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
ATP5I	521	broad.mit.edu	37	4	667135	667135	+	Silent	SNP	C	C	T			TCGA-XF-A9SV-01A-21D-A42E-08	TCGA-XF-A9SV-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44b82f9b-d207-45e9-a872-a59812fa0b38	8af7f2bb-620e-4fb0-883b-a05bbc9ea120	g.chr4:667135C>T	ENST00000304312.4	-	3	237	c.147G>A	c.(145-147)aaG>aaA	p.K49K	ATP5I_ENST00000506525.1_5'UTR	NM_007100.3	NP_009031.1	P56385	ATP5I_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit E	49					ATP catabolic process|respiratory electron transport chain		hydrogen ion transmembrane transporter activity			lung(1)|skin(1)	2						CATCCTGCTTCTTCTTCTCTT	0.473000													9	43					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137990654	137990654	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SV-01A-21D-A42E-08	TCGA-XF-A9SV-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44b82f9b-d207-45e9-a872-a59812fa0b38	8af7f2bb-620e-4fb0-883b-a05bbc9ea120	g.chr2:137990654C>G	ENST00000409968.1	+	9	2279	c.2101C>G	c.(2101-2103)Cgg>Ggg	p.R701G	THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.R701G|THSD7B_ENST00000413152.2_Missense_Mutation_p.R670G					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CATTCAGACTCGGAGAGTCTT	0.453000													7	12					0	0	1	0	0
ATP10D	57205	broad.mit.edu	37	4	47570898	47570898	+	Silent	SNP	G	G	A			TCGA-XF-A9SV-01A-21D-A42E-08	TCGA-XF-A9SV-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44b82f9b-d207-45e9-a872-a59812fa0b38	8af7f2bb-620e-4fb0-883b-a05bbc9ea120	g.chr4:47570898G>A	ENST00000273859.3	+	16	3167	c.2898G>A	c.(2896-2898)caG>caA	p.Q966Q		NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	966					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						AAGAACTTCAGAAGAAAACTC	0.498000													40	32					0	0	1	0	0
MBOAT2	129642	broad.mit.edu	37	2	9083342	9083342	+	Silent	SNP	G	G	A			TCGA-XF-A9SV-01A-21D-A42E-08	TCGA-XF-A9SV-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44b82f9b-d207-45e9-a872-a59812fa0b38	8af7f2bb-620e-4fb0-883b-a05bbc9ea120	g.chr2:9083342G>A	ENST00000305997.3	-	3	471	c.273C>T	c.(271-273)atC>atT	p.I91I	MBOAT2_ENST00000486484.1_5'UTR	NM_138799.2	NP_620154.2	Q6ZWT7	MBOA2_HUMAN	membrane bound O-acyltransferase domain containing 2	91					phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity		MBOAT2/PRKCE(2)	endometrium(2)|kidney(1)|large_intestine(9)|lung(2)|skin(1)	15	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CTCCTATGATGATCATGATAC	0.323000													29	939					0	0	1	0	0
HYAL2	8692	broad.mit.edu	37	3	50355891	50355891	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9SV-01A-21D-A42E-08	TCGA-XF-A9SV-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44b82f9b-d207-45e9-a872-a59812fa0b38	8af7f2bb-620e-4fb0-883b-a05bbc9ea120	g.chr3:50355891T>C	ENST00000447092.1	-	3	3383	c.1091A>G	c.(1090-1092)tAt>tGt	p.Y364C	HYAL2_ENST00000357750.4_Missense_Mutation_p.Y364C|HYAL2_ENST00000395139.3_Missense_Mutation_p.Y364C|HYAL2_ENST00000442581.1_Missense_Mutation_p.Y364C			Q12891	HYAL2_HUMAN	hyaluronoglucosaminidase 2	364	EGF-like.					anchored to membrane|lysosome|plasma membrane	hyalurononglucosaminidase activity|receptor activity			breast(1)|endometrium(2)|kidney(1)|ovary(1)|prostate(1)|skin(1)	7				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	Hyaluronidase(DB00070)	CCGGCTGCAATATTGGGTGGC	0.602000													29	25					0	0	1	0	0
LILRB3	11025	broad.mit.edu	37	19	54722677	54722677	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9SV-01A-21D-A42E-08	TCGA-XF-A9SV-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44b82f9b-d207-45e9-a872-a59812fa0b38	8af7f2bb-620e-4fb0-883b-a05bbc9ea120	g.chr19:54722677G>T	ENST00000391750.1	-	10	1593	c.1457C>A	c.(1456-1458)gCa>gAa	p.A486E	LILRB3_ENST00000245620.9_Missense_Mutation_p.A486E|LILRB3_ENST00000469273.1_5'UTR|LILRA6_ENST00000391735.3_3'UTR|LILRA6_ENST00000270464.5_Missense_Mutation_p.A486E|LILRB3_ENST00000346401.6_Missense_Mutation_p.A498E|LILRB3_ENST00000424807.1_Missense_Mutation_p.A486E|LILRA6_ENST00000440558.2_Missense_Mutation_p.A486E|LILRB3_ENST00000407860.2_Missense_Mutation_p.A503E|LILRA6_ENST00000419410.2_Missense_Mutation_p.A486E			O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3	486					cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CGCAGCCCCTGCAGGACGCTG	0.567000													28	23					2.25844e-05	2.36497e-05	1	1	0
DNAJB6	10049	broad.mit.edu	37	7	157151247	157151247	+	Translation_Start_Site	SNP	T	T	G			TCGA-XF-A9SV-01A-21D-A42E-08	TCGA-XF-A9SV-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44b82f9b-d207-45e9-a872-a59812fa0b38	8af7f2bb-620e-4fb0-883b-a05bbc9ea120	g.chr7:157151247T>G	ENST00000452797.2	+	0	136				DNAJB6_ENST00000262177.4_De_novo_Start_InFrame|DNAJB6_ENST00000429029.2_De_novo_Start_InFrame|DNAJB6_ENST00000443280.1_De_novo_Start_InFrame			O75190	DNJB6_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 6						intermediate filament organization|negative regulation of caspase activity|protein folding|response to unfolded protein	nucleus|perinuclear region of cytoplasm	ATPase activator activity|chaperone binding|heat shock protein binding|unfolded protein binding			central_nervous_system(1)|lung(1)|ovary(2)|stomach(1)	5	all_neural(206;0.181)	all_epithelial(9;0.000606)|all_hematologic(28;0.00287)|Acute lymphoblastic leukemia(9;0.0647)|Ovarian(593;0.196)	OV - Ovarian serous cystadenocarcinoma(82;0.00399)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		GCAGGACCCATTCCAACAATC	0.488000													10	17					0	0	1	0	0
KRT4	3851	broad.mit.edu	37	12	53200853	53200853	+	Silent	SNP	C	C	T			TCGA-XF-A9SV-01A-21D-A42E-08	TCGA-XF-A9SV-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44b82f9b-d207-45e9-a872-a59812fa0b38	8af7f2bb-620e-4fb0-883b-a05bbc9ea120	g.chr12:53200853C>T	ENST00000293774.4	-	9	2055	c.1785G>A	c.(1783-1785)taG>taA	p.*595*	KRT4_ENST00000458244.2_Silent_p.*501*|KRT4_ENST00000551956.1_Silent_p.*521*			B4DRS2	B4DRS2_HUMAN	keratin 4	0						keratin filament	structural molecule activity			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						CTCGTCTCCTCTATCGTCTCT	0.572000													7	46					0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72829207	72829207	+	Silent	SNP	C	C	T			TCGA-XF-A9SV-01A-21D-A42E-08	TCGA-XF-A9SV-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44b82f9b-d207-45e9-a872-a59812fa0b38	8af7f2bb-620e-4fb0-883b-a05bbc9ea120	g.chr16:72829207C>T	ENST00000268489.5	-	9	8046	c.7374G>A	c.(7372-7374)gaG>gaA	p.E2458E	ZFHX3_ENST00000397992.5_Silent_p.E1544E	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2458					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)				GCTCGGGCTGCTCTTGCTGCT	0.597000													15	32					0	0	1	0	0
SOS1	6654	broad.mit.edu	37	2	39262381	39262381	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9SV-01A-21D-A42E-08	TCGA-XF-A9SV-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44b82f9b-d207-45e9-a872-a59812fa0b38	8af7f2bb-620e-4fb0-883b-a05bbc9ea120	g.chr2:39262381T>C	ENST00000426016.1	-	9	1132	c.1046A>G	c.(1045-1047)cAc>cGc	p.H349R	SOS1_ENST00000395038.2_Missense_Mutation_p.H349R|SOS1_ENST00000428721.2_Missense_Mutation_p.H292R|SOS1_ENST00000402219.2_Missense_Mutation_p.H349R			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	349	DH.				apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				ATGGAGACAGTGGTAAACAGG	0.313000									Noonan syndrome				7	10					0	0	1	0	0
ZNRD1-AS1	80862	broad.mit.edu	37	6	29977358	29977358	+	RNA	SNP	T	T	C	rs146982767	by1000genomes	TCGA-XF-A9SV-01A-21D-A42E-08	TCGA-XF-A9SV-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44b82f9b-d207-45e9-a872-a59812fa0b38	8af7f2bb-620e-4fb0-883b-a05bbc9ea120	g.chr6:29977358T>C	ENST00000376797.3	-	0	731				ZNRD1-AS1_ENST00000420251.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA																							GATTTGTTCATGCCTTCCCTT	0.448000													3	38					0	0	1	0	0
REG3A	5068	broad.mit.edu	37	2	79384717	79384717	+	Silent	SNP	C	C	T			TCGA-XF-A9SV-01A-21D-A42E-08	TCGA-XF-A9SV-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44b82f9b-d207-45e9-a872-a59812fa0b38	8af7f2bb-620e-4fb0-883b-a05bbc9ea120	g.chr2:79384717C>T	ENST00000393878.1	-	4	695	c.441G>A	c.(439-441)gcG>gcA	p.A147A	REG3A_ENST00000409839.3_Silent_p.A147A|REG3A_ENST00000305165.2_Silent_p.A147A	NM_138938.2	NP_620355.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha	147	C-type lectin.				acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding			breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						TCGACAGGCTCGCACAGTGGC	0.527000													19	47					0	0	1	0	0
