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
IQCH	64799	broad.mit.edu	37	15	67681242	67681242	+	Silent	SNP	C	C	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr15:67681242C>T	ENST00000335894.4	+	12	1596	c.1530C>T	c.(1528-1530)atC>atT	p.I510I	IQCH_ENST00000546225.1_Silent_p.I258I|IQCH_ENST00000358767.3_Silent_p.I337I|IQCH_ENST00000360277.4_Silent_p.I262I	NM_001031715.2	NP_001026885.1	Q86VS3	IQCH_HUMAN	IQ motif containing H	510										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		ACAAAAAAATCCTAAGTCTAC	0.403000													32	48					0	0	0.0024448	0	0
WASF1	8936	broad.mit.edu	37	6	110429744	110429744	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr6:110429744G>A	ENST00000392589.1	-	6	1245	c.409C>T	c.(409-411)Ctc>Ttc	p.L137F	WASF1_ENST00000392587.2_Missense_Mutation_p.L137F|WASF1_ENST00000359451.2_Missense_Mutation_p.L137F|WASF1_ENST00000392588.1_Missense_Mutation_p.L137F|WASF1_ENST00000392586.1_Missense_Mutation_p.L137F	NM_003931.2	NP_003922.1	Q92558	WASF1_HUMAN	WAS protein family, member 1	137					actin filament polymerization|cellular component movement	actin cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687)		TAAGGAGTGAGTATATTGAGA	0.378000													27	20					0	0	0.00106085	0	0
GUCY2F	2986	broad.mit.edu	37	X	108684598	108684598	+	Silent	SNP	G	G	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chrX:108684598G>A	ENST00000218006.2	-	7	1974	c.1683C>T	c.(1681-1683)tcC>tcT	p.S561S		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	561	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						TCGCTATGTTGGAGTTTTCAT	0.413000													96	24					0	0	0.00361006	0	0
GNL1	2794	broad.mit.edu	37	6	30514975	30514975	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr6:30514975G>A	ENST00000376621.3	-	10	2325	c.1355C>T	c.(1354-1356)cCc>cTc	p.P452L		NM_005275.3	NP_005266.2	P36915	GNL1_HUMAN	guanine nucleotide binding protein-like 1	452					response to DNA damage stimulus|signal transduction|T cell mediated immunity	extracellular space|intracellular	GTP binding|structural molecule activity			cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						GGCCTGCACGGGAATTCGGGA	0.617000													45	62					0	0	0.0025221	0	0
KIAA0430	9665	broad.mit.edu	37	16	15719493	15719493	+	Silent	SNP	G	G	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr16:15719493G>A	ENST00000396368.3	-	8	1895	c.1689C>T	c.(1687-1689)cgC>cgT	p.R563R	KIAA0430_ENST00000551742.1_Silent_p.R562R|KIAA0430_ENST00000548025.1_Silent_p.R560R|KIAA0430_ENST00000602337.1_Silent_p.R560R|KIAA0430_ENST00000540441.2_Intron|KIAA0430_ENST00000344181.3_Silent_p.R385R	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN	KIAA0430	562						peroxisome	nucleotide binding|RNA binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						GCTTCTGAGCGCGCTCTGCAC	0.438000													70	70					0	0	0.00361006	0	0
ARPP21	10777	broad.mit.edu	37	3	35750473	35750473	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr3:35750473C>T	ENST00000187397.4	+	11	1264	c.808C>T	c.(808-810)Cat>Tat	p.H270Y	ARPP21_ENST00000417925.1_Intron|ARPP21_ENST00000458225.1_Intron|ARPP21_ENST00000444190.1_Intron|ARPP21_ENST00000337271.5_Intron	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	270						cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						AAACAGAATGCATCCATTTAG	0.373000													5	21					0	0	0.00116845	0	0
ADD2	119	broad.mit.edu	37	2	70903875	70903875	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr2:70903875G>A	ENST00000413157.2	-	13	2125	c.1646C>T	c.(1645-1647)tCt>tTt	p.S549F	ADD2_ENST00000407644.2_Intron|ADD2_ENST00000264436.3_Intron|ADD2_ENST00000355733.3_Intron|ADD2_ENST00000430656.1_Missense_Mutation_p.S565F	NM_017482.3	NP_059516.2	P35612	ADDB_HUMAN	adducin 2 (beta)	0					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						AGGCACAGAAGACCCCGAAGG	0.627000													15	13					0	0	0.00244969	0	0
SLC22A25	387601	broad.mit.edu	37	11	62933651	62933651	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr11:62933651G>A	ENST00000306494.6	-	7	1149	c.1150C>T	c.(1150-1152)Ctc>Ttc	p.L384F	SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000525620.1_Intron	NM_199352.3	NP_955384.3	Q6T423	S22AP_HUMAN	solute carrier family 22, member 25	384					transmembrane transport	integral to membrane				NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						GCACCAAAGAGAGTCTGCAAC	0.498000													12	36					0	0	0.00185496	0	0
IMPG1	3617	broad.mit.edu	37	6	76712713	76712713	+	Splice_Site	SNP	C	C	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr6:76712713C>T	ENST00000369950.3	-	12	1402	c.1212_splice	c.e12-1	p.D405_splice	IMPG1_ENST00000369963.3_3'UTR	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	405					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				AAAGTAGCATCCTGAAGAATG	0.413000													22	13					0	0	0.00229938	0	0
CHGB	1114	broad.mit.edu	37	20	5903620	5903620	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr20:5903620G>A	ENST00000378961.4	+	4	1034	c.830G>A	c.(829-831)cGa>cAa	p.R277Q		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	277						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						GTGGACAAACGACGCACGAGG	0.607000													6	7					0	0	0.00116845	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857959	9857959	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr16:9857959G>A	ENST00000396573.2	-	14	3751	c.3442C>T	c.(3442-3444)Ccg>Tcg	p.P1148S	GRIN2A_ENST00000562109.1_Missense_Mutation_p.P1148S|GRIN2A_ENST00000535259.1_Missense_Mutation_p.P991S|GRIN2A_ENST00000404927.2_Missense_Mutation_p.P1148S|GRIN2A_ENST00000330684.3_Missense_Mutation_p.P1148S|GRIN2A_ENST00000396575.2_Missense_Mutation_p.P1148S	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1148					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TAGGGGTCCGGGAAGTCCACG	0.522000													61	91					0	0	0.00361006	0	0
JAKMIP2	9832	broad.mit.edu	37	5	147019213	147019213	+	Silent	SNP	G	G	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr5:147019213G>A	ENST00000265272.5	-	10	1979	c.1512C>T	c.(1510-1512)gaC>gaT	p.D504D	JAKMIP2_ENST00000333010.6_Silent_p.D462D|JAKMIP2_ENST00000507386.1_Silent_p.D504D	NM_014790.3	NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	504						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCGTTCAGCGTCGATGATGC	0.443000													197	33					0	0	0.00361006	0	0
IGHV1-46	28465	broad.mit.edu	37	14	106967386	106967386	+	RNA	SNP	C	C	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr14:106967386C>T	ENST00000390622.2	-	0	350																											AATGACAGTCCTCTAAACTGG	0.572000													36	44					0	0	0.00327116	0	0
LPCAT1	79888	broad.mit.edu	37	5	1463832	1463832	+	Silent	SNP	G	G	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr5:1463832G>A	ENST00000283415.3	-	14	1671	c.1539C>T	c.(1537-1539)ttC>ttT	p.F513F	LPCAT1_ENST00000503252.1_5'UTR	NM_024830.3	NP_079106.3	Q8NF37	PCAT1_HUMAN	lysophosphatidylcholine acyltransferase 1	513					phospholipid biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)		AATCGGCACAGAAGCCGTTTG	0.582000													24	37					0	0	0.00278032	0	0
OR11H1	81061	broad.mit.edu	37	22	16449062	16449062	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr22:16449062C>T	ENST00000252835.4	-	1	743	c.743G>A	c.(742-744)gGg>gAg	p.G248E		NM_001005239.1	NP_001005239.1	Q8NG94	O11H1_HUMAN	olfactory receptor, family 11, subfamily H, member 1	248					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)	11	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.208)		Kidney(3;0.00216)|KIRC - Kidney renal clear cell carcinoma(3;0.00244)|Lung(27;0.0724)|COAD - Colon adenocarcinoma(3;0.211)		CTTATGTCTCCCAGTGCTTGA	0.433000													96	142					0	0	0.00361006	0	0
CCL27	10850	broad.mit.edu	37	9	34661981	34661981	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr9:34661981A>G	ENST00000259631.4	-	3	357	c.299T>C	c.(298-300)cTg>cCg	p.L100P	RP11-195F19.30_ENST00000564224.1_RNA|CCL27_ENST00000557161.1_5'UTR	NM_006664.2	NP_006655.1	Q9Y4X3	CCL27_HUMAN	chemokine (C-C motif) ligand 27	100					cell-cell signaling|chemotaxis|immune response	extracellular space	chemokine activity			kidney(1)|large_intestine(3)|ovary(1)	5	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		CAGCTTGGGCAGAGTCCCATG	0.493000													85	28					0	0	0.00361006	0	0
PCLO	27445	broad.mit.edu	37	7	82582174	82582174	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr7:82582174G>A	ENST00000423517.2	-	5	8432	c.8095C>T	c.(8095-8097)Cct>Tct	p.P2699S	PCLO_ENST00000333891.8_Missense_Mutation_p.P2699S	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2630					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGCTCTGGAGGAATTGTTATG	0.403000													56	42					0	0	0.00361006	0	0
GPR143	4935	broad.mit.edu	37	X	9716651	9716651	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chrX:9716651C>T	ENST00000467482.1	-	4	657	c.511G>A	c.(511-513)Gag>Aag	p.E171K	GPR143_ENST00000380929.2_Missense_Mutation_p.E191K			P51810	GP143_HUMAN	G protein-coupled receptor 143	171					calcium-mediated signaling using intracellular calcium source|eye pigment biosynthetic process|melanosome organization|melanosome transport|phosphatidylinositol-mediated signaling|regulation of calcium-mediated signaling|visual perception	apical plasma membrane|Golgi apparatus|integral to membrane|lysosomal membrane|melanosome membrane|membrane fraction	dopamine binding|L-DOPA receptor activity|protein binding|tyrosine binding			endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Hepatocellular(5;0.000888)				GCGGCTCCCTCCACACAGAGC	0.602000													31	11					0	0	0.00327116	0	0
DCC	1630	broad.mit.edu	37	18	51025846	51025846	+	Silent	SNP	G	G	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr18:51025846G>A	ENST00000442544.2	+	27	4693	c.4077G>A	c.(4075-4077)ccG>ccA	p.P1359P	RP11-671P2.1_ENST00000582064.1_RNA|DCC_ENST00000581580.1_Silent_p.P992P	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	1359					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CAATAGAACCGAAAGTCCCTT	0.448000													57	90					0	0	0.00361006	0	0
PLXND1	23129	broad.mit.edu	37	3	129288764	129288764	+	Missense_Mutation	SNP	G	G	C			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr3:129288764G>C	ENST00000393239.1	-	20	3965	c.3787C>G	c.(3787-3789)Ctg>Gtg	p.L1263V	PLXND1_ENST00000324093.4_Missense_Mutation_p.L1263V			Q9Y4D7	PLXD1_HUMAN	plexin D1	1263					axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						CCCAGCTGCAGTGTGGCGATG	0.587000													25	31					0	0	0.00106085	0	0
PTPN9	5780	broad.mit.edu	37	15	75798294	75798294	+	Nonsense_Mutation	SNP	A	A	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr15:75798294A>T	ENST00000306726.2	-	7	1202	c.690T>A	c.(688-690)tgT>tgA	p.C230*		NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type 9	230	CRAL-TRIO.					cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTTCTGGAAGACACTCCCTGG	0.493000													32	49					0	0	0.00283554	0	0
POLR2C	5432	broad.mit.edu	37	16	57503961	57503961	+	Missense_Mutation	SNP	G	G	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr16:57503961G>T	ENST00000219252.5	+	7	866	c.528G>T	c.(526-528)tgG>tgT	p.W176C	POLR2C_ENST00000564651.1_3'UTR	NM_032940.2	NP_116558.1	P19387	RPB3_HUMAN	polymerase (RNA) II (DNA directed) polypeptide C, 33kDa	176					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	10						ATGCCAAGTGGAACCCTACTG	0.542000													13	7					9.31168e-06	3.22472e-05	0.00185496	1	0
MYT1L	23040	broad.mit.edu	37	2	1843100	1843100	+	Silent	SNP	C	C	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr2:1843100C>T	ENST00000399161.2	-	21	3648	c.2901G>A	c.(2899-2901)ggG>ggA	p.G967G	MYT1L_ENST00000428368.2_Silent_p.G965G|MYT1L_ENST00000471668.1_5'UTR|MYT1L_ENST00000407844.1_5'UTR	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	967					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		ACGCGTACTTCCCAGTGATGT	0.642000													53	58					0	0	0.00361006	0	0
MYBPC2	4606	broad.mit.edu	37	19	50947068	50947068	+	Silent	SNP	G	G	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr19:50947068G>A	ENST00000357701.5	+	11	1179	c.1128G>A	c.(1126-1128)gtG>gtA	p.V376V		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	376	Ig-like C2-type 3.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		GTGCCCAGGTGATGTGGTAAG	0.517000													69	80					0	0	0.00361006	0	0
EMG1	10436	broad.mit.edu	37	12	7080097	7080097	+	RNA	SNP	C	C	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr12:7080097C>T	ENST00000546220.1	+	0	42				U47924.28_ENST00000261406.6_lincRNA|U47924.19_ENST00000564245.1_RNA			Q92979	NEP1_HUMAN	EMG1 N1-specific pseudouridine methyltransferase						ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding										ATGGCCGCGCCCAGTGATGGA	0.552000													5	9					0	0	0.00198382	0	0
FXR2	9513	broad.mit.edu	37	17	7504810	7504810	+	Silent	SNP	G	G	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr17:7504810G>A	ENST00000250113.7	-	7	911	c.577C>T	c.(577-579)Ctg>Ttg	p.L193L		NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	193						cytosolic large ribosomal subunit	protein binding|RNA binding	p.?(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		TCACCCAGCAGAGATGCTCGC	0.493000													89	124					0	0	0.00361006	0	0
PI4KAP1	728233	broad.mit.edu	37	22	20386745	20386745	+	RNA	SNP	T	T	C			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr22:20386745T>C	ENST00000430523.3	-	0	1767					NR_003563.1																						TGGTCTGTTTTGAGGAGTGGA	0.577000													4	9					0	0	0.00307968	0	0
MAPKBP1	23005	broad.mit.edu	37	15	42111090	42111090	+	Silent	SNP	C	C	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr15:42111090C>T	ENST00000457542.2	+	20	2512	c.2226C>T	c.(2224-2226)cgC>cgT	p.R742R	MAPKBP1_ENST00000456763.2_Silent_p.R748R|MAPKBP1_ENST00000514566.1_Silent_p.R742R|MAPKBP1_ENST00000260357.7_Silent_p.R581R|MAPKBP1_ENST00000221214.6_Silent_p.R625R	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	748										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		CCGAGTTGCGCCAGCGTCAGC	0.597000													26	18					0	0	0.00395357	0	0
IGSF5	150084	broad.mit.edu	37	21	41163987	41163987	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr21:41163987G>A	ENST00000380588.4	+	7	1112	c.1009G>A	c.(1009-1011)Gaa>Aaa	p.E337K		NM_001080444.1	NP_001073913.1	Q9NSI5	IGSF5_HUMAN	immunoglobulin superfamily, member 5	337						integral to membrane|tight junction				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23		Prostate(19;5.35e-06)				AAGTGGAAATGAAAACTCCGG	0.398000													6	14					0	0	0.00307968	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24254953	24254953	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr8:24254953C>T	ENST00000538205.1	+	7	921	c.374C>T	c.(373-375)tCa>tTa	p.S125L	RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAMDEC1_ENST00000522298.1_Missense_Mutation_p.S125L|ADAMDEC1_ENST00000256412.4_Missense_Mutation_p.S204L	NM_001145271.1	NP_001138743.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	204					integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		ATCTCTAGATCACTCAAAAGC	0.423000													54	94					0	0	0.00361006	0	0
C17orf53	78995	broad.mit.edu	37	17	42225822	42225822	+	Silent	SNP	C	C	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr17:42225822C>T	ENST00000319977.4	+	3	888	c.651C>T	c.(649-651)atC>atT	p.I217I	C17orf53_ENST00000585683.1_Silent_p.I217I|C17orf53_ENST00000245382.6_Silent_p.I217I	NM_001171251.1|NM_024032.3	NP_001164722.1|NP_076937.2	Q8N3J3	CQ053_HUMAN	chromosome 17 open reading frame 53	217										NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		TGCCTGCCATCCACAAAGCGG	0.572000													53	17					0	0	0.00361006	0	0
CD163	9332	broad.mit.edu	37	12	7653916	7653916	+	Silent	SNP	C	C	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr12:7653916C>T	ENST00000359156.4	-	3	478	c.276G>A	c.(274-276)ctG>ctA	p.L92L	CD163_ENST00000541972.1_Silent_p.L80L|CD163_ENST00000396620.3_Silent_p.L92L|CD163_ENST00000432237.2_Silent_p.L92L	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	92	SRCR 1.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						TTGGACATCCCAGCTGGTTAC	0.512000													47	54					0	0	0.0025221	0	0
ZFAT	57623	broad.mit.edu	37	8	135649716	135649716	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr8:135649716C>A	ENST00000520727.1	-	4	699	c.400G>T	c.(400-402)Gaa>Taa	p.E134*	ZFAT_ENST00000523399.1_Nonsense_Mutation_p.E146*|ZFAT_ENST00000377838.3_Nonsense_Mutation_p.E146*|ZFAT_ENST00000520356.1_Nonsense_Mutation_p.E134*|ZFAT_ENST00000520214.1_Nonsense_Mutation_p.E134*|ZFAT_ENST00000429442.2_Nonsense_Mutation_p.E134*	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	146					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			GCTTCTCCTTCCTCCTCACCC	0.473000													67	76					1.37693e-34	4.86642e-34	0.00361006	1	0
