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
ZNF479	90827	broad.mit.edu	37	7	57187575	57187575	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr7:57187575G>T	ENST00000331162.4	-	5	1817	c.1547C>A	c.(1546-1548)aCt>aAt	p.T516N		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	516					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TTTCTCTCCAGTGTGAATTAT	0.343000													10	20					3.86212e-05	4.18891e-05	1	1	0
TCTE1	202500	broad.mit.edu	37	6	44248037	44248037	+	Nonsense_Mutation	SNP	C	C	A	rs137945372		TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr6:44248037C>A	ENST00000371505.4	-	5	1509	c.1387G>T	c.(1387-1389)Gag>Tag	p.E463*	TMEM151B_ENST00000438774.2_Intron|TCTE1_ENST00000371503.3_Nonsense_Mutation_p.E160*|TCTE1_ENST00000371504.1_Nonsense_Mutation_p.E160*	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	463										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ATGAGGTACTCGCTTTCCTGG	0.587000													4	148					1	1	1	1	0
KCNT2	343450	broad.mit.edu	37	1	196227494	196227494	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr1:196227494C>T	ENST00000367433.5	-	25	3070	c.2969G>A	c.(2968-2970)aGc>aAc	p.S990N	KCNT2_ENST00000294725.8_Missense_Mutation_p.S1014N|KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000367431.4_Missense_Mutation_p.S948N|KCNT2_ENST00000498426.1_5'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	1014						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						CCACTGCATGCTTTTTCTCCG	0.517000													14	69					0	0	1	0	0
MYH11	4629	broad.mit.edu	37	16	15820850	15820850	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr16:15820850C>A	ENST00000338282.6	-	28	3819	c.3713G>T	c.(3712-3714)gGg>gTg	p.G1238V	MYH11_ENST00000300036.5_Missense_Mutation_p.G1238V|MYH11_ENST00000576790.1_Missense_Mutation_p.G1238V|MYH11_ENST00000452625.2_Missense_Mutation_p.G1245V|MYH11_ENST00000396324.3_Missense_Mutation_p.G1245V|AF001548.5_ENST00000574212.1_RNA	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1238					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CCGCAGCTCCCCGGCCAGGTC	0.607000			T	CBFB	AML								104	231					9.21594e-48	1.29945e-47	1	1	0
TTC9B	148014	broad.mit.edu	37	19	40722103	40722103	+	Silent	SNP	C	C	T			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr19:40722103C>T	ENST00000311308.6	-	3	704	c.687G>A	c.(685-687)ggG>ggA	p.G229G		NM_152479.5	NP_689692.2	Q8N6N2	TTC9B_HUMAN	tetratricopeptide repeat domain 9B	229							binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)	5						GGGACCCAGCCCCACTGTCTT	0.597000													59	95					0	0	1	0	0
TM6SF2	53345	broad.mit.edu	37	19	19377366	19377366	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr19:19377366G>A	ENST00000389363.4	-	9	929	c.857C>T	c.(856-858)gCt>gTt	p.A286V	AC138430.4_ENST00000586064.2_RNA	NM_001001524.2	NP_001001524.2	Q9BZW4	TM6S2_HUMAN	transmembrane 6 superfamily member 2	286						integral to membrane				breast(2)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14			Epithelial(12;0.0151)			GAAGGTGAGAGCATAGGCAGC	0.607000													7	103					0	0	1	0	0
MARCO	8685	broad.mit.edu	37	2	119739028	119739028	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr2:119739028G>A	ENST00000541757.1	+	10	956	c.576G>A	c.(574-576)atG>atA	p.M192I	MARCO_ENST00000327097.4_Missense_Mutation_p.M270I			Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	270	Collagen-like.				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity	p.M270I(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						CAGGGGTCATGGGGCCTCCTG	0.557000													16	23					0	0	1	0	0
GPR63	81491	broad.mit.edu	37	6	97246786	97246786	+	Silent	SNP	C	C	T			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr6:97246786C>T	ENST00000229955.3	-	2	1167	c.822G>A	c.(820-822)ttG>ttA	p.L274L	GPR63_ENST00000417980.1_Silent_p.L274L	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	274						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		TATGGATCCTCAAGGCATTGT	0.458000													34	15					0	0	1	0	0
HERC2P3	283755	broad.mit.edu	37	15	20588515	20588515	+	RNA	SNP	A	A	C			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr15:20588515A>C	ENST00000428453.1	-	0	4235																				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						AAACCTGAGCAACAGCTCAAG	0.493000													5	42					0	0	1	0	0
RHOXF2B	727940	broad.mit.edu	37	X	119210984	119210984	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chrX:119210984G>T	ENST00000371402.2	-	2	538	c.349C>A	c.(349-351)Cag>Aag	p.Q117K	RP4-755D9.1_ENST00000553843.1_RNA	NM_001099685.1	NP_001093155.1	P0C7M4	RHF2B_HUMAN	Rhox homeobox family, member 2B	117						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(2)|skin(3)|upper_aerodigestive_tract(1)	7						CGCGAATACTGCTGCCCAGGT	0.662000													14	2					2.32416e-17	3.06267e-17	1	1	0
PCDHB12	56124	broad.mit.edu	37	5	140588669	140588669	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr5:140588669G>T	ENST00000239450.2	+	1	379	c.190G>T	c.(190-192)Gct>Tct	p.A64S	PCDHB12_ENST00000541609.1_Intron	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		64	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCGCGGGGGGCTCGGGTGGT	0.517000													50	54					5.22555e-25	7.29508e-25	1	1	0
TMEM126B	55863	broad.mit.edu	37	11	85345296	85345296	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr11:85345296C>T	ENST00000534341.1	+	3	376	c.370C>T	c.(370-372)Ctt>Ttt	p.L124F	TMEM126B_ENST00000358867.6_Missense_Mutation_p.L124F|TMEM126B_ENST00000393375.1_Missense_Mutation_p.L94F			Q8IUX1	T126B_HUMAN	transmembrane protein 126B	124						integral to membrane				kidney(1)|large_intestine(2)|lung(3)|prostate(1)	7		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				TACTGACAAGCTTTTTGTAAT	0.328000													12	26					0	0	1	0	0
C14orf37	145407	broad.mit.edu	37	14	58563492	58563492	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr14:58563492G>C	ENST00000267485.7	-	5	2233	c.2039C>G	c.(2038-2040)aCc>aGc	p.T680S		NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	680						integral to membrane	binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						CACCTGGTAGGTAGCTCCCTC	0.527000													20	30					0	0	1	0	0
KCNQ5	56479	broad.mit.edu	37	6	73904239	73904239	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr6:73904239G>T	ENST00000342056.2	+	15	2356	c.1958G>T	c.(1957-1959)gGc>gTc	p.G653V	KCNQ5_ENST00000414165.2_Missense_Mutation_p.G524V|KCNQ5_ENST00000402622.2_Missense_Mutation_p.G644V|KCNQ5_ENST00000403813.2_Missense_Mutation_p.G625V|KCNQ5_ENST00000370398.1_Missense_Mutation_p.G634V|KCNQ5_ENST00000355635.3_Missense_Mutation_p.G635V|KCNQ5_ENST00000355194.4_Missense_Mutation_p.G634V	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	634					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		CTTCGGAAAGGCTCTGCCTCA	0.453000													19	51					3.99206e-14	5.02571e-14	1	1	0
SLC5A1	6523	broad.mit.edu	37	22	32498215	32498215	+	Silent	SNP	G	G	A			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr22:32498215G>A	ENST00000266088.4	+	13	1906	c.1656G>A	c.(1654-1656)ccG>ccA	p.P552P	SLC5A1_ENST00000543737.1_Silent_p.P425P	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	552					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding	p.P552P(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						AACCCATTCCGGATGTGCATG	0.403000													16	96					0	0	1	0	0
SNRNP200	23020	broad.mit.edu	37	2	96952528	96952528	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr2:96952528C>T	ENST00000323853.5	-	28	3804	c.3727G>A	c.(3727-3729)Gcc>Acc	p.A1243T	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1243	SEC63 1.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						GCGTACTTGGCCTTGAGGAGA	0.542000													31	66					0	0	1	0	0
BNC1	646	broad.mit.edu	37	15	83932044	83932044	+	Silent	SNP	G	G	A			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr15:83932044G>A	ENST00000345382.2	-	4	2044	c.1959C>T	c.(1957-1959)ggC>ggT	p.G653G	BNC1_ENST00000569704.1_Silent_p.G646G|RP11-382A20.4_ENST00000565495.1_RNA	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	653					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						AGTGTTCATGGCCACCATCCT	0.552000													6	49					0	0	1	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18504846	18504846	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr9:18504846C>A	ENST00000380548.4	+	2	422	c.83C>A	c.(82-84)tCc>tAc	p.S28Y	ADAMTSL1_ENST00000380570.4_Missense_Mutation_p.S28Y|ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.S28Y|ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.S28Y|ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.S28Y|ADAMTSL1_ENST00000431052.2_Missense_Mutation_p.S28Y	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	28						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		ACCGCACGCTCCGAGGAGGAC	0.582000													52	22					3.56336e-21	4.878e-21	1	1	0