PRKDC	5591	broad.mit.edu	37	8	48744473	48744473	+	Missense_Mutation	SNP	T	T	G			TCGA-XF-A9SV-01A-21D-A42E-08	TCGA-XF-A9SV-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44b82f9b-d207-45e9-a872-a59812fa0b38	8af7f2bb-620e-4fb0-883b-a05bbc9ea120	g.chr8:48744473T>G	ENST00000314191.2	-	61	8220	c.8164A>C	c.(8164-8166)Acg>Ccg	p.T2722P	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.T2722P	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2723	KIP-binding.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				AGTAGGTCCGTCCGGCCGGCC	0.567000								Non-homologous end-joining					25	92					0	0	1	0	0
BMS1	9790	broad.mit.edu	37	10	43292475	43292475	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SV-01A-21D-A42E-08	TCGA-XF-A9SV-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44b82f9b-d207-45e9-a872-a59812fa0b38	8af7f2bb-620e-4fb0-883b-a05bbc9ea120	g.chr10:43292475G>A	ENST00000374518.5	+	10	1846	c.1783G>A	c.(1783-1785)Gaa>Aaa	p.E595K		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor						ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						AGATGAATCTGAAGAAAGCTC	0.443000													7	31					0	0	1	0	0
OR8I2	120586	broad.mit.edu	37	11	55861323	55861323	+	Silent	SNP	C	C	A			TCGA-XF-A9SV-01A-21D-A42E-08	TCGA-XF-A9SV-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44b82f9b-d207-45e9-a872-a59812fa0b38	8af7f2bb-620e-4fb0-883b-a05bbc9ea120	g.chr11:55861323C>A	ENST00000302124.2	+	1	571	c.540C>A	c.(538-540)acC>acA	p.T180T		NM_001003750.1	NP_001003750.1	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	180					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					TTTGTGACACCACAGCTCTTT	0.433000													27	24					8.58068e-18	9.71894e-18	1	1	0
ACSM2B	348158	broad.mit.edu	37	16	20565115	20565115	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9SV-01A-21D-A42E-08	TCGA-XF-A9SV-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44b82f9b-d207-45e9-a872-a59812fa0b38	8af7f2bb-620e-4fb0-883b-a05bbc9ea120	g.chr16:20565115C>A	ENST00000329697.6	-	5	892	c.724G>T	c.(724-726)Gcc>Tcc	p.A242S	ACSM2B_ENST00000567288.1_5'UTR|ACSM2B_ENST00000565232.1_Missense_Mutation_p.A242S|ACSM2B_ENST00000565322.1_Missense_Mutation_p.A163S|ACSM2B_ENST00000567001.1_Missense_Mutation_p.A242S	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	242					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						TCCATCTTGGCCTTGAGGCCC	0.517000													17	43					1.22574e-08	1.33389e-08	1	1	0
MKNK1	8569	broad.mit.edu	37	1	47040641	47040641	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9SV-01A-21D-A42E-08	TCGA-XF-A9SV-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44b82f9b-d207-45e9-a872-a59812fa0b38	8af7f2bb-620e-4fb0-883b-a05bbc9ea120	g.chr1:47040641C>A	ENST00000371946.4	-	6	529	c.366G>T	c.(364-366)ttG>ttT	p.L122F	MKNK1_ENST00000371944.4_Intron|MKNK1_ENST00000545730.1_Missense_Mutation_p.L122F|MKNK1_ENST00000341183.5_Missense_Mutation_p.L122F|MKNK1_ENST00000428112.2_Missense_Mutation_p.L122F|MKNK1_ENST00000371945.4_Missense_Mutation_p.L122F	NM_003684.5	NP_003675.2	Q9BUB5	MKNK1_HUMAN	MAP kinase interacting serine/threonine kinase 1	122	Protein kinase.				intracellular protein kinase cascade|peptidyl-serine phosphorylation|regulation of translation	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	13	Acute lymphoblastic leukemia(166;0.155)					TCTCAAAGACCAAGTAAAACC	0.418000													3	55					0.004672	0.00475772	1	1	0
NTN1	9423	broad.mit.edu	37	17	8926154	8926154	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SV-01A-21D-A42E-08	TCGA-XF-A9SV-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44b82f9b-d207-45e9-a872-a59812fa0b38	8af7f2bb-620e-4fb0-883b-a05bbc9ea120	g.chr17:8926154G>A	ENST00000173229.2	+	2	571	c.464G>A	c.(463-465)cGg>cAg	p.R155Q	NTN1_ENST00000546090.1_Missense_Mutation_p.R155Q|NTN1_ENST00000538852.1_Missense_Mutation_p.R155Q	NM_004822.2	NP_004813.2	O95631	NET1_HUMAN	netrin 1	155	Laminin N-terminal.				apoptosis|axon guidance		protein binding		NTN1/ACLY(2)	central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(5)	13						TGCTCGCCGCGGCCCGAGTCC	0.607000													4	4					0	0	1	0	0
ZP1	22917	broad.mit.edu	37	11	60640854	60640854	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9SV-01A-21D-A42E-08	TCGA-XF-A9SV-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44b82f9b-d207-45e9-a872-a59812fa0b38	8af7f2bb-620e-4fb0-883b-a05bbc9ea120	g.chr11:60640854C>A	ENST00000278853.5	+	8	1247	c.1247C>A	c.(1246-1248)aCc>aAc	p.T416N		NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 (sperm receptor)	416	ZP.				single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						GCAGACGAGACCTTCAGCTCG	0.582000													12	37					2.80697e-09	3.08489e-09	1	1	0
PTPRT	11122	broad.mit.edu	37	20	40790072	40790072	+	Missense_Mutation	SNP	C	C	T	rs61753667		TCGA-XF-A9SV-01A-21D-A42E-08	TCGA-XF-A9SV-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44b82f9b-d207-45e9-a872-a59812fa0b38	8af7f2bb-620e-4fb0-883b-a05bbc9ea120	g.chr20:40790072C>T	ENST00000373198.4	-	18	2894	c.2659G>A	c.(2659-2661)Gcc>Acc	p.A887T	PTPRT_ENST00000373184.1_Missense_Mutation_p.A858T|PTPRT_ENST00000373201.1_Missense_Mutation_p.A858T|PTPRT_ENST00000356100.2_Missense_Mutation_p.A877T|PTPRT_ENST00000373187.1_Missense_Mutation_p.A868T|PTPRT_ENST00000373193.3_Missense_Mutation_p.A871T|PTPRT_ENST00000373190.1_Missense_Mutation_p.A867T	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T						homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				ACCCGGATGGCGGGTTGGAAC	0.622000													31	29					0	0	1	0	0
CCDC40	55036	broad.mit.edu	37	17	78055728	78055728	+	Silent	SNP	C	C	T			TCGA-XF-A9SV-01A-21D-A42E-08	TCGA-XF-A9SV-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44b82f9b-d207-45e9-a872-a59812fa0b38	8af7f2bb-620e-4fb0-883b-a05bbc9ea120	g.chr17:78055728C>T	ENST00000397545.4	+	12	1887	c.1860C>T	c.(1858-1860)ggC>ggT	p.G620G	CCDC40_ENST00000374877.3_Silent_p.G620G	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	620					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)			CCATCCAGGGCGAGCTGGAGC	0.582000													6	23					0	0	1	0	0
TMEM214	54867	broad.mit.edu	37	2	27263068	27263068	+	Splice_Site	SNP	T	T	A			TCGA-XF-A9SV-01A-21D-A42E-08	TCGA-XF-A9SV-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44b82f9b-d207-45e9-a872-a59812fa0b38	8af7f2bb-620e-4fb0-883b-a05bbc9ea120	g.chr2:27263068T>A	ENST00000238788.9	+	15	1853		c.e15+2		TMEM214_ENST00000404032.3_Splice_Site	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN	transmembrane protein 214							integral to membrane	protein binding			kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						TCTCAGAGGGTAAGTCAGAGA	0.552000													23	21					0	0	1	0	0
MTHFD1L	25902	broad.mit.edu	37	6	151197292	151197292	+	Silent	SNP	G	G	A	rs149044401		TCGA-XF-A9SV-01A-21D-A42E-08	TCGA-XF-A9SV-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44b82f9b-d207-45e9-a872-a59812fa0b38	8af7f2bb-620e-4fb0-883b-a05bbc9ea120	g.chr6:151197292G>A	ENST00000367321.3	+	2	568	c.294G>A	c.(292-294)ccG>ccA	p.P98P	MTHFD1L_ENST00000367307.4_Silent_p.P98P	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	98	Methylenetetrahydrofolate dehydrogenase and cyclohydrolase.				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)		CCTTCAAGCCGGTTCTTGCAA	0.358000													19	32					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9075072	9075072	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SV-01A-21D-A42E-08	TCGA-XF-A9SV-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44b82f9b-d207-45e9-a872-a59812fa0b38	8af7f2bb-620e-4fb0-883b-a05bbc9ea120	g.chr19:9075072G>A	ENST00000397910.4	-	3	12577	c.12374C>T	c.(12373-12375)aCg>aTg	p.T4125M		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4127	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						TCTCTGAGTCGTAGCCAGTGG	0.502000													16	34					0	0	1	0	0
ALG12	79087	broad.mit.edu	37	22	50297885	50297885	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SV-01A-21D-A42E-08	TCGA-XF-A9SV-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44b82f9b-d207-45e9-a872-a59812fa0b38	8af7f2bb-620e-4fb0-883b-a05bbc9ea120	g.chr22:50297885C>T	ENST00000330817.6	-	9	1453	c.1180G>A	c.(1180-1182)Gac>Aac	p.D394N	CITF22-1A6.3_ENST00000610245.1_lincRNA	NM_024105.3	NP_077010.1	Q9BV10	ALG12_HUMAN	ALG12, alpha-1,6-mannosyltransferase						dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		GCTGCCACGTCAATGTGCAGA	0.637000													6	29					0	0	1	0	0
