Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
GYS1	2997	broad.mit.edu	37	19	49477944	49477944	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr19:49477944G>A	uc002plp.3	-	10	1596	c.1355C>T	c.(1354-1356)tCc>tTc	p.S452F	GYS1_uc010emm.3_Missense_Mutation_p.S388F|GYS1_uc010xzz.2_Missense_Mutation_p.S372F|GYS1_uc010yaa.1_Non-coding_Transcript|Mir_324_uc021uxe.1_5'Flank	NM_002103	NP_002094	P13807	GYS1_HUMAN	Homo sapiens glycogen synthase 1 (muscle) (GYS1), transcript variant 1, mRNA.	452					glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		GGGGTCTGAGGAGTCATCCAG	0.587000														41			24		0	0	0.000117367	0	0
PTPN5	84867	broad.mit.edu	37	11	18750513	18750513	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr11:18750513C>T	uc001mpd.3	-	14	2097	c.1666G>A	c.(1666-1668)Gaa>Aaa	p.E556K	IGSF22_uc009yht.2_5'Flank|IGSF22_uc001mpa.2_5'Flank|PTPN5_uc001mpb.3_Missense_Mutation_p.E524K|PTPN5_uc001mpc.3_Missense_Mutation_p.E556K|PTPN5_uc010rdj.2_Missense_Mutation_p.E500K|PTPN5_uc001mpf.3_Missense_Mutation_p.E532K|PTPN5_uc001mpe.3_Missense_Mutation_p.E524K|PTPN5_uc010rdk.2_Missense_Mutation_p.E501K	NM_006906	NP_116170	P54829	PTN5_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched) (PTPN5), transcript variant 1, mRNA.	556						integral to membrane	phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						AGCTGCTTTTCGTAGAGGCTC	0.622000														31			34		0	0	0.000191422	0	0
HOXC6	3223	broad.mit.edu	37	12	54423524	54423524	+	Silent	SNP	C	T	T			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr12:54423524C>T	uc001sev.3	+	1	598	c.486C>T	c.(484-486)ttC>ttT	p.F162F	HOXC6_uc001ses.3_Silent_p.F80F|HOXC5_uc001set.3_Intron|HOXC4_uc001seu.3_Intron	NM_004503	NP_710160	P09630	HXC6_HUMAN	Homo sapiens homeobox C6 (HOXC6), transcript variant 1, mRNA.	162					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						AATTTCACTTCAATCGCTACC	0.607000														82			56		0	0	0.000147903	0	0
TTC17	55761	broad.mit.edu	37	11	43471746	43471746	+	Silent	SNP	C	T	T			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr11:43471746C>T	uc001mxi.3	+	19	2971	c.2901C>T	c.(2899-2901)tcC>tcT	p.S967S	TTC17_uc010rfj.2_Silent_p.S967S|TTC17_uc001mxl.3_Silent_p.S23S	NM_018259	NP_060729	Q96AE7	TTC17_HUMAN	Homo sapiens tetratricopeptide repeat domain 17 (TTC17), mRNA.	967							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						ATGGGGTTTCCAACCGAGCCA	0.517000														39			13		0	0	0.000219431	0	0
JAKMIP1	152789	broad.mit.edu	37	4	6064049	6064049	+	Missense_Mutation	SNP	C	A	A	rs146441068		TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr4:6064049C>A	uc010idb.1	-	9	2036	c.1550G>T	c.(1549-1551)aGg>aTg	p.R517M	JAKMIP1_uc010idc.1_Missense_Mutation_p.R332M|JAKMIP1_uc010idd.1_Intron|JAKMIP1_uc003giu.4_Missense_Mutation_p.R517M|JAKMIP1_uc011bwc.2_Missense_Mutation_p.R352M|JAKMIP1_uc003giv.4_Missense_Mutation_p.R517M|JAKMIP1_uc010ide.3_Missense_Mutation_p.R517M	NM_001099433	NP_001092903	Q96N16	JKIP1_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 1 (JAKMIP1), transcript variant 1, mRNA.	517	Mediates interaction with TYK2 and GABBR1.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CCGGGCCTCCCTCTCAGCGTC	0.667000														63			31		3.03874e-20	8.73131e-19	0.00058488	1	0
