Shift_Ins_p.R1276fs|TRPS1_ENST00000519076.1_Frame_Shift_Ins_p.R1030fs|TRPS1_ENST00000520276.1_Frame_Shift_Ins_p.R1280fs	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	1276					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.N1289fs*>6(1)|p.N1276fs*>6(1)		autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TAGGTTTTCCATTTTTTTCCAC	0.381									Langer-Giedion syndrome				38	61	---	---	---	---					
CYC1	1537	broad.mit.edu	37	8	145150876	145150876	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr8:145150876delC	ENST00000318911.4	+	2	343	c.270delC	c.(268-270)cafs	p.H90fs		NM_001916.3	NP_001907.2	P08574	CY1_HUMAN	cytochrome c-1	90					respiratory electron transport chain|transport	cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	15	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-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;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGGAGCTGCACCCCCCCAGCT	0.667											OREG0019052	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	65	---	---	---	---					
CA9	768	broad.mit.edu	37	9	35676075	35676075	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr9:35676075delC	ENST00000378357.4	+	4	723	c.619delC	c.(619-621)ctfs	p.P208fs		NM_001216.2	NP_001207.2	Q16790	CAH9_HUMAN	carbonic anhydrase IX	208	Catalytic.				one-carbon metabolic process	integral to membrane|microvillus membrane|nucleolus	carbonate dehydratase activity|zinc ion binding			kidney(1)|large_intestine(3)|lung(5)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	17	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			ACTGACCCTGCCTCCTGGGCT	0.711													9	13	---	---	---	---					
FGD3	89846	broad.mit.edu	37	9	95738954	95738954	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr9:95738954delC	ENST00000375482.3	+	3	912	c.416delC	c.(415-417)acfs	p.T139fs	FGD3_ENST00000416701.2_Frame_Shift_Del_p.T139fs|FGD3_ENST00000468206.1_3'UTR|FGD3_ENST00000337352.6_Frame_Shift_Del_p.T139fs	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	139					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	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						TCTGAGAACACCCCCCAGAAG	0.662													8	44	---	---	---	---					
PALM2-AKAP2	445815	broad.mit.edu	37	9	112899233	112899234	+	Frame_Shift_Ins	INS	-	-	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr9:112899233_112899234insA	ENST00000374530.3	+	8	1589_1590	c.1409_1410insA	c.(1408-1410)gaafs	p.E470fs	PALM2-AKAP2_ENST00000302798.7_Frame_Shift_Ins_p.E470fs|AKAP2_ENST00000510514.5_Frame_Shift_Ins_p.E470fs|AKAP2_ENST00000434623.2_Frame_Shift_Ins_p.E328fs|AKAP2_ENST00000374525.1_Frame_Shift_Ins_p.E328fs|AKAP2_ENST00000259318.7_Frame_Shift_Ins_p.E239fs|AKAP2_ENST00000555236.1_Frame_Shift_Ins_p.E470fs	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN		239							enzyme binding	p.K471fs*69(1)|p.K329fs*69(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						GGCATTGCAGCAAAATGGTGGA	0.525													17	66	---	---	---	---					
FRMD4A	55691	broad.mit.edu	37	10	13696452	13696452	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr10:13696452delG	ENST00000357447.2	-	23	3382	c.3014delC	c.(3013-3015)cafs	p.P1005fs	FRMD4A_ENST00000378503.1_Frame_Shift_Del_p.P1005fs|FRMD4A_ENST00000358621.4_Frame_Shift_Del_p.P990fs	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	1005	Ser-rich.					cytoplasm|cytoskeleton	binding			breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						GGGGCTGCTTGGGGGGGTGGC	0.537													22	80	---	---	---	---					
A1CF	29974	broad.mit.edu	37	10	52575797	52575798	+	Frame_Shift_Ins	INS	-	-	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr10:52575797_52575798insT	ENST00000395489.2	-	11	1484_1485	c.1088_1089insA	c.(1087-1089)aagfs	p.K363fs	A1CF_ENST00000373995.3_Frame_Shift_Ins_p.K378fs|A1CF_ENST00000282641.2_Frame_Shift_Ins_p.K370fs|A1CF_ENST00000373993.1_Frame_Shift_Ins_p.K370fs|A1CF_ENST00000374001.1_Frame_Shift_Ins_p.K370fs|ASAH2B_ENST00000483649.1_3'UTR|A1CF_ENST00000493415.1_5'UTR|A1CF_ENST00000373997.3_Frame_Shift_Ins_p.K370fs|A1CF_ENST00000395495.1_Frame_Shift_Ins_p.K315fs	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	370	Required for nuclear localization.				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						TAATGGCTCTGTTGCTGAGATG	0.480													29	69	---	---	---	---					
MBL2	4153	broad.mit.edu	37	10	54528169	54528169	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr10:54528169delG	ENST00000373968.3	-	4	539	c.475delC	c.(475-477)agfs	p.Q159fs	MBL2_ENST00000493043.1_Intron	NM_000242.2	NP_000233.1	P11226	MBL2_HUMAN	mannose-binding lectin (protein C) 2, soluble	159	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						ACAGAGGCCTGGAACTTGACA	0.493													49	147	---	---	---	---					
TNKS2	80351	broad.mit.edu	37	10	93601946	93601946	+	Frame_Shift_Del	DEL	A	A	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr10:93601946delA	ENST00000371627.4	+	16	2236	c.1857delA	c.(1855-1857)acfs	p.T619fs		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	619					positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding	p.N622fs*29(1)		biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				CAGACCCTACAAAAAAAAACA	0.393													7	54	---	---	---	---					
SH3PXD2A	9644	broad.mit.edu	37	10	105362730	105362732	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr10:105362730_105362732delAGG	ENST00000369774.4	-	15	2519_2521	c.2243_2245delCCT	c.(2242-2247)tgt>t	p.SC748del	SH3PXD2A_ENST00000540321.1_In_Frame_Del_p.SC615del|SH3PXD2A_ENST00000538130.1_In_Frame_Del_p.SC583del|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000355946.2_In_Frame_Del_p.SC720del|SH3PXD2A_ENST00000315994.6_5'UTR			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	748					cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		GCCCGGGGACAGGAGGTCAGCCC	0.626													43	236	---	---	---	---					
C10orf137	26098	broad.mit.edu	37	10	127417621	127417621	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr10:127417621delC	ENST00000356792.4	+	7	1074	c.842delC	c.(841-843)gcfs	p.A281fs	C10orf137_ENST00000337623.3_Intron	NM_001202438.1	NP_001189367.1	Q3B7T1	EDRF1_HUMAN	chromosome 10 open reading frame 137	281					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				GTGGCCTCAGCCCCCAAAGAA	0.463													4	9	---	---	---	---					
MTG1	92170	broad.mit.edu	37	10	135211981	135211982	+	Frame_Shift_Ins	INS	-	-	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr10:135211981_135211982insT	ENST00000468317.2	+	5	595_596	c.340_341insT	c.(340-342)tttfs	p.F114fs	MTG1_ENST00000317502.6_Frame_Shift_Ins_p.F109fs|MTG1_ENST00000477902.2_Frame_Shift_Ins_p.F68fs																							AAAAAATGTCATTTTTACCAAC	0.386													15	101	---	---	---	---					
ART1	417	broad.mit.edu	37	11	3681478	3681478	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:3681478delC	ENST00000250693.1	+	3	830	c.729delC	c.(727-729)atfs	p.I243fs		NM_004314.2	NP_004305.2	P52961	NAR1_HUMAN	ADP-ribosyltransferase 1	243					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)	Becaplermin(DB00102)	AGGTGCTGATCCCCCCCTTTG	0.607													10	79	---	---	---	---					
TRIM3	10612	broad.mit.edu	37	11	6472177	6472178	+	Frame_Shift_Ins	INS	-	-	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:6472177_6472178insT	ENST00000525074.1	-	9	2208_2209	c.1814_1815insA	c.(1813-1815)aggfs	p.R605fs	TRIM3_ENST00000537602.1_Frame_Shift_Ins_p.R527fs|TRIM3_ENST00000536344.1_Frame_Shift_Ins_p.R486fs|TRIM3_ENST00000345851.3_Frame_Shift_Ins_p.R605fs|TRIM3_ENST00000359518.3_Frame_Shift_Ins_p.R605fs	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	605					nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCAGTTTGCCATTGGGCTGGAA	0.579													22	69	---	---	---	---					
MUC15	143662	broad.mit.edu	37	11	26587427	26587427	+	Frame_Shift_Del	DEL	T	T	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:26587427delT	ENST00000436318.2	-	2	193	c.60delA	c.(58-60)aafs	p.K20fs	MUC15_ENST00000455601.2_5'UTR|ANO3_ENST00000531568.1_Intron|MUC15_ENST00000527569.1_Frame_Shift_Del_p.K20fs|ANO3_ENST00000537978.1_Intron|ANO3_ENST00000256737.3_Intron|MUC15_ENST00000529533.1_Frame_Shift_Del_p.K20fs|ANO3_ENST00000525139.1_Intron|MUC15_ENST00000281268.8_Frame_Shift_Del_p.K20fs			Q8N387	MUC15_HUMAN	mucin 15, cell surface associated	0						extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						TTGGTATTGGTTTTTTTTTAA	0.289													9	36	---	---	---	---					