OR10H5	284433	broad.mit.edu	37	19	15905601	15905601	+	Missense_Mutation	SNP	T	T	G			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr19:15905601T>G	ENST00000308940.8	+	1	841	c.743T>G	c.(742-744)gTg>gGg	p.V248G		NM_001004466.1	NP_001004466.1	Q8NGA6	O10H5_HUMAN	olfactory receptor, family 10, subfamily H, member 5	248					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1)	20						CACCTCACTGTGGTGGTCGTG	0.562000													15	35					0	0	0.00152264	0	0
DDX60	55601	broad.mit.edu	37	4	169172186	169172186	+	Silent	SNP	C	C	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr4:169172186C>T	ENST00000393743.3	-	28	4068	c.3777G>A	c.(3775-3777)agG>agA	p.R1259R		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	1259	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		ATCCAATACCCCTTTCTGCCA	0.338000													18	32					0	0	0.00188189	0	0
GSDMD	79792	broad.mit.edu	37	8	144641624	144641624	+	Missense_Mutation	SNP	T	T	G			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr8:144641624T>G	ENST00000526406.1	+	5	1002	c.119T>G	c.(118-120)gTg>gGg	p.V40G	GSDMD_ENST00000533063.1_Missense_Mutation_p.V88G|GSDMD_ENST00000262580.4_Missense_Mutation_p.V40G	NM_001166237.1	NP_001159709.1	P57764	GSDMD_HUMAN	gasdermin D	40										breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	12						TACTGCCTGGTGGTTAGGAAG	0.587000													6	76					0	0	0.00307968	0	0
MUC5AC	4586	broad.mit.edu	37	11	1159302	1159302	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr11:1159302G>A	ENST00000356191.2	+	16	1270	c.1270G>A	c.(1270-1272)Gag>Aag	p.E424K						mucin 5AC, oligomeric mucus/gel-forming											NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)		GAGCTGCCAGGAGGTTCCATG	0.642000													23	5					0	0	0.00188189	0	0
PLCZ1	89869	broad.mit.edu	37	12	18841104	18841104	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr12:18841104C>T	ENST00000266505.7	-	13	1773	c.1510G>A	c.(1510-1512)Ggt>Agt	p.G504S	PLCZ1_ENST00000541695.1_Missense_Mutation_p.G367S|PLCZ1_ENST00000539875.1_Missense_Mutation_p.G311S|PLCZ1_ENST00000435379.1_Missense_Mutation_p.G309S|PLCZ1_ENST00000538330.1_Missense_Mutation_p.G286S|PLCZ1_ENST00000534932.1_5'UTR|PLCZ1_ENST00000447925.2_Missense_Mutation_p.G502S			Q86YW0	PLCZ1_HUMAN	phospholipase C, zeta 1	504	C2.				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					AATGAATCACCTTTGTTAGAT	0.323000													62	83					0	0	0.00361006	0	0
RXRG	6258	broad.mit.edu	37	1	165370609	165370609	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr1:165370609G>A	ENST00000359842.5	-	10	1585	c.1283C>T	c.(1282-1284)tCc>tTc	p.S428F		NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	428	Ligand-binding (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)	CAAGCCAATGGAACGCAGAGC	0.602000													35	105					0	0	0.00428921	0	0
ENPP6	133121	broad.mit.edu	37	4	185038027	185038027	+	Silent	SNP	G	G	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr4:185038027G>A	ENST00000296741.2	-	5	978	c.837C>T	c.(835-837)gcC>gcT	p.A279A		NM_153343.3	NP_699174.1	Q6UWR7	ENPP6_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 6	279					lipid catabolic process	extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		GTTTCCCAGGGGCCGGCCAAA	0.557000													28	17					0	0	0.0024448	0	0
MYH4	4622	broad.mit.edu	37	17	10369624	10369624	+	Missense_Mutation	SNP	T	T	C			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr17:10369624T>C	ENST00000255381.2	-	4	424	c.314A>G	c.(313-315)aAc>aGc	p.N105S	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	105	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CTCTTTGAGGTTATACAGCAC	0.453000													32	65					0	0	0.00428921	0	0
WDR25	79446	broad.mit.edu	37	14	100992261	100992261	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr14:100992261C>T	ENST00000335290.6	+	5	1382	c.1156C>T	c.(1156-1158)Cgg>Tgg	p.R386W	WDR25_ENST00000554998.1_Missense_Mutation_p.R386W|WDR25_ENST00000542471.2_Missense_Mutation_p.R129W|WDR25_ENST00000402312.3_Missense_Mutation_p.R386W|WDR25_ENST00000557502.1_3'UTR	NM_024515.4	NP_078791.3	Q64LD2	WDR25_HUMAN	WD repeat domain 25	386										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1)	20		Melanoma(154;0.212)				CCTGTTCCTCCGGGAAGGCTC	0.597000													14	26					0	0	0.00244969	0	0
EMG1	10436	broad.mit.edu	37	12	7080098	7080098	+	RNA	SNP	C	C	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr12:7080098C>T	ENST00000546220.1	+	0	43				U47924.28_ENST00000261406.6_lincRNA|U47924.19_ENST00000564245.1_RNA			Q92979	NEP1_HUMAN	EMG1 N1-specific pseudouridine methyltransferase						ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding										TGGCCGCGCCCAGTGATGGAT	0.552000													5	9					0	0	0.00198382	0	0
SLC9A6	10479	broad.mit.edu	37	X	135126865	135126865	+	Silent	SNP	G	G	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chrX:135126865G>A	ENST00000370695.4	+	16	2123	c.2088G>A	c.(2086-2088)acG>acA	p.T696T	SLC9A6_ENST00000370698.3_Silent_p.T664T|SLC9A6_ENST00000370701.1_Silent_p.T644T	NM_001042537.1	NP_001036002.1	Q92581	SL9A6_HUMAN	solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6	664					regulation of pH	early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane	sodium:hydrogen antiporter activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					TAGATAATACGAGACATGGTC	0.423000													35	7					0	0	0.00128727	0	0
SLC8A3	6547	broad.mit.edu	37	14	70633399	70633399	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr14:70633399C>T	ENST00000381269.2	-	2	2494	c.1741G>A	c.(1741-1743)Gaa>Aaa	p.E581K	SLC8A3_ENST00000356921.2_Missense_Mutation_p.E581K|SLC8A3_ENST00000534137.1_Missense_Mutation_p.E581K|SLC8A3_ENST00000528359.1_Missense_Mutation_p.E581K|SLC8A3_ENST00000357887.3_Missense_Mutation_p.E581K	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	581	Calx-beta 2.				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		TATGTGTCTTCAAAGTCCTCA	0.507000													34	53					0	0	0.00128727	0	0
GABRB1	2560	broad.mit.edu	37	4	47322179	47322179	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr4:47322179G>A	ENST00000295454.3	+	5	789	c.497G>A	c.(496-498)cGa>cAa	p.R166Q	GABRB1_ENST00000538619.1_Missense_Mutation_p.R96Q	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	166					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	ATGGATCTTCGAAGATATCCA	0.418000													30	35					0	0	0.00428921	0	0
CCDC88C	440193	broad.mit.edu	37	14	91779804	91779804	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr14:91779804C>T	ENST00000389857.6	-	15	2442	c.2356G>A	c.(2356-2358)Gag>Aag	p.E786K		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	786					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				AGCTCACTCTCCAAGGTCTGC	0.672000													12	18					0	0	0.00244969	0	0
ANKRD30B	374860	broad.mit.edu	37	18	14851592	14851592	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr18:14851592G>A	ENST00000358984.4	+	36	3472	c.3292G>A	c.(3292-3294)Gta>Ata	p.V1098I		NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	1183										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						AAAACTGGAAGTAGCCACACT	0.323000													15	23					0	0	0.00400662	0	0
ECHS1	1892	broad.mit.edu	37	10	135184099	135184099	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr10:135184099G>A	ENST00000368547.3	-	2	606	c.251C>T	c.(250-252)gCc>gTc	p.A84V		NM_004092.3	NP_004083.3	P30084	ECHM_HUMAN	enoyl CoA hydratase, short chain, 1, mitochondrial	84				A -> G (in Ref. 1; BAA03001).	fatty acid beta-oxidation	mitochondrial matrix	enoyl-CoA hydratase activity|protein binding			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)	10		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;1.62e-06)|OV - Ovarian serous cystadenocarcinoma(35;5.75e-06)|Epithelial(32;7.58e-06)		GAGGACAATGGCCCCCACGGC	0.627000													9	2					0	0	0.000274275	0	0
ZC3H7B	23264	broad.mit.edu	37	22	41735068	41735068	+	Missense_Mutation	SNP	T	T	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr22:41735068T>A	ENST00000352645.4	+	9	946	c.689T>A	c.(688-690)tTc>tAc	p.F230Y	ZC3H7B_ENST00000351589.4_Missense_Mutation_p.F230Y	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	246					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						ATGCCCCTGTTCCCTCACGTT	0.662000													59	77					0	0	0.00361006	0	0
KCNT2	343450	broad.mit.edu	37	1	196459048	196459048	+	Silent	SNP	G	G	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr1:196459048G>A	ENST00000367433.5	-	3	296	c.195C>T	c.(193-195)ttC>ttT	p.F65F	KCNT2_ENST00000294725.8_Silent_p.F65F|KCNT2_ENST00000451324.2_5'UTR|KCNT2_ENST00000367431.4_Silent_p.F65F			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	65						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						GAGAAAAATTGAACAGGCGTA	0.303000													117	76					0	0	0.00361006	0	0
INSRR	3645	broad.mit.edu	37	1	156814367	156814367	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr1:156814367C>T	ENST00000368195.3	-	14	3020	c.2624G>A	c.(2623-2625)gGa>gAa	p.G875E	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	875	Fibronectin type-III 3.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CAGGTGGACTCCCCCAAACTT	0.577000													12	30					0	0	0.000978159	0	0
PRKCG	5582	broad.mit.edu	37	19	54406370	54406370	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr19:54406370C>T	ENST00000263431.3	+	15	1901	c.1619C>T	c.(1618-1620)tCc>tTc	p.S540F	PRKCG_ENST00000542049.1_Missense_Mutation_p.S427F|PRKCG_ENST00000540413.1_Missense_Mutation_p.S540F	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	540	Protein kinase.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		GATTGGTGGTCCTTTGGAGTT	0.537000													110	184					0	0	0.00361006	0	0
OR6B2	389090	broad.mit.edu	37	2	240969565	240969565	+	Silent	SNP	G	G	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr2:240969565G>A	ENST00000402971.2	-	1	341	c.282C>T	c.(280-282)ttC>ttT	p.F94F		NM_001005853.1	NP_001005853.1	Q6IFH4	OR6B2_HUMAN	olfactory receptor, family 6, subfamily B, member 2	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)	15		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)		TGCACCCGACGAAAGAGATGC	0.572000													20	66					0	0	0.00188189	0	0
RNF165	494470	broad.mit.edu	37	18	44013470	44013470	+	Splice_Site	SNP	T	T	G			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr18:44013470T>G	ENST00000269439.7	+	2	428		c.e2+2		RNF165_ENST00000543885.1_Intron	NM_152470.2	NP_689683.2	Q6ZSG1	RN165_HUMAN	ring finger protein 165								zinc ion binding			NS(1)|large_intestine(4)|lung(6)	11				READ - Rectum adenocarcinoma(1;0.0873)		GCACCCCAGGTTGGTGCTGCC	0.716000													15	19					0	0	0.000566183	0	0
KLK11	11012	broad.mit.edu	37	19	51528042	51528042	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr19:51528042C>T	ENST00000594768.1	-	3	330	c.145G>A	c.(145-147)Ggg>Agg	p.G49R	KLK11_ENST00000453757.3_Missense_Mutation_p.G17R|KLK11_ENST00000391804.3_Missense_Mutation_p.G17R|KLK11_ENST00000600362.1_Intron|KLK11_ENST00000594458.1_5'UTR|KLK11_ENST00000319720.7_Missense_Mutation_p.G17R	NM_144947.1	NP_659196.1	Q9UBX7	KLK11_HUMAN	kallikrein-related peptidase 11	49			G -> E (in dbSNP:rs3745539).		proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|GBM - Glioblastoma multiforme(134;0.00878)		GTCTCTCCCCCTACAAGCCCT	0.612000													7	9					0	0	0.00307968	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54913106	54913106	+	Missense_Mutation	SNP	T	T	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr3:54913106T>A	ENST00000474759.1	+	19	1820	c.1772T>A	c.(1771-1773)gTg>gAg	p.V591E	CACNA2D3_ENST00000288197.5_Missense_Mutation_p.V591E|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.V497E|CACNA2D3-AS1_ENST00000471265.1_RNA|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.V591E	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	591						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		AAGAAGACAGTGGACAAAGGG	0.348000													21	17					0	0	0.00152264	0	0
SLC26A9	115019	broad.mit.edu	37	1	205886433	205886433	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr1:205886433C>T	ENST00000367135.3	-	20	2419	c.2306G>A	c.(2305-2307)cGc>cAc	p.R769H	SLC26A9_ENST00000340781.4_Missense_Mutation_p.R769H|SLC26A9_ENST00000367134.2_Missense_Mutation_p.R769H	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	769						integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			CCAGTAGCTGCGAATGTCCTC	0.577000													86	259					0	0	0.00361006	0	0
SOX10	6663	broad.mit.edu	37	22	38369715	38369715	+	Silent	SNP	G	G	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr22:38369715G>A	ENST00000396884.2	-	4	1470	c.1188C>T	c.(1186-1188)tcC>tcT	p.S396S	SOX10_ENST00000360880.2_Silent_p.S396S|POLR2F_ENST00000407936.1_Intron|POLR2F_ENST00000405557.1_Intron	NM_006941.3	NP_008872.1	P56693	SOX10_HUMAN	SRY (sex determining region Y)-box 10	396						cytoplasm|nucleus	DNA binding|identical protein binding|transcription coactivator activity			NS(6)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|skin(2)	20	Melanoma(58;0.045)					ACTGGGGGCGGGAGATGGAGG	0.632000													32	28					0	0	0.00178596	0	0
CNTN1	1272	broad.mit.edu	37	12	41327666	41327666	+	Missense_Mutation	SNP	G	G	A	rs148624625		TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr12:41327666G>A	ENST00000551295.2	+	9	1088	c.971G>A	c.(970-972)aGa>aAa	p.R324K	CNTN1_ENST00000547849.1_Missense_Mutation_p.R324K|CNTN1_ENST00000347616.1_Missense_Mutation_p.R324K|CNTN1_ENST00000360099.3_Missense_Mutation_p.R324K|CNTN1_ENST00000348761.2_Missense_Mutation_p.R313K|CNTN1_ENST00000547702.1_Missense_Mutation_p.R324K	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	324	Ig-like C2-type 3.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane		p.R324I(1)|p.R324K(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				CATCAAGCAAGAATTTATGTT	0.308000													22	22					0	0	0.00152264	0	0
ENTPD3	956	broad.mit.edu	37	3	40456284	40456284	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr3:40456284G>A	ENST00000301825.3	+	6	668	c.550G>A	c.(550-552)Gta>Ata	p.V184I	ENTPD3-AS1_ENST00000425156.1_RNA|ENTPD3_ENST00000445129.1_Missense_Mutation_p.V184I|ENTPD3-AS1_ENST00000439293.1_RNA|ENTPD3-AS1_ENST00000452768.1_RNA|ENTPD3_ENST00000456402.1_Missense_Mutation_p.V184I	NM_001248.2	NP_001239.2	O75355	ENTP3_HUMAN	ectonucleoside triphosphate diphosphohydrolase 3	184						integral to membrane	ATP binding|hydrolase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758)		AGAAGAAGGGGTATATGGATG	0.418000													84	123					0	0	0.00361006	0	0
MUC5B	727897	broad.mit.edu	37	11	1262615	1262615	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr11:1262615C>T	ENST00000447027.1	+	31	4572	c.4514C>T	c.(4513-4515)aCc>aTc	p.T1505I	MUC5B_ENST00000529681.1_Missense_Mutation_p.T1502I			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1502	7 X Cys-rich subdomain repeats.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GGTACCACCACCTGCCAGCCC	0.642000													10	3					0	0	0.000673444	0	0
PEX11B	8799	broad.mit.edu	37	1	145518235	145518235	+	Missense_Mutation	SNP	C	C	A	rs150236235		TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr1:145518235C>A	ENST00000369306.3	+	3	486	c.337C>A	c.(337-339)Cgt>Agt	p.R113S	PEX11B_ENST00000537888.1_Missense_Mutation_p.R99S	NM_003846.2	NP_003837.1	O96011	PX11B_HUMAN	peroxisomal biogenesis factor 11 beta	113					peroxisome fission|signal transduction	integral to peroxisomal membrane	protein binding			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ACTGGCTCCCCGTGTGGATCA	0.468000													5	240					0.00116845	0.0040061	0.00116845	1	0
APOB	338	broad.mit.edu	37	2	21236046	21236046	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr2:21236046G>A	ENST00000233242.1	-	25	4329	c.4202C>T	c.(4201-4203)tCc>tTc	p.S1401F		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1401					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CACATTGTAGGAAAGCAGGTC	0.547000													179	263					0	0	0.00361006	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													5	33					0	0	0.000602214	0	0
MUC16	94025	broad.mit.edu	37	19	9069895	9069895	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr19:9069895G>A	ENST00000397910.4	-	3	17754	c.17551C>T	c.(17551-17553)Cct>Tct	p.P5851S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5853	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTTACAAAAGGAAAAGTGGAG	0.478000													69	97					0	0	0.00361006	0	0
METTL7B	196410	broad.mit.edu	37	12	56077633	56077633	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr12:56077633C>T	ENST00000394252.3	+	2	744	c.535C>T	c.(535-537)Cca>Tca	p.P179S		NM_152637.2	NP_689850.2	Q6UX53	MET7B_HUMAN	methyltransferase like 7B	179							methyltransferase activity			kidney(1)|large_intestine(1)|lung(4)	6						TGTGGCAGAACCATATGGAAG	0.552000													32	52					0	0	0.0024448	0	0