CSMD1	64478	broad.mit.edu	37	8	2949067	2949067	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr8:2949067C>G	ENST00000520002.1	-	49	7814	c.7259G>C	c.(7258-7260)aGt>aCt	p.S2420T	CSMD1_ENST00000602557.1_Missense_Mutation_p.S2420T|CSMD1_ENST00000542608.1_Missense_Mutation_p.S2419T|CSMD1_ENST00000400186.3_Missense_Mutation_p.S2420T|CSMD1_ENST00000537824.1_Missense_Mutation_p.S2419T|CSMD1_ENST00000602723.1_Missense_Mutation_p.S2420T			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2420	CUB 14.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TCCTTTCTTACTGGTGGCATG	0.348000													18	39					0	0	1	0	0
ATP10B	23120	broad.mit.edu	37	5	159996679	159996679	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr5:159996679G>T	ENST00000327245.5	-	25	4608	c.3762C>A	c.(3760-3762)caC>caA	p.H1254Q		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1254					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCACGACTCCGTGGAAAATGG	0.478000													3	51					6.4e-05	6.83636e-05	1	1	0
CNBD1	168975	broad.mit.edu	37	8	88249280	88249280	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr8:88249280G>T	ENST00000518476.1	+	6	762	c.711G>T	c.(709-711)tgG>tgT	p.W237C	CNBD1_ENST00000522427.1_3'UTR	NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	237										breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						GCTTCATTTGGAGTGAAGAAT	0.393000													18	37					1.56452e-12	1.88545e-12	1	1	0
SENP7	57337	broad.mit.edu	37	3	101060531	101060531	+	Silent	SNP	A	A	G			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr3:101060531A>G	ENST00000394095.2	-	15	2252	c.2199T>C	c.(2197-2199)gaT>gaC	p.D733D	SENP7_ENST00000394091.1_Silent_p.D569D|SENP7_ENST00000348610.3_Silent_p.D700D|SENP7_ENST00000358203.3_Silent_p.D569D|SENP7_ENST00000314261.7_Silent_p.D667D|SENP7_ENST00000394094.2_Silent_p.D668D	NM_020654.3	NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	733					proteolysis	nucleus	cysteine-type peptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GCCATTCTTCATCTGGATTAG	0.433000													18	37					0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	32466631	32466631	+	Missense_Mutation	SNP	A	A	G			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chrX:32466631A>G	ENST00000357033.4	-	27	3934	c.3728T>C	c.(3727-3729)cTa>cCa	p.L1243P	DMD_ENST00000378677.2_Missense_Mutation_p.L1239P	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1243					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GTTGGTGGTTAGAGTTTCAAG	0.418000													13	25					0	0	1	0	0
EGFLAM	133584	broad.mit.edu	37	5	38370435	38370435	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr5:38370435C>T	ENST00000322350.5	+	6	929	c.583C>T	c.(583-585)Cgg>Tgg	p.R195W	EGFLAM_ENST00000354891.3_Missense_Mutation_p.R195W	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	195	Fibronectin type-III 2.					cell junction|proteinaceous extracellular matrix|synapse		p.R195W(2)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					AATCCATGAGCGGATCCAGAT	0.498000													5	77					0	0	1	0	0
NRL	4901	broad.mit.edu	37	14	24551823	24551823	+	Nonsense_Mutation	SNP	G	G	A			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr14:24551823G>A	ENST00000561028.1	-	2	554	c.235C>T	c.(235-237)Cag>Tag	p.Q79*	NRL_ENST00000397002.2_Nonsense_Mutation_p.Q79*|NRL_ENST00000396997.1_Nonsense_Mutation_p.Q79*			P54845	NRL_HUMAN	neural retina leucine zipper	79					response to stimulus|transcription from RNA polymerase II promoter|visual perception	nucleus	leucine zipper domain binding|sequence-specific DNA binding			lung(2)	2				GBM - Glioblastoma multiforme(265;0.0181)		AGCTGCTGCTGCAGGGTAGCC	0.667000													4	21					0	0	1	0	0
PCDHB14	56122	broad.mit.edu	37	5	140603954	140603954	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr5:140603954G>A	ENST00000239449.4	+	1	877	c.877G>A	c.(877-879)Gaa>Aaa	p.E293K	PCDHB14_ENST00000515856.2_Missense_Mutation_p.E140K	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		293	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TAAAACATTTGAAATTAATCC	0.378000													16	13					0	0	1	0	0
TMEM126B	55863	broad.mit.edu	37	11	85345276	85345276	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr11:85345276C>T	ENST00000534341.1	+	3	356	c.350C>T	c.(349-351)tCt>tTt	p.S117F	TMEM126B_ENST00000358867.6_Missense_Mutation_p.S117F|TMEM126B_ENST00000393375.1_Missense_Mutation_p.S87F			Q8IUX1	T126B_HUMAN	transmembrane protein 126B	117						integral to membrane				kidney(1)|large_intestine(2)|lung(3)|prostate(1)	7		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				CCATTTTTGTCTACTGTTGTT	0.333000													11	35					0	0	1	0	0
LINGO1	84894	broad.mit.edu	37	15	77906450	77906450	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr15:77906450C>A	ENST00000355300.6	-	2	1973	c.1799G>T	c.(1798-1800)cGa>cTa	p.R600L	LINGO1_ENST00000561030.1_Missense_Mutation_p.R594L	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	600					negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						GTCCGACTTTCGGGGCACATA	0.642000													15	7					6.31663e-08	7.12515e-08	1	1	0
CYP11A1	1583	broad.mit.edu	37	15	74636145	74636145	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr15:74636145C>A	ENST00000358632.4	-	4	1035	c.340G>T	c.(340-342)Gtg>Ttg	p.V114L	CYP11A1_ENST00000541301.1_3'UTR|CYP11A1_ENST00000268053.6_Missense_Mutation_p.V272L|CYP11A1_ENST00000419019.2_Missense_Mutation_p.V114L	NM_001099773.1	NP_001093243.1	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1	272					C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	CTGAAAATCACGTCCCATGCA	0.592000													35	137					8.16277e-20	1.0858e-19	1	1	0
GABRA4	2557	broad.mit.edu	37	4	46967032	46967032	+	Silent	SNP	G	G	A	rs112484538		TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr4:46967032G>A	ENST00000264318.3	-	8	2071	c.1089C>T	c.(1087-1089)ccC>ccT	p.P363P		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	363					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CTGGAGCAGCGGGAACTTCCT	0.428000													12	48					0	0	1	0	0
CROCCP2	84809	broad.mit.edu	37	1	16957414	16957414	+	RNA	SNP	C	C	T	rs2296161	by1000genomes	TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr1:16957414C>T	ENST00000412962.1	-	0	264																											AAGTGCAGGGCGGAGAGAATC	0.706000													3	15					0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29667604	29667604	+	Missense_Mutation	SNP	A	A	C			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr17:29667604A>C	ENST00000358273.4	+	47	7386	c.7003A>C	c.(7003-7005)Acc>Ccc	p.T2335P	NF1_ENST00000356175.3_Missense_Mutation_p.T2314P|NF1_ENST00000444181.2_Missense_Mutation_p.T128P|NF1_ENST00000417592.2_Missense_Mutation_p.T48P	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2335					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TTCAGCAGGTACCGCACTTCT	0.438000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			19	8					0	0	1	0	0
SLC26A2	1836	broad.mit.edu	37	5	149361032	149361032	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr5:149361032G>C	ENST00000286298.4	+	3	2144	c.1876G>C	c.(1876-1878)Gtg>Ctg	p.V626L		NM_000112.3	NP_000103.2	P50443	S26A2_HUMAN	solute carrier family 26 (anion exchanger), member 2	626	STAS.					integral to plasma membrane|membrane fraction	secondary active sulfate transmembrane transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			AGAAAAAGTAGTGACTCTTGG	0.383000													27	42					0	0	1	0	0
EIF2AK1	27102	broad.mit.edu	37	7	6078292	6078292	+	Missense_Mutation	SNP	T	T	C	rs139313112		TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr7:6078292T>C	ENST00000199389.6	-	10	1276	c.1130A>G	c.(1129-1131)cAc>cGc	p.H377R	EIF2AK1_ENST00000536084.1_Missense_Mutation_p.H253R	NM_001134335.1|NM_014413.3	NP_001127807.1|NP_055228.2	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 1	377	Protein kinase.				negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress	cytoplasm	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	27		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		CAGCATCAGGTGGTACTGTGC	0.512000													37	67					0	0	1	0	0
CD22	933	broad.mit.edu	37	19	35823644	35823644	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr19:35823644T>C	ENST00000085219.5	+	3	295	c.229T>C	c.(229-231)Tat>Cat	p.Y77H	CD22_ENST00000536635.2_Missense_Mutation_p.Y77H|CD22_ENST00000341773.6_Missense_Mutation_p.Y77H|CD22_ENST00000595419.1_3'UTR|CD22_ENST00000419549.2_5'UTR|CD22_ENST00000270311.6_5'UTR|CD22_ENST00000594250.1_Missense_Mutation_p.Y77H|CD22_ENST00000544992.2_Missense_Mutation_p.Y77H	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	77	Ig-like V-type.				cell adhesion		protein binding|sugar binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	GACAAGACTCTATGAAAGCAC	0.478000													70	43					0	0	1	0	0
ANO2	57101	broad.mit.edu	37	12	5841686	5841686	+	Splice_Site	SNP	C	C	T			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr12:5841686C>T	ENST00000327087.8	-	15	1616	c.1545_splice	c.e15+1	p.E515_splice	ANO2_ENST00000538154.1_5'UTR|ANO2_ENST00000356134.5_Splice_Site_p.E516_splice|ANO2_ENST00000546188.1_Splice_Site_p.E516_splice			Q9NQ90	ANO2_HUMAN	anoctamin 2	520						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						AGCTTCATACCTCATCGCCAC	0.478000													8	27					0	0	1	0	0
TEKT4P2	100132288	broad.mit.edu	37	21	9907222	9907222	+	RNA	SNP	T	T	C	rs4023131		TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr21:9907222T>C	ENST00000416067.1	-	0	1570					NR_037872.1|NR_038327.1																						ATTTGGGGGATTGGGGGGAAG	0.587000													8	24					0	0	1	0	0