PHF21A	51317	broad.mit.edu	37	11	45955607	45955607	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:45955607delG	ENST00000257821.4	-	18	2581	c.1958delC	c.(1957-1959)ctfs	p.P653fs	PHF21A_ENST00000418153.2_Frame_Shift_Del_p.P652fs|PHF21A_ENST00000323180.6_Frame_Shift_Del_p.P606fs	NM_001101802.1	NP_001095272.1	Q96BD5	PF21A_HUMAN	PHD finger protein 21A	652	Required for transcriptional repression.				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						GGCATTGGCAGGGGGGGTGCA	0.617													9	51	---	---	---	---					
OR1S2	219958	broad.mit.edu	37	11	57970986	57970987	+	Frame_Shift_Ins	INS	-	-	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:57970986_57970987insA	ENST00000302592.6	-	1	666_667	c.667_668insT	c.(667-669)cttfs	p.L223fs		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				GAGTACAAAGGGGAAGATGATA	0.450													23	71	---	---	---	---					
MS4A6A	64231	broad.mit.edu	37	11	59947304	59947304	+	Frame_Shift_Del	DEL	A	A	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:59947304delA	ENST00000532169.1	-	4	795	c.282delT	c.(280-282)ttfs	p.F94fs	MS4A6A_ENST00000323961.3_Splice_Site_p.F95_splice|MS4A6A_ENST00000533023.1_Intron|MS4A6A_ENST00000529054.1_Splice_Site_p.F123_splice|MS4A6A_ENST00000529906.1_5'UTR|MS4A6A_ENST00000420732.2_Splice_Site_p.F95_splice|MS4A6A_ENST00000412309.2_Splice_Site_p.F123_splice|MS4A6A_ENST00000528851.1_Splice_Site_p.F95_splice|MS4A6A_ENST00000530839.1_Splice_Site_p.F95_splice|MS4A6A_ENST00000426738.2_Intron			Q9H2W1	M4A6A_HUMAN	membrane-spanning 4-domains, subfamily A, member 6A	94						integral to membrane	receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CTCTACTCACAAAAAAGGGTC	0.478													15	61	---	---	---	---					
SLC3A2	6520	broad.mit.edu	37	11	62649528	62649529	+	Frame_Shift_Ins	INS	-	-	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:62649528_62649529insA	ENST00000377892.1	+	6	1208_1209	c.984_985insA	c.(982-987)gcaaaafs	p.AK328fs	SLC3A2_ENST00000536981.1_5'UTR|SLC3A2_ENST00000535296.1_Frame_Shift_Ins_p.AK266fs|SLC3A2_ENST00000377890.2_Frame_Shift_Ins_p.AK297fs|SLC3A2_ENST00000377889.2_Frame_Shift_Ins_p.AK235fs|SLC3A2_ENST00000377891.2_Frame_Shift_Ins_p.AK298fs|SLC3A2_ENST00000538682.1_3'UTR|SLC3A2_ENST00000338663.7_Frame_Shift_Ins_p.AK196fs			P08195	4F2_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 2	297					blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport	apical plasma membrane|cell surface|integral to membrane|melanosome	calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding	p.K331fs*31(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						TGCAATCGGCTAAAAAAAAGAG	0.460													13	128	---	---	---	---					
CHRM1	1128	broad.mit.edu	37	11	62677830	62677831	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:62677830_62677831insC	ENST00000306960.3	-	2	1283_1284	c.742_743insG	c.(742-744)tgafs	p.*248fs	AP000438.2_ENST00000543624.1_RNA	NM_000738.2	NP_000729.2	P11229	ACM1_HUMAN	cholinergic receptor, muscarinic 1	248					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)	TGAGCCCTCAGCCCCTGGCTGA	0.668													18	79	---	---	---	---					
LTBP3	4054	broad.mit.edu	37	11	65320986	65320986	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:65320986delG	ENST00000301873.5	-	4	1148	c.880delC	c.(880-882)tcfs	p.L294fs	LTBP3_ENST00000536982.1_Intron|LTBP3_ENST00000322147.4_Frame_Shift_Del_p.L294fs	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	294	TB 1.					extracellular region	calcium ion binding|growth factor binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						AGGCCGGGGAGGGGGTTGCTG	0.662													8	40	---	---	---	---					
RELA	5970	broad.mit.edu	37	11	65426244	65426245	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:65426244_65426245delAG	ENST00000525693.1	-	7	670_671	c.608_609delCT	c.(607-609)tfs	p.S203fs	RELA_ENST00000308639.9_Frame_Shift_Del_p.S200fs|RELA_ENST00000406246.3_Frame_Shift_Del_p.S203fs			Q04206	TF65_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog A	203	RHD.				anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to interleukin-1|response to UV-B|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|transcription factor complex	activating transcription factor binding|chromatin binding|identical protein binding|NF-kappaB binding|phosphate binding|protein kinase binding|protein N-terminus binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						GGCAGCTGCCAGAGTTTCGGTT	0.584													26	157	---	---	---	---					
SNX32	254122	broad.mit.edu	37	11	65620007	65620008	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:65620007_65620008delCT	ENST00000308342.6	+	10	1322_1323	c.897_898delCT	c.(895-900)gacafs	p.DS299fs		NM_152760.2	NP_689973.2	Q86XE0	SNX32_HUMAN	sorting nexin 32	299					cell communication|protein transport		phosphatidylinositol binding			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				READ - Rectum adenocarcinoma(159;0.171)		ACATGCGTGACTCACAGGCAGC	0.629													12	71	---	---	---	---					
DRAP1	10589	broad.mit.edu	37	11	65688886	65688888	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:65688886_65688888delGAA	ENST00000312515.2	+	7	843_845	c.598_600delGAA	c.(598-600)del	p.E201del	DRAP1_ENST00000527119.1_In_Frame_Del_p.E157del|DRAP1_ENST00000532933.1_In_Frame_Del_p.E181del|DRAP1_ENST00000376991.2_In_Frame_Del_p.E208del	NM_006442.3	NP_006433.2	Q14919	NC2A_HUMAN	DR1-associated protein 1 (negative cofactor 2 alpha)	201					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(1)	5				READ - Rectum adenocarcinoma(159;0.166)		TGAAGAGGACGAAGAAGATTACG	0.601													9	214	---	---	---	---					
CCDC87	55231	broad.mit.edu	37	11	66359230	66359230	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:66359230delG	ENST00000333861.3	-	1	1324	c.1257delC	c.(1255-1257)ccfs	p.P419fs		NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	419										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GAAAGGATTTGGGGGGCTGGG	0.582													26	82	---	---	---	---					
PPFIA1	8500	broad.mit.edu	37	11	70218585	70218586	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:70218585_70218586delAC	ENST00000253925.7	+	23	3259_3260	c.3044_3045delAC	c.(3043-3045)afs	p.N1015fs	PPFIA1_ENST00000389547.3_Frame_Shift_Del_p.N1015fs|AP000487.5_ENST00000530690.1_RNA|PPFIA1_ENST00000530548.1_3'UTR	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	1015	SAM 2.				cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			CCAAATAGAAACAGTTTCCAGT	0.337													7	85	---	---	---	---					
ATG16L2	89849	broad.mit.edu	37	11	72535842	72535843	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:72535842_72535843delTG	ENST00000321297.5	+	9	1089_1090	c.951_952delTG	c.(949-954)cctgfs	p.PV317fs	ATG16L2_ENST00000534905.1_Intron	NM_033388.1	NP_203746.1	Q8NAA4	A16L2_HUMAN	autophagy related 16-like 2 (S. cerevisiae)	317					autophagy|protein transport	cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	14			BRCA - Breast invasive adenocarcinoma(5;2.73e-06)			AGATCATCCCTGTGTGTGTGGC	0.594													12	71	---	---	---	---					
RPS3	6188	broad.mit.edu	37	11	75113470	75113472	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:75113470_75113472delAGG	ENST00000531188.1	+	4	392_394	c.330_332delAGG	c.(328-333)cta>ct	p.LG110del	RPS3_ENST00000278572.6_In_Frame_Del_p.LG126del|RPS3_ENST00000526608.1_In_Frame_Del_p.LG98del|RPS3_ENST00000530164.1_In_Frame_Del_p.LG110del|RPS3_ENST00000524851.1_In_Frame_Del_p.LG110del|RPS3_ENST00000534440.1_Intron|RPS3_ENST00000527446.1_In_Frame_Del_p.LG110del|RPS3_ENST00000529285.1_3'UTR	NM_001005.4|NM_001260506.1|NM_001260507.1	NP_000996.2|NP_001247435.1|NP_001247436.1	P23396	RS3_HUMAN	ribosomal protein S3	110					activation of caspase activity|endocrine pancreas development|induction of apoptosis|negative regulation of DNA repair|negative regulation of NF-kappaB transcription factor activity|response to DNA damage stimulus|translational elongation|translational initiation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleus|ruffle membrane	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|iron-sulfur cluster binding|mRNA binding|NF-kappaB binding|protein kinase binding|structural constituent of ribosome			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	6						ACAAACTCCTAGGAGGGCTTGCT	0.463													34	98	---	---	---	---					