SENP7	57337	broad.mit.edu	37	3	101044894	101044894	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr3:101044894G>A	ENST00000394095.2	-	24	3099	c.3046C>T	c.(3046-3048)Cat>Tat	p.H1016Y	SENP7_ENST00000394085.3_Missense_Mutation_p.H204Y|SENP7_ENST00000394091.1_Missense_Mutation_p.H852Y|SENP7_ENST00000358203.3_Missense_Mutation_p.H852Y|SENP7_ENST00000394094.2_Missense_Mutation_p.H951Y|SENP7_ENST00000348610.3_Missense_Mutation_p.H983Y|SENP7_ENST00000314261.7_Missense_Mutation_p.H950Y	NM_020654.3	NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	1016	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						TTCTCCAAATGAATTGGAAGT	0.343000													16	31					0	0	0.00400662	0	0
NCOR1	9611	broad.mit.edu	37	17	16089914	16089914	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr17:16089914G>A	ENST00000268712.3	-	3	453	c.196C>T	c.(196-198)Cga>Tga	p.R66*	NCOR1_ENST00000395851.1_Nonsense_Mutation_p.R66*|NCOR1_ENST00000395848.1_Intron	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	66	Interaction with ZBTB33 and HEXIM1.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	p.R66R(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GGTCGCCTTCGAAGCTGTTGC	0.413000													35	42					0	0	0.00375469	0	0
TRPM6	140803	broad.mit.edu	37	9	77377706	77377706	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr9:77377706C>T	ENST00000451710.3	-	26	4118	c.3881G>A	c.(3880-3882)aGa>aAa	p.R1294K	TRPM6_ENST00000449912.2_Missense_Mutation_p.R1289K|TRPM6_ENST00000376864.4_Missense_Mutation_p.R1294K|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000360774.1_Missense_Mutation_p.R1294K|TRPM6_ENST00000361255.3_Missense_Mutation_p.R1289K			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1294					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CCTCTGCACTCTTGGGGGATG	0.478000													86	31					0	0	0.00361006	0	0
ABL1	25	broad.mit.edu	37	9	133738217	133738217	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr9:133738217C>T	ENST00000318560.5	+	4	998	c.617C>T	c.(616-618)gCc>gTc	p.A206V		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	c-abl oncogene 1, non-receptor tyrosine kinase	206	SH2.				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	TCAACGGTGGCCGACGGGCTC	0.572000			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""								23	11					0	0	0.000878237	0	0
NDUFA13	51079	broad.mit.edu	37	19	19638826	19638826	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr19:19638826C>T	ENST00000507754.3	+	5	827	c.326C>T	c.(325-327)tCt>tTt	p.S109F	CTC-260F20.3_ENST00000555938.1_Intron|CTC-260F20.3_ENST00000586674.1_3'UTR|NDUFA13_ENST00000503283.1_Intron|NDUFA13_ENST00000252576.5_Missense_Mutation_p.S192F|NDUFA13_ENST00000428459.2_3'UTR					NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	12						GTGGGGGAGTCTGTGTTCCAC	0.642000													17	16					0	0	0.00074312	0	0
APBA2	321	broad.mit.edu	37	15	29347005	29347005	+	Silent	SNP	C	C	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr15:29347005C>T	ENST00000558402.1	+	5	1517	c.918C>T	c.(916-918)acC>acT	p.T306T	APBA2_ENST00000561069.1_Silent_p.T306T|APBA2_ENST00000558330.1_Silent_p.T306T|APBA2_ENST00000411764.1_Silent_p.T306T|APBA2_ENST00000558259.1_Silent_p.T306T			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	306					nervous system development|protein transport		protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		AGACCAGGACCCCAGAAGAGA	0.672000													4	17					0	0	0.000602214	0	0
SPATA8	145946	broad.mit.edu	37	15	97327454	97327454	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr15:97327454G>A	ENST00000328504.3	+	2	428	c.161G>A	c.(160-162)gGa>gAa	p.G54E	SPATA8_ENST00000558553.1_Silent_p.R13R	NM_173499.3	NP_775770.1	Q6RVD6	SPAT8_HUMAN	spermatogenesis associated 8	54										large_intestine(4)|lung(8)|ovary(1)|skin(3)	16	Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468)		OV - Ovarian serous cystadenocarcinoma(32;0.0718)			GGTGGCCCAGGAGGCCTCAAG	0.577000													21	50					0	0	0.00332997	0	0
PRRT1	80863	broad.mit.edu	37	6	32118198	32118198	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr6:32118198G>A	ENST00000211413.5	-	2	629	c.505C>T	c.(505-507)Ccc>Tcc	p.P169S	PRRT1_ENST00000375150.2_Missense_Mutation_p.P88S|PRRT1_ENST00000375152.2_Missense_Mutation_p.P88S	NM_030651.3	NP_085154.3	Q99946	PRRT1_HUMAN	proline-rich transmembrane protein 1	169					response to biotic stimulus	integral to membrane				breast(2)|endometrium(1)|kidney(1)|lung(2)	6						AGCTGCAGGGGGTATCCGGGC	0.706000													11	20					0	0	0.00244969	0	0
HMCN1	83872	broad.mit.edu	37	1	185958751	185958751	+	Silent	SNP	C	C	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr1:185958751C>T	ENST00000271588.4	+	21	3409	c.3180C>T	c.(3178-3180)gcC>gcT	p.A1060A	HMCN1_ENST00000367492.2_Silent_p.A1060A|HMCN1_ENST00000485744.1_3'UTR	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1060	Ig-like C2-type 7.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CCGGCTACGCCAAAAGGAAAG	0.483000													51	23					0	0	0.00361006	0	0
PIK3CA	5290	broad.mit.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	T	rs121913279		TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr3:178952085A>T	ENST00000263967.3	+	21	3297	c.3140A>T	c.(3139-3141)cAt>cTt	p.H1047L		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K.		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AATGATGCACATCATGGTGGC	0.378000	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			26	33					0	0	0.000720815	0	0
TMEM175	84286	broad.mit.edu	37	4	952010	952010	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr4:952010G>A	ENST00000264771.4	+	11	1426	c.1241G>A	c.(1240-1242)cGg>cAg	p.R414Q	TMEM175_ENST00000508204.1_Missense_Mutation_p.R332Q|TMEM175_ENST00000515740.1_Missense_Mutation_p.R298Q	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	transmembrane protein 175	414						integral to membrane				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			TTTGGCGGCCGGGAGCATGTG	0.652000													9	19					0	0	0.000442599	0	0
GOLGB1	2804	broad.mit.edu	37	3	121416835	121416835	+	Silent	SNP	C	C	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr3:121416835C>T	ENST00000393667.3	-	13	2645	c.2535G>A	c.(2533-2535)ctG>ctA	p.L845L	GOLGB1_ENST00000340645.5_Silent_p.L840L	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	840					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		CCTTATTTTGCAGCTGGCTTT	0.433000													64	83					0	0	0.00361006	0	0
KIF16B	55614	broad.mit.edu	37	20	16359843	16359843	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr20:16359843G>A	ENST00000354981.2	-	19	2961	c.2804C>T	c.(2803-2805)cCt>cTt	p.P935L	KIF16B_ENST00000378003.2_Missense_Mutation_p.P161L|KIF16B_ENST00000408042.1_Missense_Mutation_p.P935L|KIF16B_ENST00000355755.3_Missense_Mutation_p.P935L	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	935	Glu-rich.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						TAAGCTGAGAGGGCCTCTGTC	0.433000													39	55					0	0	0.00111076	0	0
CHD6	84181	broad.mit.edu	37	20	40161876	40161876	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr20:40161876C>T	ENST00000373233.3	-	3	544	c.367G>A	c.(367-369)Gaa>Aaa	p.E123K	CHD6_ENST00000373222.3_Missense_Mutation_p.E158K|CHD6_ENST00000309279.7_Missense_Mutation_p.E123K	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	123	Lys-rich.				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TCTTTCGGTTCTCGTTTCCTC	0.527000													130	218					0	0	0.00361006	0	0
BMP5	653	broad.mit.edu	37	6	55638912	55638912	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr6:55638912C>T	ENST00000370830.3	-	4	1660	c.962G>A	c.(961-963)cGa>cAa	p.R321Q	BMP5_ENST00000446683.2_Missense_Mutation_p.R321Q	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	321					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	p.R321Q(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			TTGATTTTTTCGTTTGTTGGC	0.478000													55	63					0	0	0.00361006	0	0
RXRG	6258	broad.mit.edu	37	1	165370608	165370608	+	Silent	SNP	G	G	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr1:165370608G>A	ENST00000359842.5	-	10	1586	c.1284C>T	c.(1282-1284)tcC>tcT	p.S428S		NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	428	Ligand-binding (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)	TCAAGCCAATGGAACGCAGAG	0.597000													35	104					0	0	0.00428921	0	0
NUGGC	389643	broad.mit.edu	37	8	27927077	27927077	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr8:27927077C>T	ENST00000413272.2	-	4	383	c.241G>A	c.(241-243)Gga>Aga	p.G81R	NUGGC_ENST00000341513.6_Missense_Mutation_p.G81R	NM_001010906.1	NP_001010906.1			nuclear GTPase, germinal center associated									p.G81R(4)									TACTTGACTCCATTAGGGATG	0.413000													39	57					0	0	0.00128727	0	0
CCDC88C	440193	broad.mit.edu	37	14	91779805	91779805	+	Silent	SNP	C	C	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr14:91779805C>T	ENST00000389857.6	-	15	2441	c.2355G>A	c.(2353-2355)ttG>ttA	p.L785L		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	785					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				GCTCACTCTCCAAGGTCTGCG	0.672000													13	18					0	0	0.00316338	0	0
PNPLA5	150379	broad.mit.edu	37	22	44280202	44280202	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr22:44280202C>T	ENST00000216177.4	-	7	1105	c.973G>A	c.(973-975)Gat>Aat	p.D325N	PNPLA5_ENST00000597664.1_Missense_Mutation_p.D325N|PNPLA5_ENST00000593866.1_Missense_Mutation_p.D211N|PNPLA5_ENST00000381198.2_Missense_Mutation_p.D211N	NM_138814.3	NP_620169.1	Q7Z6Z6	PLPL5_HUMAN	patatin-like phospholipase domain containing 5	325					lipid catabolic process		hydrolase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	16		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				CGGCTGGGATCCCTCGTACAT	0.617000											OREG0026622	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	26	55					0	0	0.001512	0	0
ERC2	26059	broad.mit.edu	37	3	56044578	56044578	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr3:56044578C>T	ENST00000288221.6	-	9	2074	c.1819G>A	c.(1819-1821)Gat>Aat	p.D607N		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	607						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TCCCGATCATCTCTTTCTCGC	0.403000													56	97					0	0	0.00361006	0	0
MUC16	94025	broad.mit.edu	37	19	9063923	9063923	+	Silent	SNP	C	C	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr19:9063923C>T	ENST00000397910.4	-	3	23726	c.23523G>A	c.(23521-23523)ggG>ggA	p.G7841G		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7843	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTGAGCTGGTCCCTTCAGAGC	0.557000													29	32					0	0	0.00127121	0	0
NDST3	9348	broad.mit.edu	37	4	118975766	118975766	+	Missense_Mutation	SNP	T	T	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr4:118975766T>A	ENST00000296499.5	+	2	1104	c.701T>A	c.(700-702)aTa>aAa	p.I234K	NDST3_ENST00000433996.2_Missense_Mutation_p.I234K	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	234	Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						CAACCAGTAATATTTGCCAAA	0.388000													68	62					0	0	0.00361006	0	0
PPL	5493	broad.mit.edu	37	16	4934734	4934734	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr16:4934734C>T	ENST00000345988.2	-	22	4011	c.3922G>A	c.(3922-3924)Gtg>Atg	p.V1308M	PPL_ENST00000590782.2_Missense_Mutation_p.V1306M	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN	periplakin	1308					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						AGAGACGCCACCTCCTCCTTG	0.547000													96	136					0	0	0.00361006	0	0
SYCP1	6847	broad.mit.edu	37	1	115537573	115537573	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr1:115537573G>A	ENST00000369522.3	+	32	3104	c.2864G>A	c.(2863-2865)cGt>cAt	p.R955H	SYCP1_ENST00000477590.1_3'UTR|SYCP1_ENST00000369518.1_Missense_Mutation_p.R955H	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	955					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CGGGAGGACCGTTGGGCTGTA	0.343000													45	62					0	0	0.00321405	0	0
AIPL1	23746	broad.mit.edu	37	17	6337259	6337259	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr17:6337259C>T	ENST00000381129.3	-	2	336	c.256G>A	c.(256-258)Gag>Aag	p.E86K	AIPL1_ENST00000576307.1_Intron|AIPL1_ENST00000575265.1_Missense_Mutation_p.E86K|AIPL1_ENST00000576776.1_Missense_Mutation_p.E86K|AIPL1_ENST00000574506.1_Missense_Mutation_p.E74K|AIPL1_ENST00000571740.1_Missense_Mutation_p.E86K|AIPL1_ENST00000570466.1_Missense_Mutation_p.E64K|AIPL1_ENST00000250087.5_Missense_Mutation_p.E86K	NM_001033055.1|NM_014336.3	NP_001028227.1|NP_055151.3	Q9NZN9	AIPL1_HUMAN	aryl hydrocarbon receptor interacting protein-like 1	86	PPIase FKBP-type.				protein farnesylation|protein folding|visual perception	cytoplasm|nucleus	farnesylated protein binding|unfolded protein binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	12				COAD - Colon adenocarcinoma(228;0.141)		CACCAGAACTCGGCCACCTCG	0.602000													8	14					0	0	0.00307968	0	0
PPL	5493	broad.mit.edu	37	16	4934735	4934735	+	Silent	SNP	C	C	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr16:4934735C>T	ENST00000345988.2	-	22	4010	c.3921G>A	c.(3919-3921)gaG>gaA	p.E1307E	PPL_ENST00000590782.2_Silent_p.E1305E	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN	periplakin	1307					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						GAGACGCCACCTCCTCCTTGG	0.547000													95	138					0	0	0.00361006	0	0
OR6B1	135946	broad.mit.edu	37	7	143701816	143701816	+	Missense_Mutation	SNP	C	C	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr7:143701816C>A	ENST00000408922.2	+	1	795	c.727C>A	c.(727-729)Ctt>Att	p.L243I		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	243					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					TGCCTCCCATCTTGTGGTGGT	0.438000													58	192					3.76628e-20	1.32204e-19	0.00361006	1	0
SYT15	83849	broad.mit.edu	37	10	46963872	46963872	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr10:46963872C>T	ENST00000374323.3	-	6	1837	c.1250G>A	c.(1249-1251)aGc>aAc	p.S417N	SYT15_ENST00000503753.1_Missense_Mutation_p.S364N|SYT15_ENST00000374325.3_Missense_Mutation_p.S364N|RP11-38L15.3_ENST00000506914.1_RNA|SYT15_ENST00000374321.4_Missense_Mutation_p.S364N			Q9BQS2	SYT15_HUMAN	synaptotagmin XV	364						integral to membrane|plasma membrane				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						CACAGTCAGGCTGAGGCTAGC	0.592000													17	34					0	0	0.000958276	0	0
KRT4	3851	broad.mit.edu	37	12	53207673	53207673	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr12:53207673C>T	ENST00000551956.1	-	1	662	c.170G>A	c.(169-171)gGg>gAg	p.G57E	KRT4_ENST00000293774.4_Missense_Mutation_p.G131E|KRT4_ENST00000458244.2_Intron			B4DRS2	B4DRS2_HUMAN	keratin 4	57						keratin filament	structural molecule activity			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						GCTTTTGTTCCCCCTGAGGTT	0.582000													60	75					0	0	0.00361006	0	0
FLG	2312	broad.mit.edu	37	1	152279860	152279860	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr1:152279860G>A	ENST00000368799.1	-	3	7537	c.7502C>T	c.(7501-7503)tCt>tTt	p.S2501F	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2501	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGAGGCATCAGACCTTCCCTG	0.552000									Ichthyosis				309	213					0	0	0.00361006	0	0
HHIPL1	84439	broad.mit.edu	37	14	100118833	100118833	+	Silent	SNP	C	C	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr14:100118833C>A	ENST00000330710.5	+	2	626	c.528C>A	c.(526-528)gcC>gcA	p.A176A	HHIPL1_ENST00000357223.2_Silent_p.A176A	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN	HHIP-like 1	176					carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				ACGTGGTAGCCGATGCCAAGG	0.627000													4	90					0.00116845	0.0040061	0.00116845	1	0
ZFHX3	463	broad.mit.edu	37	16	72831236	72831236	+	Missense_Mutation	SNP	A	A	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr16:72831236A>T	ENST00000268489.5	-	9	6017	c.5345T>A	c.(5344-5346)aTg>aAg	p.M1782K	ZFHX3_ENST00000397992.5_Missense_Mutation_p.M868K	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1782					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CTCAGTTGTCATGGGGAAGTG	0.567000													46	17					0	0	0.00321405	0	0
AP4E1	23431	broad.mit.edu	37	15	51291285	51291285	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr15:51291285G>A	ENST00000261842.5	+	19	3027	c.2921G>A	c.(2920-2922)gGa>gAa	p.G974E	AP4E1_ENST00000561397.1_Intron|AP4E1_ENST00000560508.1_Missense_Mutation_p.G899E	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	974					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		GAGCAACCTGGATGCTGTTTG	0.348000													27	45					0	0	0.00375469	0	0
GOLGA4	2803	broad.mit.edu	37	3	37340796	37340796	+	Silent	SNP	G	G	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr3:37340796G>A	ENST00000361924.2	+	9	1394	c.1020G>A	c.(1018-1020)gaG>gaA	p.E340E	GOLGA4_ENST00000356847.4_Silent_p.E362E|GOLGA4_ENST00000435830.2_3'UTR|GOLGA4_ENST00000444882.1_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	340	Glu-rich.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						ATATGGCCGAGAAGACTAAAC	0.289000													18	20					0	0	0.00074312	0	0