MRPL45	84311	broad.mit.edu	37	17	36453192	36453192	+	Missense_Mutation	SNP	T	T	G	rs139299251	by1000genomes	TCGA-XF-A9SV-01A-21D-A42E-08	TCGA-XF-A9SV-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44b82f9b-d207-45e9-a872-a59812fa0b38	8af7f2bb-620e-4fb0-883b-a05bbc9ea120	g.chr17:36453192T>G	ENST00000312513.5	+	1	204	c.43T>G	c.(43-45)Ttt>Gtt	p.F15V		NM_032351.4	NP_115727.4	Q9BRJ2	RM45_HUMAN	mitochondrial ribosomal protein L45	15					intracellular protein transport|translation	mitochondrial inner membrane presequence translocase complex|ribosome	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|structural constituent of ribosome			breast(3)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	13	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TTTATCGAGGTTTTTGGGCTG	0.582000													3	52					0	0	1	0	0
GOLGA4	2803	broad.mit.edu	37	3	37285072	37285072	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SV-01A-21D-A42E-08	TCGA-XF-A9SV-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44b82f9b-d207-45e9-a872-a59812fa0b38	8af7f2bb-620e-4fb0-883b-a05bbc9ea120	g.chr3:37285072G>A	ENST00000361924.2	+	1	405	c.31G>A	c.(31-33)Gag>Aag	p.E11K	GOLGA4_ENST00000356847.4_Missense_Mutation_p.E11K|RP11-259K5.2_ENST00000604992.1_RNA|GOLGA4_ENST00000435830.2_3'UTR|GOLGA4_ENST00000444882.1_Missense_Mutation_p.E11K	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	11					Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AAAGATCAGCGAGGAGCAGCA	0.632000													19	17					0	0	1	0	0
IGHV3-64	28414	broad.mit.edu	37	14	107113835	107113835	+	RNA	SNP	C	C	T			TCGA-XF-A9SV-01A-21D-A42E-08	TCGA-XF-A9SV-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44b82f9b-d207-45e9-a872-a59812fa0b38	8af7f2bb-620e-4fb0-883b-a05bbc9ea120	g.chr14:107113835C>T	ENST00000454421.2	-	0	336																											GATGGTGAATCTGCCCTTCAC	0.493000													24	167					0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125175086	125175086	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-A9SV-01A-21D-A42E-08	TCGA-XF-A9SV-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44b82f9b-d207-45e9-a872-a59812fa0b38	8af7f2bb-620e-4fb0-883b-a05bbc9ea120	g.chr2:125175086C>T	ENST00000431078.1	+	4	812	c.448C>T	c.(448-450)Cga>Tga	p.R150*		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	150	F5/8 type C.				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)		AGTGAGAGCCCGATTTGTTCG	0.502000													3	11					0	0	1	0	0
A1CF	29974	broad.mit.edu	37	10	52573720	52573720	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SV-01A-21D-A42E-08	TCGA-XF-A9SV-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44b82f9b-d207-45e9-a872-a59812fa0b38	8af7f2bb-620e-4fb0-883b-a05bbc9ea120	g.chr10:52573720C>T	ENST00000374001.2	-	9	1359	c.1220G>A	c.(1219-1221)gGa>gAa	p.G407E	A1CF_ENST00000373997.3_Missense_Mutation_p.G407E|A1CF_ENST00000373993.1_Missense_Mutation_p.G415E|A1CF_ENST00000395489.2_Missense_Mutation_p.G408E|A1CF_ENST00000282641.2_Missense_Mutation_p.G415E|A1CF_ENST00000493415.1_5'UTR|A1CF_ENST00000395495.1_Missense_Mutation_p.G360E|ASAH2B_ENST00000483649.1_Intron|A1CF_ENST00000373995.3_Missense_Mutation_p.G415E			Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor		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						TCTTTTGTCTCCTTTGACCTG	0.498000													16	34					0	0	1	0	0
SYN3	8224	broad.mit.edu	37	22	32924934	32924934	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SV-01A-21D-A42E-08	TCGA-XF-A9SV-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44b82f9b-d207-45e9-a872-a59812fa0b38	8af7f2bb-620e-4fb0-883b-a05bbc9ea120	g.chr22:32924934G>A	ENST00000358763.2	-	11	1399	c.1157C>T	c.(1156-1158)gCc>gTc	p.A386V	SYN3_ENST00000332840.5_Missense_Mutation_p.A386V	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	386	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						AACAAGGTCGGCCATCAGCTG	0.587000											OREG0026488	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	32					0	0	1	0	0
ZNRD1-AS1	80862	broad.mit.edu	37	6	29977359	29977359	+	RNA	SNP	G	G	A	rs3831361	by1000genomes	TCGA-XF-A9SV-01A-21D-A42E-08	TCGA-XF-A9SV-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44b82f9b-d207-45e9-a872-a59812fa0b38	8af7f2bb-620e-4fb0-883b-a05bbc9ea120	g.chr6:29977359G>A	ENST00000376797.3	-	0	731				ZNRD1-AS1_ENST00000420251.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA																							ATTTGTTCATGCCTTCCCTTT	0.453000													3	38					0	0	1	0	0
OSBPL7	114881	broad.mit.edu	37	17	45891146	45891146	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SV-01A-21D-A42E-08	TCGA-XF-A9SV-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44b82f9b-d207-45e9-a872-a59812fa0b38	8af7f2bb-620e-4fb0-883b-a05bbc9ea120	g.chr17:45891146G>A	ENST00000007414.3	-	15	1597	c.1406C>T	c.(1405-1407)gCg>gTg	p.A469V	OSBPL7_ENST00000392507.3_Missense_Mutation_p.A469V	NM_145798.2	NP_665741.1	Q9BZF2	OSBL7_HUMAN	oxysterol binding protein-like 7	469					lipid transport		lipid binding			autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						CCCGCTGGCCGCCGGCAGGCA	0.662000													14	22					0	0	1	0	0
CROCCP2	84809	broad.mit.edu	37	1	16945409	16945409	+	RNA	SNP	T	T	A	rs13566		TCGA-XF-A9SV-01A-21D-A42E-08	TCGA-XF-A9SV-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44b82f9b-d207-45e9-a872-a59812fa0b38	8af7f2bb-620e-4fb0-883b-a05bbc9ea120	g.chr1:16945409T>A	ENST00000412962.1	-	0	2110																											GCGGGATAGCTCGGTGGAGAG	0.612000													8	17					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38990323	38990323	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SV-01A-21D-A42E-08	TCGA-XF-A9SV-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44b82f9b-d207-45e9-a872-a59812fa0b38	8af7f2bb-620e-4fb0-883b-a05bbc9ea120	g.chr19:38990323G>A	ENST00000355481.4	+	44	7207	c.7076G>A	c.(7075-7077)cGg>cAg	p.R2359Q	RYR1_ENST00000359596.3_Missense_Mutation_p.R2359Q|RYR1_ENST00000360985.3_Missense_Mutation_p.R2359Q	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2359	6 X approximate repeats.				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)	CTGCTCATCCGGAAGCCTGAG	0.667000													6	18					0	0	1	0	0
TRBV4-1	28617	broad.mit.edu	37	7	142013038	142013038	+	RNA	SNP	G	G	T			TCGA-XF-A9SV-01A-21D-A42E-08	TCGA-XF-A9SV-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44b82f9b-d207-45e9-a872-a59812fa0b38	8af7f2bb-620e-4fb0-883b-a05bbc9ea120	g.chr7:142013038G>T	ENST00000390357.3	+	0	32																											AGGCTAGCATGGGCTGCAGGC	0.577000													13	21					3.27435e-08	3.49474e-08	1	1	0
NIPSNAP1	8508	broad.mit.edu	37	22	29957498	29957498	+	Silent	SNP	G	G	C			TCGA-XF-A9SV-01A-21D-A42E-08	TCGA-XF-A9SV-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44b82f9b-d207-45e9-a872-a59812fa0b38	8af7f2bb-620e-4fb0-883b-a05bbc9ea120	g.chr22:29957498G>C	ENST00000216121.7	-	6	830	c.576C>G	c.(574-576)ctC>ctG	p.L192L		NM_001202502.1|NM_003634.3	NP_001189431.1|NP_003625.2	Q9BPW8	NIPS1_HUMAN	nipsnap homolog 1 (C. elegans)	192								p.?(1)		large_intestine(2)|lung(2)|skin(1)	5						GAGGCACCTTGAGCTTGTATG	0.577000													10	40					0	0	1	0	0
CDH11	1009	broad.mit.edu	37	16	65025671	65025671	+	Splice_Site	SNP	T	T	A			TCGA-XF-A9SV-01A-21D-A42E-08	TCGA-XF-A9SV-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44b82f9b-d207-45e9-a872-a59812fa0b38	8af7f2bb-620e-4fb0-883b-a05bbc9ea120	g.chr16:65025671T>A	ENST00000394156.3	-	6	1264	c.811A>T	c.(811-813)Agc>Tgc	p.S271C	CDH11_ENST00000566827.1_Splice_Site_p.S145C|CDH11_ENST00000268603.4_Splice_Site_p.S271C			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	271	Cadherin 3.			SV -> RL (in Ref. 1; AAA35622 and 5; no nucleotide entry).	adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		ACCTACTTACTCTGCGGAAAC	0.488000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			8	21					0	0	1	0	0
ECE2	9718	broad.mit.edu	37	3	184009213	184009213	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SV-01A-21D-A42E-08	TCGA-XF-A9SV-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44b82f9b-d207-45e9-a872-a59812fa0b38	8af7f2bb-620e-4fb0-883b-a05bbc9ea120	g.chr3:184009213G>A	ENST00000402825.3	+	18	2461	c.2461G>A	c.(2461-2463)Gtg>Atg	p.V821M	EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000357474.5_Missense_Mutation_p.V749M|ECE2_ENST00000359140.4_Missense_Mutation_p.V674M|ECE2_ENST00000404464.3_Missense_Mutation_p.V703M	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	821	Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity	p.V749M(1)|p.V821M(1)|p.V674M(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCTCTTCTTCGTGGGATTTGC	0.587000													11	40					0	0	1	0	0