PCF11	51585	broad.mit.edu	37	11	82877539	82877540	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:82877539_82877540delTT	ENST00000298281.4	+	5	2052_2053	c.1600_1601delTT	c.(1600-1602)tfs	p.F534fs		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	534					mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						TATGGAAGAGTTTACACCACCT	0.455													26	144	---	---	---	---					
C11orf88	399949	broad.mit.edu	37	11	111385572	111385572	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:111385572delG	ENST00000529167.1	+	1	63	c.63delG	c.(61-63)ccfs	p.P21fs	C11orf88_ENST00000332814.6_Frame_Shift_Del_p.P21fs|RP11-794P6.6_ENST00000530283.1_RNA|C11orf88_ENST00000375618.4_Frame_Shift_Del_p.P21fs			Q6PI97	CK088_HUMAN	chromosome 11 open reading frame 88	21								p.P21P(2)		endometrium(1)|large_intestine(3)|lung(2)	6						TGTGCCCCCCGGGATTACTGG	0.572											OREG0021329	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	33	120	---	---	---	---					
APOA5	116519	broad.mit.edu	37	11	116661044	116661044	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:116661044delG	ENST00000542499.1	-	4	973	c.901delC	c.(901-903)gcfs	p.R301fs	APOA5_ENST00000227665.4_Frame_Shift_Del_p.R301fs	NM_001166598.1|NM_052968.4	NP_001160070.1|NP_443200.2	Q6Q788	APOA5_HUMAN	apolipoprotein A-V	301					acylglycerol homeostasis|cholesterol homeostasis|lipid transport|lipoprotein metabolic process|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor-mediated endocytosis|positive regulation of triglyceride catabolic process|positive regulation of very-low-density lipoprotein particle remodeling|tissue regeneration|triglyceride catabolic process|triglyceride homeostasis	chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	enzyme binding|heparin binding|lipoprotein lipase activator activity|low-density lipoprotein particle receptor binding|phosphatidylcholine binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	14	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)		TCGATGGCGCGAGTGAAGGCA	0.647													40	119	---	---	---	---					
PCSK7	9159	broad.mit.edu	37	11	117079625	117079626	+	Frame_Shift_Ins	INS	-	-	G	rs145981335	by1000genomes	TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:117079625_117079626insG	ENST00000320934.3	-	13	2308_2309	c.1678_1679insC	c.(1678-1680)cagfs	p.Q560fs	PCSK7_ENST00000540028.1_Frame_Shift_Ins_p.Q201fs	NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	560	Homo B/P.				peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		GTCCATGCTGCGGGGGGCGCCG	0.594			T	IGH@	MLCLS								7	13	---	---	---	---					
UPK2	7379	broad.mit.edu	37	11	118827670	118827670	+	Frame_Shift_Del	DEL	C	C	-	rs150164163		TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:118827670delC	ENST00000264031.2	+	2	189	c.154delC	c.(154-156)acfs	p.H52fs	UPK2_ENST00000534788.1_3'UTR	NM_006760.3	NP_006751.1	O00526	UPK2_HUMAN	uroplakin 2	52					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)		GCCCCCCTGTCACCTCACAGG	0.597											OREG0021391	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	103	---	---	---	---					
DPAGT1	1798	broad.mit.edu	37	11	118969151	118969151	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:118969151delG	ENST00000409993.2	-	7	2241	c.690delC	c.(688-690)ccfs	p.P230fs	DPAGT1_ENST00000354202.4_Frame_Shift_Del_p.P230fs|DPAGT1_ENST00000432443.2_Frame_Shift_Del_p.P123fs			Q9H3H5	GPT_HUMAN	dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)	230					dolichol biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein oligomerization	integral to endoplasmic reticulum membrane|microsome	phospho-N-acetylmuramoyl-pentapeptide-transferase activity|transferase activity, transferring glycosyl groups|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity	p.?(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		TGAAAAAAAAGGGTATCATGA	0.438													12	198	---	---	---	---					
CCDC15	80071	broad.mit.edu	37	11	124857672	124857673	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:124857672_124857673insC	ENST00000529051.1	+	8	1809_1810	c.1550_1551insC	c.(1549-1551)cccfs	p.P517fs	CCDC15_ENST00000344762.5_Frame_Shift_Ins_p.P517fs			Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	517						centrosome				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		CAGCATGTTCTCCCCAAAGACC	0.411													44	349	---	---	---	---					
JAM3	83700	broad.mit.edu	37	11	134018468	134018468	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr11:134018468delG	ENST00000299106.4	+	7	898	c.739delG	c.(739-741)ggfs	p.G248fs	JAM3_ENST00000529443.2_Frame_Shift_Del_p.G293fs|JAM3_ENST00000441717.3_Frame_Shift_Del_p.G197fs			Q9BX67	JAM3_HUMAN	junctional adhesion molecule 3	248					angiogenesis|blood coagulation|regulation of neutrophil chemotaxis	cell-cell contact zone|desmosome|extracellular space|integral to membrane	integrin binding			breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)	10	all_hematologic(175;0.127)	all_cancers(12;1.06e-21)|all_epithelial(12;3.37e-16)|all_lung(97;7.03e-06)|Lung NSC(97;1.67e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0506)|Esophageal squamous(93;0.0566)		Epithelial(10;1.55e-09)|BRCA - Breast invasive adenocarcinoma(10;1.35e-08)|all cancers(11;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00402)|Lung(977;0.245)		CGGAATTATTGGGGGGGTTCT	0.483													19	105	---	---	---	---					
CLEC4A	50856	broad.mit.edu	37	12	8281937	8281937	+	Frame_Shift_Del	DEL	A	A	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr12:8281937delA	ENST00000229332.5	+	3	524	c.277delA	c.(277-279)aafs	p.K94fs	CLEC4A_ENST00000352620.3_Intron|CLEC4A_ENST00000345999.3_Intron|CLEC4A_ENST00000360500.3_Frame_Shift_Del_p.K55fs	NM_016184.3|NM_194447.2|NM_194450.2	NP_057268.1|NP_919429.2|NP_919432.1	Q9UMR7	CLC4A_HUMAN	C-type lectin domain family 4, member A	94					cell adhesion|cell surface receptor linked signaling pathway|innate immune response	integral to plasma membrane	sugar binding|transmembrane receptor activity			cervix(1)|endometrium(3)|large_intestine(2)|lung(4)|prostate(1)	11				Kidney(36;0.0915)		GGAGTGTGTGAAAAAAAATAT	0.333													8	37	---	---	---	---					
GRIN2B	2904	broad.mit.edu	37	12	14019043	14019044	+	Frame_Shift_Ins	INS	-	-	G	rs77738206		TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr12:14019043_14019044insG	ENST00000279593.3	-	2	308_309	c.99_100insC	c.(97-102)ccgcatfs	p.H34fs		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	34					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|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)	ATGCCAATGCTGGGGGGGCTCT	0.589													7	55	---	---	---	---					
BCAT1	586	broad.mit.edu	37	12	25034329	25034329	+	Frame_Shift_Del	DEL	T	T	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr12:25034329delT	ENST00000261192.7	-	4	822	c.296delA	c.(295-297)agfs	p.K99fs	BCAT1_ENST00000539780.1_Intron|BCAT1_ENST00000538118.1_Frame_Shift_Del_p.K98fs|BCAT1_ENST00000342945.5_Intron|BCAT1_ENST00000539282.1_Frame_Shift_Del_p.K111fs|BCAT1_ENST00000544418.1_5'UTR	NM_001178091.1|NM_005504.6	NP_001171562.1|NP_005495.2	P54687	BCAT1_HUMAN	branched chain amino-acid transaminase 1, cytosolic	99					branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation|G1/S transition of mitotic cell cycle	cytosol	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			breast(1)|large_intestine(1)|lung(3)|prostate(2)	7	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)				Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114)	TCGAAATGCCTTCAATCCTTC	0.418													14	34	---	---	---	---					
CPNE8	144402	broad.mit.edu	37	12	39118672	39118673	+	Frame_Shift_Ins	INS	-	-	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr12:39118672_39118673insT	ENST00000331366.5	-	12	923_924	c.827_828insA	c.(826-828)aaafs	p.K276fs	CPNE8_ENST00000360449.3_Frame_Shift_Ins_p.K264fs	NM_153634.2	NP_705898.1	Q86YQ8	CPNE8_HUMAN	copine VIII	276										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)				TATATTTTTTCTTTTTTCCTTT	0.228													26	45	---	---	---	---					
KIF21A	55605	broad.mit.edu	37	12	39763594	39763594	+	Frame_Shift_Del	DEL	T	T	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr12:39763594delT	ENST00000395670.3	-	3	806	c.387delA	c.(385-387)aafs	p.K129fs	KIF21A_ENST00000541463.2_Frame_Shift_Del_p.K129fs|KIF21A_ENST00000361961.3_Frame_Shift_Del_p.K129fs|KIF21A_ENST00000361418.5_Frame_Shift_Del_p.K129fs|KIF21A_ENST00000544797.2_Frame_Shift_Del_p.K129fs			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	129	Kinesin-motor.				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)				TTGCTATGTGTTTTTTTTCTT	0.318													9	47	---	---	---	---					