CDH22	64405	broad.mit.edu	37	20	44869687	44869687	+	Silent	SNP	G	G	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr20:44869687G>A	ENST00000372262.3	-	2	865	c.465C>T	c.(463-465)atC>atT	p.I155I	CDH22_ENST00000537909.1_Silent_p.I155I	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	155	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				GCACCTTGATGATGAACTCCG	0.642000													30	45					0	0	0.00283554	0	0
NXF5	55998	broad.mit.edu	37	X	101096531	101096531	+	Splice_Site	SNP	C	C	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chrX:101096531C>T	ENST00000537026.1	-	6	600		c.e6-1		NXF5_ENST00000473265.2_Splice_Site|NXF5_ENST00000361708.2_Splice_Site	NM_032946.2	NP_116564.2	Q9H1B4	NXF5_HUMAN	nuclear RNA export factor 5						mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nucleus	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						ATATACATATCTGCAGGAAGG	0.473000													47	18					0	0	0.00361006	0	0
CFHR2	3080	broad.mit.edu	37	1	196928190	196928190	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr1:196928190C>T	ENST00000367415.4	+	5	907	c.793C>T	c.(793-795)Ccc>Tcc	p.P265S	CFHR2_ENST00000367421.3_Missense_Mutation_p.P265S	NM_005666.2	NP_005657.1	P36980	FHR2_HUMAN	complement factor H-related 2	265	Sushi 4.					extracellular region				large_intestine(2)|ovary(1)|skin(3)	6						ACTGGTATATCCCAGTTGTGA	0.299000													65	47					0	0	0.00361006	0	0
SLC1A3	6507	broad.mit.edu	37	5	36679745	36679745	+	Missense_Mutation	SNP	A	A	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr5:36679745A>T	ENST00000265113.4	+	7	1353	c.877A>T	c.(877-879)Att>Ttt	p.I293F	CTD-2353F22.1_ENST00000510740.1_RNA|SLC1A3_ENST00000381918.3_Missense_Mutation_p.I293F	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	293					D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		L-Glutamic Acid(DB00142)	CCCCGTGGGTATTCTCTTCCT	0.507000													79	94					0	0	0.00361006	0	0
NDN	4692	broad.mit.edu	37	15	23931501	23931501	+	Silent	SNP	C	C	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr15:23931501C>T	ENST00000331837.4	-	1	949	c.864G>A	c.(862-864)caG>caA	p.Q288Q		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	288	MAGE.				negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		AGGGCCAGGCCTGGGGGTCTT	0.597000									Prader-Willi syndrome				33	43					0	0	0.0024448	0	0
PTPN1	5770	broad.mit.edu	37	20	49195139	49195139	+	Silent	SNP	C	C	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr20:49195139C>T	ENST00000371621.3	+	6	849	c.675C>T	c.(673-675)ttC>ttT	p.F225F	PTPN1_ENST00000541713.1_Silent_p.F152F	NM_001278618.1|NM_002827.2	NP_001265547.1|NP_002818.1	P18031	PTN1_HUMAN	protein tyrosine phosphatase, non-receptor type 1	225	Tyrosine-protein phosphatase.				blood coagulation|interferon-gamma-mediated signaling pathway|negative regulation of insulin receptor signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol|endoplasmic reticulum membrane	protein tyrosine phosphatase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(2)	16		Lung NSC(126;0.163)			Clodronate(DB00720)|Tiludronate(DB01133)	CTGGAACCTTCTGTCTGGCTG	0.572000													21	31					0	0	0.00152264	0	0
ETV3L	440695	broad.mit.edu	37	1	157067746	157067746	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr1:157067746A>G	ENST00000454449.2	-	4	805	c.521T>C	c.(520-522)aTg>aCg	p.M174T		NM_001004341.2	NP_001004341.1	Q6ZN32	ETV3L_HUMAN	ets variant 3-like	174						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Hepatocellular(266;0.158)	Prostate(1639;0.184)				CTGCTCCACCATGGCCTGATG	0.592000													23	56					0	0	0.00229938	0	0
PCDH1	5097	broad.mit.edu	37	5	141248874	141248874	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr5:141248874C>T	ENST00000287008.3	-	2	310	c.163G>A	c.(163-165)Ggc>Agc	p.G55S	PCDH1_ENST00000503492.1_Missense_Mutation_p.G55S|PCDH1_ENST00000394536.3_Missense_Mutation_p.G55S|PCDH1_ENST00000456271.1_Missense_Mutation_p.G55S|PCDH1_ENST00000536585.1_Missense_Mutation_p.G33S	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	protocadherin 1	55					cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		GTGGCGTGGCCTGGGGATGGA	0.642000													8	1					0	0	0.000274275	0	0
SIGLEC11	114132	broad.mit.edu	37	19	50462665	50462665	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr19:50462665C>T	ENST00000447370.2	-	5	1099	c.1009G>A	c.(1009-1011)Gag>Aag	p.E337K	SIGLEC11_ENST00000426971.2_Missense_Mutation_p.E337K	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	337	Ig-like C2-type 2.				cell adhesion	integral to membrane	sugar binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		AGCCTGTTCTCCGCTCGGCAG	0.662000													44	45					0	0	0.00361006	0	0
MON2	23041	broad.mit.edu	37	12	62960164	62960164	+	Missense_Mutation	SNP	T	T	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr12:62960164T>A	ENST00000393630.3	+	30	4651	c.4260T>A	c.(4258-4260)gaT>gaA	p.D1420E	MON2_ENST00000393629.2_Missense_Mutation_p.D1413E|MON2_ENST00000552738.1_Missense_Mutation_p.D1390E|MON2_ENST00000546600.1_Missense_Mutation_p.D1419E|MON2_ENST00000280379.6_Missense_Mutation_p.D1420E|MON2_ENST00000393632.2_Missense_Mutation_p.D1419E	NM_001278470.1|NM_001278472.1	NP_001265399.1|NP_001265401.1	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	1420					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		TAGTTGTGGATTTATACCAAA	0.343000													54	79					0	0	0.00361006	0	0
SIGLEC16	400709	broad.mit.edu	37	19	50474570	50474570	+	RNA	SNP	C	C	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr19:50474570C>T	ENST00000602139.1	+	0	927									sialic acid binding Ig-like lectin 16 (gene/pseudogene)											endometrium(2)|kidney(2)|lung(6)	10						GCCGGGGATTCAGGGCGCTAC	0.677000													21	23					0	0	0.00127121	0	0
TMTC2	160335	broad.mit.edu	37	12	83424584	83424584	+	Missense_Mutation	SNP	A	A	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr12:83424584A>T	ENST00000549919.1	+	10	3865	c.2060A>T	c.(2059-2061)aAg>aTg	p.K687M	TMTC2_ENST00000321196.3_Missense_Mutation_p.K693M			Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	693						endoplasmic reticulum|integral to membrane	binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						AAGGGTCGTAAGAGTGAGGCT	0.428000													22	26					0	0	0.00278032	0	0
LRP2	4036	broad.mit.edu	37	2	170027071	170027071	+	Silent	SNP	T	T	C			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr2:170027071T>C	ENST00000263816.3	-	59	11655	c.11370A>G	c.(11368-11370)gaA>gaG	p.E3790E		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3790	LDL-receptor class A 32.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CACAGTCCCGTTCATCTGAGT	0.453000													58	61					0	0	0.00361006	0	0
MIR543	100126335	broad.mit.edu	37	14	101498401	101498401	+	RNA	SNP	C	C	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr14:101498401C>T	ENST00000390751.1	+	0	78					NR_030619.1																						TTTTCAGTATCCTATTCTGCC	0.493000													18	31					0	0	0.00121646	0	0
PDCL	5082	broad.mit.edu	37	9	125582721	125582721	+	Silent	SNP	G	G	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr9:125582721G>T	ENST00000259467.4	-	4	714	c.549C>A	c.(547-549)atC>atA	p.I183I		NM_005388.4	NP_005379.3	Q13371	PHLP_HUMAN	phosducin-like	183					signal transduction|visual perception					endometrium(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	10						TATGAACCATGATGACAATGC	0.463000													40	7					1.59361e-14	5.57493e-14	0.00148497	1	0
CHERP	10523	broad.mit.edu	37	19	16631005	16631005	+	Missense_Mutation	SNP	G	G	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr19:16631005G>T	ENST00000546361.2	-	15	2568	c.2417C>A	c.(2416-2418)tCc>tAc	p.S806Y	CHERP_ENST00000198939.6_Missense_Mutation_p.S817Y|CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000544299.1_5'UTR|C19orf44_ENST00000221671.3_3'UTR	NM_006387.5	NP_006378.3	Q8IWX8	CHERP_HUMAN	calcium homeostasis endoplasmic reticulum protein	806	Arg-rich.				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						TCTTCCTGGGGAGTACGACTT	0.647000													33	46					3.03874e-20	1.0703e-19	0.00327116	1	0
SLC9C1	285335	broad.mit.edu	37	3	111988825	111988825	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr3:111988825A>G	ENST00000305815.5	-	7	965	c.713T>C	c.(712-714)tTt>tCt	p.F238S	SLC9C1_ENST00000487372.1_Missense_Mutation_p.F238S	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	238					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										ATCATCACCAAAAACAGTTGA	0.323000													74	89					0	0	0.00361006	0	0
PASK	23178	broad.mit.edu	37	2	242063468	242063468	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr2:242063468G>A	ENST00000403638.3	-	11	2891	c.2800C>T	c.(2800-2802)Cac>Tac	p.H934Y	PASK_ENST00000539818.1_Missense_Mutation_p.H718Y|PASK_ENST00000544142.1_Missense_Mutation_p.H748Y|PASK_ENST00000405260.1_Missense_Mutation_p.H934Y|PASK_ENST00000234040.4_Missense_Mutation_p.H934Y|PASK_ENST00000358649.4_Missense_Mutation_p.H934Y	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	934					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		CGTTGGCTGTGGAGGAGGTCT	0.637000													16	27					0	0	0.00400662	0	0
CYP3A5	1577	broad.mit.edu	37	7	99261621	99261621	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr7:99261621C>T	ENST00000343703.5	-	9	1124	c.738G>A	c.(736-738)atG>atA	p.M246I	CYP3A5_ENST00000222982.4_Missense_Mutation_p.M256I|CYP3A5_ENST00000339843.2_3'UTR					cytochrome P450, family 3, subfamily A, polypeptide 5											NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166)					GACTTTTCTTCATTCTGTTTA	0.313000													70	105					0	0	0.00361006	0	0
MEFV	4210	broad.mit.edu	37	16	3304352	3304352	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr16:3304352C>T	ENST00000219596.1	-	2	755	c.716G>A	c.(715-717)cGa>cAa	p.R239Q	MEFV_ENST00000339854.4_Intron|MEFV_ENST00000541159.1_Intron|MEFV_ENST00000536379.1_Intron	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	239					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	GCTTCTAGGTCGCATCTTTCC	0.617000													75	78					0	0	0.00361006	0	0
ZP2	7783	broad.mit.edu	37	16	21210907	21210907	+	Silent	SNP	G	G	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr16:21210907G>A	ENST00000574002.1	-	17	2393	c.1911C>T	c.(1909-1911)tcC>tcT	p.S637S	ZP2_ENST00000574091.1_Silent_p.S628S|AF001550.7_ENST00000572747.1_RNA|ZP2_ENST00000219593.4_Silent_p.S637S			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	637	ZP.				binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity	p.S637S(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		TGTGCCTAGAGGACACAGGGC	0.443000													21	32					0	0	0.00278032	0	0
ROR2	4920	broad.mit.edu	37	9	94499762	94499762	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr9:94499762C>T	ENST00000375708.3	-	5	731	c.533G>A	c.(532-534)cGg>cAg	p.R178Q	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Missense_Mutation_p.R38Q	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	178	FZ.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GGCAATTCCCCGGTAAGGCTG	0.532000													47	12					0	0	0.00361006	0	0
ROS1	6098	broad.mit.edu	37	6	117629985	117629985	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr6:117629985C>T	ENST00000368508.3	-	41	6739	c.6541G>A	c.(6541-6543)Gag>Aag	p.E2181K	ROS1_ENST00000368507.3_Missense_Mutation_p.E2175K	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	2181	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CTTGGTGGCTCCAGTCTCCCT	0.393000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								4	34					0	0	0.00024832	0	0
TOX2	84969	broad.mit.edu	37	20	42679948	42679948	+	Silent	SNP	C	C	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr20:42679948C>T	ENST00000358131.5	+	4	649	c.441C>T	c.(439-441)atC>atT	p.I147I	TOX2_ENST00000435864.2_Silent_p.I16I|TOX2_ENST00000372999.1_Silent_p.I96I|TOX2_ENST00000341197.3_Silent_p.I138I|TOX2_ENST00000423191.1_Silent_p.I96I	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	147					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			TCTCTTAGATCCAGGAGATGG	0.607000													22	27					0	0	0.00278032	0	0
SAMSN1	64092	broad.mit.edu	37	21	15889309	15889309	+	Silent	SNP	A	A	G			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr21:15889309A>G	ENST00000285670.2	-	4	561	c.387T>C	c.(385-387)aaT>aaC	p.N129N	SAMSN1_ENST00000400564.1_Intron|SAMSN1_ENST00000400566.1_Silent_p.N61N	NM_001256370.1	NP_001243299.1	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	61					negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		CGCCTCCATTATTTGAAGTTT	0.333000													23	26					0	0	0.00278032	0	0
TIGD3	220359	broad.mit.edu	37	11	65124566	65124566	+	Silent	SNP	C	C	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr11:65124566C>T	ENST00000309880.5	+	2	1494	c.1287C>T	c.(1285-1287)ccC>ccT	p.P429P		NM_145719.2	NP_663771.1	Q6B0B8	TIGD3_HUMAN	tigger transposable element derived 3	429					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						AGCCCCTGCCCACCAAAGCTG	0.562000													27	58					0	0	0.000878237	0	0
TTN	7273	broad.mit.edu	37	2	179516450	179516450	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr2:179516450G>A	ENST00000589042.1	-	206	39630	c.39406C>T	c.(39406-39408)Cca>Tca	p.P13136S	TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.P10702S|TTN_ENST00000591111.1_Missense_Mutation_p.P11629S|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11489	Ig-like 87.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCTTTTCTGGGACAGGTTTC	0.408000													18	27					0	0	0.00278032	0	0
ZSCAN1	284312	broad.mit.edu	37	19	58564834	58564834	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr19:58564834G>A	ENST00000282326.1	+	6	889	c.642G>A	c.(640-642)tgG>tgA	p.W214*		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	214					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CGAGTATCTGGGACGAGCCTG	0.632000													31	49					0	0	0.00283554	0	0
ZNF831	128611	broad.mit.edu	37	20	57781968	57781968	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr20:57781968G>A	ENST00000371030.2	+	3	3884	c.3884G>A	c.(3883-3885)gGg>gAg	p.G1295E		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1295						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)					AGGTACAAAGGGAATTTCTTG	0.542000													70	118					0	0	0.00361006	0	0
ZNF775	285971	broad.mit.edu	37	7	150093761	150093761	+	Silent	SNP	G	G	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr7:150093761G>A	ENST00000329630.5	+	3	299	c.192G>A	c.(190-192)ggG>ggA	p.G64G		NM_173680.3	NP_775951.2	Q96BV0	ZN775_HUMAN	zinc finger protein 775	64					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(7)|skin(1)	11	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.0173)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GAGCCCTGGGGGGACAGGAGG	0.706000													17	14					0	0	0.00152264	0	0
AIM1	202	broad.mit.edu	37	6	107006410	107006410	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr6:107006410G>A	ENST00000369066.3	+	16	5028	c.4541G>A	c.(4540-4542)gGa>gAa	p.G1514E	AIM1_ENST00000535438.1_Missense_Mutation_p.G333E	NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	1514	Beta/gamma crystallin 'Greek key' 11.						sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		GACTTCAAAGGAAAAAAGATT	0.353000													14	6					0	0	0.00185496	0	0
DNAH5	1767	broad.mit.edu	37	5	13753548	13753548	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr5:13753548G>A	ENST00000265104.4	-	63	10770	c.10666C>T	c.(10666-10668)Cca>Tca	p.P3556S		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3556					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTTCCAAATGGAATTTTCCGG	0.403000									Kartagener syndrome				49	73					0	0	0.00361006	0	0
FAM102A	399665	broad.mit.edu	37	9	130707123	130707123	+	Silent	SNP	G	G	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr9:130707123G>A	ENST00000373095.1	-	9	1347	c.972C>T	c.(970-972)atC>atT	p.I324I	FAM102A_ENST00000373084.4_Silent_p.I182I|FAM102A_ENST00000300434.3_5'UTR	NM_001035254.2	NP_001030331.1	Q5T9C2	F102A_HUMAN	family with sequence similarity 102, member A	324										breast(1)|cervix(1)|large_intestine(3)|lung(1)|ovary(4)	10						CATCCGCATCGATCCGCGTGT	0.637000													17	3					0	0	0.00400662	0	0
TPM4	7171	broad.mit.edu	37	19	16186893	16186893	+	Missense_Mutation	SNP	A	A	C			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr19:16186893A>C	ENST00000538887.1	+	2	238	c.151A>C	c.(151-153)Aaa>Caa	p.K51Q	TPM4_ENST00000344824.6_Missense_Mutation_p.K51Q			P67936	TPM4_HUMAN	tropomyosin 4	15					cellular component movement|muscle filament sliding|response to oxidative stress	cytosol|muscle thin filament tropomyosin|stress fiber	actin binding|calcium ion binding|structural constituent of muscle		TPM4/ALK(12)	breast(1)|large_intestine(3)	4						GAAGAAACTAAAAGGGACAGA	0.617000			T	ALK	ALCL								7	8					0	0	0.00198382	0	0