RFX6	222546	broad.mit.edu	37	6	117250119	117250119	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-A9SV-01A-21D-A42E-08	TCGA-XF-A9SV-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44b82f9b-d207-45e9-a872-a59812fa0b38	8af7f2bb-620e-4fb0-883b-a05bbc9ea120	g.chr6:117250119C>T	ENST00000332958.2	+	18	2612	c.2596C>T	c.(2596-2598)Cga>Tga	p.R866*		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	866					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						AGTTGCATGTCGAACTCCAGT	0.403000													7	51					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11058353	11058353	+	RNA	SNP	T	T	C	rs79433933	by1000genomes	TCGA-XF-A9SV-01A-21D-A42E-08	TCGA-XF-A9SV-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44b82f9b-d207-45e9-a872-a59812fa0b38	8af7f2bb-620e-4fb0-883b-a05bbc9ea120	g.chr21:11058353T>C	ENST00000470054.1	-	0	324									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)		GAAATCTCTTTATAAAACCTT	0.343000													5	92					0	0	1	0	0
NPAS2	4862	broad.mit.edu	37	2	101611915	101611915	+	Silent	SNP	C	C	T			TCGA-XF-A9SV-01A-21D-A42E-08	TCGA-XF-A9SV-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44b82f9b-d207-45e9-a872-a59812fa0b38	8af7f2bb-620e-4fb0-883b-a05bbc9ea120	g.chr2:101611915C>T	ENST00000335681.5	+	21	2631	c.2346C>T	c.(2344-2346)tcC>tcT	p.S782S	NPAS2_ENST00000542504.1_Silent_p.S847S|AC016738.4_ENST00000452364.1_RNA	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	782					central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TACTTCTCTCCACCTACTCAC	0.577000													16	16					0	0	1	0	0
KCNN4	3783	broad.mit.edu	37	19	44284957	44284957	+	Silent	SNP	C	C	T			TCGA-XF-A9SV-01A-21D-A42E-08	TCGA-XF-A9SV-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44b82f9b-d207-45e9-a872-a59812fa0b38	8af7f2bb-620e-4fb0-883b-a05bbc9ea120	g.chr19:44284957C>T	ENST00000262888.3	-	1	452	c.57G>A	c.(55-57)ctG>ctA	p.L19L		NM_002250.2	NP_002241.1	O15554	KCNN4_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4	19					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)	TCTCCTGCTCCAGCAAGCGCT	0.662000													33	26					0	0	1	0	0
ZNF383	163087	broad.mit.edu	37	19	37733938	37733938	+	Nonsense_Mutation	SNP	C	C	G			TCGA-XF-A9SV-01A-21D-A42E-08	TCGA-XF-A9SV-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44b82f9b-d207-45e9-a872-a59812fa0b38	8af7f2bb-620e-4fb0-883b-a05bbc9ea120	g.chr19:37733938C>G	ENST00000589413.1	+	8	1383	c.800C>G	c.(799-801)tCa>tGa	p.S267*	ZNF383_ENST00000352998.3_Nonsense_Mutation_p.S267*|ZNF383_ENST00000590503.1_Nonsense_Mutation_p.S267*			Q8NA42	ZN383_HUMAN	zinc finger protein 383	267					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)	15			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGTTATTGCTCAAATCTTATT	0.393000													11	51					0	0	1	0	0
RALB	5899	broad.mit.edu	37	2	121036307	121036307	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SV-01A-21D-A42E-08	TCGA-XF-A9SV-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44b82f9b-d207-45e9-a872-a59812fa0b38	8af7f2bb-620e-4fb0-883b-a05bbc9ea120	g.chr2:121036307G>C	ENST00000272519.5	+	2	337	c.67G>C	c.(67-69)Gga>Cga	p.G23R	RALB_ENST00000470417.1_Intron|RALB_ENST00000404963.3_Missense_Mutation_p.G23R|RALB_ENST00000420510.1_Missense_Mutation_p.G23R|RALB_ENST00000474855.2_Missense_Mutation_p.G45R	NM_002881.2	NP_002872.1	P11234	RALB_HUMAN	v-ral simian leukemia viral oncogene homolog B	23					apoptosis|cell cycle|cytokinesis|nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of exocyst assembly|regulation of exocyst localization	cytosol|midbody|plasma membrane	GTP binding|GTPase activity|protein binding			endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(154;0.122)				GGTTGGCAGCGGAGGCGTTGG	0.567000													7	10					0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50450146	50450146	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9SV-01A-21D-A42E-08	TCGA-XF-A9SV-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44b82f9b-d207-45e9-a872-a59812fa0b38	8af7f2bb-620e-4fb0-883b-a05bbc9ea120	g.chr18:50450146A>G	ENST00000442544.2	+	4	1383	c.767A>G	c.(766-768)gAt>gGt	p.D256G	DCC_ENST00000412726.1_Missense_Mutation_p.D104G	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	256	Ig-like C2-type 3.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GAAGGAAAAGATGCTGTCCTG	0.423000													18	52					0	0	1	0	0
SPTAN1	6709	broad.mit.edu	37	9	131394708	131394708	+	Splice_Site	SNP	A	A	G			TCGA-XF-A9SV-01A-21D-A42E-08	TCGA-XF-A9SV-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44b82f9b-d207-45e9-a872-a59812fa0b38	8af7f2bb-620e-4fb0-883b-a05bbc9ea120	g.chr9:131394708A>G	ENST00000372739.3	+	54	7069		c.e54-1		SPTAN1_ENST00000372731.4_Splice_Site|SPTAN1_ENST00000358161.5_Splice_Site	NM_001130438.2	NP_001123910.1	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						TTTTTCTTCCAGGAACACAAC	0.562000													17	8					0	0	1	0	0
CCDC102B	79839	broad.mit.edu	37	18	66513623	66513623	+	Missense_Mutation	SNP	G	G	A	rs145012390		TCGA-XF-A9SV-01A-21D-A42E-08	TCGA-XF-A9SV-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44b82f9b-d207-45e9-a872-a59812fa0b38	8af7f2bb-620e-4fb0-883b-a05bbc9ea120	g.chr18:66513623G>A	ENST00000360242.5	+	4	1018	c.901G>A	c.(901-903)Gaa>Aaa	p.E301K	CCDC102B_ENST00000577772.1_3'UTR|CCDC102B_ENST00000358653.5_Intron|CCDC102B_ENST00000319445.6_Missense_Mutation_p.E301K|CCDC102B_ENST00000584156.1_Missense_Mutation_p.E301K	NM_024781.2	NP_079057	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	301										breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				GAAGTATGAAGAACTGAAAGA	0.348000													10	40					0	0	1	0	0
FAM160A2	84067	broad.mit.edu	37	11	6245405	6245405	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9SV-01A-21D-A42E-08	TCGA-XF-A9SV-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44b82f9b-d207-45e9-a872-a59812fa0b38	8af7f2bb-620e-4fb0-883b-a05bbc9ea120	g.chr11:6245405T>C	ENST00000265978.4	-	3	570	c.212A>G	c.(211-213)aAc>aGc	p.N71S	FAM160A2_ENST00000524416.1_Missense_Mutation_p.N71S|FAM160A2_ENST00000449352.2_Missense_Mutation_p.N71S	NM_001098794.1|NM_032127.3	NP_001092264.1|NP_115503.2	Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	71					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GTAAGTGTGGTTGCGCACAGC	0.617000													5	18					0	0	1	0	0
CCNF	899	broad.mit.edu	37	16	2488112	2488112	+	Silent	SNP	G	G	C			TCGA-XF-A9SV-01A-21D-A42E-08	TCGA-XF-A9SV-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44b82f9b-d207-45e9-a872-a59812fa0b38	8af7f2bb-620e-4fb0-883b-a05bbc9ea120	g.chr16:2488112G>C	ENST00000397066.4	+	6	670	c.582G>C	c.(580-582)ctG>ctC	p.L194L		NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F	194					cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	centriole|nucleus|SCF ubiquitin ligase complex	protein binding			breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				GCAGAGTGCTGAGTCTGTTCG	0.502000													18	67					0	0	1	0	0
SAMD4A	23034	broad.mit.edu	37	14	55243178	55243178	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SV-01A-21D-A42E-08	TCGA-XF-A9SV-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44b82f9b-d207-45e9-a872-a59812fa0b38	8af7f2bb-620e-4fb0-883b-a05bbc9ea120	g.chr14:55243178G>A	ENST00000251091.5	+	9	2005	c.1700G>A	c.(1699-1701)cGc>cAc	p.R567H	SAMD4A_ENST00000554335.1_Missense_Mutation_p.R655H|SAMD4A_ENST00000392067.3_Missense_Mutation_p.R655H|SAMD4A_ENST00000555192.1_Missense_Mutation_p.R246H|SAMD4A_ENST00000357634.3_Missense_Mutation_p.R654H	NM_001161576.2	NP_001155048.2	Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4A	655					positive regulation of translation	cell junction|cytoplasm|dendrite|synapse|synaptosome	translation repressor activity	p.R654H(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						ATGCCAAGCCGCACCCACAGC	0.602000													4	122					0	0	1	0	0