HDAC7	51564	broad.mit.edu	37	12	48189044	48189045	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr12:48189044_48189045insG	ENST00000080059.7	-	11	1205_1206	c.1206_1207insC	c.(1204-1209)ccgtgcfs	p.C403fs	HDAC7_ENST00000380610.4_Frame_Shift_Ins_p.C420fs|HDAC7_ENST00000427332.2_Frame_Shift_Ins_p.C364fs|HDAC7_ENST00000354334.3_Frame_Shift_Ins_p.C366fs|HDAC7_ENST00000552960.1_Frame_Shift_Ins_p.C386fs	NM_015401.3	NP_056216.2	Q8WUI4	HDAC7_HUMAN	histone deacetylase 7	364	Transcription repression 2 (By similarity).				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	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-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)		GCGGTGGCACTGGGGGGCAGGG	0.658													11	87	---	---	---	---					
FAM186B	84070	broad.mit.edu	37	12	49993443	49993445	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr12:49993443_49993445delCTT	ENST00000544141.1	-	4	2307_2309	c.1708_1710delAAG	c.(1708-1710)del	p.K570del	FAM186B_ENST00000257894.2_In_Frame_Del_p.K660del|FAM186B_ENST00000551047.1_Intron			Q8IYM0	F186B_HUMAN	family with sequence similarity 186, member B	660						protein complex				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TGTGGTACACCTTCTTCTTAATA	0.542													15	52	---	---	---	---					
AGAP2	116986	broad.mit.edu	37	12	58128116	58128116	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr12:58128116delC	ENST00000257897.3	-	4	464	c.379delG	c.(379-381)cafs	p.A127fs	AGAP2_ENST00000547588.1_Frame_Shift_Del_p.A463fs	NM_014770.3	NP_055585.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	463					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						GCATCAGGTGCCCCAGCTTCC	0.567													20	57	---	---	---	---					
IL22	50616	broad.mit.edu	37	12	68646283	68646283	+	Splice_Site	DEL	C	C	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr12:68646283delC	ENST00000538666.1	-	4	467		c.e4+1		IL22_ENST00000328087.4_Splice_Site			Q9GZX6	IL22_HUMAN	interleukin 22						acute-phase response	extracellular space	cytokine activity|interleukin-22 receptor binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	14		Myeloproliferative disorder(1001;0.0255)	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;5.06e-05)|BRCA - Breast invasive adenocarcinoma(357;0.00104)		GCTGAACTTACACATGTGCTT	0.552													19	37	---	---	---	---					
LIN7A	8825	broad.mit.edu	37	12	81283065	81283066	+	Frame_Shift_Ins	INS	-	-	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr12:81283065_81283066insT	ENST00000552864.1	-	2	367_368	c.165_166insA	c.(163-168)aatgctfs	p.NA55fs		NM_004664.2	NP_004655.1	O14910	LIN7A_HUMAN	lin-7 homolog A (C. elegans)	55	L27.				exocytosis|protein complex assembly|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	L27 domain binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2)	15						CTCTGAAGCACTTTTTTGAGGG	0.351													7	43	---	---	---	---					
ZCCHC8	55596	broad.mit.edu	37	12	122966542	122966547	+	In_Frame_Del	DEL	GTGGTA	GTGGTA	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr12:122966542_122966547delGTGGTA	ENST00000543897.1	-	7	2461_2466	c.106_111delTACCAC	c.(106-111)del	p.YH36del	ZCCHC8_ENST00000336229.4_In_Frame_Del_p.YH274del|ZCCHC8_ENST00000536306.1_In_Frame_Del_p.YH36del			Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	274						catalytic step 2 spliceosome	nucleic acid binding|protein binding|zinc ion binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		CTTCTTCTGCGTGGTATCGCTGCTGG	0.393													12	19	---	---	---	---					
CRYL1	51084	broad.mit.edu	37	13	21006393	21006393	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr13:21006393delG	ENST00000382812.1	-	6	643	c.415delC	c.(415-417)acfs	p.H139fs	CRYL1_ENST00000480748.1_5'UTR|CRYL1_ENST00000298248.7_Frame_Shift_Del_p.H161fs			Q9Y2S2	CRYL1_HUMAN	crystallin, lambda 1	161					fatty acid metabolic process	cytosol	3-hydroxyacyl-CoA dehydrogenase activity|L-gulonate 3-dehydrogenase activity|NAD+ binding|protein homodimerization activity			NS(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(29;2.27e-23)|all_epithelial(30;1.69e-19)|all_lung(29;8.29e-18)|Lung SC(185;0.0262)|Ovarian(182;0.0827)|Hepatocellular(188;0.244)		all cancers(112;6.6e-05)|Epithelial(112;0.00178)|OV - Ovarian serous cystadenocarcinoma(117;0.0169)|Lung(94;0.0215)|GBM - Glioblastoma multiforme(144;0.0402)|LUSC - Lung squamous cell carcinoma(192;0.061)		GTCTCCGGGTGGGGGACCAGC	0.592													23	47	---	---	---	---					
RXFP2	122042	broad.mit.edu	37	13	32367143	32367144	+	Frame_Shift_Ins	INS	-	-	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr13:32367143_32367144insA	ENST00000298386.2	+	16	1775_1776	c.1704_1705insA	c.(1702-1707)ggaaaafs	p.GK568fs	RXFP2_ENST00000380314.1_Frame_Shift_Ins_p.GK544fs	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	568						integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		ACTTTTATGGGAAAAATGGAGT	0.342													7	21	---	---	---	---					
ARHGEF40	55701	broad.mit.edu	37	14	21553011	21553013	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr14:21553011_21553013delCTC	ENST00000298694.4	+	18	4016_4018	c.3889_3891delCTC	c.(3889-3891)del	p.L1299del	ARHGEF40_ENST00000298693.3_In_Frame_Del_p.L1299del			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	1299	PH.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						CTTCGAGCATCTCCTCCTGTTCA	0.527													16	159	---	---	---	---					
INSM2	84684	broad.mit.edu	37	14	36004969	36004969	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr14:36004969delC	ENST00000307169.3	+	1	1722	c.1511delC	c.(1510-1512)ggfs	p.A504fs		NM_032594.3	NP_115983.3	Q96T92	INSM2_HUMAN	insulinoma-associated 2	504					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	10	Breast(36;0.122)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(9;2.16e-07)|Lung(238;2.63e-07)|Epithelial(34;0.00145)|all cancers(34;0.00452)	GBM - Glioblastoma multiforme(112;0.0223)		CCCGCTCTGGCGGGGGCTCCT	0.622													27	54	---	---	---	---					
C14orf28	122525	broad.mit.edu	37	14	45369723	45369724	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr14:45369723_45369724insG	ENST00000325192.3	+	2	360_361	c.85_86insG	c.(85-87)gggfs	p.G29fs	RP11-857B24.5_ENST00000555157.1_RNA|C14orf28_ENST00000557112.1_Frame_Shift_Ins_p.G29fs	NM_001017923.1	NP_001017923.1	Q4W4Y0	CN028_HUMAN	chromosome 14 open reading frame 28	29										endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(2)	11						TGTTCTTCCTTGGGGGGGTGTT	0.376													10	97	---	---	---	---					
PLEKHH1	57475	broad.mit.edu	37	14	68053849	68053850	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr14:68053849_68053850insC	ENST00000329153.5	+	29	4124_4125	c.3992_3993insC	c.(3991-3993)accfs	p.T1331fs	PLEKHH1_ENST00000417684.2_Frame_Shift_Ins_p.DP272fs	NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	1331	FERM.					cytoskeleton	binding			endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		ACAACTGTGAACCCCCCCACCA	0.515													7	51	---	---	---	---					
ADAM20	8748	broad.mit.edu	37	14	70991123	70991123	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr14:70991123delC	ENST00000256389.3	-	2	746	c.502delG	c.(502-504)tcfs	p.V168fs	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	118					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		GACTCAGGGACCCCCTCCACA	0.493													16	194	---	---	---	---					
MED6	10001	broad.mit.edu	37	14	71051554	71051555	+	Frame_Shift_Ins	INS	-	-	G	rs145634622	byFrequency	TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr14:71051554_71051555insG	ENST00000256379.5	-	8	745_746	c.716_717insC	c.(715-717)cgafs	p.R239fs	MED6_ENST00000554963.1_Frame_Shift_Ins_p.R239fs|MED6_ENST00000430055.2_Frame_Shift_Ins_p.R246fs|MED6_ENST00000440435.2_3'UTR	NM_005466.2	NP_005457.2	O75586	MED6_HUMAN	mediator complex subunit 6	239					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex	transcription coactivator activity	p.E240fs*1(1)		large_intestine(2)|lung(2)|skin(1)	5				all cancers(60;0.00315)|BRCA - Breast invasive adenocarcinoma(234;0.00685)|OV - Ovarian serous cystadenocarcinoma(108;0.0352)		TCCGTTTTTCAGGGGGGCCTTT	0.450													29	290	---	---	---	---					