DNAH17	8632	broad.mit.edu	37	17	76525716	76525716	+	Silent	SNP	C	C	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr17:76525716C>T	ENST00000389840.5	-	22	3469	c.3345G>A	c.(3343-3345)aaG>aaA	p.K1115K	DNAH17_ENST00000585328.1_Silent_p.K1112K					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			AGTCCCCCTCCTTGAGGGGCT	0.577000													31	78					0	0	0.00375469	0	0
TRIM51HP	440041	broad.mit.edu	37	11	55062994	55062994	+	RNA	SNP	C	C	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr11:55062994C>T	ENST00000526016.1	-	0	643					NR_038174.2																						ATACATTCCTCTTAAAAGCTC	0.428000													8	16					0	0	0.000442599	0	0
ABCC11	85320	broad.mit.edu	37	16	48209175	48209175	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr16:48209175G>A	ENST00000394747.1	-	25	4041	c.3692C>T	c.(3691-3693)aCc>aTc	p.T1231I	ABCC11_ENST00000394748.1_Missense_Mutation_p.T1231I|ABCC11_ENST00000353782.5_Missense_Mutation_p.T1231I|ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000356608.2_Missense_Mutation_p.T1231I	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	1231	ABC transporter 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				TCACCTGATGGTTCCTGAGAG	0.602000													36	10					0	0	0.00222228	0	0
DAZL	1618	broad.mit.edu	37	3	16639634	16639634	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr3:16639634C>T	ENST00000250863.8	-	3	549	c.262G>A	c.(262-264)Gaa>Aaa	p.E88K	DAZL_ENST00000399444.2_Missense_Mutation_p.E68K	NM_001190811.1	NP_001177740.1	Q92904	DAZL_HUMAN	deleted in azoospermia-like	68	Homodimerization (By similarity).|RRM.				germ cell development|multicellular organismal development|positive regulation of translational initiation|spermatogenesis	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding|translation activator activity		RAF1/DAZL(2)	endometrium(1)|large_intestine(3)|lung(4)|prostate(3)	11						ATCTTCACTTCTTTCACTGAA	0.343000													37	60					0	0	0.00222228	0	0
LTBP3	4054	broad.mit.edu	37	11	65309153	65309153	+	Silent	SNP	C	C	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr11:65309153C>T	ENST00000301873.5	-	19	2911	c.2643G>A	c.(2641-2643)ggG>ggA	p.G881G	LTBP3_ENST00000536982.1_Silent_p.G507G|LTBP3_ENST00000530785.1_5'UTR|LTBP3_ENST00000532932.1_Silent_p.G311G|LTBP3_ENST00000529189.1_5'UTR|LTBP3_ENST00000322147.4_Silent_p.G881G	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	881	Cys-rich.|EGF-like 9; calcium-binding (Potential).					extracellular region	calcium ion binding|growth factor binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						TCTTGCAGGCCCCATGGGGAA	0.622000													24	30					0	0	0.00332997	0	0
TRIM60	166655	broad.mit.edu	37	4	165962255	165962255	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr4:165962255G>A	ENST00000512596.1	+	3	1247	c.1031G>A	c.(1030-1032)aGa>aAa	p.R344K	TRIM60_ENST00000508504.1_Missense_Mutation_p.R344K|TRIM60_ENST00000341062.5_Missense_Mutation_p.R344K	NM_152620.2	NP_689833.1	Q495X7	TRI60_HUMAN	tripartite motif containing 60	344	B30.2/SPRY.					intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		GGCTCTCAGAGATTTAGTTCT	0.423000													44	71					0	0	0.00361006	0	0
MYH7	4625	broad.mit.edu	37	14	23887583	23887583	+	Silent	SNP	C	C	T	rs144465613	byFrequency	TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr14:23887583C>T	ENST00000355349.3	-	30	4167	c.4005G>A	c.(4003-4005)tcG>tcA	p.S1335S		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1335					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.S1335S(3)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CATGCCGGGCCGACTGCAGTG	0.662000													6	59					0	0	0.000274275	0	0
MAGEA12	4111	broad.mit.edu	37	X	151900372	151900372	+	Silent	SNP	G	G	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chrX:151900372G>A	ENST00000393900.3	-	3	782	c.429C>T	c.(427-429)ttC>ttT	p.F143F	MAGEA12_ENST00000393869.3_Silent_p.F143F|MAGEA12_ENST00000357916.4_Silent_p.F143F|CSAG4_ENST00000361201.4_RNA	NM_001166386.1	NP_001159858.1	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	143	MAGE.									breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					AGAAGTCCTGGAAATTTCTGA	0.507000													81	12					0	0	0.00361006	0	0
ZNF831	128611	broad.mit.edu	37	20	57828962	57828962	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr20:57828962C>T	ENST00000371030.2	+	5	4198	c.4198C>T	c.(4198-4200)Cca>Tca	p.P1400S		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1400						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)					GGATATTTCTCCATCTGCTGG	0.453000													31	49					0	0	0.00428921	0	0
FOLR1	2348	broad.mit.edu	37	11	71907114	71907114	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr11:71907114G>A	ENST00000393679.1	+	5	1103	c.667G>A	c.(667-669)Gag>Aag	p.E223K	FOLR1_ENST00000312293.4_Missense_Mutation_p.E223K|RP11-807H22.7_ENST00000378140.3_RNA|FOLR1_ENST00000393676.3_Missense_Mutation_p.E223K|FOLR1_ENST00000393681.2_Missense_Mutation_p.E223K			P15328	FOLR1_HUMAN	folate receptor 1 (adult)	223					cell death|folic acid transport|receptor-mediated endocytosis	anchored to membrane|extracellular region|integral to plasma membrane|membrane fraction	folic acid binding|receptor activity			cervix(2)|endometrium(1)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	14						CAACCCCAATGAGGAGGTGGC	0.607000													36	32					0	0	0.000953801	0	0
TNIK	23043	broad.mit.edu	37	3	170805189	170805189	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr3:170805189G>A	ENST00000436636.2	-	24	3172	c.2828C>T	c.(2827-2829)cCg>cTg	p.P943L	TNIK_ENST00000488470.1_Missense_Mutation_p.P888L|TNIK_ENST00000369326.5_Missense_Mutation_p.P921L|TNIK_ENST00000284483.8_Missense_Mutation_p.P935L|TNIK_ENST00000538048.1_Missense_Mutation_p.P895L|TNIK_ENST00000460047.1_Missense_Mutation_p.P880L|TNIK_ENST00000341852.6_Missense_Mutation_p.P859L|TNIK_ENST00000475336.1_Missense_Mutation_p.P851L|TNIK_ENST00000357327.5_Missense_Mutation_p.P914L|TNIK_ENST00000470834.1_Missense_Mutation_p.P906L	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	943	Mediates interaction with NEDD4.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			TCCCTCAGTCGGGGTTCCAGC	0.582000													44	59					0	0	0.0025221	0	0
XPO5	57510	broad.mit.edu	37	6	43517301	43517301	+	Silent	SNP	C	C	G			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr6:43517301C>G	ENST00000265351.7	-	17	1995	c.1785G>C	c.(1783-1785)cgG>cgC	p.R595R		NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	595	Necessary for interaction with ILF3.				gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			TCCTCACTGCCCGGGTTCTGG	0.498000													59	57					0	0	0.00361006	0	0
ZNF440	126070	broad.mit.edu	37	19	11942603	11942603	+	Missense_Mutation	SNP	T	T	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr19:11942603T>A	ENST00000304060.5	+	4	776	c.612T>A	c.(610-612)ttT>ttA	p.F204L		NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	204					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						AATGTAAGTTTTGTGGGAAAG	0.368000													55	83					0	0	0.00361006	0	0
WNT7A	7476	broad.mit.edu	37	3	13896034	13896034	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr3:13896034G>A	ENST00000285018.4	-	3	869	c.565C>T	c.(565-567)Cga>Tga	p.R189*		NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family, member 7A	189					activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						CCTACCTTTCGGCCTGCCTCG	0.587000													122	131					0	0	0.00361006	0	0
OR2L3	391192	broad.mit.edu	37	1	248224344	248224344	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr1:248224344C>T	ENST00000359959.3	+	1	361	c.361C>T	c.(361-363)Cgt>Tgt	p.R121C	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			GGCCTATGATCGTTACATTGC	0.443000													99	195					0	0	0.00361006	0	0
NUCKS1	64710	broad.mit.edu	37	1	205696889	205696889	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr1:205696889G>A	ENST00000367142.4	-	3	414	c.112C>T	c.(112-114)Cga>Tga	p.R38*		NM_022731.4	NP_073568.2	Q9H1E3	NUCKS_HUMAN	nuclear casein kinase and cyclin-dependent kinase substrate 1	38						nucleus				endometrium(4)|large_intestine(1)|lung(9)	14	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			GGAGATGATCGAATTTTCTTA	0.363000													65	50					0	0	0.00361006	0	0
BPTF	2186	broad.mit.edu	37	17	65972002	65972002	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr17:65972002C>T	ENST00000321892.4	+	29	9093	c.9032C>T	c.(9031-9033)tCc>tTc	p.S3011F	BPTF_ENST00000424123.3_Missense_Mutation_p.S2729F|BPTF_ENST00000335221.5_Missense_Mutation_p.S2868F|BPTF_ENST00000306378.6_Missense_Mutation_p.S2885F			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	3011	Bromo.				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	p.S2885>?(1)|p.S2868>?(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			CCAAGTGACTCCCCATTTTAC	0.388000													61	48					0	0	0.00361006	0	0
DSCAM	1826	broad.mit.edu	37	21	41648035	41648035	+	Missense_Mutation	SNP	A	A	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr21:41648035A>T	ENST00000400454.1	-	11	2822	c.2345T>A	c.(2344-2346)cTc>cAc	p.L782H		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	782	Ig-like C2-type 8.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TTTAACCGTGAGGTACATGGA	0.468000													37	56					0	0	0.00111076	0	0
TRIM46	80128	broad.mit.edu	37	1	155150687	155150687	+	Silent	SNP	A	A	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr1:155150687A>T	ENST00000392451.2	+	6	1202	c.1119A>T	c.(1117-1119)acA>acT	p.T373T	TRIM46_ENST00000368383.3_Silent_p.T373T|TRIM46_ENST00000468878.1_3'UTR|TRIM46_ENST00000368385.4_Silent_p.T373T|TRIM46_ENST00000334634.4_Silent_p.T373T|TRIM46_ENST00000545012.1_Silent_p.T247T|TRIM46_ENST00000543729.1_Silent_p.T380T|TRIM46_ENST00000368382.1_Silent_p.T350T			Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46	373	COS.					intracellular	zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TTAAGGAAACAGACCAGCCTT	0.607000													16	49					0	0	0.000566183	0	0
TULP2	7288	broad.mit.edu	37	19	49398348	49398348	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr19:49398348C>T	ENST00000221399.3	-	6	565	c.421G>A	c.(421-423)Gaa>Aaa	p.E141K		NM_003323.2	NP_003314.2	O00295	TULP2_HUMAN	tubby like protein 2	141					visual perception	cytoplasm|extracellular region				NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	22		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)		ACGGAGACTTCCTCCAATTCT	0.527000													31	32					0	0	0.00327116	0	0
KDM2B	84678	broad.mit.edu	37	12	121878938	121878938	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr12:121878938G>A	ENST00000377069.4	-	19	3582	c.3176C>T	c.(3175-3177)tCc>tTc	p.S1059F	KDM2B_ENST00000377071.4_Missense_Mutation_p.S1128F|KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000542973.1_Missense_Mutation_p.S496F	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	1128	F-box.				embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						GAGGTCGAGGGAGACGGGCTG	0.607000													18	26					0	0	0.00074312	0	0
ENPP6	133121	broad.mit.edu	37	4	185038028	185038028	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr4:185038028G>A	ENST00000296741.2	-	5	977	c.836C>T	c.(835-837)gCc>gTc	p.A279V		NM_153343.3	NP_699174.1	Q6UWR7	ENPP6_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 6	279					lipid catabolic process	extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		TTTCCCAGGGGCCGGCCAAAG	0.557000													27	18					0	0	0.00209593	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102509020	102509020	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr14:102509020C>T	ENST00000360184.4	+	69	12612	c.12448C>T	c.(12448-12450)Ccg>Tcg	p.P4150S	RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	4150	AAA 6 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GTTCGAGCCACCGCCAGGGGT	0.582000													15	36					0	0	0.00152264	0	0
WNT7A	7476	broad.mit.edu	37	3	13896035	13896035	+	Silent	SNP	G	G	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr3:13896035G>A	ENST00000285018.4	-	3	868	c.564C>T	c.(562-564)ggC>ggT	p.G188G		NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family, member 7A	188					activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						CTACCTTTCGGCCTGCCTCGT	0.582000													121	127					0	0	0.00361006	0	0
EPB41L1	2036	broad.mit.edu	37	20	34797622	34797622	+	Silent	SNP	C	C	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr20:34797622C>T	ENST00000338074.2	+	15	2042	c.1881C>T	c.(1879-1881)gaC>gaT	p.D627D	EPB41L1_ENST00000373941.1_Silent_p.D627D|EPB41L1_ENST00000441639.1_Silent_p.D553D|EPB41L1_ENST00000202028.5_Silent_p.D553D|EPB41L1_ENST00000373946.3_Intron|EPB41L1_ENST00000373950.2_Silent_p.D518D|EPB41L1_ENST00000479336.1_3'UTR	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	627					cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					TCATTGGTGACTACCATGGCA	0.602000													14	15					0	0	0.00316338	0	0
LAMA2	3908	broad.mit.edu	37	6	129571294	129571294	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr6:129571294C>T	ENST00000421865.2	+	13	1869	c.1820C>T	c.(1819-1821)tCa>tTa	p.S607L		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	607	Laminin IV type A 1.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TTTACCATATCATATGACCTT	0.403000													30	10					0	0	0.00283554	0	0
SCN3B	55800	broad.mit.edu	37	11	123508986	123508986	+	Silent	SNP	G	G	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr11:123508986G>A	ENST00000392770.2	-	4	1294	c.492C>T	c.(490-492)atC>atT	p.I164I	SCN3B_ENST00000530277.1_Silent_p.I164I|SCN3B_ENST00000299333.3_Silent_p.I164I	NM_018400.3	NP_060870.1	Q9NY72	SCN3B_HUMAN	sodium channel, voltage-gated, type III, beta subunit	164					axon guidance	integral to membrane|plasma membrane	voltage-gated sodium channel activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)		AGACCAGAAGGATGTACATCA	0.468000													27	6					0	0	0.00209593	0	0
CSMD1	64478	broad.mit.edu	37	8	3087730	3087730	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr8:3087730C>T	ENST00000602557.1	-	28	4735	c.4180G>A	c.(4180-4182)Gat>Aat	p.D1394N	CSMD1_ENST00000539096.1_Missense_Mutation_p.D1393N|CSMD1_ENST00000537824.1_Missense_Mutation_p.D1393N|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000400186.3_Missense_Mutation_p.D1394N|CSMD1_ENST00000602723.1_Missense_Mutation_p.D1394N|CSMD1_ENST00000520002.1_Missense_Mutation_p.D1394N|CSMD1_ENST00000542608.1_Missense_Mutation_p.D1393N			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1394	Sushi 8.					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)		ATACCTGGATCGTTACAGGTG	0.517000													10	15					0	0	0.000978159	0	0
UBR4	23352	broad.mit.edu	37	1	19477268	19477268	+	Silent	SNP	T	T	C			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr1:19477268T>C	ENST00000375267.2	-	49	7236	c.7233A>G	c.(7231-7233)ccA>ccG	p.P2411P	UBR4_ENST00000375254.3_Silent_p.P2411P|UBR4_ENST00000375217.2_Silent_p.P2411P|UBR4_ENST00000375226.2_Silent_p.P2411P			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2411					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TGACACCTGCTGGATCCACCG	0.498000													75	107					0	0	0.00361006	0	0
SCN10A	6336	broad.mit.edu	37	3	38805031	38805031	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr3:38805031A>G	ENST00000449082.2	-	5	655	c.656T>C	c.(655-657)gTt>gCt	p.V219A		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	219					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TGCTCTAAGAACTCTGAATGT	0.448000													48	75					0	0	0.00361006	0	0
TCL6	27004	broad.mit.edu	37	14	96136862	96136862	+	RNA	SNP	C	C	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr14:96136862C>T	ENST00000467865.1	+	0	1972				RP11-1070N10.6_ENST00000461160.1_RNA																large_intestine(1)|lung(7)	8		all_cancers(154;0.103)		Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207)		GTCCTTTTTTCCTTCCTTCTC	0.502000			T	TRA@	T-ALL								21	22					0	0	0.00278032	0	0
SERPINB4	6318	broad.mit.edu	37	18	61310740	61310740	+	Silent	SNP	C	C	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr18:61310740C>T	ENST00000341074.5	-	2	187	c.72G>A	c.(70-72)gaG>gaA	p.E24E	SERPINB4_ENST00000356424.6_Silent_p.E24E	NM_002974.2	NP_002965.1			serpin peptidase inhibitor, clade B (ovalbumin), member 4											breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						AGATGTTGTTCTCTTTTGATT	0.428000													41	81					0	0	0.00321405	0	0
TRIM42	287015	broad.mit.edu	37	3	140401581	140401581	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr3:140401581G>A	ENST00000286349.3	+	2	810	c.619G>A	c.(619-621)Gag>Aag	p.E207K		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	207						intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GCAGCTGCCCGAGAACTACCT	0.617000													36	48					0	0	0.00375469	0	0