UBXN1	51035	broad.mit.edu	37	11	62444340	62444340	+	Silent	SNP	G	G	A			TCGA-XF-A9SV-01A-21D-A42E-08	TCGA-XF-A9SV-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44b82f9b-d207-45e9-a872-a59812fa0b38	8af7f2bb-620e-4fb0-883b-a05bbc9ea120	g.chr11:62444340G>A	ENST00000294119.2	-	8	920	c.789C>T	c.(787-789)ggC>ggT	p.G263G	UBXN1_ENST00000533000.1_Intron|UBXN1_ENST00000529640.1_Silent_p.G259G|UBXN1_ENST00000301935.5_Silent_p.G263G	NM_015853.3	NP_056937.2	Q04323	UBXN1_HUMAN	UBX domain protein 1	263	Interaction with BRCA1.|UBX.				negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process	cytoplasm	ATPase binding|K6-linked polyubiquitin binding			endometrium(5)|lung(12)	17						GTCTGGGGAAGCCACTGAGCA	0.612000													26	47					0	0	1	0	0
SLC26A5	375611	broad.mit.edu	37	7	103018077	103018077	+	Missense_Mutation	SNP	A	A	C			TCGA-XF-A9SV-01A-21D-A42E-08	TCGA-XF-A9SV-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44b82f9b-d207-45e9-a872-a59812fa0b38	8af7f2bb-620e-4fb0-883b-a05bbc9ea120	g.chr7:103018077A>C	ENST00000306312.3	-	18	2216	c.1955T>G	c.(1954-1956)aTt>aGt	p.I652S	SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000393727.1_Missense_Mutation_p.I654S|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000354356.4_Missense_Mutation_p.I85S|SLC26A5_ENST00000393723.1_Missense_Mutation_p.I622S|SLC26A5_ENST00000393730.1_Missense_Mutation_p.I620S|SLC26A5_ENST00000393729.1_Missense_Mutation_p.I615S|SLC26A5_ENST00000432958.2_Missense_Mutation_p.I620S|SLC26A5_ENST00000339444.6_Missense_Mutation_p.I652S	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	652	STAS.				regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						AACAGAATCAATAAAATTGAC	0.418000													13	53					0	0	1	0	0
ANO3	63982	broad.mit.edu	37	11	26538474	26538474	+	Splice_Site	SNP	G	G	A			TCGA-XF-A9SV-01A-21D-A42E-08	TCGA-XF-A9SV-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44b82f9b-d207-45e9-a872-a59812fa0b38	8af7f2bb-620e-4fb0-883b-a05bbc9ea120	g.chr11:26538474G>A	ENST00000256737.3	+	6	1544	c.692G>A	c.(691-693)aGg>aAg	p.R231K	ANO3_ENST00000525139.1_Splice_Site_p.R215K|ANO3_ENST00000537978.1_Splice_Site_p.R215K|ANO3_ENST00000531568.1_Splice_Site_p.R85K	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	231						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						ATGCCCTTCAGGTACTTTCAA	0.373000													20	9					0	0	1	0	0
ARAP1	116985	broad.mit.edu	37	11	72421490	72421490	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SV-01A-21D-A42E-08	TCGA-XF-A9SV-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44b82f9b-d207-45e9-a872-a59812fa0b38	8af7f2bb-620e-4fb0-883b-a05bbc9ea120	g.chr11:72421490G>C	ENST00000359373.5	-	10	2207	c.1356C>G	c.(1354-1356)ttC>ttG	p.F452L	ARAP1_ENST00000334211.8_Missense_Mutation_p.F207L|ARAP1_ENST00000393605.3_Missense_Mutation_p.F212L|ARAP1_ENST00000393609.3_Missense_Mutation_p.F452L|ARAP1_ENST00000426523.1_Missense_Mutation_p.F207L|ARAP1_ENST00000429686.1_Missense_Mutation_p.F207L|ARAP1_ENST00000455638.2_Missense_Mutation_p.F452L			Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	452	PH 2.				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						GCTTATTCTTGAAGCCACGAA	0.607000													58	23					0	0	1	0	0
RIPPLY3	53820	broad.mit.edu	37	21	38390386	38390386	+	Missense_Mutation	SNP	A	A	C			TCGA-XF-A9SV-01A-21D-A42E-08	TCGA-XF-A9SV-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44b82f9b-d207-45e9-a872-a59812fa0b38	8af7f2bb-620e-4fb0-883b-a05bbc9ea120	g.chr21:38390386A>C	ENST00000329553.2	+	4	662	c.452A>C	c.(451-453)aAg>aCg	p.K151T	RIPPLY3_ENST00000485272.1_3'UTR	NM_018962.2	NP_061835.1			ripply transcriptional repressor 3																		CCAGGGGGAAAGGGCAGAGAC	0.647000													4	26					0	0	1	0	0
ACSM2A	123876	broad.mit.edu	37	16	20481009	20481009	+	Silent	SNP	T	T	C	rs139070345	by1000genomes	TCGA-XF-A9SV-01A-21D-A42E-08	TCGA-XF-A9SV-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44b82f9b-d207-45e9-a872-a59812fa0b38	8af7f2bb-620e-4fb0-883b-a05bbc9ea120	g.chr16:20481009T>C	ENST00000573854.1	+	4	678	c.564T>C	c.(562-564)tgT>tgC	p.C188C	ACSM2A_ENST00000396104.2_Silent_p.C188C|ACSM2A_ENST00000575690.1_Silent_p.C188C|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000536134.1_5'UTR|ACSM2A_ENST00000424070.1_Silent_p.C188C|ACSM2A_ENST00000219054.6_Silent_p.C188C|ACSM2A_ENST00000417235.2_Silent_p.C109C	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	188					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						AGAAAAGCTGTGATGGGTGGC	0.443000													6	194					0	0	1	0	0
RBM23	55147	broad.mit.edu	37	14	23374586	23374586	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SV-01A-21D-A42E-08	TCGA-XF-A9SV-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44b82f9b-d207-45e9-a872-a59812fa0b38	8af7f2bb-620e-4fb0-883b-a05bbc9ea120	g.chr14:23374586G>A	ENST00000359890.3	-	7	727	c.532C>T	c.(532-534)Cgg>Tgg	p.R178W	RBM23_ENST00000555209.1_5'UTR|RBM23_ENST00000346528.5_Missense_Mutation_p.R144W|RBM23_ENST00000399922.2_Missense_Mutation_p.R162W|RBM23_ENST00000542016.2_Missense_Mutation_p.R8W	NM_001077351.1	NP_001070819.1	Q86U06	RBM23_HUMAN	RNA binding motif protein 23	178	RRM 1.				mRNA processing	nucleus	nucleotide binding|RNA binding			endometrium(3)|kidney(2)|lung(3)|prostate(1)|skin(1)	10	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.0128)		TCTCGAGGCCGAATTCGGGCA	0.488000													11	52					0	0	1	0	0
PLXNA1	5361	broad.mit.edu	37	3	126707544	126707544	+	Silent	SNP	T	T	G			TCGA-XF-A9SV-01A-21D-A42E-08	TCGA-XF-A9SV-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44b82f9b-d207-45e9-a872-a59812fa0b38	8af7f2bb-620e-4fb0-883b-a05bbc9ea120	g.chr3:126707544T>G	ENST00000393409.2	+	1	108	c.108T>G	c.(106-108)ggT>ggG	p.G36G	PLXNA1_ENST00000251772.4_Silent_p.G13G	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	36	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	p.G13G(4)		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)		CAGGCGGGGGTTCACAGCCCC	0.682000													8	16					0	0	1	0	0
MBOAT2	129642	broad.mit.edu	37	2	9083348	9083348	+	Silent	SNP	G	G	T			TCGA-XF-A9SV-01A-21D-A42E-08	TCGA-XF-A9SV-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44b82f9b-d207-45e9-a872-a59812fa0b38	8af7f2bb-620e-4fb0-883b-a05bbc9ea120	g.chr2:9083348G>T	ENST00000305997.3	-	3	465	c.267C>A	c.(265-267)atC>atA	p.I89I	MBOAT2_ENST00000486484.1_5'UTR	NM_138799.2	NP_620154.2	Q6ZWT7	MBOA2_HUMAN	membrane bound O-acyltransferase domain containing 2	89					phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity		MBOAT2/PRKCE(2)	endometrium(2)|kidney(1)|large_intestine(9)|lung(2)|skin(1)	15	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TGATGATCATGATACAGTAGG	0.338000													31	963					1.2476e-16	1.39882e-16	1	1	0
VPS13C	54832	broad.mit.edu	37	15	62300908	62300908	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SV-01A-21D-A42E-08	TCGA-XF-A9SV-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44b82f9b-d207-45e9-a872-a59812fa0b38	8af7f2bb-620e-4fb0-883b-a05bbc9ea120	g.chr15:62300908G>A	ENST00000261517.5	-	14	1137	c.1064C>T	c.(1063-1065)gCg>gTg	p.A355V	VPS13C_ENST00000249837.3_Missense_Mutation_p.A312V|VPS13C_ENST00000395896.4_Missense_Mutation_p.A355V|VPS13C_ENST00000395898.3_Missense_Mutation_p.A312V	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	355					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						CCTATAAGGCGCATTCCTAAC	0.289000													4	155					0	0	1	0	0
COL4A1	1282	broad.mit.edu	37	13	110847443	110847443	+	Silent	SNP	G	G	A			TCGA-XF-A9SV-01A-21D-A42E-08	TCGA-XF-A9SV-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44b82f9b-d207-45e9-a872-a59812fa0b38	8af7f2bb-620e-4fb0-883b-a05bbc9ea120	g.chr13:110847443G>A	ENST00000375820.4	-	22	1429	c.1308C>T	c.(1306-1308)ccC>ccT	p.P436P	COL4A1_ENST00000543140.1_Silent_p.P436P	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	436	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CTGGAGGTCCGGGCTGACATT	0.413000													5	18					0	0	1	0	0
IFNA5	3442	broad.mit.edu	37	9	21305192	21305192	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SV-01A-21D-A42E-08	TCGA-XF-A9SV-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44b82f9b-d207-45e9-a872-a59812fa0b38	8af7f2bb-620e-4fb0-883b-a05bbc9ea120	g.chr9:21305192G>C	ENST00000259555.4	-	1	120	c.64C>G	c.(64-66)Ctg>Gtg	p.L22V		NM_002169.2	NP_002160.1	P01569	IFNA5_HUMAN	interferon, alpha 5	22					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7				Lung(24;2.34e-24)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		TCACAGCCCAGAGAACAGATT	0.507000													18	34					0	0	1	0	0