LOC101927079	101927079	broad.mit.edu	37	15	22332432	22332432	+	RNA	SNP	C	C	T			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr15:22332432C>T	ENST00000558896.1	+	0	239																											AAGATTCTAACGTGACAGAAC	0.343000													4	154					0	0	1	0	0
YME1L1	10730	broad.mit.edu	37	10	27436425	27436425	+	Missense_Mutation	SNP	A	A	G			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr10:27436425A>G	ENST00000477432.1	-	3	1396	c.341T>C	c.(340-342)gTa>gCa	p.V114A	YME1L1_ENST00000376016.3_Intron|YME1L1_ENST00000326799.3_Splice_Site|YME1L1_ENST00000375972.3_Intron			Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	504					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						CCCGCAGTGTACAGGGATTGA	0.463000													5	25					0	0	1	0	0
PIF1	80119	broad.mit.edu	37	15	65114717	65114717	+	Silent	SNP	G	G	T			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr15:65114717G>T	ENST00000268043.4	-	3	745	c.651C>A	c.(649-651)gcC>gcA	p.A217A	PIF1_ENST00000333425.6_Silent_p.A217A|PIF1_ENST00000559239.1_Silent_p.A217A			Q9H611	PIF1_HUMAN	PIF1 5'-to-3' DNA helicase	217	Hydrolyzes ATP in the presence of both magnesium and single-stranded DNA; weak activity in the presence of RNA or double-stranded DNA; No unwinding activity.				negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication	nuclear chromosome, telomeric region	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding			kidney(1)|lung(1)	2						CTTTCAGGACGGCCCTCAGCA	0.627000													13	39					1.05317e-09	1.19756e-09	1	1	0
SNX31	169166	broad.mit.edu	37	8	101601110	101601110	+	Missense_Mutation	SNP	A	A	G			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr8:101601110A>G	ENST00000311812.2	-	11	1226	c.1076T>C	c.(1075-1077)gTt>gCt	p.V359A	SNX31_ENST00000519521.1_5'UTR|SNX31_ENST00000428383.2_Missense_Mutation_p.V260A	NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	sorting nexin 31	359					cell communication|protein transport		phosphatidylinositol binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			GGTGTAAATAACAAACCACTG	0.488000													14	78					0	0	1	0	0
CHRM2	1129	broad.mit.edu	37	7	136700178	136700178	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr7:136700178G>C	ENST00000445907.2	+	3	1094	c.566G>C	c.(565-567)gGt>gCt	p.G189A	CHRM2_ENST00000320658.5_Missense_Mutation_p.G189A|CHRM2_ENST00000397608.3_Missense_Mutation_p.G189A|CHRM2_ENST00000402486.3_Missense_Mutation_p.G189A|CHRM2_ENST00000453373.1_Missense_Mutation_p.G189A|AC009264.1_ENST00000598184.1_RNA|AC009264.1_ENST00000425981.2_RNA|AC009264.1_ENST00000597642.1_RNA|AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000592183.1_RNA|AC009264.1_ENST00000586239.1_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.G189A|AC009264.1_ENST00000439694.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	189					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	GTCACCTTTGGTACGGCTATT	0.478000													7	94					0	0	1	0	0
KAT2B	8850	broad.mit.edu	37	3	20136892	20136892	+	Silent	SNP	C	C	T			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr3:20136892C>T	ENST00000263754.4	+	3	1023	c.568C>T	c.(568-570)Cta>Tta	p.L190L	KAT2B_ENST00000426228.1_3'UTR	NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	190					cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter	Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex	cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						TTATTTCTATCTATTTAAGGT	0.368000													6	15					0	0	1	0	0
TRPV4	59341	broad.mit.edu	37	12	110236701	110236701	+	Silent	SNP	C	C	T			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr12:110236701C>T	ENST00000418703.2	-	5	964	c.870G>A	c.(868-870)tcG>tcA	p.S290S	TRPV4_ENST00000541794.1_Silent_p.S243S|TRPV4_ENST00000536838.1_Silent_p.S256S|TRPV4_ENST00000392719.2_Silent_p.S243S|TRPV4_ENST00000544971.1_Silent_p.S243S|TRPV4_ENST00000261740.2_Silent_p.S290S|TRPV4_ENST00000537083.1_Silent_p.S290S|TRPV4_ENST00000346520.2_Silent_p.S290S	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	290					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						AGGCAGCCAGCGACAGGGGCA	0.677000													26	45					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21098273	21098273	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr16:21098273C>T	ENST00000261383.3	-	19	2773	c.2774G>A	c.(2773-2775)cGc>cAc	p.R925H	DNAH3_ENST00000415178.1_Missense_Mutation_p.R925H	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	925	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CTCTGCTAAGCGCCTGGGTGC	0.463000													13	194					0	0	1	0	0
EIF3D	8664	broad.mit.edu	37	22	36921726	36921726	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr22:36921726C>T	ENST00000216190.8	-	3	524	c.154G>A	c.(154-156)Gat>Aat	p.D52N	EIF3D_ENST00000405442.1_Missense_Mutation_p.D52N|EIF3D_ENST00000541106.1_Missense_Mutation_p.D52N	NM_003753.3	NP_003744.1	O15371	EIF3D_HUMAN	eukaryotic translation initiation factor 3, subunit D	52						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			cervix(1)|endometrium(2)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	15						TACCTCTTATCTTGGTATGTG	0.438000													46	31					0	0	1	0	0
RNF130	55819	broad.mit.edu	37	5	179393827	179393827	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr5:179393827C>T	ENST00000522208.2	-	7	1147	c.1129G>A	c.(1129-1131)Gaa>Aaa	p.E377K	RNF130_ENST00000261947.4_Missense_Mutation_p.E377K|RNF130_ENST00000521389.1_Missense_Mutation_p.E377K			Q86XS8	GOLI_HUMAN	ring finger protein 130	377					apoptosis	cytoplasm|integral to membrane|nucleus	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	17	all_cancers(89;5.49e-05)|all_epithelial(37;1.94e-05)|Renal(175;0.000159)|Lung NSC(126;0.00118)|all_lung(126;0.00212)	all_cancers(40;0.0294)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATGTTGATTTCTCCTGTTCTC	0.587000													6	29					0	0	1	0	0
ARSI	340075	broad.mit.edu	37	5	149677248	149677248	+	Silent	SNP	G	G	A	rs73268774	byFrequency	TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr5:149677248G>A	ENST00000328668.7	-	2	1818	c.1239C>T	c.(1237-1239)acC>acT	p.T413T		NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I	413						endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCTGCACGGCGGTGTTCCAGA	0.647000													6	54					0	0	1	0	0
LUZP2	338645	broad.mit.edu	37	11	25004797	25004797	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr11:25004797G>T	ENST00000533227.1	+	9	752	c.465G>T	c.(463-465)agG>agT	p.R155S	LUZP2_ENST00000336930.6_Missense_Mutation_p.R241S	NM_001009909.3|NM_001252008.1	NP_001009909.2|NP_001238937.1	Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	241						extracellular region				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						TCCCACCCAGGAATATTGCCT	0.443000													61	94					6.12789e-21	8.308e-21	1	1	0
CEP78	84131	broad.mit.edu	37	9	80869844	80869844	+	Silent	SNP	G	G	A			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr9:80869844G>A	ENST00000424347.2	+	11	1633	c.1344G>A	c.(1342-1344)gtG>gtA	p.V448V	CEP78_ENST00000487108.2_3'UTR|CEP78_ENST00000376598.2_Silent_p.V448V|CEP78_ENST00000277082.5_Silent_p.V448V|CEP78_ENST00000415759.2_Silent_p.V449V|CEP78_ENST00000376597.4_Silent_p.V449V			Q5JTW2	CEP78_HUMAN	centrosomal protein 78kDa	448					G2/M transition of mitotic cell cycle	centrosome|cytosol				breast(1)|cervix(1)|endometrium(5)|large_intestine(7)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	21						TTCATGAAGTGCCTGAGAAAA	0.373000													14	15					0	0	1	0	0
OR4K17	390436	broad.mit.edu	37	14	20586392	20586392	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr14:20586392C>A	ENST00000315543.4	+	1	827	c.827C>A	c.(826-828)aCa>aAa	p.T276K		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	248					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		GCTCACATCACAGTGGTGATT	0.428000													16	46					1.45105e-14	1.84323e-14	1	1	0
DBX1	120237	broad.mit.edu	37	11	20177910	20177910	+	Silent	SNP	G	G	A			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr11:20177910G>A	ENST00000524983.2	-	4	1170	c.882C>T	c.(880-882)tcC>tcT	p.S294S	DBX1_ENST00000227256.3_Silent_p.S333S			A6NMT0	DBX1_HUMAN	developing brain homeobox 1	294					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)	21						GGGGGTCGGAGGACGCGTGGT	0.731000													9	15					0	0	1	0	0
MASP2	10747	broad.mit.edu	37	1	11103420	11103420	+	Silent	SNP	G	G	C			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr1:11103420G>C	ENST00000400897.3	-	5	732	c.717C>G	c.(715-717)acC>acG	p.T239T		NM_006610.3	NP_006601.2	O00187	MASP2_HUMAN	mannan-binding lectin serine peptidase 2	239	CUB 2.				complement activation, classical pathway|complement activation, lectin pathway|proteolysis	extracellular region	calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity			biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		AGGGACACAGGGTTTCAGGGT	0.567000													7	8					0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57767569	57767569	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr20:57767569G>A	ENST00000371030.2	+	1	1495	c.1495G>A	c.(1495-1497)Gtc>Atc	p.V499I		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	499						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CGTGGAATGTGTCCCCGTCAC	0.701000													12	27					0	0	1	0	0