SEL1L	6400	broad.mit.edu	37	14	81993164	81993164	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr14:81993164delC	ENST00000336735.4	-	3	369	c.253delG	c.(253-255)aafs	p.E85fs	SEL1L_ENST00000555824.1_Frame_Shift_Del_p.E85fs	NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like (C. elegans)	85	Interaction with ERLEC1, OS9 and SYVN1.				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding	p.E85K(1)		breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28				BRCA - Breast invasive adenocarcinoma(234;0.0299)		GTGACACTTTCCCCCTCTTGG	0.418													7	244	---	---	---	---					
MGA	23269	broad.mit.edu	37	15	42021442	42021442	+	Frame_Shift_Del	DEL	A	A	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr15:42021442delA	ENST00000219905.7	+	11	3919	c.3738delA	c.(3736-3738)cgfs	p.R1246fs	MGA_ENST00000570161.1_Frame_Shift_Del_p.R1246fs|MGA_ENST00000566586.1_Frame_Shift_Del_p.R1246fs|MGA_ENST00000545763.1_Frame_Shift_Del_p.R1246fs|MGA_ENST00000389936.4_Frame_Shift_Del_p.R1246fs	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	1246						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)		TATATGAGCGAAAAAAAGAGG	0.413													13	13	---	---	---	---					
SPATA8	145946	broad.mit.edu	37	15	97326889	97326890	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr15:97326889_97326890insC	ENST00000328504.3	+	1	271_272	c.4_5insC	c.(4-6)cccfs	p.P2fs	SPATA8_ENST00000558553.1_Intron	NM_173499.3	NP_775770.1	Q6RVD6	SPAT8_HUMAN	spermatogenesis associated 8	2										large_intestine(4)|lung(8)|ovary(1)|skin(3)	16	Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468)		OV - Ovarian serous cystadenocarcinoma(32;0.0718)			ATGAGGAATGGCCCCGGCTGGG	0.569													11	75	---	---	---	---					
SRL	6345	broad.mit.edu	37	16	4242173	4242173	+	Frame_Shift_Del	DEL	T	T	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr16:4242173delT	ENST00000399609.3	-	6	1415	c.1403delA	c.(1402-1404)atfs	p.N468fs	SRL_ENST00000537996.1_Frame_Shift_Del_p.N426fs	NM_001098814.1	NP_001092284.1	Q86TD4	SRCA_HUMAN	sarcalumenin	927	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						CCTGTAGCGATTTTTTGGTGT	0.527													13	184	---	---	---	---					
NMRAL1	57407	broad.mit.edu	37	16	4516201	4516202	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr16:4516201_4516202delGA	ENST00000574733.1	-	4	1210_1211	c.481_482delTC	c.(481-483)cfs	p.S161fs	NMRAL1_ENST00000572391.1_5'UTR|NMRAL1_ENST00000574425.1_Frame_Shift_Del_p.S161fs|NMRAL1_ENST00000404295.3_Frame_Shift_Del_p.S161fs|NMRAL1_ENST00000283429.6_Frame_Shift_Del_p.S161fs			Q9HBL8	NMRL1_HUMAN	NmrA-like family domain containing 1	161	Interaction with ASS1.					nucleus|perinuclear region of cytoplasm	binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|prostate(2)|stomach(1)	15						CAAGAAGTGGGAGAGGAGGTTC	0.569													22	89	---	---	---	---					
UBN1	29855	broad.mit.edu	37	16	4924785	4924785	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr16:4924785delG	ENST00000396658.4	+	14	3077	c.2374delG	c.(2374-2376)ggfs	p.G792fs	UBN1_ENST00000545171.1_Frame_Shift_Del_p.G792fs|UBN1_ENST00000262376.6_Frame_Shift_Del_p.G792fs|UBN1_ENST00000590769.1_Frame_Shift_Del_p.G792fs	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	792					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						GACGTCTCACGGGCCCCAAGT	0.572													16	217	---	---	---	---					
DCTN5	84516	broad.mit.edu	37	16	23652886	23652888	+	In_Frame_Del	DEL	ACA	ACA	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr16:23652886_23652888delACA	ENST00000300087.2	+	1	174_176	c.23_25delACA	c.(22-27)tac>t	p.YN8del	DCTN5_ENST00000568272.1_In_Frame_Del_p.YN8del|DCTN5_ENST00000563998.1_In_Frame_Del_p.YN8del|DCTN5_ENST00000568589.1_In_Frame_Del_p.YN8del	NM_001199743.1|NM_032486.3	NP_001186672.1|NP_115875.1	Q9BTE1	DCTN5_HUMAN	dynactin 5 (p25)	8						centrosome	transferase activity			endometrium(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	10				GBM - Glioblastoma multiforme(48;0.0156)		GAGCTGCTCTACAACAAGTCTGA	0.596													12	77	---	---	---	---					
ERN2	10595	broad.mit.edu	37	16	23711986	23711986	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr16:23711986delG	ENST00000256797.4	-	13	1711	c.1543delC	c.(1543-1545)tgfs	p.L515fs	ERN2_ENST00000457008.2_Frame_Shift_Del_p.L415fs	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2	467					apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		GCAGGTGCCAGGGGGGTCTCC	0.627													24	130	---	---	---	---					
PRSS36	146547	broad.mit.edu	37	16	31151663	31151664	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr16:31151663_31151664insG	ENST00000268281.4	-	14	2298_2299	c.2240_2241insC	c.(2239-2241)cggfs	p.R747fs	PRSS36_ENST00000569305.1_Frame_Shift_Ins_p.R742fs|PRSS36_ENST00000418068.2_Intron	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN	protease, serine, 36	747	Peptidase S1 3.				proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						AGAGGGTTCCAGGGGGCAGGAT	0.589													21	93	---	---	---	---					
CETP	1071	broad.mit.edu	37	16	57005247	57005249	+	In_Frame_Del	DEL	CAA	CAA	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr16:57005247_57005249delCAA	ENST00000200676.3	+	7	742_744	c.612_614delCAA	c.(610-615)atc>at	p.IN204del	CETP_ENST00000566128.1_In_Frame_Del_p.IN139del|CETP_ENST00000569082.1_3'UTR|CETP_ENST00000379780.2_In_Frame_Del_p.IN204del	NM_000078.2	NP_000069.2	P11597	CETP_HUMAN	cholesteryl ester transfer protein, plasma	204					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						GCAAAGAGATCAACGTCATCTCT	0.562													16	93	---	---	---	---					
TUBB3	10381	broad.mit.edu	37	16	90002206	90002207	+	Frame_Shift_Ins	INS	-	-	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr16:90002206_90002207insA	ENST00000304984.5	+	3	3426_3427	c.1131_1132insA	c.(1129-1134)ccagtgfs	p.V378fs	TUBB3_ENST00000556922.1_Frame_Shift_Ins_p.V797fs|TUBB3_ENST00000555576.1_Intron|TUBB3_ENST00000554444.1_Frame_Shift_Ins_p.V378fs|TUBB3_ENST00000315491.7_Frame_Shift_Ins_p.V450fs			Q13509	TBB3_HUMAN	tubulin, beta 3 class III	450					'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		CCCAGGGCCCCAAGTGAAGCTG	0.658													10	10	---	---	---	---					
SGSM2	9905	broad.mit.edu	37	17	2278813	2278813	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr17:2278813delC	ENST00000268989.3	+	18	2305	c.2128delC	c.(2128-2130)ccfs	p.P711fs	SGSM2_ENST00000574563.1_Frame_Shift_Del_p.P666fs|RP1-59D14.5_ENST00000574290.1_RNA|SGSM2_ENST00000426855.2_Frame_Shift_Del_p.P666fs	NM_014853.2	NP_055668.2	O43147	SGSM2_HUMAN	small G protein signaling modulator 2	666	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		TGATCTGGAACCCCCGGAGCC	0.652													11	41	---	---	---	---					
ELP5	23587	broad.mit.edu	37	17	7162192	7162195	+	Frame_Shift_Del	DEL	AGAG	AGAG	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr17:7162192_7162195delAGAG	ENST00000396628.2	+	7	1000_1003	c.783_786delAGAG	c.(781-786)aafs	p.KE261fs	ELP5_ENST00000396627.2_Frame_Shift_Del_p.KE261fs|RP1-4G17.5_ENST00000577138.1_Intron|ELP5_ENST00000354429.2_Frame_Shift_Del_p.KE261fs|ELP5_ENST00000356683.2_3'UTR|ELP5_ENST00000574993.1_3'UTR	NM_203414.1	NP_981959.1			elongator acetyltransferase complex subunit 5									p.E262Q(1)									TGTCCAAGAAAGAGAGAGAAGCCA	0.515													15	57	---	---	---	---					
EIF5A	1984	broad.mit.edu	37	17	7214920	7214921	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr17:7214920_7214921delAG	ENST00000336458.8	+	5	827_828	c.426_427delAG	c.(424-429)acagfs	p.TE142fs	EIF5A_ENST00000571955.1_Frame_Shift_Del_p.TE142fs|EIF5A_ENST00000572815.1_Frame_Shift_Del_p.TE174fs|EIF5A_ENST00000336452.7_Frame_Shift_Del_p.TE172fs|EIF5A_ENST00000573542.1_Frame_Shift_Del_p.TE142fs|EIF5A_ENST00000576930.1_Frame_Shift_Del_p.TE142fs|GPS2_ENST00000391950.3_Intron|EIF5A_ENST00000419711.2_Frame_Shift_Del_p.TE142fs|EIF5A_ENST00000416016.2_Frame_Shift_Del_p.TE142fs	NM_001970.4	NP_001961.1	P63241	IF5A1_HUMAN	eukaryotic translation initiation factor 5A	142					induction of apoptosis|mRNA export from nucleus|peptidyl-lysine modification to hypusine|positive regulation of cell proliferation|positive regulation of translational elongation|positive regulation of translational termination|post-translational protein modification|protein export from nucleus|translational frameshifting|transmembrane transport	annulate lamellae|cytosol|endoplasmic reticulum membrane|nuclear pore	protein N-terminus binding|ribosome binding|translation elongation factor activity|U6 snRNA binding			endometrium(2)|kidney(1)|large_intestine(2)|urinary_tract(1)	6						CTGCCATGACAGAGGAGGCAGC	0.510													14	64	---	---	---	---					