LONRF2	164832	broad.mit.edu	37	2	100919382	100919382	+	Splice_Site	SNP	C	C	G			TCGA-XF-A9SV-01A-21D-A42E-08	TCGA-XF-A9SV-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44b82f9b-d207-45e9-a872-a59812fa0b38	8af7f2bb-620e-4fb0-883b-a05bbc9ea120	g.chr2:100919382C>G	ENST00000393437.3	-	3	1561		c.e3+1		LONRF2_ENST00000409647.1_Splice_Site	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger 2						proteolysis		ATP-dependent peptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						AGAACTCATACCTTCTGTGCT	0.368000													17	11					0	0	1	0	0
ADAM23	8745	broad.mit.edu	37	2	207408040	207408040	+	Splice_Site	SNP	G	G	A			TCGA-XF-A9SV-01A-21D-A42E-08	TCGA-XF-A9SV-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44b82f9b-d207-45e9-a872-a59812fa0b38	8af7f2bb-620e-4fb0-883b-a05bbc9ea120	g.chr2:207408040G>A	ENST00000264377.3	+	6	1048	c.720G>A	c.(718-720)gaG>gaA	p.E240E	ADAM23_ENST00000374416.1_Splice_Site_p.E240E|ADAM23_ENST00000374415.3_Splice_Site_p.E240E	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	240					cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		TTCATGATGAGGTGAGTCTAT	0.423000													7	30					0	0	1	0	0
LRIT2	340745	broad.mit.edu	37	10	85984762	85984762	+	Silent	SNP	C	C	G			TCGA-XF-A9SV-01A-21D-A42E-08	TCGA-XF-A9SV-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44b82f9b-d207-45e9-a872-a59812fa0b38	8af7f2bb-620e-4fb0-883b-a05bbc9ea120	g.chr10:85984762C>G	ENST00000372113.4	-	2	224	c.219G>C	c.(217-219)ggG>ggC	p.G73G	LRIT2_ENST00000538192.1_Silent_p.G73G	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	73						integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						TGATGAAAGACCCTTGGGGCA	0.463000													17	39					0	0	1	0	0
TBC1D1	23216	broad.mit.edu	37	4	38016153	38016153	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SV-01A-21D-A42E-08	TCGA-XF-A9SV-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44b82f9b-d207-45e9-a872-a59812fa0b38	8af7f2bb-620e-4fb0-883b-a05bbc9ea120	g.chr4:38016153C>G	ENST00000261439.4	+	3	796	c.441C>G	c.(439-441)atC>atG	p.I147M	TBC1D1_ENST00000508802.1_Missense_Mutation_p.I147M	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	147						nucleus	Rab GTPase activator activity			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						TCAGCTCCATCCGTCAGGCGG	0.582000													26	42					0	0	1	0	0
ZNF644	84146	broad.mit.edu	37	1	91406361	91406361	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SV-01A-21D-A42E-08	TCGA-XF-A9SV-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44b82f9b-d207-45e9-a872-a59812fa0b38	8af7f2bb-620e-4fb0-883b-a05bbc9ea120	g.chr1:91406361C>T	ENST00000370440.1	-	3	767	c.550G>A	c.(550-552)Gct>Act	p.A184T	ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000337393.5_Missense_Mutation_p.A184T			Q9H582	ZN644_HUMAN	zinc finger protein 644	184					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		GGATTCTTAGCATGTGCTACA	0.393000													15	121					0	0	1	0	0
CDKL1	8814	broad.mit.edu	37	14	50807749	50807749	+	Splice_Site	SNP	C	C	A			TCGA-XF-A9SV-01A-21D-A42E-08	TCGA-XF-A9SV-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44b82f9b-d207-45e9-a872-a59812fa0b38	8af7f2bb-620e-4fb0-883b-a05bbc9ea120	g.chr14:50807749C>A	ENST00000216378.2	-	6	1303		c.e6+1		CDKL1_ENST00000395834.1_Splice_Site|CDKL1_ENST00000356146.1_Splice_Site	NM_001282236.1	NP_001269165.1	Q00532	CDKL1_HUMAN	cyclin-dependent kinase-like 1 (CDC2-related kinase)							cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity			endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|stomach(1)	12	all_epithelial(31;0.000746)|Breast(41;0.0102)					ACACCACTTACCCAAGGTCTT	0.507000													3	21					0.115264	0.116312	1	1	0
ZNF536	9745	broad.mit.edu	37	19	30935048	30935048	+	Silent	SNP	C	C	T			TCGA-XF-A9SV-01A-21D-A42E-08	TCGA-XF-A9SV-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44b82f9b-d207-45e9-a872-a59812fa0b38	8af7f2bb-620e-4fb0-883b-a05bbc9ea120	g.chr19:30935048C>T	ENST00000355537.3	+	2	726	c.579C>T	c.(577-579)cgC>cgT	p.R193R		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	193					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)					GGCGTGTGCGCGAGGAGAACC	0.692000													4	9					0	0	1	0	0
FGFR3	2261	broad.mit.edu	37	4	1803568	1803568	+	Missense_Mutation	SNP	C	C	G	rs121913483		TCGA-XF-A9SV-01A-21D-A42E-08	TCGA-XF-A9SV-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44b82f9b-d207-45e9-a872-a59812fa0b38	8af7f2bb-620e-4fb0-883b-a05bbc9ea120	g.chr4:1803568C>G	ENST00000340107.4	+	7	1002	c.746C>G	c.(745-747)tCc>tGc	p.S249C	FGFR3_ENST00000481110.2_Missense_Mutation_p.S249C|FGFR3_ENST00000412135.2_Missense_Mutation_p.S249C|FGFR3_ENST00000440486.2_Missense_Mutation_p.S249C|FGFR3_ENST00000260795.2_Missense_Mutation_p.S249C|FGFR3_ENST00000352904.1_Missense_Mutation_p.S249C|FGFR3_ENST00000474521.1_3'UTR	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	249			S -> C (in KERSEB, bladder cancer, cervical cancer and TD1).		bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	p.S249C(1204)|p.R248_S249del(1)		NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	ACAGAGCGCTCCCCGCACCGG	0.736000		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome				8	12					0	0	1	0	0
HEY2	23493	broad.mit.edu	37	6	126080649	126080649	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-A9SV-01A-21D-A42E-08	TCGA-XF-A9SV-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44b82f9b-d207-45e9-a872-a59812fa0b38	8af7f2bb-620e-4fb0-883b-a05bbc9ea120	g.chr6:126080649C>T	ENST00000368364.3	+	5	912	c.715C>T	c.(715-717)Cga>Tga	p.R239*	HEY2_ENST00000368365.1_Nonsense_Mutation_p.R193*	NM_012259.2	NP_036391.1	Q9UBP5	HEY2_HUMAN	hes-related family bHLH transcription factor with YRPW motif 2	239					negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent	transcriptional repressor complex	histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding			breast(1)|large_intestine(7)|lung(5)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		TTCAGCCCTCCGAATGCCATC	0.652000													5	125					0	0	1	0	0
TRBV6-7	28600	broad.mit.edu	37	7	142143882	142143882	+	RNA	SNP	C	C	A			TCGA-XF-A9SV-01A-21D-A42E-08	TCGA-XF-A9SV-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44b82f9b-d207-45e9-a872-a59812fa0b38	8af7f2bb-620e-4fb0-883b-a05bbc9ea120	g.chr7:142143882C>A	ENST00000390373.2	-	0	113																											ACAGCAGAGTCATGCTCTGTC	0.507000													31	59					1.39806e-14	1.55184e-14	1	1	0
PTGS2	5743	broad.mit.edu	37	1	186646844	186646844	+	Silent	SNP	C	C	T			TCGA-XF-A9SV-01A-21D-A42E-08	TCGA-XF-A9SV-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44b82f9b-d207-45e9-a872-a59812fa0b38	8af7f2bb-620e-4fb0-883b-a05bbc9ea120	g.chr1:186646844C>T	ENST00000367468.5	-	5	712	c.576G>A	c.(574-576)acG>acA	p.T192T	PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	192					cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)	AAAACTGATGCGTGAAGTGCT	0.418000													7	49					0	0	1	0	0
ZNF765	91661	broad.mit.edu	37	19	53911282	53911282	+	Silent	SNP	G	G	A			TCGA-XF-A9SV-01A-21D-A42E-08	TCGA-XF-A9SV-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44b82f9b-d207-45e9-a872-a59812fa0b38	8af7f2bb-620e-4fb0-883b-a05bbc9ea120	g.chr19:53911282G>A	ENST00000396408.3	+	4	591	c.474G>A	c.(472-474)gaG>gaA	p.E158E	ZNF765_ENST00000594030.1_Intron	NM_001040185.1	NP_001035275.1	Q7L2R6	ZN765_HUMAN	zinc finger protein 765	158					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(3)	4				GBM - Glioblastoma multiforme(134;0.00379)		ACACTGAAGAGAAAATTGATA	0.378000													81	69					0	0	1	0	0
SON	6651	broad.mit.edu	37	21	34926190	34926190	+	Silent	SNP	T	T	C			TCGA-XF-A9SV-01A-21D-A42E-08	TCGA-XF-A9SV-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44b82f9b-d207-45e9-a872-a59812fa0b38	8af7f2bb-620e-4fb0-883b-a05bbc9ea120	g.chr21:34926190T>C	ENST00000356577.4	+	3	5128	c.4653T>C	c.(4651-4653)tgT>tgC	p.C1551C	SON_ENST00000290239.6_Silent_p.C1551C|SON_ENST00000381679.4_Silent_p.C1551C|SON_ENST00000300278.4_Silent_p.C1551C|SON_ENST00000381692.2_Intron	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	1551					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						ATACAGTGTGTGCTGCTGGTA	0.378000													12	32					0	0	1	0	0
TECR	9524	broad.mit.edu	37	19	14674037	14674037	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9SV-01A-21D-A42E-08	TCGA-XF-A9SV-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44b82f9b-d207-45e9-a872-a59812fa0b38	8af7f2bb-620e-4fb0-883b-a05bbc9ea120	g.chr19:14674037T>C	ENST00000436007.2	+	4	255	c.131T>C	c.(130-132)aTt>aCt	p.I44T	TECR_ENST00000600083.1_5'UTR|TECR_ENST00000215567.5_Missense_Mutation_p.I29T|TECR_ENST00000596073.1_5'UTR|TECR_ENST00000596164.1_3'UTR			Q9NZ01	TECR_HUMAN	trans-2,3-enoyl-CoA reductase	29					fatty acid elongation|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	trans-2-enoyl-CoA reductase (NADPH) activity|very long-chain-acyl-CoA dehydrogenase activity			endometrium(1)|large_intestine(1)|ovary(1)	3						CACGCCACCATTGCGGAGATC	0.622000													6	12					0	0	1	0	0