SENP7	57337	broad.mit.edu	37	3	101049218	101049218	+	Missense_Mutation	SNP	C	C	A	rs61761868	byFrequency	TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr3:101049218C>A	ENST00000394095.2	-	20	2764	c.2711G>T	c.(2710-2712)cGt>cTt	p.R904L	SENP7_ENST00000394091.1_Missense_Mutation_p.R740L|SENP7_ENST00000348610.3_Missense_Mutation_p.R871L|SENP7_ENST00000358203.3_Missense_Mutation_p.R740L|SENP7_ENST00000314261.7_Missense_Mutation_p.R838L|SENP7_ENST00000394094.2_Missense_Mutation_p.R839L|SENP7_ENST00000394085.3_Missense_Mutation_p.R92L	NM_020654.3	NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	904	Protease.				proteolysis	nucleus	cysteine-type peptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CGAAGTAGTACGTAGATCATT	0.303000													13	26					0.00185496	0.00192315	1	1	0
FOXE1	2304	broad.mit.edu	37	9	100617228	100617228	+	Silent	SNP	G	G	A			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr9:100617228G>A	ENST00000375123.3	+	1	1693	c.1032G>A	c.(1030-1032)ggG>ggA	p.G344G		NM_004473.3	NP_004464.2	O00358	FOXE1_HUMAN	forkhead box E1 (thyroid transcription factor 2)	344					cell migration|embryonic organ morphogenesis|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|peripheral nervous system development|pharynx development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thymus development|thyroid gland development|thyroid hormone generation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			central_nervous_system(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	5		Acute lymphoblastic leukemia(62;0.158)				ACCCTGGCGGGCAGCTCGGAG	0.692000													3	21					0	0	1	0	0
OR4M1	441670	broad.mit.edu	37	14	20248683	20248683	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr14:20248683C>G	ENST00000315957.4	+	1	283	c.202C>G	c.(202-204)Ctc>Gtc	p.L68V		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TAATCTGGCCCTCCTTGATAT	0.423000													98	750					0	0	1	0	0
ABTB1	80325	broad.mit.edu	37	3	127395254	127395254	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr3:127395254G>A	ENST00000468137.1	+	4	650	c.34G>A	c.(34-36)Gtg>Atg	p.V12M	ABTB1_ENST00000453791.2_Missense_Mutation_p.V12M|ABTB1_ENST00000393363.3_Missense_Mutation_p.V12M|ABTB1_ENST00000232744.8_Missense_Mutation_p.V154M			Q969K4	ABTB1_HUMAN	ankyrin repeat and BTB (POZ) domain containing 1	154						cytoplasm|nucleolus|plasma membrane	translation elongation factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10						CAAGAGTGTCGTGGTTCTCAG	0.582000													19	26					0	0	1	0	0
ZNF333	84449	broad.mit.edu	37	19	14810083	14810083	+	Missense_Mutation	SNP	A	A	G			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr19:14810083A>G	ENST00000292530.6	+	5	387	c.296A>G	c.(295-297)gAc>gGc	p.D99G	ZNF333_ENST00000536363.1_5'UTR|ZNF333_ENST00000540689.2_Missense_Mutation_p.D99G|ZNF333_ENST00000601629.1_3'UTR|ZNF333_ENST00000601134.1_Intron	NM_032433.2	NP_115809.1	Q96JL9	ZN333_HUMAN	zinc finger protein 333	99					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1)	21						TCCTCCAGGGACATGCAAATG	0.493000													6	51					0	0	1	0	0
ZNF582	147948	broad.mit.edu	37	19	56896146	56896146	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr19:56896146G>T	ENST00000301310.4	-	5	798	c.640C>A	c.(640-642)Cta>Ata	p.L214I	ZNF582_ENST00000586929.1_Missense_Mutation_p.L214I	NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN	zinc finger protein 582	214					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		TGTTGAATTAGTCGTGAGCCA	0.343000													32	23					2.09667e-21	2.89833e-21	1	1	0
PTCHD4	442213	broad.mit.edu	37	6	47847177	47847177	+	Missense_Mutation	SNP	A	A	T			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr6:47847177A>T	ENST00000339488.4	-	3	1436	c.1403T>A	c.(1402-1404)gTc>gAc	p.V468D		NM_001013732.3	NP_001013754.3	Q6ZW05	CF138_HUMAN	patched domain containing 4	468						integral to membrane	hedgehog receptor activity										ATAGAGGATGACAACAAATGG	0.438000													19	31					0	0	1	0	0
CSN1S1	1446	broad.mit.edu	37	4	70810659	70810659	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr4:70810659C>T	ENST00000246891.4	+	15	543	c.494C>T	c.(493-495)tCc>tTc	p.S165F	CSN1S1_ENST00000507772.1_Missense_Mutation_p.S157F|CSN1S1_ENST00000507763.1_Missense_Mutation_p.S156F|CSN1S1_ENST00000444405.3_Missense_Mutation_p.S156F|CSN1S1_ENST00000505782.1_Missense_Mutation_p.S149F	NM_001890.1	NP_001881.1	P47710	CASA1_HUMAN	casein alpha s1	165						extracellular region	protein binding|transporter activity			lung(5)|prostate(1)|upper_aerodigestive_tract(1)	7						CCACCGTTTTCCGACATCTCC	0.418000													83	44					0	0	1	0	0
PCDHB12	56124	broad.mit.edu	37	5	140590252	140590252	+	Silent	SNP	G	G	T			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr5:140590252G>T	ENST00000239450.2	+	1	1962	c.1773G>T	c.(1771-1773)gcG>gcT	p.A591A	PCDHB12_ENST00000541609.1_Silent_p.A254A	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		591	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGTGGTGGCGGTGGACGGTG	0.706000													30	205					9.14704e-12	1.0659e-11	1	1	0
C1GALT1	56913	broad.mit.edu	37	7	7283267	7283267	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr7:7283267G>T	ENST00000436587.2	+	4	1224	c.1001G>T	c.(1000-1002)aGa>aTa	p.R334I	C1GALT1_ENST00000223122.2_Missense_Mutation_p.R334I	NM_020156.3	NP_064541.1	Q9NS00	C1GLT_HUMAN	core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1	334					angiogenesis|cell differentiation|kidney development	integral to membrane	glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity|metal ion binding			breast(1)|kidney(1)|lung(3)|prostate(1)|urinary_tract(1)	7				UCEC - Uterine corpus endometrioid carcinoma (126;0.177)		TATTTATACAGATATCAACCT	0.328000													34	79					2.05212e-20	2.7557e-20	1	1	0
SMOX	54498	broad.mit.edu	37	20	4163119	4163119	+	Silent	SNP	C	C	T			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr20:4163119C>T	ENST00000305958.4	+	5	1218	c.993C>T	c.(991-993)acC>acT	p.T331T	SMOX_ENST00000346595.2_Intron|SMOX_ENST00000339123.6_Intron|SMOX_ENST00000379460.2_Silent_p.T331T|SMOX_ENST00000278795.3_Intron	NM_175839.1	NP_787033.1	Q9NWM0	SMOX_HUMAN	spermine oxidase	331					polyamine biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	polyamine oxidase activity			breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1)	26					Spermine(DB00127)	TGATTGTGACCGTGTCGCTAG	0.632000													5	105					0	0	1	0	0
TMEM8A	58986	broad.mit.edu	37	16	424296	424296	+	Silent	SNP	G	G	A			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr16:424296G>A	ENST00000431232.2	-	10	1840	c.1680C>T	c.(1678-1680)gcC>gcT	p.A560A	TMEM8A_ENST00000250930.3_Silent_p.A367A	NM_021259.2	NP_067082.2	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8A	560					cell adhesion	integral to plasma membrane				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						CGGCGATGGGGGCCAGGAACA	0.652000											OREG0003702	type=REGULATORY REGION|Gene=TMEM8|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	3	48					0	0	1	0	0
ZNF131	7690	broad.mit.edu	37	5	43174701	43174701	+	Silent	SNP	A	A	T			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr5:43174701A>T	ENST00000509634.1	+	7	1692	c.1236A>T	c.(1234-1236)tcA>tcT	p.S412S	ZNF131_ENST00000505606.2_Silent_p.S412S|ZNF131_ENST00000509156.1_Silent_p.S446S|ZNF131_ENST00000509931.1_Intron|ZNF131_ENST00000399534.1_Silent_p.S446S|ZNF131_ENST00000306938.4_Silent_p.S412S			P52739	ZN131_HUMAN	zinc finger protein 131	446						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	17						ACAATATTTCAGAGCGTCTAG	0.388000													42	176					0	0	1	0	0
YAP1	10413	broad.mit.edu	37	11	102100563	102100563	+	Silent	SNP	G	G	A			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr11:102100563G>A	ENST00000282441.5	+	9	1795	c.1407G>A	c.(1405-1407)gaG>gaA	p.E469E	YAP1_ENST00000531439.1_Silent_p.E453E|YAP1_ENST00000345877.2_Silent_p.E419E|YAP1_ENST00000524575.1_Silent_p.E291E|YAP1_ENST00000537274.1_Silent_p.E457E|YAP1_ENST00000526343.1_Silent_p.E415E|YAP1_ENST00000528834.1_3'UTR	NM_001130145.2	NP_001123617.1	P46937	YAP1_HUMAN	Yes-associated protein 1	469	Transactivation domain.				cell proliferation|cellular response to gamma radiation|contact inhibition|hippo signaling cascade|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4	all_cancers(8;0.000575)|all_epithelial(12;0.00564)	Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.00936)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0189)		AAGGAGAGGAGCTGATGCCAA	0.463000													3	41					0	0	1	0	0
STRC	161497	broad.mit.edu	37	15	43893141	43893141	+	Silent	SNP	C	C	A			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr15:43893141C>A	ENST00000450892.2	-	25	4850	c.4773G>T	c.(4771-4773)ctG>ctT	p.L1591L	STRC_ENST00000541030.1_Silent_p.L818L	NM_153700.2	NP_714544.1	Q7RTU9	STRC_HUMAN	stereocilin	1591					sensory perception of sound	cell surface				skin(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		CCAGCGCTGTCAGATGAACGA	0.592000													14	55					3.6726e-16	4.7508e-16	1	1	0