MYO15A	51168	broad.mit.edu	37	17	18023293	18023293	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr17:18023293delC	ENST00000205890.5	+	2	1517	c.1179delC	c.(1177-1179)tafs	p.Y393fs		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	393	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP 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)					AGGCCATCTACCCCCCCGAGG	0.622													9	86	---	---	---	---					
SUPT6H	6830	broad.mit.edu	37	17	27020724	27020729	+	In_Frame_Del	DEL	ACTTTG	ACTTTG	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr17:27020724_27020729delACTTTG	ENST00000314616.6	+	28	3927_3932	c.3644_3649delACTTTG	c.(3643-3651)cac>c	p.HFD1215del	SUPT6H_ENST00000347486.4_In_Frame_Del_p.HFD1215del	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1215	S1 motif.				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|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)					GTGTGGAACCACTTTGACAGCGGTTC	0.495													28	90	---	---	---	---					
KRT24	192666	broad.mit.edu	37	17	38859835	38859836	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr17:38859835_38859836insC	ENST00000264651.2	-	1	166_167	c.110_111insG	c.(109-111)gagfs	p.E37fs		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	37	Gly-rich.|Head.					cytoplasm|intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				GGGCCGAGCTGCCCCCCAGACC	0.658													17	131	---	---	---	---					
WNK4	65266	broad.mit.edu	37	17	40939870	40939870	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr17:40939870delG	ENST00000246914.5	+	8	1837	c.1816delG	c.(1816-1818)ggfs	p.G607fs	WNK4_ENST00000587705.1_Intron	NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	607					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)		TCAGCCCCCTGGGGGGGTGCC	0.637													19	91	---	---	---	---					
HDAC5	10014	broad.mit.edu	37	17	42157801	42157801	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr17:42157801delG	ENST00000225983.6	-	22	3119	c.2796delC	c.(2794-2796)ccfs	p.P932fs	HDAC5_ENST00000586802.1_Frame_Shift_Del_p.P931fs|HDAC5_ENST00000336057.5_Frame_Shift_Del_p.P846fs|HDAC5_ENST00000393622.2_Frame_Shift_Del_p.P931fs			Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	931	Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		CGTCTCCAATGGGGGGGTCCA	0.607													8	95	---	---	---	---					
XYLT2	64132	broad.mit.edu	37	17	48433967	48433967	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr17:48433967delC	ENST00000017003.2	+	8	1627	c.1578delC	c.(1576-1578)tafs	p.Y526fs	XYLT2_ENST00000507602.1_Frame_Shift_Del_p.Y526fs	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II	526					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	p.G529fs*17(1)		endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					ATGGCAGCTACCCCCCCGGCA	0.602													14	109	---	---	---	---					
SDK2	54549	broad.mit.edu	37	17	71394282	71394282	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr17:71394282delG	ENST00000392650.3	-	24	3246	c.3246delC	c.(3244-3246)ccfs	p.P1082fs	SDK2_ENST00000388726.3_Frame_Shift_Del_p.P1082fs	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1082	Fibronectin type-III 5.				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						AAGGCTGACTGGGGGGGCTGG	0.617													21	58	---	---	---	---					
ZACN	353174	broad.mit.edu	37	17	74077707	74077707	+	Frame_Shift_Del	DEL	G	G	-	rs146722649		TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr17:74077707delG	ENST00000334586.5	+	7	834	c.751delG	c.(751-753)ggfs	p.G252fs	EXOC7_ENST00000589210.1_3'UTR|EXOC7_ENST00000607838.1_3'UTR|EXOC7_ENST00000591724.1_Intron|EXOC7_ENST00000332065.5_3'UTR	NM_180990.3	NP_851321.2	Q401N2	ZACN_HUMAN	zinc activated ligand-gated ion channel	252	Leu-rich.				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						TGACGTGTGCGGGGGGTTGCT	0.612													23	222	---	---	---	---					
SRSF2	6427	broad.mit.edu	37	17	74732955	74732956	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr17:74732955_74732956insG	ENST00000392485.2	-	1	459_460	c.287_288insC	c.(286-288)cgafs	p.R96fs	MFSD11_ENST00000591864.1_5'UTR|SRSF2_ENST00000359995.5_Frame_Shift_Ins_p.R96fs|SRSF2_ENST00000508921.3_Frame_Shift_Ins_p.R96fs|MFSD11_ENST00000588460.1_5'UTR|MFSD11_ENST00000586622.1_5'UTR|RP11-318A15.7_ENST00000587459.1_Intron	NM_003016.4	NP_003007.2	Q01130	SRSF2_HUMAN	serine/arginine-rich splicing factor 2	96					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|protein binding|RNA binding|transcription corepressor activity	p.P95_R102del(21)|p.P95_D97del(2)		haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)	329						GGTGTGAGTCCGGGGGGCGGCC	0.743			Mis		"""MDS, CLL"""								14	89	---	---	---	---					
GAA	2548	broad.mit.edu	37	17	78090813	78090814	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr17:78090813_78090814insG	ENST00000302262.3	+	16	2455_2456	c.2236_2237insG	c.(2236-2238)gggfs	p.G746fs	GAA_ENST00000390015.3_Frame_Shift_Ins_p.G746fs	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	746			W -> C (in dbSNP:rs1800312).		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)	CCAGCTCCTGTGGGGGGAGGCC	0.634													12	90	---	---	---	---					
SLC26A11	284129	broad.mit.edu	37	17	78219988	78219989	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr17:78219988_78219989insG	ENST00000361193.3	+	12	1413_1414	c.1133_1134insG	c.(1132-1134)cgcfs	p.R378fs	SLC26A11_ENST00000546047.2_Frame_Shift_Ins_p.R378fs|SLC26A11_ENST00000572725.1_Frame_Shift_Ins_p.R378fs|SLC26A11_ENST00000411502.3_Frame_Shift_Ins_p.R378fs	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3	Q86WA9	S2611_HUMAN	solute carrier family 26 (anion exchanger), member 11	378						endoplasmic reticulum|Golgi apparatus|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)			GTGTGCACCCCGGCGGGGGGCC	0.663													45	199	---	---	---	---					
MYO5B	4645	broad.mit.edu	37	18	47421356	47421357	+	Frame_Shift_Ins	INS	-	-	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr18:47421356_47421357insT	ENST00000285039.7	-	22	3298_3299	c.2999_3000insA	c.(2998-3000)aatfs	p.N1000fs	MYO5B_ENST00000324581.6_Frame_Shift_Ins_p.N141fs	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1000					protein transport	myosin complex	actin binding|ATP 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)		CCTCCAAGATCTTGCGCTCCGA	0.644													25	79	---	---	---	---					
POLI	11201	broad.mit.edu	37	18	51795958	51795960	+	In_Frame_Del	DEL	CGA	CGA	-	rs140689079		TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr18:51795958_51795960delCGA	ENST00000579534.1	+	1	185_187	c.42_44delCGA	c.(40-45)ggc>gg	p.GD14del	POLI_ENST00000406285.3_In_Frame_Del_p.GD14del|POLI_ENST00000579434.1_5'UTR	NM_007195.2	NP_009126.2	Q9UNA4	POLI_HUMAN	polymerase (DNA directed) iota	14					DNA repair|DNA replication	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding	p.D17delD(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		AAGGCGGCGGCGACGACGACGAG	0.729								DNA polymerases (catalytic subunits)					6	2	---	---	---	---					
DSEL	92126	broad.mit.edu	37	18	65178971	65178971	+	Frame_Shift_Del	DEL	T	T	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr18:65178971delT	ENST00000310045.7	-	2	4378	c.2905delA	c.(2905-2907)gafs	p.R969fs	CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	959						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				TTAAATTTTCTTTTTTTGTCC	0.373													13	68	---	---	---	---					
PCSK4	54760	broad.mit.edu	37	19	1482094	1482094	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:1482094delG	ENST00000300954.5	-	15	1993	c.1932delC	c.(1930-1932)ccfs	p.P644fs		NM_017573.3	NP_060043.2	Q6UW60	PCSK4_HUMAN	proprotein convertase subtilisin/kexin type 4	644					proteolysis	integral to membrane	serine-type endopeptidase activity			cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCTCAGCGCGGGCGCCGCCG	0.706													5	6	---	---	---	---					