PTEN	5728	broad.mit.edu	37	10	89692922	89692922	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr10:89692922T>C	uc001kfb.3	+	4	1438	c.406T>C	c.(406-408)Tgt>Cgt	p.C136R	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	136	Phosphatase tensin-type.		C -> Y (in CD; loss of phosphatase activity towards Ins(1,3,4,5)P3).		T cell receptor signaling pathway|activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development	PML body|cytosol|internal side of plasma membrane	PDZ domain binding|anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.C136R(9)|p.C136Y(8)|p.I135fs*44(6)|p.C136F(5)|p.?(5)|p.R55fs*1(5)|p.C136fs*1(4)|p.I135K(3)|p.I135fs*45(3)|p.I135V(2)|p.Y27_N212>Y(2)|p.A121_F145del(2)|p.I135_A137>T(2)|p.I135fs*6(2)|p.Y27fs*1(2)|p.I135fs*12(1)|p.T131fs*42(1)|p.C136_A137insGM(1)|p.I135del(1)|p.F56fs*2(1)|p.I135M(1)|p.C136W(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TGTAATGATATGTGCATATTT	0.388000		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				13			40		0	0	0.000270559	0	0
OR5K3	403277	broad.mit.edu	37	3	98110314	98110314	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr3:98110314G>A	uc011bgw.2	+	0	805	c.805G>A	c.(805-807)Gat>Aat	p.D269N		NM_001005516	NP_001005516	A6NET4	OR5K3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily K, member 3 (OR5K3), mRNA.	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						AGGGGATAAAGATATACCTGT	0.299000														5			25		0	0	0.000375601	0	0
CYP4F3	4051	broad.mit.edu	37	19	15757879	15757879	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr19:15757879G>A	uc010xok.2	+	3	411	c.361G>A	c.(361-363)Gac>Aac	p.D121N	CYP4F3_uc010xol.2_Missense_Mutation_p.D121N|CYP4F3_uc002nbj.3_Missense_Mutation_p.D121N|CYP4F3_uc010xom.2_5'UTR|CYP4F3_uc002nbk.3_Missense_Mutation_p.D121N|CYP4F3_uc010xon.2_5'Flank	NM_001199208	NP_001186137	Q08477	CP4F3_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 3 (CYP4F3), transcript variant 2, mRNA.	121					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						TGTACCAAAGGACAAGGTCTT	0.577000														41			36		0	0	0.000319135	0	0
NHSL2	340527	broad.mit.edu	37	X	71358756	71358756	+	Missense_Mutation	SNP	G	A	A	rs138787811	byFrequency	TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chrX:71358756G>A	uc011mqa.2	+	5	1358	c.1358G>A	c.(1357-1359)gGg>gAg	p.G453E	NHSL2_uc004eak.1_Missense_Mutation_p.G87E|NHSL2_uc010nli.2_Missense_Mutation_p.G222E	NM_001013627	NP_001013649	F5H593	F5H593_HUMAN	Homo sapiens NHS-like 2 (NHSL2), mRNA.	453										NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					GGATGCAGTGGGTCAGCTGGC	0.557000														3			13		0	0	0.00010058	0	0
CENPE	1062	broad.mit.edu	37	4	104063010	104063010	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr4:104063010T>C	uc003hxb.1	-	34	5450	c.5360A>G	c.(5359-5361)cAg>cGg	p.Q1787R	CENPE_uc003hxc.1_Missense_Mutation_p.Q1762R|CENPE_uc003hxd.1_5'Flank	NM_001813	NP_001804	Q02224	CENPE_HUMAN	Homo sapiens centromere protein E, 312kDa (CENPE), mRNA.	1787					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		AATAGTTTCCTGCTGCTCTTT	0.299000														27			31		0	0	0.000109025	0	0