PATL1	219988	broad.mit.edu	37	11	59417006	59417006	+	Silent	SNP	T	T	C			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr11:59417006T>C	ENST00000300146.9	-	14	1746	c.1662A>G	c.(1660-1662)ctA>ctG	p.L554L		NM_152716.2	NP_689929.2	Q86TB9	PATL1_HUMAN	protein associated with topoisomerase II homolog 1 (yeast)	554	Region C.				cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA	cytoplasmic mRNA processing body	protein binding|RNA binding			central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						TGTCATCCATTAGGGCAGGTC	0.443000													15	20					0	0	1	0	0
KRTAP4-8	728224	broad.mit.edu	37	17	39254136	39254136	+	Silent	SNP	G	G	T			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr17:39254136G>T	ENST00000333822.4	-	1	257	c.201C>A	c.(199-201)ccC>ccA	p.P67P		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	67	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].					keratin filament				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						CACAGCAGCTGGGGCGACAGC	0.662000													34	20					4.11147e-13	5.04102e-13	1	1	0
SALL3	27164	broad.mit.edu	37	18	76754643	76754643	+	Silent	SNP	C	C	T			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr18:76754643C>T	ENST00000536229.3	+	1	2962	c.2253C>T	c.(2251-2253)ggC>ggT	p.G751G	SALL3_ENST00000575389.2_Silent_p.G884G|SALL3_ENST00000537592.2_Silent_p.G884G			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	884					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CGGCCGTGGGCGACCTGGAGA	0.701000													28	32					0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13368360	13368360	+	Missense_Mutation	SNP	A	A	G			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr19:13368360A>G	ENST00000360228.5	-	28	4393	c.4394T>C	c.(4393-4395)cTc>cCc	p.L1465P	CACNA1A_ENST00000573710.2_Missense_Mutation_p.L1466P	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1466					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	CGAATGCTTGAGGACCCTGCa	0.597000													4	1					0	0	1	0	0
PSG11	5680	broad.mit.edu	37	19	43523108	43523108	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr19:43523108C>A	ENST00000401740.1	-	3	626	c.523G>T	c.(523-525)Gac>Tac	p.D175Y	PSG11_ENST00000403486.1_Missense_Mutation_p.D53Y|PSG11_ENST00000320078.7_Missense_Mutation_p.D175Y|PSG11_ENST00000595312.1_5'UTR|PSG11_ENST00000306322.7_Missense_Mutation_p.D53Y			Q9UQ72	PSG11_HUMAN	pregnancy specific beta-1-glycoprotein 11	175	Ig-like C2-type 1.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				TAGCTTGCGTCCGGAGTCTCA	0.527000													6	455					0.0215528	0.0220213	1	1	0
HEATR5A	25938	broad.mit.edu	37	14	31774300	31774300	+	Silent	SNP	A	A	G			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr14:31774300A>G	ENST00000543095.2	-	32	5234	c.5050T>C	c.(5050-5052)Ttg>Ctg	p.L1684L	HEATR5A_ENST00000439348.1_Silent_p.L1678L|HEATR5A_ENST00000439727.1_Silent_p.L1391L|HEATR5A_ENST00000389961.3_Silent_p.L1678L	NM_015473.3	NP_056288.2	Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	1678							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		GCAAAGACCAAAGACTTTCCA	0.443000													9	82					0	0	1	0	0
TSNAX-DISC1	100303453	broad.mit.edu	37	1	231672960	231672960	+	Splice_Site	SNP	A	A	G			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr1:231672960A>G	ENST00000602962.1	+	3	281	c.121_splice	c.e3-1	p.S41_splice	TSNAX_ENST00000366639.4_Splice_Site_p.S41_splice|TSNAX_ENST00000602825.1_3'UTR																							TGTTTTTAGCATTTCAGCAGG	0.368000													47	30					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39768595	39768595	+	Splice_Site	SNP	G	G	C			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr1:39768595G>C	ENST00000564288.1	+	23	3411		c.e23-1		MACF1_ENST00000476350.1_Splice_Site|MACF1_ENST00000545844.1_Splice_Site|MACF1_ENST00000372915.3_Splice_Site|MACF1_ENST00000317713.7_Splice_Site|MACF1_ENST00000567887.1_Splice_Site|MACF1_ENST00000361689.2_Splice_Site|MACF1_ENST00000539005.1_Splice_Site			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1						cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TATCTCTTCAGATTACTATTT	0.398000													22	19					0	0	1	0	0
EYA1	2138	broad.mit.edu	37	8	72184036	72184036	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr8:72184036C>T	ENST00000340726.3	-	10	1562	c.923G>A	c.(922-924)cGa>cAa	p.R308Q	EYA1_ENST00000388740.3_Missense_Mutation_p.R275Q|EYA1_ENST00000388742.4_Missense_Mutation_p.R308Q|EYA1_ENST00000388741.2_Missense_Mutation_p.R274Q|EYA1_ENST00000388743.2_Missense_Mutation_p.R307Q|EYA1_ENST00000303824.7_Missense_Mutation_p.R302Q|EYA1_ENST00000419131.1_Missense_Mutation_p.R303Q	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	eyes absent homolog 1 (Drosophila)	308					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			ATTGTTTCTTCGGCCCCGTCC	0.473000													54	157					0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65234487	65234487	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr14:65234487C>A	ENST00000389722.3	-	29	6166	c.6113G>T	c.(6112-6114)gGa>gTa	p.G2038V	SPTB_ENST00000389721.5_Missense_Mutation_p.G2038V|SPTB_ENST00000389720.3_Missense_Mutation_p.G2038V|SPTB_ENST00000556626.1_Missense_Mutation_p.G2038V|SPTB_ENST00000542895.1_Missense_Mutation_p.G2038V	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	2038					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CACTGTGTGTCCAAAGTCCCC	0.622000													28	53					2.12542e-12	2.51835e-12	1	1	0
KRTAP4-8	728224	broad.mit.edu	37	17	39254137	39254137	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr17:39254137G>T	ENST00000333822.4	-	1	256	c.200C>A	c.(199-201)cCc>cAc	p.P67H		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	67	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].					keratin filament				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						ACAGCAGCTGGGGCGACAGCA	0.657000													33	20					2.47316e-13	3.05891e-13	1	1	0
SLC4A7	9497	broad.mit.edu	37	3	27453205	27453205	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr3:27453205G>A	ENST00000295736.5	-	12	1737	c.1667C>T	c.(1666-1668)tCt>tTt	p.S556F	SLC4A7_ENST00000454389.1_Missense_Mutation_p.S565F|SLC4A7_ENST00000437179.1_Missense_Mutation_p.S437F|SLC4A7_ENST00000455077.1_Missense_Mutation_p.S437F|SLC4A7_ENST00000435667.2_Missense_Mutation_p.S441F|SLC4A7_ENST00000440156.1_Missense_Mutation_p.S552F|SLC4A7_ENST00000428386.1_Missense_Mutation_p.S432F|SLC4A7_ENST00000445684.1_Missense_Mutation_p.S552F|SLC4A7_ENST00000446700.1_Missense_Mutation_p.S548F|SLC4A7_ENST00000388777.4_Missense_Mutation_p.S106F|SLC4A7_ENST00000425128.2_Missense_Mutation_p.S548F	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	556						apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						TGTGGGGGTAGATCCATTGTG	0.418000													6	30					0	0	1	0	0
RSC1A1	6248	broad.mit.edu	37	1	15986768	15986768	+	Silent	SNP	C	C	T			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr1:15986768C>T	ENST00000345034.1	+	1	405	c.405C>T	c.(403-405)gtC>gtT	p.V135V	DDI2_ENST00000480945.1_3'UTR	NM_006511.1	NP_006502.1	Q92681	RSCA1_HUMAN	regulatory solute carrier protein, family 1, member 1	135					negative regulation of transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport	cell junction|Golgi apparatus|nucleus	ion channel inhibitor activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)	11		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GTTTATCTGTCACATCTACTA	0.438000													20	81					0	0	1	0	0
RHOXF2B	727940	broad.mit.edu	37	X	119210983	119210983	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chrX:119210983T>C	ENST00000371402.2	-	2	539	c.350A>G	c.(349-351)cAg>cGg	p.Q117R	RP4-755D9.1_ENST00000553843.1_RNA	NM_001099685.1	NP_001093155.1	P0C7M4	RHF2B_HUMAN	Rhox homeobox family, member 2B	117						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(2)|skin(3)|upper_aerodigestive_tract(1)	7						GCGCGAATACTGCTGCCCAGG	0.662000													14	2					0	0	1	0	0
TRPA1	8989	broad.mit.edu	37	8	72945999	72945999	+	Silent	SNP	G	G	T			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr8:72945999G>T	ENST00000262209.4	-	23	2955	c.2748C>A	c.(2746-2748)atC>atA	p.I916I	RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron|RP11-383H13.1_ENST00000524152.1_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	916						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	CTCGATAATTGATATCTCCTA	0.413000													10	71					7.48243e-07	8.37319e-07	1	1	0
MAP1A	4130	broad.mit.edu	37	15	43819215	43819215	+	Silent	SNP	G	G	A			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr15:43819215G>A	ENST00000382031.1	+	5	6289	c.6258G>A	c.(6256-6258)aaG>aaA	p.K2086K	MAP1A_ENST00000300231.5_Silent_p.K1848K|MAP1A_ENST00000399453.1_Silent_p.K1848K			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1848						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GGGTGCCCAAGGACAGACCCC	0.622000													3	43					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152325523	152325523	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr1:152325523G>C	ENST00000388718.5	-	3	4811	c.4739C>G	c.(4738-4740)aCt>aGt	p.T1580S	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1580							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCACTGTCAGTGGACTCACT	0.507000													5	369					0	0	1	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20496681	20496681	+	RNA	SNP	T	T	C			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr15:20496681T>C	ENST00000555186.1	+	0	734					NR_038836.1																						TGCTGCTGTGTTGTGAACTCC	0.423000													4	83					0	0	1	0	0