CAPZA3	93661	broad.mit.edu	37	12	18891976	18891976	+	Silent	SNP	G	G	A	rs139395998	byFrequency	TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr12:18891976G>A	ENST00000317658.3	+	1	932	c.774G>A	c.(772-774)agG>agA	p.R258R		NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	258					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				TTCTACGAAGGGATCTTCCAG	0.408000													33	44					0	0	0.00428921	0	0
TRIO	7204	broad.mit.edu	37	5	14471535	14471535	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr5:14471535G>A	ENST00000344204.4	+	38	5896	c.5872G>A	c.(5872-5874)Gag>Aag	p.E1958K	TRIO_ENST00000537187.1_Missense_Mutation_p.E1958K	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1958					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GCCCATTGATGAGATGGAAGA	0.468000													24	30					0	0	0.00278032	0	0
TLL1	7092	broad.mit.edu	37	4	166929145	166929145	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr4:166929145G>A	ENST00000061240.2	+	7	1509	c.862G>A	c.(862-864)Gga>Aga	p.G288R	TLL1_ENST00000507499.1_Missense_Mutation_p.G288R|TLL1_ENST00000513213.1_Missense_Mutation_p.G288R	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	288	Metalloprotease (By similarity).				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		AAACTCACTTGGAGAAAGATA	0.393000													27	45					0	0	0.00127121	0	0
ERI3	79033	broad.mit.edu	37	1	44804890	44804890	+	Silent	SNP	A	A	G			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr1:44804890A>G	ENST00000372257.2	-	3	497	c.316T>C	c.(316-318)Tta>Cta	p.L106L	ERI3_ENST00000537474.1_Intron|ERI3_ENST00000495828.1_5'UTR	NM_024066.1	NP_076971.1	O43414	ERI3_HUMAN	ERI1 exoribonuclease family member 3	106						intracellular	exonuclease activity|metal ion binding|nucleic acid binding			endometrium(2)|large_intestine(2)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GGAGAAAATAAGTGGGAGCCC	0.512000													99	122					0	0	0.00361006	0	0
LPHN3	23284	broad.mit.edu	37	4	62813869	62813869	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr4:62813869C>T	ENST00000512091.1	+	16	3223	c.2476C>T	c.(2476-2478)Cgt>Tgt	p.R826C	LPHN3_ENST00000506700.1_Missense_Mutation_p.R826C|LPHN3_ENST00000514591.1_Missense_Mutation_p.R826C|LPHN3_ENST00000514157.1_Missense_Mutation_p.R826C|LPHN3_ENST00000514996.1_Missense_Mutation_p.R826C|LPHN3_ENST00000506746.1_Missense_Mutation_p.R894C|LPHN3_ENST00000508946.1_Missense_Mutation_p.R826C|LPHN3_ENST00000504896.1_Missense_Mutation_p.R826C|LPHN3_ENST00000506720.1_Missense_Mutation_p.R894C|LPHN3_ENST00000507625.1_Missense_Mutation_p.R894C|LPHN3_ENST00000545650.1_Missense_Mutation_p.R826C|LPHN3_ENST00000511324.1_Missense_Mutation_p.R894C|LPHN3_ENST00000509896.1_Missense_Mutation_p.R894C|LPHN3_ENST00000508693.1_Missense_Mutation_p.R894C|LPHN3_ENST00000507164.1_Missense_Mutation_p.R894C			Q9HAR2	LPHN3_HUMAN	latrophilin 3	813	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						CTACTCCAAGCGTACAATGAC	0.388000													20	20					0	0	0.000958276	0	0
CENPF	1063	broad.mit.edu	37	1	214819327	214819327	+	Silent	SNP	C	C	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr1:214819327C>T	ENST00000366955.3	+	13	6582	c.6414C>T	c.(6412-6414)atC>atT	p.I2138I		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2234	Interaction with NDE1 and NDEL1.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AGCTGCACATCGCAGAGAAAC	0.478000													23	68					0	0	0.00229938	0	0
TICRR	90381	broad.mit.edu	37	15	90168190	90168190	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr15:90168190C>T	ENST00000268138.7	+	20	4754	c.4649C>T	c.(4648-4650)tCc>tTc	p.S1550F	KIF7_ENST00000558928.1_Intron|TICRR_ENST00000560985.1_Missense_Mutation_p.S1549F					TOPBP1-interacting checkpoint and replication regulator																		GCTTGGCATTCCACAGACTCT	0.537000													25	47					0	0	0.00395357	0	0
OR4K1	79544	broad.mit.edu	37	14	20404494	20404494	+	Silent	SNP	C	C	T	rs141997601		TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr14:20404494C>T	ENST00000285600.4	+	1	728	c.669C>T	c.(667-669)atC>atT	p.I223I		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I223I(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TCATTTTGATCGGTGTCCGAT	0.423000													21	26					0	0	0.00152264	0	0
CLASP2	23122	broad.mit.edu	37	3	33614720	33614720	+	Missense_Mutation	SNP	T	T	C			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr3:33614720T>C	ENST00000399362.4	-	26	2958	c.2605A>G	c.(2605-2607)Atg>Gtg	p.M869V	CLASP2_ENST00000307312.7_Missense_Mutation_p.M350V|CLASP2_ENST00000480013.1_Missense_Mutation_p.M649V|CLASP2_ENST00000359576.5_Missense_Mutation_p.M861V|CLASP2_ENST00000468888.2_Missense_Mutation_p.M870V|CLASP2_ENST00000539981.1_Missense_Mutation_p.M639V|CLASP2_ENST00000461133.3_Missense_Mutation_p.M628V	NM_015097.2	NP_055912.2	B2RTR1	B2RTR1_HUMAN	cytoplasmic linker associated protein 2	870										breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						GTCTGCCTCATATATGTAGGA	0.428000													154	182					0	0	0.00361006	0	0
PNPLA5	150379	broad.mit.edu	37	22	44280203	44280203	+	Silent	SNP	C	C	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr22:44280203C>T	ENST00000216177.4	-	7	1104	c.972G>A	c.(970-972)agG>agA	p.R324R	PNPLA5_ENST00000597664.1_Silent_p.R324R|PNPLA5_ENST00000593866.1_Silent_p.R210R|PNPLA5_ENST00000381198.2_Silent_p.R210R	NM_138814.3	NP_620169.1	Q7Z6Z6	PLPL5_HUMAN	patatin-like phospholipase domain containing 5	324					lipid catabolic process		hydrolase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	16		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				GGCTGGGATCCCTCGTACATG	0.617000											OREG0026622	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	26	55					0	0	0.001512	0	0
RNLS	55328	broad.mit.edu	37	10	90034768	90034768	+	Silent	SNP	G	G	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr10:90034768G>A	ENST00000371947.3	-	7	2237	c.898C>T	c.(898-900)Cta>Tta	p.L300L	RNLS_ENST00000437752.1_Silent_p.L217L	NM_018363.3	NP_060833.1	Q5VYX0	RNLS_HUMAN	renalase, FAD-dependent amine oxidase	0						extracellular region	oxidoreductase activity			breast(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7						GCACATCCTAGAATCACACCA	0.443000													29	7					0	0	0.00209593	0	0
PCDH20	64881	broad.mit.edu	37	13	61987277	61987277	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr13:61987277G>A	ENST00000409186.1	-	5	3060	c.955C>T	c.(955-957)Ctc>Ttc	p.L319F	PCDH20_ENST00000409204.4_Missense_Mutation_p.L319F			Q8N6Y1	PCD20_HUMAN	protocadherin 20	292	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		TCTGTGAAGAGAGGGCAATTG	0.493000													26	47					0	0	0.00332997	0	0
FES	2242	broad.mit.edu	37	15	91433699	91433699	+	Silent	SNP	C	C	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr15:91433699C>T	ENST00000328850.3	+	10	1447	c.1305C>T	c.(1303-1305)ttC>ttT	p.F435F	FES_ENST00000444422.2_Silent_p.F435F|FES_ENST00000394300.3_Silent_p.F377F|FES_ENST00000448367.1_3'UTR|FES_ENST00000450438.2_Silent_p.F377F|FES_ENST00000394302.1_Silent_p.F377F|FES_ENST00000414248.2_Silent_p.F377F	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	feline sarcoma oncogene	435					axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			CAGGAATCTTCCGCCCCAAGT	0.617000													70	104					0	0	0.00361006	0	0
STK10	6793	broad.mit.edu	37	5	171520823	171520823	+	Missense_Mutation	SNP	A	A	C			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr5:171520823A>C	ENST00000176763.5	-	9	1490	c.1147T>G	c.(1147-1149)Tct>Gct	p.S383A		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	383							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CTGTCCCCAGAGGGCTGGCTG	0.642000													27	45					0	0	0.000720815	0	0
LPCAT1	79888	broad.mit.edu	37	5	1470956	1470956	+	Missense_Mutation	SNP	G	G	C			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr5:1470956G>C	ENST00000283415.3	-	12	1395	c.1263C>G	c.(1261-1263)atC>atG	p.I421M		NM_024830.3	NP_079106.3	Q8NF37	PCAT1_HUMAN	lysophosphatidylcholine acyltransferase 1	421					phospholipid biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)		AAGCCAGCTGGATGGTGTCCA	0.607000													38	44					0	0	0.00321405	0	0
MED13L	23389	broad.mit.edu	37	12	116429501	116429501	+	Silent	SNP	G	G	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr12:116429501G>A	ENST00000281928.3	-	17	3464	c.3258C>T	c.(3256-3258)ccC>ccT	p.P1086P		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1086					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		GTGTAGTAGAGGGGGTGGAGG	0.587000													23	31					0	0	0.00188189	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				70	81					0	0	0.00361006	0	0
UGGT1	56886	broad.mit.edu	37	2	128930207	128930207	+	Silent	SNP	G	G	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr2:128930207G>A	ENST00000375990.3	+	29	3496	c.3093G>A	c.(3091-3093)aaG>aaA	p.K1031K	UGGT1_ENST00000259253.6_Silent_p.K1055K			Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	1055					'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						GTTTTGCTAAGGGTCCAATCG	0.383000													38	49					0	0	0.00128727	0	0
WFS1	7466	broad.mit.edu	37	4	6303014	6303014	+	Missense_Mutation	SNP	G	G	A	rs71524358		TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr4:6303014G>A	ENST00000226760.1	+	8	1662	c.1492G>A	c.(1492-1494)Gtc>Atc	p.V498I	WFS1_ENST00000503569.1_Missense_Mutation_p.V498I	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	498					endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		CCACCTGGTCGTCCTCAACGT	0.592000													243	311					0	0	0.00361006	0	0
EPHA1	2041	broad.mit.edu	37	7	143095018	143095018	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr7:143095018G>A	ENST00000275815.3	-	8	1696	c.1610C>T	c.(1609-1611)cCa>cTa	p.P537L		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	537						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				CCCACCTGGTGGGCTGGTCCG	0.557000													47	75					0	0	0.00361006	0	0
TTN	7273	broad.mit.edu	37	2	179655531	179655531	+	Silent	SNP	T	T	C			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr2:179655531T>C	ENST00000589042.1	-	11	1928	c.1704A>G	c.(1702-1704)gtA>gtG	p.V568V	TTN_ENST00000360870.5_Silent_p.V568V|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Silent_p.V568V|TTN_ENST00000591111.1_Silent_p.V568V|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	568							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGTGGCAACTACCACCATGG	0.388000													36	46					0	0	0.000953801	0	0
DMBT1	1755	broad.mit.edu	37	10	124358342	124358342	+	Silent	SNP	G	G	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr10:124358342G>A	ENST00000338354.3	+	26	3115	c.3009G>A	c.(3007-3009)caG>caA	p.Q1003Q	DMBT1_ENST00000330163.4_Silent_p.Q504Q|DMBT1_ENST00000344338.3_Silent_p.Q993Q|DMBT1_ENST00000368909.3_Silent_p.Q1003Q|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368955.3_Silent_p.Q993Q|DMBT1_ENST00000368956.2_Silent_p.Q504Q			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1003	SRCR 8.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				ACAGGTGTCAGGGCCGAGTGG	0.562000													188	62					0	0	0.00361006	0	0
ZNF648	127665	broad.mit.edu	37	1	182026983	182026983	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr1:182026983G>A	ENST00000339948.3	-	2	370	c.163C>T	c.(163-165)Cca>Tca	p.P55S		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	55					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						CTGCCCCTTGGACAGGCCACC	0.562000													32	95					0	0	0.0024448	0	0
ZNF711	7552	broad.mit.edu	37	X	84510572	84510572	+	Silent	SNP	C	C	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chrX:84510572C>T	ENST00000360700.4	+	4	1273	c.387C>T	c.(385-387)ttC>ttT	p.F129F	ZNF711_ENST00000373165.3_Silent_p.F129F|ZNF711_ENST00000395402.1_Silent_p.F107F|ZNF711_ENST00000276123.3_Silent_p.F129F			Q9Y462	ZN711_HUMAN	zinc finger protein 711	129					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						AGCAGGTTTTCGTGGCTGACC	0.448000													63	19					0	0	0.00361006	0	0
CASP4	837	broad.mit.edu	37	11	104825688	104825688	+	Silent	SNP	G	G	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr11:104825688G>A	ENST00000444739.2	-	2	958	c.48C>T	c.(46-48)tcC>tcT	p.S16S	CASP4_ENST00000531333.1_5'UTR|CASP4_ENST00000393150.3_5'UTR	NM_001225.3	NP_001216.1	P49662	CASP4_HUMAN	caspase 4, apoptosis-related cysteine peptidase	16	CARD.				apoptosis|induction of apoptosis|proteolysis	intracellular	cysteine-type endopeptidase activity|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2)	23		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)		CTTTGCCCAGGGATTCCAACA	0.388000													36	8					0	0	0.00283554	0	0
TNNT2	7139	broad.mit.edu	37	1	201330443	201330443	+	Silent	SNP	G	G	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr1:201330443G>A	ENST00000509001.1	-	14	1030	c.744C>T	c.(742-744)ttC>ttT	p.F248F	TNNT2_ENST00000367322.1_Silent_p.F245F|TNNT2_ENST00000367318.5_Silent_p.F248F|TNNT2_ENST00000367315.2_Silent_p.F245F|TNNT2_ENST00000236918.7_Silent_p.F253F|TNNT2_ENST00000367320.2_Silent_p.F215F|TNNT2_ENST00000458432.2_Silent_p.F257F|TNNT2_ENST00000421663.2_Silent_p.F251F|TNNT2_ENST00000460780.1_5'UTR|TNNT2_ENST00000367317.4_Silent_p.F248F|TNNT2_ENST00000360372.4_Silent_p.F243F	NM_001276347.1	NP_001263276.1	P45379	TNNT2_HUMAN	troponin T type 2 (cardiac)	258					ATP catabolic process|muscle filament sliding|negative regulation of ATPase activity|positive regulation of ATPase activity|regulation of heart contraction|response to calcium ion|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|tropomyosin binding|troponin C binding|troponin I binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(9)	20						CCTGCAGGTCGAACTTCTCTG	0.577000											OREG0014076	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	147	266					0	0	0.00361006	0	0
FLG2	388698	broad.mit.edu	37	1	152324077	152324077	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr1:152324077C>T	ENST00000388718.5	-	3	6257	c.6185G>A	c.(6184-6186)gGa>gAa	p.G2062E	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2062							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)			AACTGAGGATCCTGACTCTCC	0.532000													332	219					0	0	0.00361006	0	0
TBX3	6926	broad.mit.edu	37	12	115114221	115114221	+	Silent	SNP	C	C	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr12:115114221C>T	ENST00000349155.2	-	5	1899	c.936G>A	c.(934-936)gaG>gaA	p.E312E	TBX3_ENST00000257566.3_Silent_p.E332E	NM_005996.3	NP_005987.3	O15119	TBX3_HUMAN	T-box 3	332					anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		AGGTCCCATTCTCCTTTTTGT	0.502000													60	62					0	0	0.00361006	0	0
CACNA1A	773	broad.mit.edu	37	19	13409919	13409919	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr19:13409919G>A	ENST00000360228.5	-	19	2527	c.2528C>T	c.(2527-2529)cCc>cTc	p.P843L	CACNA1A_ENST00000573710.2_Missense_Mutation_p.P844L	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	844					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)	GTCCACGGTGGGCTCGGCCGC	0.706000													10	14					0	0	0.000442599	0	0
AGXT2	64902	broad.mit.edu	37	5	35014170	35014170	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr5:35014170C>T	ENST00000231420.6	-	10	1218	c.1018G>A	c.(1018-1020)Gat>Aat	p.D340N		NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	340					glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	GGCAGGACATCGTGGGTTTGG	0.502000													41	50					0	0	0.00148497	0	0
DNAH5	1767	broad.mit.edu	37	5	13700768	13700768	+	Silent	SNP	C	C	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr5:13700768C>T	ENST00000265104.4	-	78	13808	c.13704G>A	c.(13702-13704)agG>agA	p.R4568R		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4568					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTGCATAAATCCTTATGACAG	0.383000									Kartagener syndrome				46	75					0	0	0.00361006	0	0
LAMB1	3912	broad.mit.edu	37	7	107571871	107571871	+	Silent	SNP	G	G	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr7:107571871G>T	ENST00000393561.1	-	27	4723	c.4539C>A	c.(4537-4539)acC>acA	p.T1513T	LAMB1_ENST00000222399.6_Silent_p.T1489T|LAMB1_ENST00000474380.1_5'UTR			P07942	LAMB1_HUMAN	laminin, beta 1	1489	Domain I.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTTTTTCTTTGGTAGCATTTG	0.353000													6	221					0.00198382	0.00675677	0.00198382	1	0
ACTL6B	51412	broad.mit.edu	37	7	100246201	100246201	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr7:100246201G>A	ENST00000160382.5	-	7	753	c.647C>T	c.(646-648)cCa>cTa	p.P216L		NM_016188.4	NP_057272.1	O94805	ACL6B_HUMAN	actin-like 6B	216					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex|SWI/SNF complex	ATP binding|protein binding|structural constituent of cytoskeleton			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					CATGTAAGGTGGGATGATGTC	0.592000													19	26					0	0	0.00121646	0	0