SEPT7P9	285961	broad.mit.edu	37	10	38681008	38681008	+	RNA	SNP	C	C	G			TCGA-XF-A9SV-01A-21D-A42E-08	TCGA-XF-A9SV-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44b82f9b-d207-45e9-a872-a59812fa0b38	8af7f2bb-620e-4fb0-883b-a05bbc9ea120	g.chr10:38681008C>G	ENST00000489259.1	-	0	385																											AGGTAGTCCTCAAATTTACTA	0.378000													13	38					0	0	1	0	0
ARL13A	392509	broad.mit.edu	37	X	100242379	100242379	+	Splice_Site	SNP	G	G	A			TCGA-XF-A9SV-01A-21D-A42E-08	TCGA-XF-A9SV-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44b82f9b-d207-45e9-a872-a59812fa0b38	8af7f2bb-620e-4fb0-883b-a05bbc9ea120	g.chrX:100242379G>A	ENST00000450049.2	+	6	600	c.487G>A	c.(487-489)Gag>Aag	p.E163K		NM_001162491.1	NP_001155963.1	Q5H913	AR13A_HUMAN	ADP-ribosylation factor-like 13A	163							GTP binding			endometrium(1)|ovary(1)	2						TTTGTCACAGGAGCCATGTTC	0.498000													17	5					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882340	228882340	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SV-01A-21D-A42E-08	TCGA-XF-A9SV-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44b82f9b-d207-45e9-a872-a59812fa0b38	8af7f2bb-620e-4fb0-883b-a05bbc9ea120	g.chr2:228882340C>T	ENST00000392056.3	-	7	3276	c.3230G>A	c.(3229-3231)cGg>cAg	p.R1077Q	SPHKAP_ENST00000344657.5_Missense_Mutation_p.R1077Q	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1077						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GGCCTTCAGCCGGCTCCACCT	0.602000													5	23					0	0	1	0	0
KDM2A	22992	broad.mit.edu	37	11	66888808	66888808	+	Silent	SNP	G	G	A			TCGA-XF-A9SV-01A-21D-A42E-08	TCGA-XF-A9SV-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44b82f9b-d207-45e9-a872-a59812fa0b38	8af7f2bb-620e-4fb0-883b-a05bbc9ea120	g.chr11:66888808G>A	ENST00000529006.2	+	2	467	c.21G>A	c.(19-21)agG>agA	p.R7R	KDM2A_ENST00000398645.2_Silent_p.R7R	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	7					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						AAGAAGAAAGGATTCGTTACA	0.428000													18	14					0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131861910	131861910	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9SV-01A-21D-A42E-08	TCGA-XF-A9SV-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44b82f9b-d207-45e9-a872-a59812fa0b38	8af7f2bb-620e-4fb0-883b-a05bbc9ea120	g.chr8:131861910C>A	ENST00000286355.5	-	10	4442	c.2350G>T	c.(2350-2352)Gcc>Tcc	p.A784S	ADCY8_ENST00000377928.3_Intron	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	784					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			ACGTTCCGGGCCAAATAGGTC	0.468000										HNSCC(32;0.087)			14	46					4.3838e-07	4.6343e-07	1	1	0
GRM5	2915	broad.mit.edu	37	11	88300723	88300723	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9SV-01A-21D-A42E-08	TCGA-XF-A9SV-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44b82f9b-d207-45e9-a872-a59812fa0b38	8af7f2bb-620e-4fb0-883b-a05bbc9ea120	g.chr11:88300723C>A	ENST00000418177.2	-	8	2495	c.2128G>T	c.(2128-2130)Gcc>Tcc	p.A710S	GRM5_ENST00000455756.2_Missense_Mutation_p.A710S|GRM5_ENST00000393297.1_Missense_Mutation_p.A710S|GRM5_ENST00000305432.5_Missense_Mutation_p.A710S|GRM5_ENST00000305447.4_Missense_Mutation_p.A710S			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	710					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)	ATAAAGAGGGCAACGATGATG	0.463000													8	38					0.00307968	0.00316523	1	1	0
CNGB3	54714	broad.mit.edu	37	8	87683187	87683187	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9SV-01A-21D-A42E-08	TCGA-XF-A9SV-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44b82f9b-d207-45e9-a872-a59812fa0b38	8af7f2bb-620e-4fb0-883b-a05bbc9ea120	g.chr8:87683187C>A	ENST00000320005.5	-	4	525	c.478G>T	c.(478-480)Gcc>Tcc	p.A160S		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	160					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						TGTGGGCTGGCTTCGGGTGAG	0.493000													77	96					5.02462e-34	5.74983e-34	1	1	0
ODF3L2	284451	broad.mit.edu	37	19	463990	463990	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SV-01A-21D-A42E-08	TCGA-XF-A9SV-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44b82f9b-d207-45e9-a872-a59812fa0b38	8af7f2bb-620e-4fb0-883b-a05bbc9ea120	g.chr19:463990C>T	ENST00000315489.4	-	4	959	c.724G>A	c.(724-726)Gcc>Acc	p.A242T	ODF3L2_ENST00000382696.3_Missense_Mutation_p.A206T	NM_182577.2	NP_872383.1	Q3SX64	OD3L2_HUMAN	outer dense fiber of sperm tails 3-like 2	242	Pro-rich.									large_intestine(1)|lung(2)	3						GGGCAGTGGGCGCCAGGGCCG	0.711000													5	5					0	0	1	0	0
ACSM2B	348158	broad.mit.edu	37	16	20565116	20565116	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9SV-01A-21D-A42E-08	TCGA-XF-A9SV-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44b82f9b-d207-45e9-a872-a59812fa0b38	8af7f2bb-620e-4fb0-883b-a05bbc9ea120	g.chr16:20565116C>A	ENST00000329697.6	-	5	891	c.723G>T	c.(721-723)aaG>aaT	p.K241N	ACSM2B_ENST00000567288.1_5'UTR|ACSM2B_ENST00000565232.1_Missense_Mutation_p.K241N|ACSM2B_ENST00000565322.1_Missense_Mutation_p.K162N|ACSM2B_ENST00000567001.1_Missense_Mutation_p.K241N	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	241					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						CCATCTTGGCCTTGAGGCCCA	0.517000													18	43					1.96895e-08	2.12188e-08	1	1	0
ADAMTS17	170691	broad.mit.edu	37	15	100636625	100636625	+	Silent	SNP	G	G	A			TCGA-XF-A9SV-01A-21D-A42E-08	TCGA-XF-A9SV-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44b82f9b-d207-45e9-a872-a59812fa0b38	8af7f2bb-620e-4fb0-883b-a05bbc9ea120	g.chr15:100636625G>A	ENST00000268070.4	-	15	2178	c.2073C>T	c.(2071-2073)gtC>gtT	p.V691V		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	691	Cys-rich.				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)		CCCCGCTGCAGACCCCGCATC	0.587000													17	70					0	0	1	0	0
APBB1IP	54518	broad.mit.edu	37	10	26830540	26830540	+	Silent	SNP	G	G	A			TCGA-XF-A9SV-01A-21D-A42E-08	TCGA-XF-A9SV-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44b82f9b-d207-45e9-a872-a59812fa0b38	8af7f2bb-620e-4fb0-883b-a05bbc9ea120	g.chr10:26830540G>A	ENST00000376236.4	+	11	1529	c.1074G>A	c.(1072-1074)caG>caA	p.Q358Q		NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	358	PH.				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						GTTTTATACAGTTTGAAAATG	0.338000													8	26					0	0	1	0	0
TMED2	10959	broad.mit.edu	37	12	124069350	124069350	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9SV-01A-21D-A42E-08	TCGA-XF-A9SV-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44b82f9b-d207-45e9-a872-a59812fa0b38	8af7f2bb-620e-4fb0-883b-a05bbc9ea120	g.chr12:124069350A>G	ENST00000262225.3	+	1	273	c.167A>G	c.(166-168)gAc>gGc	p.D56G	RP11-486O12.2_ENST00000498967.2_lincRNA	NM_006815.3	NP_006806.1	Q15363	TMED2_HUMAN	transmembrane emp24 domain trafficking protein 2	56	GOLD.				protein transport|vesicle-mediated transport	COPI coated vesicle membrane|ER-Golgi intermediate compartment|integral to membrane|microsome|zymogen granule membrane	protein binding			kidney(1)|large_intestine(4)|lung(1)|prostate(1)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000138)|Epithelial(86;0.000613)|all cancers(50;0.00745)		GGCTTCCTGGACATCGACGTG	0.667000													19	46					0	0	1	0	0
OPN1SW	611	broad.mit.edu	37	7	128413755	128413755	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SV-01A-21D-A42E-08	TCGA-XF-A9SV-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44b82f9b-d207-45e9-a872-a59812fa0b38	8af7f2bb-620e-4fb0-883b-a05bbc9ea120	g.chr7:128413755G>A	ENST00000249389.2	-	4	874	c.875C>T	c.(874-876)tCc>tTc	p.S292F		NM_001708.2	NP_001699.1	P03999	OPSB_HUMAN	opsin 1 (cone pigments), short-wave-sensitive	292					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|stomach(1)	19						AGCACTCTTGGAGAAGAATGA	0.478000													6	24					0	0	1	0	0