RIN3	79890	broad.mit.edu	37	14	93142836	93142836	+	Silent	SNP	G	G	A			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr14:93142836G>A	ENST00000216487.7	+	8	2511	c.2352G>A	c.(2350-2352)gcG>gcA	p.A784A	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	784	VPS9.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				CCTATGGGGCGGATGACTTCC	0.582000													4	107					0	0	1	0	0
GIMAP4	55303	broad.mit.edu	37	7	150269579	150269579	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr7:150269579T>C	ENST00000255945.2	+	3	596	c.421T>C	c.(421-423)Ttt>Ctt	p.F141L	GIMAP4_ENST00000494750.1_3'UTR|GIMAP4_ENST00000461940.1_Missense_Mutation_p.F155L	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	GTPase, IMAP family member 4	141							GTP binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCTGAAAATGTTTGGAGAGAG	0.483000													27	41					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152325542	152325542	+	Missense_Mutation	SNP	T	T	A			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr1:152325542T>A	ENST00000388718.5	-	3	4792	c.4720A>T	c.(4720-4722)Act>Tct	p.T1574S	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1574							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGTGGCTAGTTCTCTGTCTT	0.507000													6	350					0	0	1	0	0
RASGRF2	5924	broad.mit.edu	37	5	80408504	80408504	+	Silent	SNP	G	G	A			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr5:80408504G>A	ENST00000265080.4	+	14	1981	c.1914G>A	c.(1912-1914)caG>caA	p.Q638Q		NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	638	N-terminal Ras-GEF.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		AAGTGCCCCAGATCCGTTATG	0.473000													6	213					0	0	1	0	0
GNPDA1	10007	broad.mit.edu	37	5	141384676	141384676	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr5:141384676C>A	ENST00000508177.1	-	4	1173	c.415G>T	c.(415-417)Ggc>Tgc	p.G139C	GNPDA1_ENST00000500692.2_Missense_Mutation_p.G139C|GNPDA1_ENST00000311337.6_Missense_Mutation_p.G139C|GNPDA1_ENST00000503794.1_Missense_Mutation_p.G139C|GNPDA1_ENST00000513454.1_Missense_Mutation_p.G139C|GNPDA1_ENST00000458112.2_Missense_Mutation_p.G105C|GNPDA1_ENST00000542860.1_Intron			P46926	GNPI1_HUMAN	glucosamine-6-phosphate deaminase 1	139					generation of precursor metabolites and energy|glucosamine catabolic process|N-acetylglucosamine metabolic process|single fertilization	cytoplasm	glucosamine-6-phosphate deaminase activity|hydrolase activity			central_nervous_system(1)|lung(1)|skin(3)|stomach(1)	6		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCATCAGGGCCGATGCCTATA	0.552000													10	23					9.70103e-10	1.11207e-09	1	1	0
TTLL2	83887	broad.mit.edu	37	6	167753608	167753608	+	Missense_Mutation	SNP	A	A	T			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr6:167753608A>T	ENST00000239587.5	+	3	308	c.220A>T	c.(220-222)Atg>Ttg	p.M74L		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	74					protein modification process		ATP binding|tubulin-tyrosine ligase activity	p.M74V(1)		central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		ACCTCATTTGATGGCGGAAGA	0.512000													28	9					0	0	1	0	0
LST3	0	broad.mit.edu	37	12	21201742	21201742	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr12:21201742C>T	ENST00000381541.3	+	9	1297	c.1232C>T	c.(1231-1233)gCa>gTa	p.A411V	LST3_ENST00000540229.1_Intron|SLCO1B7_ENST00000554957.1_Missense_Mutation_p.A411V|SLCO1B3_ENST00000553473.1_Intron|SLCO1B7_ENST00000421593.2_Missense_Mutation_p.A364V																							GCCAAATTGGCATTTTGTTCT	0.393000													8	10					0	0	1	0	0
ST20	400410	broad.mit.edu	37	15	80191311	80191311	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr15:80191311G>C	ENST00000478497.1	-	3	881	c.202C>G	c.(202-204)Ctt>Gtt	p.L68V	ST20-MTHFS_ENST00000479961.1_Intron|ST20-MTHFS_ENST00000494999.1_Intron|ST20_ENST00000562759.1_Missense_Mutation_p.L68V|ST20_ENST00000485386.1_Missense_Mutation_p.L68V	NM_001100879.1	NP_001094349.1			suppressor of tumorigenicity 20											kidney(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4						GTTTTCGTAAGAGTCAGAAAA	0.363000													51	49					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766		TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr12:132547087G>A	ENST00000333577.4	+	48	8392	c.8283G>A	c.(8281-8283)caG>caA	p.Q2761Q	EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000332482.4_Silent_p.Q2688Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2761	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2724Q(16)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562000													4	50					0	0	1	0	0
CA6	765	broad.mit.edu	37	1	9027819	9027819	+	Missense_Mutation	SNP	A	A	G			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr1:9027819A>G	ENST00000377443.2	+	6	677	c.673A>G	c.(673-675)Act>Gct	p.T225A	CA6_ENST00000377436.3_Missense_Mutation_p.T225A|CA6_ENST00000476083.1_3'UTR|CA6_ENST00000377442.2_Missense_Mutation_p.T165A	NM_001215.3	NP_001206.2	P23280	CAH6_HUMAN	carbonic anhydrase VI	225					one-carbon metabolic process	extracellular region	carbonate dehydratase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5)	16	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)		GCCTCCCTGCACTGAGAACGT	0.522000													16	43					0	0	1	0	0
ZNF143	7702	broad.mit.edu	37	11	9495562	9495562	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr11:9495562C>A	ENST00000396602.2	+	4	399	c.280C>A	c.(280-282)Cct>Act	p.P94T	ZNF143_ENST00000530463.1_Missense_Mutation_p.P94T|ZNF143_ENST00000396604.1_Missense_Mutation_p.P94T|ZNF143_ENST00000299606.2_Missense_Mutation_p.P94T|ZNF143_ENST00000396597.3_Missense_Mutation_p.P63T	NM_003442.5	NP_003433.3	P52747	ZN143_HUMAN	zinc finger protein 143	94					regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|zinc ion binding			endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	13				all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)		TGTACCCATACCTAAAAGTAG	0.378000													44	72					2.52991e-16	3.30293e-16	1	1	0
FIBP	9158	broad.mit.edu	37	11	65655520	65655520	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr11:65655520T>C	ENST00000338369.2	-	2	281	c.169A>G	c.(169-171)Atg>Gtg	p.M57V	FIBP_ENST00000357519.4_Missense_Mutation_p.M57V|FIBP_ENST00000426652.2_5'UTR|FIBP_ENST00000533045.1_Missense_Mutation_p.M54V	NM_198897.1	NP_942600.1	O43427	FIBP_HUMAN	fibroblast growth factor (acidic) intracellular binding protein	57					fibroblast growth factor receptor signaling pathway	endomembrane system|membrane|microsome|mitochondrion|nucleus	fibroblast growth factor binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	10				READ - Rectum adenocarcinoma(159;0.166)		TAATGGTCCATGGTGTCGCTC	0.667000											OREG0021090	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	3					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216246299	216246299	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr1:216246299C>A	ENST00000366943.2	-	29	6175	c.5789G>T	c.(5788-5790)cGa>cTa	p.R1930L	RP11-22M7.2_ENST00000445619.1_RNA|RP11-22M7.2_ENST00000446411.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA|USH2A_ENST00000307340.3_Missense_Mutation_p.R1930L			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1930	Fibronectin type-III 5.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GGCTATCACTCGATACAGGTA	0.403000										HNSCC(13;0.011)			35	120					3.78316e-11	4.37234e-11	1	1	0
RBM10	8241	broad.mit.edu	37	X	47045017	47045017	+	Silent	SNP	A	A	G			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chrX:47045017A>G	ENST00000377604.3	+	20	3085	c.2343A>G	c.(2341-2343)tcA>tcG	p.S781S	RBM10_ENST00000468791.1_Intron|RBM10_ENST00000329236.7_Silent_p.S703S|RBM10_ENST00000345781.6_Silent_p.S704S	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	781					mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						AGCAGCTCTCAGGGCTCCACA	0.622000													4	1					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	4851912	4851912	+	Silent	SNP	C	C	A			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr8:4851912C>A	ENST00000520002.1	-	1	582	c.27G>T	c.(25-27)tcG>tcT	p.S9S	CSMD1_ENST00000539096.1_Silent_p.S9S|CSMD1_ENST00000602557.1_Silent_p.S9S|CSMD1_ENST00000542608.1_Silent_p.S9S|CSMD1_ENST00000400186.3_Silent_p.S9S|CSMD1_ENST00000537824.1_Silent_p.S9S|CSMD1_ENST00000602723.1_Silent_p.S9S			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	9						integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GCAGGAGCAGCGACTGGAATC	0.632000													13	33					3.52763e-06	3.9165e-06	1	1	0