LTB	4050	broad.mit.edu	37	6	31550182	31550182	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr6:31550182C>T	uc003nuk.3	-	0	21	c.13G>A	c.(13-15)Ggg>Agg	p.G5R	LTB_uc003nul.3_Missense_Mutation_p.G5R	NM_002341	NP_002332	Q06643	TNFC_HUMAN	Homo sapiens lymphotoxin beta (TNF superfamily, member 3) (LTB), transcript variant 1, mRNA.	5					cell-cell signaling|immune response|positive regulation of interleukin-12 biosynthetic process|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	9					Infliximab(DB00065)|Simvastatin(DB00641)	CCCTCCAGCCCCAGTGCCCCC	0.652000														18			24		0	0	0.000117367	0	0
ADAM30	11085	broad.mit.edu	37	1	120437782	120437783	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr1:120437782_120437783GG>TT	uc001eij.3	-	0	1365_1366	c.1177_1178CC>AA	c.(1177-1179)cca>AAa	p.P393K		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA.	393	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		ACCTAGTCCTGGGATATTATTT	0.411000														849			12		0	0	6.4e-05	0	0
CEP41	95681	broad.mit.edu	37	7	130038776	130038777	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr7:130038776_130038777GG>TT	uc003vpz.3	-	10	1124_1125	c.1077_1078CC>AA	c.(1075-1080)ccccgc>ccAAgc	p.R360S	CEP41_uc003vpy.3_Missense_Mutation_p.R122S|CEP41_uc010lmf.3_Missense_Mutation_p.R157S|CEP41_uc003vqa.3_Missense_Mutation_p.R288S|CEP41_uc011kpg.2_Missense_Mutation_p.R272S	NM_018718	NP_061188	Q9BYV8	CEP41_HUMAN	Homo sapiens centrosomal protein 41kDa (CEP41), mRNA.	360					G2/M transition of mitotic cell cycle	centrosome|cytosol											CTGAGGGAGCGGGGGTTTGAGT	0.559000														669			14		0	0	6.4e-05	0	0
SPINLW1-WFDC6	100526773	broad.mit.edu	37	20	44171395	44171395	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr20:44171395C>T	uc010zxc.2	-	2	404	c.335G>A	c.(334-336)gGa>gAa	p.G112E	SPINLW1-WFDC6_uc002xou.3_Missense_Mutation_p.G112E|SPINLW1-WFDC6_uc002xov.2_3'UTR	NM_001198986	NP_001185915	A6PVD6	A6PVD6_HUMAN	Homo sapiens SPINLW1-WFDC6 readthrough (SPINLW1-WFDC6), mRNA.	112						extracellular region	serine-type endopeptidase inhibitor activity										GTTATTGTTTCCCTGGCAGCC	0.468000														84			57		0	0	0.000147903	0	0
GLT25D1	79709	broad.mit.edu	37	19	17678331	17678331	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr19:17678331G>C	uc002nhc.1	+	3	618	c.606G>C	c.(604-606)tgG>tgC	p.W202C	GLT25D1_uc010eax.1_5'Flank	NM_024656	NP_078932	Q8NBJ5	GT251_HUMAN	Homo sapiens glycosyltransferase 25 domain containing 1 (GLT25D1), mRNA.	202					lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen	procollagen galactosyltransferase activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	14						CCAACTTCTGGTGTGGAATGA	0.592000														19			5		0	0	3.59834e-05	0	0
FAM71B	153745	broad.mit.edu	37	5	156589904	156589905	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr5:156589904_156589905CC>AA	uc003lwn.3	-	1	1471_1472	c.1371_1372GG>TT	c.(1369-1374)gcgggg>gcTTgg	p.G458W		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	Homo sapiens family with sequence similarity 71, member B (FAM71B), mRNA.	458						nucleus		p.A457A(2)		NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTCTTGTCCCCCGCTCTCCTGC	0.480000														359			9		0	0	6.4e-05	0	0