NCLN	56926	broad.mit.edu	37	19	3198891	3198891	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:3198891delC	ENST00000246117.4	+	5	1123	c.692delC	c.(691-693)gcfs	p.A231fs	NCLN_ENST00000590671.1_Frame_Shift_Del_p.A157fs	NM_020170.3	NP_064555.2	Q969V3	NCLN_HUMAN	nicalin	231					proteolysis|regulation of signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	peptidase activity|protein binding			kidney(1)|lung(3)|skin(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.83e-113)|Epithelial(107;1.65e-111)|all cancers(105;1.53e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00139)|STAD - Stomach adenocarcinoma(1328;0.18)		TTTGGAGTGGCCCCCGTACGT	0.652													24	60	---	---	---	---					
HDGFRP2	84717	broad.mit.edu	37	19	4491814	4491814	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:4491814delG	ENST00000301284.4	+	6	724	c.660delG	c.(658-660)ctfs	p.L220fs	HDGFRP2_ENST00000586684.1_Frame_Shift_Del_p.L220fs	NM_001001520.1|NM_032631.2	NP_001001520.1|NP_116020.1	Q7Z4V5	HDGR2_HUMAN		220	Ser-rich.				transcription, DNA-dependent	nucleus	DNA binding|protein binding										GGGGCCCTCTGGGGGGACGGA	0.642													22	156	---	---	---	---					
ZNF491	126069	broad.mit.edu	37	19	11917606	11917606	+	Frame_Shift_Del	DEL	T	T	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:11917606delT	ENST00000323169.5	+	3	1169	c.838delT	c.(838-840)ttfs	p.F280fs	ZNF491_ENST00000492230.1_Intron	NM_152356.3	NP_689569.2	Q8N8L2	ZN491_HUMAN	zinc finger protein 491	280					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1)	26						TGGGAAAGCCTTTTACTCTCC	0.423													7	53	---	---	---	---					
ZNF607	84775	broad.mit.edu	37	19	38189415	38189415	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:38189415delC	ENST00000355202.4	-	5	2212	c.1617delG	c.(1615-1617)ggfs	p.G539fs	ZNF607_ENST00000395835.3_Frame_Shift_Del_p.G538fs|CTD-2528L19.4_ENST00000586606.2_Intron	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	539					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)			TAAAAGACTTCCCGCATTTGT	0.418													22	70	---	---	---	---					
MEGF8	1954	broad.mit.edu	37	19	42838298	42838298	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:42838298delG	ENST00000334370.4	+	3	1126	c.491delG	c.(490-492)tgfs	p.W164fs	MEGF8_ENST00000251268.6_Frame_Shift_Del_p.W164fs	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	164	EGF-like 1.					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)				GAGCCGGGCTGGGGGGGTCCT	0.701													12	59	---	---	---	---					
ZNF576	79177	broad.mit.edu	37	19	44102995	44102995	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:44102995delC	ENST00000336564.4	+	3	252	c.98delC	c.(97-99)gcfs	p.A33fs	ZNF576_ENST00000525771.1_Frame_Shift_Del_p.A33fs|ZNF576_ENST00000533118.1_Frame_Shift_Del_p.A33fs|SRRM5_ENST00000526798.1_Intron|ZNF576_ENST00000528387.1_Frame_Shift_Del_p.A33fs|ZNF576_ENST00000391965.2_Frame_Shift_Del_p.A33fs|SRRM5_ENST00000607544.1_Intron|ZNF576_ENST00000529930.1_Frame_Shift_Del_p.A33fs	NM_001145347.1	NP_001138819.1	Q9H609	ZN576_HUMAN	zinc finger protein 576	33					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|prostate(1)	2		Prostate(69;0.0199)				CACCTGGGGGCCCCGAAGTGC	0.602													36	107	---	---	---	---					
KCNN4	3783	broad.mit.edu	37	19	44284948	44284950	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:44284948_44284950delCTC	ENST00000262888.3	-	1	459_461	c.64_66delGAG	c.(64-66)del	p.E22del		NM_002250.2	NP_002241.1	O15554	KCNN4_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4	22					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)	CCAGAGACTTCTCCTGCTCCAGC	0.660													48	148	---	---	---	---					
CEACAM20	125931	broad.mit.edu	37	19	45015107	45015107	+	RNA	DEL	T	T	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:45015107delT	ENST00000454753.1	-	0	1997							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				TGACTCCATGTTTTTTGGCAC	0.483													7	46	---	---	---	---					
RELB	5971	broad.mit.edu	37	19	45540824	45540824	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:45540824delC	ENST00000221452.8	+	12	1666	c.1516delC	c.(1516-1518)ccfs	p.P507fs	RELB_ENST00000540120.1_Frame_Shift_Del_p.P507fs|RELB_ENST00000505236.1_Frame_Shift_Del_p.P504fs	NM_006509.3	NP_006500.2	Q01201	RELB_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog B	507						nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1)	12		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)		GGACCTGCTGCCCCCGGCACC	0.697													21	45	---	---	---	---					
FUZ	80199	broad.mit.edu	37	19	50314897	50314899	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:50314897_50314899delCTT	ENST00000313777.4	-	4	539_541	c.376_378delAAG	c.(376-378)del	p.K126del	FUZ_ENST00000528094.1_In_Frame_Del_p.K90del|FUZ_ENST00000445575.2_In_Frame_Del_p.K126del|FUZ_ENST00000534008.1_5'UTR|FUZ_ENST00000533418.1_In_Frame_Del_p.K76del|FUZ_ENST00000526575.1_3'UTR	NM_025129.4	NP_079405.2	Q9BT04	FUZZY_HUMAN	fuzzy planar cell polarity protein	126					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)		CCCTCAAGTCCTTCTTCAGTCTC	0.547													9	636	---	---	---	---					
EPN1	29924	broad.mit.edu	37	19	56206189	56206189	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:56206189delC	ENST00000411543.2	+	10	2167	c.1620delC	c.(1618-1620)agfs	p.S540fs	EPN1_ENST00000085079.7_Frame_Shift_Del_p.S428fs|EPN1_ENST00000270460.6_Frame_Shift_Del_p.S454fs	NM_001130071.1	NP_001123543.1	Q9Y6I3	EPN1_HUMAN	epsin 1	454	3 X 3 AA repeats of N-P-F.|Ala/Gly/Pro-rich.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|cytoplasm|nucleus|plasma membrane	lipid binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	17		Colorectal(82;0.00244)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.112)		CTGTGGGCAGCCCCCCACCTG	0.687													8	16	---	---	---	---					
ZNF274	10782	broad.mit.edu	37	19	58723888	58723888	+	Frame_Shift_Del	DEL	A	A	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr19:58723888delA	ENST00000326804.4	+	9	1797	c.1338delA	c.(1336-1338)agfs	p.R446fs	ZNF274_ENST00000424679.2_Frame_Shift_Del_p.R341fs|ZNF274_ENST00000345813.3_Frame_Shift_Del_p.R414fs|ZNF274_ENST00000597818.1_3'UTR	NM_133502.1	NP_598009.1	Q96GC6	ZN274_HUMAN	zinc finger protein 274	447					viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		TTCCTCCTAGAAAACGATTGC	0.423													12	113	---	---	---	---					
CPXM1	56265	broad.mit.edu	37	20	2779390	2779391	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr20:2779390_2779391insG	ENST00000380605.2	-	2	385_386	c.321_322insC	c.(319-324)ccctgafs	p.*108fs		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	108					cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						TGTTTCTCAGCGGGGTCGAGGG	0.609													50	183	---	---	---	---					
RRBP1	6238	broad.mit.edu	37	20	17602515	17602516	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr20:17602515_17602516delAG	ENST00000377813.1	-	14	3527_3528	c.3224_3225delCT	c.(3223-3225)tfs	p.S1075fs	RRBP1_ENST00000455029.2_Frame_Shift_Del_p.S416fs|RRBP1_ENST00000377807.2_Frame_Shift_Del_p.S642fs|RRBP1_ENST00000360807.4_Frame_Shift_Del_p.S642fs|RRBP1_ENST00000246043.4_Frame_Shift_Del_p.S1075fs			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	1075					protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						GTGCCAAGACAGAGAGTTCTGG	0.594													15	107	---	---	---	---					
XKR7	343702	broad.mit.edu	37	20	30584862	30584862	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr20:30584862delC	ENST00000217299.3	+	3	1516	c.1342delC	c.(1342-1344)ccfs	p.P448fs		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7	448						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CATGCTGGGTCCCCAGGCACC	0.612													44	81	---	---	---	---					
ZSWIM1	90204	broad.mit.edu	37	20	44511649	44511650	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr20:44511649_44511650delGA	ENST00000372523.1	+	2	513_514	c.418_419delGA	c.(418-420)gfs	p.E140fs	ZSWIM1_ENST00000372520.1_Frame_Shift_Del_p.E140fs	NM_080603.4	NP_542170.3	Q9BR11	ZSWM1_HUMAN	zinc finger, SWIM-type containing 1	140							zinc ion binding			breast(1)|endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13		Myeloproliferative disorder(115;0.028)				TCCAGCATGGGAGAGAGTCTGT	0.515													19	174	---	---	---	---					
SLC37A1	54020	broad.mit.edu	37	21	43954890	43954890	+	Frame_Shift_Del	DEL	C	C	-	rs111313584		TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr21:43954890delC	ENST00000352133.2	+	4	1203	c.221delC	c.(220-222)gcfs	p.A74fs	SLC37A1_ENST00000398341.3_Frame_Shift_Del_p.A74fs			P57057	GLPT_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 1	74					carbohydrate transport|transmembrane transport	integral to membrane				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(3)	15						GGGTCCGCTGCCCCCCACCAG	0.607													7	56	---	---	---	---					