RASA1	5921	broad.mit.edu	37	5	86627281	86627281	+	Nonsense_Mutation	SNP	C	C	A			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr5:86627281C>A	ENST00000456692.2	+	2	240	c.125C>A	c.(124-126)tCa>tAa	p.S42*	RASA1_ENST00000274376.6_Nonsense_Mutation_p.S219*|RASA1_ENST00000512763.1_Nonsense_Mutation_p.S52*|RASA1_ENST00000506290.1_Nonsense_Mutation_p.S53*	NM_022650.2	NP_072179.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	219					cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		TTTGTACTTTCATTTCTTAGC	0.388000													15	55					2.31682e-05	2.55212e-05	1	1	0
SLC4A2	6522	broad.mit.edu	37	7	150771283	150771283	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr7:150771283C>A	ENST00000485713.1	+	17	3733	c.2693C>A	c.(2692-2694)cCc>cAc	p.P898H	SLC4A2_ENST00000392826.2_Missense_Mutation_p.P889H|SLC4A2_ENST00000413384.2_Missense_Mutation_p.P898H|SLC4A2_ENST00000310317.5_Missense_Mutation_p.P816H|SLC4A2_ENST00000461735.1_Missense_Mutation_p.P884H	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	898	Membrane (anion exchange).				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGGGGCCAGCCCAACACGGCC	0.662000													3	40					0.115264	0.116922	1	1	0
SV2A	9900	broad.mit.edu	37	1	149884879	149884879	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr1:149884879G>T	ENST00000369146.3	-	2	1004	c.514C>A	c.(514-516)Ctt>Att	p.L172I	SV2A_ENST00000369145.1_Missense_Mutation_p.L172I	NM_014849.3	NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	172					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	GCCAGACCAAGCACAAAATAC	0.572000													26	57					7.92952e-12	9.31719e-12	1	1	0
TRPM3	80036	broad.mit.edu	37	9	73213399	73213399	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr9:73213399C>T	ENST00000377110.2	-	20	3191	c.2948G>A	c.(2947-2949)cGt>cAt	p.R983H	TRPM3_ENST00000396280.5_Missense_Mutation_p.R832H|TRPM3_ENST00000377105.1_Missense_Mutation_p.R842H|TRPM3_ENST00000377111.2_Missense_Mutation_p.R983H|TRPM3_ENST00000377106.1_Missense_Mutation_p.R855H|TRPM3_ENST00000360823.2_Missense_Mutation_p.R845H|TRPM3_ENST00000408909.2_Missense_Mutation_p.R842H|TRPM3_ENST00000357533.2_Missense_Mutation_p.R987H|TRPM3_ENST00000423814.3_Missense_Mutation_p.R1010H|TRPM3_ENST00000396285.1_Missense_Mutation_p.R830H|TRPM3_ENST00000396292.4_Missense_Mutation_p.R855H|TRPM3_ENST00000358082.3_Missense_Mutation_p.R845H	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1008						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GTCTAGGAGACGGATATACCA	0.448000													65	57					0	0	1	0	0
CFB	629	broad.mit.edu	37	6	31896516	31896516	+	Silent	SNP	C	C	T			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr6:31896516C>T	ENST00000477310.1	+	3	293	c.264C>T	c.(262-264)cgC>cgT	p.R88R	C2_ENST00000469372.1_Intron|C2_ENST00000418949.2_Silent_p.R88R|CFB_ENST00000556679.1_Intron|C2_ENST00000442278.2_Intron|CFB_ENST00000456570.1_Intron|C2_ENST00000299367.5_Silent_p.R88R|C2_ENST00000452323.2_Intron			P00751	CFAB_HUMAN	complement factor B	102	Sushi 1.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						CAGCTGTGCGCTGTCCAGCCC	0.542000													56	65					0	0	1	0	0
DPY19L3	147991	broad.mit.edu	37	19	32954830	32954830	+	Missense_Mutation	SNP	A	A	G			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr19:32954830A>G	ENST00000342179.5	+	14	1716	c.1501A>G	c.(1501-1503)Agc>Ggc	p.S501G	DPY19L3_ENST00000586987.1_Missense_Mutation_p.S501G|DPY19L3_ENST00000590651.1_3'UTR|DPY19L3_ENST00000392250.2_Missense_Mutation_p.S501G	NM_207325.2	NP_997208.2	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3 (C. elegans)	501						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32	Esophageal squamous(110;0.162)					CGGCCTATGTAGCCCTGAAAT	0.438000													66	247					0	0	1	0	0
CA3	761	broad.mit.edu	37	8	86357439	86357439	+	Missense_Mutation	SNP	A	A	C			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr8:86357439A>C	ENST00000285381.2	+	5	582	c.499A>C	c.(499-501)Aag>Cag	p.K167Q	RP11-317J10.2_ENST00000517697.1_RNA|RP11-317J10.2_ENST00000521761.1_RNA	NM_005181.3	NP_005172.1	P07451	CAH3_HUMAN	carbonic anhydrase III, muscle specific	167					one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						GGACAAGATTAAGACAAAGGT	0.313000													23	22					0	0	1	0	0
SLC5A6	8884	broad.mit.edu	37	2	27426720	27426720	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr2:27426720C>A	ENST00000310574.3	-	10	1494	c.1021G>T	c.(1021-1023)Gtg>Ttg	p.V341L	SLC5A6_ENST00000408041.1_Missense_Mutation_p.V341L	NM_021095.2	NP_066918.2	Q9Y289	SC5A6_HUMAN	solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6	341					biotin metabolic process|pantothenate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent multivitamin transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|Lipoic Acid(DB00166)	AGATCCATCACAAAGTACAGG	0.582000													15	18					4.75885e-15	6.09998e-15	1	1	0
RFTN1	23180	broad.mit.edu	37	3	16411726	16411726	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr3:16411726T>C	ENST00000334133.4	-	6	1159	c.887A>G	c.(886-888)tAc>tGc	p.Y296C	RFTN1_ENST00000432519.1_Missense_Mutation_p.Y260C|RFTN1_ENST00000483671.1_5'UTR	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	296						plasma membrane				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						GGTGACAGGGTAGTATTGCCG	0.502000													75	171					0	0	1	0	0
SNX17	9784	broad.mit.edu	37	2	27598474	27598474	+	Silent	SNP	G	G	A	rs143476894		TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr2:27598474G>A	ENST00000233575.2	+	10	1098	c.876G>A	c.(874-876)gcG>gcA	p.A292A	SNX17_ENST00000537606.1_Silent_p.A267A|SNX17_ENST00000542478.1_Silent_p.A78A|SNX17_ENST00000543024.1_Silent_p.A78A	NM_001267059.1|NM_001267061.1|NM_014748.3	NP_001253988.1|NP_001253990.1|NP_055563.1	Q15036	SNX17_HUMAN	sorting nexin 17	292					cell communication|endosome transport|intracellular protein transport|regulation of endocytosis|signal transduction	cytoplasmic vesicle membrane|cytosol|early endosome|Golgi apparatus	low-density lipoprotein particle receptor binding|phosphatidylinositol binding|protein C-terminus binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGGTGAGCGCGGGCAACAGTG	0.632000													18	141					0	0	1	0	0
XIRP1	165904	broad.mit.edu	37	3	39227249	39227249	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr3:39227249G>T	ENST00000340369.3	-	2	3916	c.3688C>A	c.(3688-3690)Cct>Act	p.P1230T	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1230							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CGGCCTAGAGGGGCAGTCTTC	0.657000													5	14					0.184627	0.185946	1	1	0
UQCRC2	7385	broad.mit.edu	37	16	21969921	21969921	+	Splice_Site	SNP	G	G	C			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr16:21969921G>C	ENST00000268379.4	+	4	1096		c.e4+1		UQCRC2_ENST00000561553.1_Splice_Site	NM_003366.2	NP_003357.2	P22695	QCR2_HUMAN	ubiquinol-cytochrome c reductase core protein II						aerobic respiration|oxidative phosphorylation|proteolysis|respiratory electron transport chain|transport		metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(48;0.0264)		GCAAATTAAGGTTTGTTAAAT	0.323000													6	47					0	0	1	0	0
FCRL4	83417	broad.mit.edu	37	1	157551402	157551402	+	Missense_Mutation	SNP	C	C	T	rs146388580	byFrequency	TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr1:157551402C>T	ENST00000271532.1	-	7	1303	c.1168G>A	c.(1168-1170)Gcg>Acg	p.A390T	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	390						integral to membrane|plasma membrane	receptor activity	p.A390T(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				GTGGCTCCCGCGGCGACAAGG	0.572000													5	37					0	0	1	0	0
HMGA2	8091	broad.mit.edu	37	12	66232299	66232299	+	Splice_Site	SNP	A	A	G			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr12:66232299A>G	ENST00000541363.1	+	3	572	c.198_splice	c.e3-1	p.K67_splice	HMGA2_ENST00000354636.3_Splice_Site_p.K67_splice|HMGA2_ENST00000425208.2_Splice_Site_p.K67_splice|HMGA2_ENST00000403681.2_Splice_Site_p.K67_splice|HMGA2_ENST00000536545.1_Splice_Site_p.K67_splice|HMGA2_ENST00000393577.3_Splice_Site_p.K67_splice|HMGA2_ENST00000393578.3_Splice_Site_p.K67_splice			P52926	HMGA2_HUMAN	high mobility group AT-hook 2	67					cell division|chromatin organization|mitosis|multicellular organismal development|regulation of growth|transcription, DNA-dependent	chromatin	AT DNA binding		HMGA2/RAD51B(11)|HMGA2/CCNB1IP1(2)|HMGA2/WIF1_ENST00000286574(14)|HMGA2/ALDH2_ENST00000261733(2)|HMGA2/EBF1(2)|HMGA2/LHFP(2)|HMGA2/NFIB_ENST00000397581(8)|HMGA2/LPP(161)|HMGA2/FHIT_ENST00000476844(4)|HMGA2/COX6C(2)	lung(2)	2	all_cancers(1;5.78e-46)		GBM - Glioblastoma multiforme(1;0.00179)|LUSC - Lung squamous cell carcinoma(43;0.156)	GBM - Glioblastoma multiforme(28;0.0386)		TCATTTGCAGAAAGCAGAAGC	0.353000			T	""" LHFP, RAD51L1, LPP, COX6C, CMKOR1, NFIB, ALDH2, CCNB1IP1, EBF1, WIF1, FHIT"""	"""lipoma, leiomyoma, pleiomorphic salivary gland adenoma"""								6	37					0	0	1	0	0
PPM1D	8493	broad.mit.edu	37	17	58700948	58700948	+	Missense_Mutation	SNP	T	T	A			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr17:58700948T>A	ENST00000305921.3	+	2	771	c.539T>A	c.(538-540)aTt>aAt	p.I180N		NM_003620.3	NP_003611.1	O15297	PPM1D_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1D	180	PP2C-like.				negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			GTGGTCATCATTCGGGGCATG	0.473000													6	368					0	0	1	0	0