MYBL1	4603	broad.mit.edu	37	8	67504726	67504726	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SV-01A-21D-A42E-08	TCGA-XF-A9SV-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44b82f9b-d207-45e9-a872-a59812fa0b38	8af7f2bb-620e-4fb0-883b-a05bbc9ea120	g.chr8:67504726C>G	ENST00000522677.3	-	8	1226	c.816G>C	c.(814-816)gaG>gaC	p.E272D	MYBL1_ENST00000524176.2_Missense_Mutation_p.E272D|MYBL1_ENST00000517885.1_Intron	NM_001080416.2|NM_001144755.1	NP_001073885.1|NP_001138227.1	P10243	MYBA_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 1	272	Transcriptional activation domain (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.E272D(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|skin(1)	25			Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)			TAAGAAGCATCTCAAGTTCCT	0.303000													14	55					0	0	1	0	0
FEZF1	389549	broad.mit.edu	37	7	121942209	121942209	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SV-01A-21D-A42E-08	TCGA-XF-A9SV-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44b82f9b-d207-45e9-a872-a59812fa0b38	8af7f2bb-620e-4fb0-883b-a05bbc9ea120	g.chr7:121942209C>T	ENST00000442488.2	-	4	1337	c.1270G>A	c.(1270-1272)Gac>Aac	p.D424N	FEZF1_ENST00000331178.4_Missense_Mutation_p.D420N|FEZF1_ENST00000427185.2_Missense_Mutation_p.D374N	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	424					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						AGGCTGCTGTCGTGCAGCTTG	0.647000													33	46					0	0	1	0	0
ANKRD30BL	554226	broad.mit.edu	37	2	132914577	132914577	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SV-01A-21D-A42E-08	TCGA-XF-A9SV-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44b82f9b-d207-45e9-a872-a59812fa0b38	8af7f2bb-620e-4fb0-883b-a05bbc9ea120	g.chr2:132914577G>A	ENST00000409867.1	-	3	725	c.476C>T	c.(475-477)tCc>tTc	p.S159F	ANKRD30BL_ENST00000470729.1_5'UTR					ankyrin repeat domain 30B-like											endometrium(1)|kidney(3)	4						TGCACCACAGGACAGCAATTT	0.353000													3	5					0	0	1	0	0
VPS35	55737	broad.mit.edu	37	16	46696329	46696329	+	Silent	SNP	G	G	A			TCGA-XF-A9SV-01A-21D-A42E-08	TCGA-XF-A9SV-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44b82f9b-d207-45e9-a872-a59812fa0b38	8af7f2bb-620e-4fb0-883b-a05bbc9ea120	g.chr16:46696329G>A	ENST00000299138.7	-	15	1951	c.1893C>T	c.(1891-1893)atC>atT	p.I631I		NM_018206.4	NP_060676.2	Q96QK1	VPS35_HUMAN	vacuolar protein sorting 35 homolog (S. cerevisiae)	631					protein transport|retrograde transport, endosome to Golgi	cytosol|endosome|membrane	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1)	23		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				AAGTGCCAATGATCAAGGTGA	0.438000													9	39					0	0	1	0	0
TNRC18	84629	broad.mit.edu	37	7	5428796	5428796	+	Frame_Shift_Del	DEL	A	A	-			TCGA-XF-A9SV-01A-21D-A42E-08	TCGA-XF-A9SV-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44b82f9b-d207-45e9-a872-a59812fa0b38	8af7f2bb-620e-4fb0-883b-a05bbc9ea120	g.chr7:5428796delA	ENST00000399537.4	-	5	1007	c.659delT	c.(658-660)ttcfs	p.F220fs	TNRC18_ENST00000430969.1_Frame_Shift_Del_p.F220fs			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	220							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CTTCTTGCCGAAAAGCGGAGG	0.801													2	4	---	---	---	---					
PSIP1	11168	broad.mit.edu	37	9	15474049	15474050	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-XF-A9SV-01A-21D-A42E-08	TCGA-XF-A9SV-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44b82f9b-d207-45e9-a872-a59812fa0b38	8af7f2bb-620e-4fb0-883b-a05bbc9ea120	g.chr9:15474049_15474050delGG	ENST00000380733.4	-	9	1158_1159	c.815_816delCC	c.(814-816)accfs	p.T272fs	PSIP1_ENST00000397519.2_Frame_Shift_Del_p.T272fs|PSIP1_ENST00000380715.1_Frame_Shift_Del_p.T272fs|PSIP1_ENST00000380716.4_Frame_Shift_Del_p.T272fs|PSIP1_ENST00000380738.4_Frame_Shift_Del_p.T272fs			O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1	272				T -> P (in Ref. 8; AAB52589).	initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|transcriptionally active chromatin	activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		CAGAATCGGAGGTTGAAGTAAC	0.317													13	23	---	---	---	---					
RPS6	6194	broad.mit.edu	37	9	19378706	19378707	+	Splice_Site	INS	-	-	T	rs34590252		TCGA-XF-A9SV-01A-21D-A42E-08	TCGA-XF-A9SV-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44b82f9b-d207-45e9-a872-a59812fa0b38	8af7f2bb-620e-4fb0-883b-a05bbc9ea120	g.chr9:19378706_19378707insT	ENST00000380394.4	-	3	406_407	c.348_349insA	c.(346-351)aaagga>aaaAgga	p.G117fs	RPS6_ENST00000380384.1_Splice_Site_p.G86fs|RPS6_ENST00000315377.4_Splice_Site_p.G86fs	NM_001010.2	NP_001001.2	P62753	RS6_HUMAN	ribosomal protein S6	117					endocrine pancreas development|glucose homeostasis|insulin receptor signaling pathway|positive regulation of apoptosis|rRNA processing|TOR signaling cascade|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	protein binding			endometrium(3)|lung(2)|ovary(1)|urinary_tract(1)	7		Colorectal(97;3.46e-05)|Myeloproliferative disorder(762;0.0255)		Lung(42;0.161)|LUSC - Lung squamous cell carcinoma(42;0.234)		TAACCCTCACCTTTTTTTACAA	0.376													15	39	---	---	---	---					
CHST15	51363	broad.mit.edu	37	10	125780764	125780765	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-XF-A9SV-01A-21D-A42E-08	TCGA-XF-A9SV-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44b82f9b-d207-45e9-a872-a59812fa0b38	8af7f2bb-620e-4fb0-883b-a05bbc9ea120	g.chr10:125780764_125780765delGT	ENST00000421115.1	-	6	2087_2088	c.1354_1355delAC	c.(1354-1356)accfs	p.T452fs	CHST15_ENST00000435907.1_Intron|CHST15_ENST00000346248.5_Intron	NM_001270765.1|NM_014863.3	NP_001257694.1|NP_055678.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	0					hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						GGGGGGGGGGGTACACACAGGC	0.540													2	4	---	---	---	---					
RP11-863P13.2	0	broad.mit.edu	37	16	88226611	88226611	+	RNA	DEL	G	G	-			TCGA-XF-A9SV-01A-21D-A42E-08	TCGA-XF-A9SV-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44b82f9b-d207-45e9-a872-a59812fa0b38	8af7f2bb-620e-4fb0-883b-a05bbc9ea120	g.chr16:88226611delG	ENST00000568587.1	-	0	91																											tggtggtgatggtggtgatgg	0.522													2	4	---	---	---	---					
MAP2K2	5605	broad.mit.edu	37	19	4123861	4123861	+	Frame_Shift_Del	DEL	C	C	-			TCGA-XF-A9SV-01A-21D-A42E-08	TCGA-XF-A9SV-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44b82f9b-d207-45e9-a872-a59812fa0b38	8af7f2bb-620e-4fb0-883b-a05bbc9ea120	g.chr19:4123861delC	ENST00000262948.5	-	1	265	c.12delG	c.(10-12)cggfs	p.R5fs	MAP2K2_ENST00000599345.1_5'UTR|MAP2K2_ENST00000394867.4_Intron	NM_030662.3	NP_109587.1	P36507	MP2K2_HUMAN	mitogen-activated protein kinase kinase 2	5					activation of MAPK activity|activation of MAPKK activity|axon guidance|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|extracellular region	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity						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)		CCGGCTTCCTCCGGGCCAGCA	0.776													2	4	---	---	---	---					
CTCFL	140690	broad.mit.edu	37	20	56099187	56099187	+	Frame_Shift_Del	DEL	T	T	-			TCGA-XF-A9SV-01A-21D-A42E-08	TCGA-XF-A9SV-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44b82f9b-d207-45e9-a872-a59812fa0b38	8af7f2bb-620e-4fb0-883b-a05bbc9ea120	g.chr20:56099187delT	ENST00000608263.1	-	1	736	c.75delA	c.(73-75)aaafs	p.K25fs	CTCFL_ENST00000608425.1_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000481655.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000371196.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000432255.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000608903.1_Intron|CTCFL_ENST00000608440.1_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000429804.3_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000422869.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000608858.1_Intron|CTCFL_ENST00000608158.1_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000243914.3_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000423479.3_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000433949.3_Intron|CTCFL_ENST00000609232.1_Frame_Shift_Del_p.K25fs	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like						cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			CCTTCAGGCCTTTTTCCGGCA	0.502													12	375	---	---	---	---					
LA16c-23H5.4	0	broad.mit.edu	37	22	16419352	16419352	+	RNA	DEL	T	T	-			TCGA-XF-A9SV-01A-21D-A42E-08	TCGA-XF-A9SV-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44b82f9b-d207-45e9-a872-a59812fa0b38	8af7f2bb-620e-4fb0-883b-a05bbc9ea120	g.chr22:16419352delT	ENST00000444162.1	+	0	279																											GAATCGACGATTTTTTTTTTG	0.398													2	4	---	---	---	---