CTAGE1	64693	broad.mit.edu	37	18	19995558	19995558	+	Silent	SNP	G	G	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr18:19995558G>A	ENST00000391403.2	-	1	2320	c.2217C>T	c.(2215-2217)ttC>ttT	p.F739F		NM_172241.2	NP_758441.2	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	739	Pro-rich.					integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					GGGCTGGGGGGAAAAATGCAG	0.498000													15	11					0	0	0.00400662	0	0
SGCZ	137868	broad.mit.edu	37	8	13965704	13965704	+	Silent	SNP	C	C	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr8:13965704C>T	ENST00000382080.1	-	6	1303	c.588G>A	c.(586-588)ccG>ccA	p.P196P	SGCZ_ENST00000421524.2_Silent_p.P149P	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	183					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		CTCTGATGTGCGGCGTCTCCA	0.463000													29	36					0	0	0.00283554	0	0
SLC28A1	9154	broad.mit.edu	37	15	85467334	85467334	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr15:85467334C>T	ENST00000394573.1	+	12	1278	c.1076C>T	c.(1075-1077)tCc>tTc	p.S359F	SLC28A1_ENST00000537624.1_Missense_Mutation_p.S359F|SLC28A1_ENST00000537216.1_Missense_Mutation_p.S359F|SLC28A1_ENST00000538177.1_Missense_Mutation_p.S359F|SLC28A1_ENST00000286749.3_Missense_Mutation_p.S359F|SLC28A1_ENST00000537703.1_Missense_Mutation_p.S281F	NM_004213.3	NP_004204.3	O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	359					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GCCTACATCTCCTTTGGGGTA	0.582000													30	61					0	0	0.00209593	0	0
SLC28A1	9154	broad.mit.edu	37	15	85467335	85467335	+	Silent	SNP	C	C	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr15:85467335C>T	ENST00000394573.1	+	12	1279	c.1077C>T	c.(1075-1077)tcC>tcT	p.S359S	SLC28A1_ENST00000537624.1_Silent_p.S359S|SLC28A1_ENST00000537216.1_Silent_p.S359S|SLC28A1_ENST00000538177.1_Silent_p.S359S|SLC28A1_ENST00000286749.3_Silent_p.S359S|SLC28A1_ENST00000537703.1_Silent_p.S281S	NM_004213.3	NP_004204.3	O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	359					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CCTACATCTCCTTTGGGGTAG	0.587000													30	62					0	0	0.00209593	0	0
ABCA9	10350	broad.mit.edu	37	17	67047176	67047176	+	Nonsense_Mutation	SNP	A	A	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr17:67047176A>T	ENST00000340001.4	-	2	303	c.92T>A	c.(91-93)tTg>tAg	p.L31*	ABCA9_ENST00000495634.1_Nonsense_Mutation_p.L31*|ABCA9_ENST00000370732.2_Nonsense_Mutation_p.L31*|ABCA9_ENST00000453985.2_Nonsense_Mutation_p.L31*	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	31					transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					GCATACCAACAAGGTCTGTCT	0.378000													36	47					0	0	0.00428921	0	0
PRR16	51334	broad.mit.edu	37	5	120021815	120021815	+	Missense_Mutation	SNP	A	A	C			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr5:120021815A>C	ENST00000379551.2	+	3	614	c.257A>C	c.(256-258)cAc>cCc	p.H86P	PRR16_ENST00000407149.2_Missense_Mutation_p.H109P|PRR16_ENST00000505123.1_Missense_Mutation_p.H39P|PRR16_ENST00000446965.1_Missense_Mutation_p.H39P	NM_016644.1	NP_057728.1	Q569H4	PRR16_HUMAN	proline rich 16	109								p.H86L(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		CCCCCAGCACACCCGTCTGCT	0.527000													35	62					0	0	0.00327116	0	0
YLPM1	56252	broad.mit.edu	37	14	75283735	75283735	+	Silent	SNP	C	C	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr14:75283735C>T	ENST00000325680.7	+	14	5911	c.5787C>T	c.(5785-5787)atC>atT	p.I1929I	YLPM1_ENST00000238571.3_Silent_p.I1694I|YLPM1_ENST00000552421.1_Silent_p.I1223I	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	1734					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		TTCCCTTCATCATCCTGGATG	0.398000													15	14					0	0	0.00244969	0	0
SLC6A13	6540	broad.mit.edu	37	12	351819	351819	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr12:351819C>T	ENST00000343164.4	-	4	491	c.439G>A	c.(439-441)Gac>Aac	p.D147N	SLC6A13_ENST00000445055.2_Intron	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	147					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			CAGGGCAGGTCGATGGTGAAG	0.552000													9	17					0	0	0.000274275	0	0
PRSS38	339501	broad.mit.edu	37	1	228005003	228005003	+	Silent	SNP	G	G	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr1:228005003G>A	ENST00000366757.3	+	3	429	c.405G>A	c.(403-405)gtG>gtA	p.V135V		NM_183062.2	NP_898885.1	A1L453	PRS38_HUMAN	protease, serine, 38	135	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						TGAACAGGGTGATCCTGCACC	0.557000													32	61					0	0	0.00178596	0	0
CNBD2	140894	broad.mit.edu	37	20	34611616	34611616	+	Silent	SNP	G	G	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr20:34611616G>A	ENST00000373973.3	+	11	1535	c.1362G>A	c.(1360-1362)aaG>aaA	p.K454K	CNBD2_ENST00000349339.1_Silent_p.K450K|CNBD2_ENST00000538900.1_Intron					cyclic nucleotide binding domain containing 2																		GGATAAGGAAGGAAATATTTT	0.443000													39	50					0	0	0.00128727	0	0
WRAP53	55135	broad.mit.edu	37	17	7592120	7592120	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr17:7592120C>T	ENST00000316024.5	+	1	2502	c.154C>T	c.(154-156)Cgg>Tgg	p.R52W	WRAP53_ENST00000431639.2_Missense_Mutation_p.R52W|WRAP53_ENST00000396463.2_Missense_Mutation_p.R52W|WRAP53_ENST00000457584.2_Missense_Mutation_p.R52W|WRAP53_ENST00000534050.1_Missense_Mutation_p.R52W			Q9BUR4	WAP53_HUMAN	WD repeat containing, antisense to TP53	52	Pro-rich.				positive regulation of telomerase activity|telomere formation via telomerase	Cajal body|cytoplasm|telomerase holoenzyme complex	protein binding|RNA binding	p.R52R(1)		endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2)	18						GGATCCGCCCCGGTTGTCCCC	0.612000													46	62					0	0	0.00361006	0	0
RRM2B	50484	broad.mit.edu	37	8	103225069	103225069	+	Missense_Mutation	SNP	T	T	C			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr8:103225069T>C	ENST00000251810.3	-	8	1081	c.838A>G	c.(838-840)Att>Gtt	p.I280V	RRM2B_ENST00000395912.2_Missense_Mutation_p.I228V|RRM2B_ENST00000519317.1_Missense_Mutation_p.I68V|RRM2B_ENST00000519962.1_Intron	NM_001172478.1|NM_015713.4	NP_001165949.1|NP_056528.2	Q7LG56	RIR2B_HUMAN	ribonucleotide reductase M2 B (TP53 inducible)	280					deoxyribonucleoside diphosphate metabolic process|DNA repair|nucleobase, nucleoside and nucleotide interconversion	nucleoplasm	ribonucleoside-diphosphate reductase activity|transition metal ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	9	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000728)			TTCATCAAAATGCAATTCATT	0.323000								Modulation of nucleotide pools					7	21					0	0	0.00198382	0	0
DLEC1	9940	broad.mit.edu	37	3	38101312	38101312	+	Silent	SNP	C	C	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr3:38101312C>A	ENST00000308059.6	+	3	663	c.642C>A	c.(640-642)acC>acA	p.T214T	DLEC1_ENST00000452631.2_Silent_p.T214T|DLEC1_ENST00000346219.3_Silent_p.T214T			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	214					negative regulation of cell proliferation	cytoplasm		p.T214T(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		ATTACTACACCGATACAGTGC	0.493000													6	244					0.00198382	0.00675677	0.00198382	1	0
C11orf30	56946	broad.mit.edu	37	11	76255449	76255449	+	Silent	SNP	G	G	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr11:76255449G>A	ENST00000529032.1	+	18	2856	c.2856G>A	c.(2854-2856)caG>caA	p.Q952Q	C11orf30_ENST00000525038.1_Silent_p.Q953Q|C11orf30_ENST00000524490.1_Silent_p.Q854Q|C11orf30_ENST00000525919.1_Silent_p.Q953Q|C11orf30_ENST00000533248.1_Silent_p.Q861Q|C11orf30_ENST00000334736.3_Silent_p.Q952Q|C11orf30_ENST00000524767.1_Silent_p.Q967Q|C11orf30_ENST00000343878.3_Silent_p.Q952Q			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	952	Gln-rich.				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.Q952H(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						CTAAACAGCAGAAACTTAGCC	0.527000													23	46					0	0	0.00278032	0	0
DLGAP4	22839	broad.mit.edu	37	20	35060232	35060232	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr20:35060232G>A	ENST00000373913.3	+	3	592	c.112G>A	c.(112-114)Gag>Aag	p.E38K	DLGAP4_ENST00000339266.5_Missense_Mutation_p.E38K|DLGAP4_ENST00000401952.2_Missense_Mutation_p.E38K|DLGAP4_ENST00000373907.2_Missense_Mutation_p.E38K			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	38					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				GTCGCCCACGGAGGCCTTCGC	0.701000													16	24					0	0	0.000958276	0	0
ERP27	121506	broad.mit.edu	37	12	15087892	15087892	+	Missense_Mutation	SNP	G	G	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr12:15087892G>T	ENST00000266397.2	-	3	804	c.231C>A	c.(229-231)agC>agA	p.S77R		NM_152321.2	NP_689534.1	Q96DN0	ERP27_HUMAN	endoplasmic reticulum protein 27	77	Thioredoxin.					endoplasmic reticulum lumen				breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(3)|prostate(2)|skin(1)	19						TTTGCACCATGCTATGGAGTA	0.443000													12	29					1.08611e-07	3.77395e-07	0.000978159	1	0
LTBP3	4054	broad.mit.edu	37	11	65309152	65309152	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr11:65309152C>T	ENST00000301873.5	-	19	2912	c.2644G>A	c.(2644-2646)Gcc>Acc	p.A882T	LTBP3_ENST00000536982.1_Missense_Mutation_p.A508T|LTBP3_ENST00000530785.1_5'UTR|LTBP3_ENST00000532932.1_Missense_Mutation_p.A312T|LTBP3_ENST00000529189.1_5'UTR|LTBP3_ENST00000322147.4_Missense_Mutation_p.A882T	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	882	Cys-rich.|EGF-like 9; calcium-binding (Potential).					extracellular region	calcium ion binding|growth factor binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						TTCTTGCAGGCCCCATGGGGA	0.622000													24	32					0	0	0.00332997	0	0
TENM3	55714	broad.mit.edu	37	4	183673100	183673100	+	Silent	SNP	G	G	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr4:183673100G>A	ENST00000511685.1	+	20	3900	c.3777G>A	c.(3775-3777)ggG>ggA	p.G1259G	TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Silent_p.G1259G					teneurin transmembrane protein 3																		TCGTCGCAGGGACAGGGGAGC	0.537000													28	9					0	0	0.000878237	0	0
NR1H2	7376	broad.mit.edu	37	19	50881049	50881049	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr19:50881049C>T	ENST00000253727.5	+	4	338	c.103C>T	c.(103-105)Ccg>Tcg	p.P35S	NR1H2_ENST00000593926.1_Missense_Mutation_p.P35S|NR1H2_ENST00000411902.2_Missense_Mutation_p.P35S|NR1H2_ENST00000598168.1_Missense_Mutation_p.P35S|NR1H2_ENST00000542413.1_5'UTR|NR1H2_ENST00000599105.1_Missense_Mutation_p.P35S	NM_007121.5	NP_009052.3	P55055	NR1H2_HUMAN	nuclear receptor subfamily 1, group H, member 2	35					negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of pinocytosis|negative regulation of transcription, DNA-dependent|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	8		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		GGAGGAGGGTCCGGAGCCGTG	0.642000													28	38					0	0	0.00209593	0	0
CACNA1I	8911	broad.mit.edu	37	22	40056382	40056382	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr22:40056382C>T	ENST00000336649.4	+	18	2656	c.2656C>T	c.(2656-2658)Cag>Tag	p.Q886*	CACNA1I_ENST00000402142.3_Nonsense_Mutation_p.Q880*|CACNA1I_ENST00000401624.1_Nonsense_Mutation_p.Q880*|CACNA1I_ENST00000400164.3_Nonsense_Mutation_p.Q845*|CACNA1I_ENST00000407673.1_Nonsense_Mutation_p.Q845*|CACNA1I_ENST00000404898.1_Nonsense_Mutation_p.Q845*			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	880					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	GGACGAGGACCAGAGCTCATC	0.577000													14	17					0	0	0.000566183	0	0
PDGFRA	5156	broad.mit.edu	37	4	55144155	55144155	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr4:55144155G>A	ENST00000257290.5	+	14	2315	c.1984G>A	c.(1984-1986)Gga>Aga	p.G662R	FIP1L1_ENST00000507166.1_Missense_Mutation_p.G422R	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	662	Protein kinase.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	AAACTTGCTGGGAGCCTGCAC	0.478000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			18	27					0	0	0.000566183	0	0
LRRIQ4	344657	broad.mit.edu	37	3	169550902	169550902	+	Missense_Mutation	SNP	T	T	G			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr3:169550902T>G	ENST00000340806.6	+	4	1461	c.1461T>G	c.(1459-1461)tgT>tgG	p.C487W		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	487										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						AAGAAGTGTGTGCTGAAGGCA	0.418000													17	22					0	0	0.000566183	0	0
HTT	3064	broad.mit.edu	37	4	3158844	3158844	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr4:3158844C>T	ENST00000355072.5	+	28	3816	c.3671C>T	c.(3670-3672)tCc>tTc	p.S1224F		NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	1224					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		ACAAGTAAATCCTCATCACTG	0.388000													23	44					0	0	0.00188189	0	0
OTOF	9381	broad.mit.edu	37	2	26698904	26698904	+	Nonsense_Mutation	SNP	T	T	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr2:26698904T>A	ENST00000272371.2	-	24	2995	c.2869A>T	c.(2869-2871)Aag>Tag	p.K957*	OTOF_ENST00000402415.3_Nonsense_Mutation_p.K267*|OTOF_ENST00000403946.3_Nonsense_Mutation_p.K957*|OTOF_ENST00000339598.3_Nonsense_Mutation_p.K210*|OTOF_ENST00000338581.6_Nonsense_Mutation_p.K210*	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	957	C2 3.				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AACGCCTGCTTCTCTGTGGGG	0.647000													14	18					0	0	0.00074312	0	0
EEF1A1	1915	broad.mit.edu	37	6	74229640	74229640	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr6:74229640C>T	ENST00000316292.9	-	1	1101	c.110G>A	c.(109-111)aGa>aAa	p.R37K	EEF1A1_ENST00000331523.2_Missense_Mutation_p.R37K|EEF1A1_ENST00000309268.6_Missense_Mutation_p.R37K	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	37						cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						TTCAATGGTTCTTTTGTCGAT	0.408000													6	51					0	0	0.00116845	0	0
ASXL3	80816	broad.mit.edu	37	18	31320017	31320017	+	Missense_Mutation	SNP	A	A	C			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr18:31320017A>C	ENST00000269197.5	+	11	2649	c.2649A>C	c.(2647-2649)ttA>ttC	p.L883F		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	883					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CATTGGAATTATCTGTCTTTT	0.353000													41	69					0	0	0.00361006	0	0
APOB	338	broad.mit.edu	37	2	21228633	21228633	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr2:21228633G>A	ENST00000233242.1	-	26	11234	c.11107C>T	c.(11107-11109)Cgt>Tgt	p.R3703C		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3703					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GTTGAAACACGAAGATGCTGT	0.413000													260	317					0	0	0.00361006	0	0
USP10	9100	broad.mit.edu	37	16	84778424	84778424	+	Missense_Mutation	SNP	A	A	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr16:84778424A>T	ENST00000219473.7	+	4	450	c.337A>T	c.(337-339)Atc>Ttc	p.I113F	USP10_ENST00000562743.1_3'UTR|USP10_ENST00000570191.1_Missense_Mutation_p.I117F	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	113					DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						CTATGGCTCCATCGACTGCCA	0.488000													51	14					0	0	0.00361006	0	0
ZNF711	7552	broad.mit.edu	37	X	84526085	84526085	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chrX:84526085G>A	ENST00000360700.4	+	10	2561	c.1675G>A	c.(1675-1677)Ggt>Agt	p.G559S	ZNF711_ENST00000542798.1_Missense_Mutation_p.G355S|ZNF711_ENST00000373165.3_Missense_Mutation_p.G513S|ZNF711_ENST00000395402.1_Missense_Mutation_p.G521S|ZNF711_ENST00000276123.3_Missense_Mutation_p.G513S			Q9Y462	ZN711_HUMAN	zinc finger protein 711	513					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						GTGTGGGAAGGGTTTTCGACA	0.413000													30	1					0	0	0.00178596	0	0
CAMSAP2	23271	broad.mit.edu	37	1	200801331	200801331	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr1:200801331C>T	ENST00000358823.2	+	5	919	c.649C>T	c.(649-651)Cgt>Tgt	p.R217C	CAMSAP2_ENST00000413307.2_Missense_Mutation_p.R217C|CAMSAP2_ENST00000236925.4_Missense_Mutation_p.R228C	NM_203459.1	NP_982284.1	Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	228	CH.					cytoplasm|microtubule	protein binding										ATCGTAGGCTCGTTATCGGAA	0.343000													20	39					0	0	0.00229938	0	0
FAT3	120114	broad.mit.edu	37	11	92534248	92534248	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr11:92534248C>T	ENST00000298047.6	+	9	8086	c.8069C>T	c.(8068-8070)tCc>tTc	p.S2690F	FAT3_ENST00000525166.1_Missense_Mutation_p.S2540F|FAT3_ENST00000409404.2_Missense_Mutation_p.S2690F			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2690	Cadherin 24.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GTAAAGCACTCCCTCATTCCT	0.448000										TCGA Ovarian(4;0.039)			245	86					0	0	0.00361006	0	0