MTMR3	8897	broad.mit.edu	37	22	30415743	30415745	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr22:30415743_30415745delGAG	ENST00000333027.3	+	17	2423_2425	c.2095_2097delGAG	c.(2095-2097)del	p.E700del	MTMR3_ENST00000351488.3_In_Frame_Del_p.E700del|MTMR3_ENST00000323630.5_In_Frame_Del_p.E564del|MTMR3_ENST00000406629.1_In_Frame_Del_p.E700del|MTMR3_ENST00000401950.2_In_Frame_Del_p.E700del|CTA-85E5.10_ENST00000429350.1_RNA	NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	700					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)			GGCCACCAAAGAGGAGAGTGGAG	0.581													8	152	---	---	---	---					
CACNG2	10369	broad.mit.edu	37	22	36960608	36960608	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr22:36960608delG	ENST00000300105.6	-	4	1743	c.762delC	c.(760-762)ccfs	p.P254fs		NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN	calcium channel, voltage-dependent, gamma subunit 2	254					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						TGATGCCCACGGGGGAGGCGT	0.692													15	291	---	---	---	---					
CSNK1E	1454	broad.mit.edu	37	22	38695939	38695941	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr22:38695939_38695941delTCT	ENST00000396832.1	-	6	955_957	c.695_697delAGA	c.(694-699)atg>a	p.KM232del	CSNK1E_ENST00000498529.1_5'UTR|CSNK1E_ENST00000413574.2_In_Frame_Del_p.KM232del|CSNK1E_ENST00000359867.3_In_Frame_Del_p.KM232del|CSNK1E_ENST00000400206.2_In_Frame_Del_p.KM232del|CSNK1E_ENST00000405675.3_In_Frame_Del_p.KM232del|CSNK1E_ENST00000403904.1_In_Frame_Del_p.KM232del	NM_152221.2	NP_689407.1	P49674	KC1E_HUMAN	casein kinase 1, epsilon	232	Protein kinase.				DNA repair|G2/M transition of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|signal transduction	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Melanoma(58;0.045)					GGCGTTGACATCTTCTTCTCGCT	0.596													10	274	---	---	---	---					
PPARA	5465	broad.mit.edu	37	22	46631062	46631063	+	Frame_Shift_Ins	INS	-	-	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chr22:46631062_46631063insA	ENST00000396000.2	+	8	1457_1458	c.1192_1193insA	c.(1192-1194)aaafs	p.K398fs	PPARA_ENST00000402126.1_Frame_Shift_Ins_p.K398fs|PPARA_ENST00000434345.2_3'UTR|PPARA_ENST00000262735.5_Frame_Shift_Ins_p.K398fs|PPARA_ENST00000407236.1_Frame_Shift_Ins_p.K398fs			Q07869	PPARA_HUMAN	peroxisome proliferator-activated receptor alpha	398	Ligand-binding.|Required for heterodimerization with RXRA.				fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|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|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641)	AGGACACATTGAAAAAATGCAG	0.446													12	53	---	---	---	---					
GTPBP6	8225	broad.mit.edu	37	X	230859	230859	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:230859delG	ENST00000326153.4	-	1	27	c.28delC	c.(28-30)acfs	p.H10fs				O43824	GTPB6_HUMAN	GTP binding protein 6 (putative)	239						intracellular	GTP binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(3)	7		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)				CGGTACAGGTGGGCGACGTCC	0.652													13	32	---	---	---	---					
TLR8	51311	broad.mit.edu	37	X	12939402	12939403	+	Frame_Shift_Ins	INS	-	-	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:12939402_12939403insA	ENST00000218032.6	+	2	2330_2331	c.2243_2244insA	c.(2242-2244)caafs	p.Q748fs	TLR8_ENST00000311912.5_Frame_Shift_Ins_p.Q766fs	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	748					cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|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	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TCCAATCTGCTAAAAACAATCA	0.441													16	118	---	---	---	---					
PTCHD1	139411	broad.mit.edu	37	X	23411786	23411786	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:23411786delG	ENST00000379361.4	+	3	3011	c.2151delG	c.(2149-2151)ctfs	p.L717fs		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	717					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						CGGCATTCCTGGTGGCAGATT	0.488													36	46	---	---	---	---					
FAM47C	442444	broad.mit.edu	37	X	37026773	37026773	+	Frame_Shift_Del	DEL	T	T	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:37026773delT	ENST00000358047.3	+	1	342	c.290delT	c.(289-291)cgfs	p.L98fs		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	98										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						AAGAAAAAGCTGCTCAAGAAA	0.532													53	105	---	---	---	---					
KDM6A	7403	broad.mit.edu	37	X	44732910	44732910	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:44732910delC	ENST00000377967.4	+	1	154	c.113delC	c.(112-114)tcfs	p.S38fs	KDM6A_ENST00000382899.4_Frame_Shift_Del_p.S38fs|KDM6A_ENST00000543216.1_Frame_Shift_Del_p.S38fs|KDM6A_ENST00000536777.1_Frame_Shift_Del_p.S38fs	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	38					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0(8)|p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						GAGGAGGCGTCCCCCAGCCTG	0.711			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								5	1	---	---	---	---					
RAB40AL	282808	broad.mit.edu	37	X	102192368	102192368	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:102192368delC	ENST00000218249.5	+	1	169	c.122delC	c.(121-123)tcfs	p.S41fs		NM_001031834.1	NP_001027004.1	P0C0E4	RB40L_HUMAN	RAB40A, member RAS oncogene family-like	41					protein transport|small GTPase mediated signal transduction	mitochondrion|plasma membrane	GTP binding			endometrium(4)|large_intestine(2)|lung(3)|ovary(3)	12						ACGGCCGAGTCCCCGTACAGT	0.632													25	135	---	---	---	---					
MORC4	79710	broad.mit.edu	37	X	106243198	106243199	+	Translation_Start_Site	INS	-	-	T			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:106243198_106243199insT	ENST00000535534.1	-	0	275_276				MORC4_ENST00000255495.7_Start_Codon_Ins|MORC4_ENST00000355610.4_Start_Codon_Ins			Q8TE76	MORC4_HUMAN	MORC family CW-type zinc finger 4								ATP binding|zinc ion binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						GTACAGGAGCATTTTTTTGGCC	0.772													16	56	---	---	---	---					
SLC6A14	11254	broad.mit.edu	37	X	115588851	115588852	+	Frame_Shift_Ins	INS	-	-	TT			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:115588851_115588852insTT	ENST00000371900.4	+	13	1779_1780	c.1691_1692insTT	c.(1690-1692)gttfs	p.V564fs	SLC6A14_ENST00000463626.1_Intron	NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14	564					cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)	TGGGGAGTTGCTTTAGGCTGGT	0.361													28	209	---	---	---	---					
GPR112	139378	broad.mit.edu	37	X	135430440	135430441	+	Frame_Shift_Ins	INS	-	-	A			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:135430440_135430441insA	ENST00000394143.1	+	6	4866_4867	c.4575_4576insA	c.(4573-4578)tcaaaafs	p.SK1525fs	GPR112_ENST00000412101.1_Frame_Shift_Ins_p.SK1320fs|GPR112_ENST00000394141.1_Frame_Shift_Ins_p.SK1320fs|GPR112_ENST00000287534.4_Frame_Shift_Ins_p.SK1462fs|GPR112_ENST00000370652.1_Frame_Shift_Ins_p.SK1525fs	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1525					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CCTTCACCTCCAAAAAAGTTTC	0.421													13	110	---	---	---	---					
FGF13	2258	broad.mit.edu	37	X	137939822	137939823	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:137939822_137939823insG	ENST00000370603.3	-	2	67_68	c.68_69insC	c.(67-69)cggfs	p.R23fs	FGF13_ENST00000541469.1_Intron|FGF13_ENST00000441825.2_5'UTR			Q92913	FGF13_HUMAN	fibroblast growth factor 13	0					cell-cell signaling|MAPKKK cascade|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24	Acute lymphoblastic leukemia(192;0.000127)					CCTGTGTGCCAGGGGGGGCGTC	0.431													8	38	---	---	---	---					
MAGEC1	9947	broad.mit.edu	37	X	140994993	140994993	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-8506-01A-11D-2393-08	TCGA-55-8506-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c689e3-563d-41f1-b08e-9322653e2eb2	1ad5dca0-8616-4d2d-82b7-05098d7844d9	g.chrX:140994993delG	ENST00000285879.4	+	4	2089	c.1803delG	c.(1801-1803)cafs	p.Q601fs	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	601							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)					GCCCTCCTCAGGGGGAGGACT	0.582										HNSCC(15;0.026)			8	542	---	---	---	---					