ANKRD27	84079	broad.mit.edu	37	19	33135266	33135266	+	Nonsense_Mutation	SNP	G	G	A			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr19:33135266G>A	ENST00000306065.4	-	5	648	c.490C>T	c.(490-492)Cga>Tga	p.R164*	ANKRD27_ENST00000587352.1_Nonsense_Mutation_p.R164*	NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	164				HRTFRECERKSLRHHI -> LIEHSENARERASVTT (in Ref. 4; AAQ04657).	early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					TCGCATTCTCGGAATGTTCGA	0.537000													21	413					0	0	1	0	0
GABRA4	2557	broad.mit.edu	37	4	46967031	46967031	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr4:46967031C>A	ENST00000264318.3	-	8	2072	c.1090G>T	c.(1090-1092)Gct>Tct	p.A364S		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	364					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	ACTGGAGCAGCGGGAACTTCC	0.428000													12	49					0.00185496	0.00192315	1	1	0
PDCD4	27250	broad.mit.edu	37	10	112655791	112655791	+	Missense_Mutation	SNP	A	A	T			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr10:112655791A>T	ENST00000393104.2	+	12	1622	c.1262A>T	c.(1261-1263)gAa>gTa	p.E421V	PDCD4_ENST00000280154.7_Missense_Mutation_p.E432V	NM_145341.3	NP_663314.1	Q53EL6	PDCD4_HUMAN	programmed cell death 4 (neoplastic transformation inhibitor)	432	MI 2.				apoptosis|cell aging|negative regulation of cell cycle|negative regulation of JUN kinase activity|negative regulation of transcription, DNA-dependent	cytosol|nucleus	protein binding|RNA binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	13		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)		TTTGTAGAAGAATGTTTTCAG	0.353000													3	39					0	0	1	0	0
UHMK1	127933	broad.mit.edu	37	1	162470776	162470776	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr1:162470776G>T	ENST00000489294.1	+	3	793	c.635G>T	c.(634-636)gGc>gTc	p.G212V	UHMK1_ENST00000538489.1_Missense_Mutation_p.G212V|UHMK1_ENST00000545294.1_Missense_Mutation_p.G138V|UHMK1_ENST00000282169.8_3'UTR	NM_175866.4	NP_787062.1	Q8TAS1	UHMK1_HUMAN	U2AF homology motif (UHM) kinase 1	212	Protein kinase.				cell cycle arrest|neuron projection development|peptidyl-serine phosphorylation|positive regulation of translational initiation|protein autophosphorylation|regulation of protein export from nucleus	axon|dendrite cytoplasm|neuronal RNA granule|nucleus	protein binding|protein serine/threonine kinase activity|ribonucleoprotein binding|RNA binding			endometrium(1)|large_intestine(2)|lung(6)|prostate(2)	11	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			GCCCAGGCTGGCCTGCAGAGT	0.418000													23	74					2.12542e-12	2.51835e-12	1	1	0
MED12L	116931	broad.mit.edu	37	3	151101588	151101588	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr3:151101588G>C	ENST00000474524.1	+	32	4635	c.4597G>C	c.(4597-4599)Gtg>Ctg	p.V1533L	MED12L_ENST00000273432.4_Missense_Mutation_p.V1393L|P2RY12_ENST00000302632.3_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1533					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GTTTGACACGGTGCAGAGGAG	0.403000													12	34					0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537000													4	42					0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38616870	38616870	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr3:38616870C>T	ENST00000413689.1	-	20	3777	c.3584G>A	c.(3583-3585)cGc>cAc	p.R1195H	SCN5A_ENST00000455624.2_Missense_Mutation_p.R1194H|SCN5A_ENST00000451551.2_Missense_Mutation_p.R1141H|SCN5A_ENST00000450102.2_Missense_Mutation_p.R1141H|SCN5A_ENST00000425664.1_Missense_Mutation_p.R1195H|SCN5A_ENST00000449557.2_Missense_Mutation_p.R1141H|SCN5A_ENST00000443581.1_Missense_Mutation_p.R1194H|SCN5A_ENST00000423572.2_Missense_Mutation_p.R1194H|SCN5A_ENST00000414099.2_Missense_Mutation_p.R1195H|SCN5A_ENST00000333535.4_Missense_Mutation_p.R1195H	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1195					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	p.R1195H(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GCAGGTCTTGCGCAACCGCCA	0.612000													5	17					0	0	1	0	0
CELSR2	1952	broad.mit.edu	37	1	109792735	109792736	+	In_Frame_Ins	INS	-	-	CGC	rs145548198	by1000genomes	TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr1:109792735_109792736insCGC	ENST00000271332.3	+	1	95_96	c.34_35insCGC	c.(34-36)gcc>CGCgcc	p.11_12insR		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	11					dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CCCCCTCCCAACgccgccgccg	0.752													11	2	---	---	---	---					
LINC01250	101927554	broad.mit.edu	37	2	2910768	2910769	+	RNA	INS	-	-	T	rs142585959	by1000genomes	TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr2:2910768_2910769insT	ENST00000457478.1	-	0	594																											tccaccccctctcccCAGCCCA	0.698													5	7	---	---	---	---					
FAM86JP	100125556	broad.mit.edu	37	3	125647237	125647238	+	RNA	INS	-	-	C			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr3:125647237_125647238insC	ENST00000485843.1	+	0	482					NR_024251.1																						CTTGGACACCGCCCCCCCACCC	0.564													2	4	---	---	---	---					
F13A1	2162	broad.mit.edu	37	6	6145974	6145974	+	Frame_Shift_Del	DEL	C	C	-			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr6:6145974delC	ENST00000264870.3	-	15	2342	c.2077delG	c.(2077-2079)aafs	p.E694fs		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	694					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	CACACTTCTTCCCACTGCACG	0.537													55	72	---	---	---	---					
DLX6	1750	broad.mit.edu	37	7	96635545	96635547	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr7:96635545_96635547delCAC	ENST00000518156.2	+	1	686_688	c.256_258delCAC	c.(256-258)del	p.H91del	DLX6-AS1_ENST00000458352.2_RNA|DLX6-AS1_ENST00000430027.2_RNA|DLX6-AS1_ENST00000437331.2_RNA|DLX6_ENST00000007660.5_In_Frame_Del_p.H63del|DLX6-AS1_ENST00000430404.2_RNA|DLX6-AS1_ENST00000605417.1_RNA|DLX6-AS1_ENST00000452769.2_RNA|DLX6-AS1_ENST00000437541.1_RNA			P56179	DLX6_HUMAN	distal-less homeobox 6	0					nervous system development|skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					GGCCGGCTCGcaccaccaccacc	0.729													2	4	---	---	---	---					
PNPLA7	375775	broad.mit.edu	37	9	140417297	140417301	+	Frame_Shift_Del	DEL	GTGCA	GTGCA	-			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr9:140417297_140417301delGTGCA	ENST00000406427.1	-	9	1092_1096	c.756_760delTGCAC	c.(754-762)gcctfs	p.AAP252fs	PNPLA7_ENST00000277531.4_Frame_Shift_Del_p.AAP227fs	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	227					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		GTTTTGTAAGGTGCAGCATGGCCCT	0.605													19	86	---	---	---	---					
MIR3663HG	101927704	broad.mit.edu	37	10	118928273	118928274	+	RNA	INS	-	-	CCCT	rs143033675		TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr10:118928273_118928274insCCCT	ENST00000419373.2	-	0	200																											CTCTTGTccacccccccccgcc	0.609													2	4	---	---	---	---					
CTD-2134A5.4	0	broad.mit.edu	37	14	104333429	104333429	+	RNA	DEL	G	G	-			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr14:104333429delG	ENST00000555967.1	-	0	403																											CTGCAGGGCTGGGGGGGTGGG	0.617													2	4	---	---	---	---					
CTB-58E17.3	0	broad.mit.edu	37	17	36861701	36861703	+	RNA	DEL	GAG	GAG	-			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr17:36861701_36861703delGAG	ENST00000583409.1	-	0	208																											CAGAGCGAGCgaggaggaggagg	0.734													3	5	---	---	---	---					
BCL3	602	broad.mit.edu	37	19	45262737	45262737	+	Frame_Shift_Del	DEL	C	C	-			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr19:45262737delC	ENST00000164227.5	+	9	1474	c.1230delC	c.(1228-1230)gafs	p.D410fs		NM_005178.4	NP_005169.2	P20749	BCL3_HUMAN	B-cell CLL/lymphoma 3	410	Pro/Ser-rich.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|I-kappaB kinase/NF-kappaB cascade|maintenance of protein location in nucleus|negative regulation of apoptosis|negative regulation of interleukin-8 biosynthetic process|negative regulation of transcription, DNA-dependent|positive regulation of translation|protein import into nucleus, translocation|regulation of DNA binding|regulation of NF-kappaB import into nucleus|response to UV-C|response to virus	Bcl3-Bcl10 complex|Bcl3/NF-kappaB2 complex|nucleus|perinuclear region of cytoplasm	protein binding, bridging|transcription factor binding			kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	Lung NSC(12;0.000698)|all_lung(12;0.002)	Ovarian(192;0.0728)				CCCCCAGGGACCCCCCTGGAT	0.642			T	IGH@	CLL								7	959	---	---	---	---					
MBTPS2	51360	broad.mit.edu	37	X	21857869	21857871	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chrX:21857869_21857871delTGG	ENST00000365779.2	+	1	98_100	c.17_19delTGG	c.(16-21)ctg>c	p.LV6del	MBTPS2_ENST00000465888.1_3'UTR|MBTPS2_ENST00000379484.5_In_Frame_Del_p.LV6del			O43462	MBTP2_HUMAN	membrane-bound transcription factor peptidase, site 2	6					cholesterol metabolic process|proteolysis	Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity			breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24						CCGGTGTCGCTGGTGGTGGTGGT	0.685													2	4	---	---	---	---					