ATXN1	6310	broad.mit.edu	37	6	16327897	16327897	+	Missense_Mutation	SNP	C	C	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr6:16327897C>A	ENST00000244769.4	-	8	1581	c.645G>T	c.(643-645)caG>caT	p.Q215H	ATXN1_ENST00000436367.1_Missense_Mutation_p.Q215H	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	215	Poly-Gln.				cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association	p.Q215H(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				gctgctgctgctgctgctgct	0.667000													5	14					1.23904e-05	4.27655e-05	0.000602214	1	0
COX11	1353	broad.mit.edu	37	17	53045916	53045916	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr17:53045916C>T	ENST00000299335.3	-	1	230	c.92G>A	c.(91-93)aGg>aAg	p.R31K	COX11_ENST00000571584.1_Missense_Mutation_p.R31K	NM_004375.3	NP_004366.1	Q9Y6N1	COX11_HUMAN	cytochrome c oxidase assembly homolog 11 (yeast)	31					respiratory chain complex IV assembly|respiratory gaseous exchange	integral to membrane|mitochondrial inner membrane	copper ion binding|cytochrome-c oxidase activity|electron carrier activity			endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|prostate(1)	9						CGGCTCTACCCTCTCTGCAGC	0.632000													42	98					0	0	0.00170553	0	0
FAT4	79633	broad.mit.edu	37	4	126412493	126412493	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr4:126412493C>T	ENST00000394329.3	+	17	14529	c.14516C>T	c.(14515-14517)tCt>tTt	p.S4839F	FAT4_ENST00000335110.5_Missense_Mutation_p.S3080F	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4839					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CCAGAATCCTCTTCTGATAGT	0.468000													29	26					0	0	0.00106085	0	0
IGLV7-43	28776	broad.mit.edu	37	22	22749728	22749728	+	RNA	SNP	A	A	C			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr22:22749728A>C	ENST00000390298.2	+	0	286																											CCCGGTTCTCAGGCTCCCTCC	0.552000													40	41					0	0	0.00222228	0	0
PEAR1	375033	broad.mit.edu	37	1	156880530	156880530	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr1:156880530C>T	ENST00000338302.3	+	16	2171	c.1946C>T	c.(1945-1947)tCc>tTc	p.S649F	PEAR1_ENST00000292357.7_Missense_Mutation_p.S649F			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	649	EGF-like 8.					integral to membrane				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCCGACTGCTCCCAGCGTATG	0.617000													28	68					0	0	0.00111076	0	0
NLRP11	204801	broad.mit.edu	37	19	56320962	56320962	+	Silent	SNP	G	G	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr19:56320962G>A	ENST00000443188.1	-	5	1724	c.1014C>T	c.(1012-1014)gtC>gtT	p.V338V	NLRP11_ENST00000589824.2_Silent_p.V338V|NLRP11_ENST00000589093.1_Silent_p.V338V|NLRP11_ENST00000592953.1_Silent_p.V239V|NLRP11_ENST00000360133.3_Silent_p.V338V	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	338	NACHT.						ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		ATAAGATGGCGACTCGGCACA	0.532000													22	19					0	0	0.00188189	0	0
FAM9C	171484	broad.mit.edu	37	X	13056599	13056599	+	Silent	SNP	C	C	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chrX:13056599C>T	ENST00000333995.3	-	7	592	c.462G>A	c.(460-462)aaG>aaA	p.K154K	FAM9C_ENST00000542843.1_3'UTR|FAM9C_ENST00000380625.3_Silent_p.K154K			Q8IZT9	FAM9C_HUMAN	family with sequence similarity 9, member C	154						nucleus				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(1)	5						GTTGCCACCTCTTTTGTTGCT	0.323000													30	7					0	0	0.001512	0	0
CLSTN2	64084	broad.mit.edu	37	3	140178487	140178487	+	Silent	SNP	C	C	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr3:140178487C>T	ENST00000458420.3	+	7	1288	c.1098C>T	c.(1096-1098)gtC>gtT	p.V366V	RP11-68L1.2_ENST00000503357.1_RNA	NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	366			V -> I (in dbSNP:rs7632885).		homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						GTGCCAAAGTCCCCGATGGGA	0.572000										HNSCC(16;0.037)			20	18					0	0	0.00121646	0	0
ATP8A1	10396	broad.mit.edu	37	4	42466710	42466710	+	Silent	SNP	G	G	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr4:42466710G>A	ENST00000381668.5	-	27	2847	c.2616C>T	c.(2614-2616)atC>atT	p.I872I	ATP8A1_ENST00000264449.10_Silent_p.I857I	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	872					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	CTATTACCTCGATAATATAGA	0.299000													27	42					0	0	0.00395357	0	0
TMPRSS9	360200	broad.mit.edu	37	19	2399055	2399055	+	Silent	SNP	C	C	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr19:2399055C>T	ENST00000332578.3	+	3	276	c.276C>T	c.(274-276)caC>caT	p.H92H		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	92					proteolysis	integral to plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCAGCTGCACTTTCTGCTGC	0.632000													8	15					0	0	0.000673444	0	0
ALPK2	115701	broad.mit.edu	37	18	56184333	56184333	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr18:56184333C>T	ENST00000361673.3	-	9	5960	c.5747G>A	c.(5746-5748)gGt>gAt	p.G1916D		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1916	Alpha-type protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						GGCGATCTGACCACGCAGGCG	0.542000													22	34					0	0	0.00229938	0	0
SPATS2L	26010	broad.mit.edu	37	2	201342669	201342669	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr2:201342669C>T	ENST00000409988.3	+	13	2115	c.1592C>T	c.(1591-1593)tCa>tTa	p.S531L	SPATS2L_ENST00000460095.1_3'UTR|SPATS2L_ENST00000451764.2_Missense_Mutation_p.S531L|SPATS2L_ENST00000409718.1_Missense_Mutation_p.S531L|SPATS2L_ENST00000409755.3_Missense_Mutation_p.S561L|SPATS2L_ENST00000409385.1_Missense_Mutation_p.S471L|SPATS2L_ENST00000409140.3_Missense_Mutation_p.S531L|SPATS2L_ENST00000409151.1_Missense_Mutation_p.S539L|SPATS2L_ENST00000360760.5_Missense_Mutation_p.S462L|SPATS2L_ENST00000358677.4_Missense_Mutation_p.S531L	NM_001100422.1	NP_001093892.1	Q9NUQ6	SPS2L_HUMAN	spermatogenesis associated, serine-rich 2-like	531						cytoplasm|nucleolus				endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	10						GGTAGGGTTTCACAGTGCAAT	0.607000													16	17					0	0	0.000566183	0	0
NCDN	23154	broad.mit.edu	37	1	36028075	36028075	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr1:36028075C>T	ENST00000373243.2	+	4	1609	c.1226C>T	c.(1225-1227)tCc>tTc	p.S409F	NCDN_ENST00000356090.4_Missense_Mutation_p.S409F|NCDN_ENST00000373253.3_Missense_Mutation_p.S392F	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN	neurochondrin	409					neuron projection development	cytosol|dendrite|neuronal cell body				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GAGACCTCATCCTTGCGTAAG	0.627000													45	30					0	0	0.00361006	0	0
KRT4	3851	broad.mit.edu	37	12	53207674	53207674	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr12:53207674C>T	ENST00000551956.1	-	1	661	c.169G>A	c.(169-171)Ggg>Agg	p.G57R	KRT4_ENST00000293774.4_Missense_Mutation_p.G131R|KRT4_ENST00000458244.2_Intron			B4DRS2	B4DRS2_HUMAN	keratin 4	57						keratin filament	structural molecule activity			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						CTTTTGTTCCCCCTGAGGTTG	0.582000													59	77					0	0	0.00361006	0	0
CTSE	1510	broad.mit.edu	37	1	206331020	206331020	+	Splice_Site	SNP	G	G	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr1:206331020G>A	ENST00000361052.3	+	9	1159		c.e9-1		CTSE_ENST00000432969.2_Splice_Site|CTSE_ENST00000358184.2_Splice_Site|CTSE_ENST00000360218.2_Splice_Site			P14091	CATE_HUMAN	cathepsin E						antigen processing and presentation of exogenous peptide antigen via MHC class II|digestion|proteolysis	endosome	aspartic-type endopeptidase activity			endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3)	16			BRCA - Breast invasive adenocarcinoma(75;0.0754)			CCAACCCACAGGACTTCGTGG	0.567000													77	237					0	0	0.00361006	0	0
MED13L	23389	broad.mit.edu	37	12	116429502	116429502	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr12:116429502G>A	ENST00000281928.3	-	17	3463	c.3257C>T	c.(3256-3258)cCc>cTc	p.P1086L		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1086					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		TGTAGTAGAGGGGGTGGAGGC	0.587000													23	30					0	0	0.00188189	0	0
BCAN	63827	broad.mit.edu	37	1	156627951	156627951	+	Missense_Mutation	SNP	C	C	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr1:156627951C>A	ENST00000329117.4	+	12	2661	c.2325C>A	c.(2323-2325)gaC>gaA	p.D775E	BCAN_ENST00000496038.1_3'UTR|RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	775	C-type lectin.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGCAGCCTGACAGCTACTTCC	0.587000											OREG0013880	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	27	54					9.39395e-14	3.27519e-13	0.00106085	1	0
RPS6KA3	6197	broad.mit.edu	37	X	20211670	20211670	+	Silent	SNP	T	T	C			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chrX:20211670T>C	ENST00000379565.3	-	7	735	c.528A>G	c.(526-528)gaA>gaG	p.E176E	RPS6KA3_ENST00000540702.1_Silent_p.E148E|RPS6KA3_ENST00000544447.1_Silent_p.E148E|RPS6KA3_ENST00000379548.4_Silent_p.E147E	NM_004586.2	NP_004577.1	P51812	KS6A3_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 3	176	Protein kinase 1.				axon guidance|central nervous system development|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|skeletal system development|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1)	41						CAAGTGCAAGTTCAGCCAAGT	0.289000													27	3					0	0	0.0024448	0	0
LHFPL5	222662	broad.mit.edu	37	6	35773635	35773635	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr6:35773635G>A	ENST00000360215.1	+	1	565	c.188G>A	c.(187-189)gGc>gAc	p.G63D	LHFPL5_ENST00000373853.1_Missense_Mutation_p.G63D	NM_182548.3	NP_872354.1	Q8TAF8	TMHS_HUMAN	lipoma HMGIC fusion partner-like 5	63						integral to membrane				endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1)	20						GGCTACTTCGGCCTTTTCTCC	0.592000													71	82					0	0	0.00361006	0	0
FCRL4	83417	broad.mit.edu	37	1	157556142	157556142	+	Silent	SNP	C	C	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr1:157556142C>T	ENST00000271532.1	-	6	1086	c.951G>A	c.(949-951)ggG>ggA	p.G317G	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	317	Ig-like C2-type 4.					integral to membrane|plasma membrane	receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				ATGTGGTATCCCCTGTGCCTT	0.617000													74	61					0	0	0.00361006	0	0
FLG2	388698	broad.mit.edu	37	1	152323828	152323828	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr1:152323828C>T	ENST00000388718.5	-	3	6506	c.6434G>A	c.(6433-6435)gGa>gAa	p.G2145E	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2145							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)			ATGTATAGTTCCCTGTCTCCC	0.507000													297	203					0	0	0.00361006	0	0
MTUS2	23281	broad.mit.edu	37	13	29600485	29600485	+	Silent	SNP	A	A	G			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr13:29600485A>G	ENST00000431530.3	+	1	1738	c.1680A>G	c.(1678-1680)acA>acG	p.T560T		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	550						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						AGCCTACAACACCCAGTAGCA	0.502000													42	66					0	0	0.00222228	0	0
ZIC4	84107	broad.mit.edu	37	3	147120535	147120535	+	Missense_Mutation	SNP	C	C	T	rs148365070	by1000genomes	TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr3:147120535C>T	ENST00000383075.3	-	2	562	c.50G>A	c.(49-51)cGa>cAa	p.R17Q	ZIC4_ENST00000473123.1_Missense_Mutation_p.R17Q|ZIC4_ENST00000425731.3_Missense_Mutation_p.R55Q|ZIC4_ENST00000525172.2_Missense_Mutation_p.R67Q|ZIC4_ENST00000484399.1_Missense_Mutation_p.R17Q|ZIC4_ENST00000491672.1_Missense_Mutation_p.R17Q	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	17						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						AAGAGTGTTTCGGTAAAGCCG	0.353000													56	85					0	0	0.00361006	0	0
PNN	5411	broad.mit.edu	37	14	39647049	39647049	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr14:39647049C>T	ENST00000216832.4	+	6	494	c.427C>T	c.(427-429)Cgg>Tgg	p.R143W	PNN_ENST00000553331.1_Missense_Mutation_p.P111L	NM_002687.3	NP_002678.2	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	143	Necessary for interaction with RNPS1.|Necessary for mediating alternative 5' splicing.				cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck	DNA binding|protein binding|structural molecule activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		CTTTAGGAACCGGCGAATATT	0.348000													147	254					0	0	0.00361006	0	0
DNAH9	1770	broad.mit.edu	37	17	11687826	11687826	+	Silent	SNP	C	C	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr17:11687826C>T	ENST00000262442.3	+	41	8099	c.8031C>T	c.(8029-8031)ttC>ttT	p.F2677F	DNAH9_ENST00000454412.2_Silent_p.F2677F	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2677	AAA 3 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ACTACATCTTCAACCTCAGAG	0.478000													68	80					0	0	0.00361006	0	0
C1orf168	199920	broad.mit.edu	37	1	57257803	57257803	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr1:57257803G>A	ENST00000343433.6	-	2	763	c.683C>T	c.(682-684)cCa>cTa	p.P228L	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	228										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						CTCAGGAGGTGGGTTTTCCCA	0.522000													52	60					0	0	0.00361006	0	0
HIST2H2BB	338391	broad.mit.edu	37	1	149378172	149378172	+	RNA	SNP	C	C	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr1:149378172C>T	ENST00000415338.1	-	0	1061																											TCTGGACCGTCCCCTGTCCAC	0.542000													12	39					0	0	0.00185496	0	0
PLRG1	5356	broad.mit.edu	37	4	155465644	155465644	+	Missense_Mutation	SNP	G	G	A	rs114473975	byFrequency	TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr4:155465644G>A	ENST00000499023.2	-	7	673	c.547C>T	c.(547-549)Cct>Tct	p.P183S	PLRG1_ENST00000393905.2_Missense_Mutation_p.P183S|PLRG1_ENST00000302078.5_Missense_Mutation_p.P174S	NM_001201564.1|NM_002669.3	NP_001188493.1|NP_002660.1	O43660	PLRG1_HUMAN	pleiotropic regulator 1	183						catalytic step 2 spliceosome|nuclear speck	protein binding|signal transducer activity|transcription corepressor activity	p.P183S(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1)	22	all_hematologic(180;0.215)	Renal(120;0.0854)				GGCATTGTAGGGGCTTTTTTA	0.403000													30	46					0	0	0.0024448	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654496	38654496	+	RNA	SNP	C	C	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr10:38654496C>T	ENST00000494540.1	+	0	663					NR_003086.1																						AACCCTACAGCTCTTCCAAAT	0.488000													13	6					0	0	0.00244969	0	0
WDR25	79446	broad.mit.edu	37	14	100992260	100992260	+	Silent	SNP	C	C	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr14:100992260C>T	ENST00000335290.6	+	5	1381	c.1155C>T	c.(1153-1155)ctC>ctT	p.L385L	WDR25_ENST00000554998.1_Silent_p.L385L|WDR25_ENST00000542471.2_Silent_p.L128L|WDR25_ENST00000402312.3_Silent_p.L385L|WDR25_ENST00000557502.1_3'UTR	NM_024515.4	NP_078791.3	Q64LD2	WDR25_HUMAN	WD repeat domain 25	385										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1)	20		Melanoma(154;0.212)				TCCTGTTCCTCCGGGAAGGCT	0.597000													15	26					0	0	0.00316338	0	0
PTPRC	5788	broad.mit.edu	37	1	198703491	198703491	+	Silent	SNP	G	G	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr1:198703491G>A	ENST00000367376.2	+	22	2379	c.2208G>A	c.(2206-2208)agG>agA	p.R736R	PTPRC_ENST00000348564.6_Silent_p.R577R|PTPRC_ENST00000594404.1_Silent_p.R575R|PTPRC_ENST00000352140.3_Silent_p.R688R|PTPRC_ENST00000442510.2_Silent_p.R738R	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	736	Tyrosine-protein phosphatase 1.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						ATTTCTGGAGGATGATTTGGG	0.378000													391	271					0	0	0.00361006	0	0
CTD-2503O16.4	0	broad.mit.edu	37	5	74285945	74285946	+	RNA	INS	-	-	TT	rs138935859		TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr5:74285945_74285946insTT	ENST00000505200.1	-	0	212																											taattgctttcttttttttttt	0.381													2	4	---	---	---	---					
TBC1D4	9882	broad.mit.edu	37	13	75873646	75873646	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr13:75873646delA	ENST00000377636.3	-	17	3322	c.2976delT	c.(2974-2976)ttfs	p.F992fs	TBC1D4_ENST00000431480.2_Frame_Shift_Del_p.F984fs|TBC1D4_ENST00000377625.2_Frame_Shift_Del_p.F929fs|TBC1D4_ENST00000425511.1_Frame_Shift_Del_p.F156fs|TBC1D4_ENST00000478591.1_5'UTR	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	992	Rab-GAP TBC.					cytoplasm	Rab GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		TCAGGAGGTTAAACAGTGACA	0.463													36	39	---	---	---	---					
LRRC37A16P	651250	broad.mit.edu	37	17	66141017	66141017	+	RNA	DEL	C	C	-			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr17:66141017delC	ENST00000590019.1	-	0	70																											AAGATTTCTACAAAAAAAAAA	0.323													7	117	---	---	---	---					