CRISP2	7180	broad.mit.edu	37	6	49665657	49665657	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr6:49665657G>A	uc003ozn.2	-	7	667	c.431C>T	c.(430-432)tCg>tTg	p.S144L	CRISP2_uc003ozr.2_Missense_Mutation_p.S144L|CRISP2_uc003ozo.2_Missense_Mutation_p.S144L|CRISP2_uc003ozm.2_Missense_Mutation_p.S144L|CRISP2_uc003ozp.2_Missense_Mutation_p.S144L|CRISP2_uc003ozq.2_Missense_Mutation_p.S144L|CRISP2_uc003ozl.2_Missense_Mutation_p.S144L	NM_001142417	NP_003287	P16562	CRIS2_HUMAN	Homo sapiens cysteine-rich secretory protein 2 (CRISP2), transcript variant 4, mRNA.	144						extracellular space				kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			CTGGTAAGTCGAGTACCAAAC	0.313000														62			38		0	0	0.000374591	0	0
CD53	963	broad.mit.edu	37	1	111437611	111437611	+	Silent	SNP	C	A	A			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr1:111437611C>A	uc001dzw.3	+	5	528	c.357C>A	c.(355-357)acC>acA	p.T119T	CD53_uc001dzx.3_Silent_p.T119T|CD53_uc010owa.2_Intron	NM_001040033	NP_001035122	P19397	CD53_HUMAN	Homo sapiens CD53 molecule (CD53), transcript variant 1, mRNA.	119					signal transduction	integral to membrane|plasma membrane		p.T119T(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	17		all_cancers(81;1.06e-05)|all_epithelial(167;1.95e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0264)|Colorectal(144;0.0375)|all cancers(265;0.11)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.141)|LUSC - Lung squamous cell carcinoma(189;0.144)		AGGGTCTGACCGACAGCATCC	0.507000														66			36		1.67305e-13	4.7106e-12	0.000228196	1	0
FAT3	120114	broad.mit.edu	37	11	92577244	92577245	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr11:92577244_92577245GG>TT	uc001pdj.4	+	17	10728_10729	c.10711_10712GG>TT	c.(10711-10713)ggg>TTg	p.G3571L	FAT3_uc001pdi.4_Missense_Mutation_p.G11L	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	3571	Cadherin 33.				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)				TGGGGTCATTGGGAAGATTCAT	0.475000										TCGA Ovarian(4;0.039)				517			10		0	0	6.4e-05	0	0
FBXL13	222235	broad.mit.edu	37	7	102518846	102518846	+	Silent	SNP	C	T	T			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr7:102518846C>T	uc003vaq.2	-	14	1867	c.1440G>A	c.(1438-1440)agG>agA	p.R480R	FBXL13_uc010liq.1_Intron|FBXL13_uc010lir.1_Silent_p.R480R|FBXL13_uc003var.2_Non-coding_Transcript|FBXL13_uc003vas.2_Silent_p.R480R	NM_145032	NP_659469	Q8NEE6	FXL13_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 13 (FBXL13), transcript variant 1, mRNA.	480										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						GCTCTCTTATCCTCATGCTTG	0.348000														46			36		0	0	0.000509022	0	0
OR2L3	391192	broad.mit.edu	37	1	248224777	248224777	+	Missense_Mutation	SNP	G	A	A	rs148776094		TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr1:248224777G>A	uc001idx.1	+	0	794	c.794G>A	c.(793-795)cGa>cAa	p.R265Q	OR2L13_uc001ids.3_Intron	NM_001004687	NP_001004687	Q8NG85	OR2L3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 3 (OR2L3), mRNA.	265					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R265Q(2)		cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			AGATCCCTGCGATCTCCAACA	0.507000														77			33		0	0	0.000159656	0	0
HYDIN	54768	broad.mit.edu	37	16	70891730	70891730	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr16:70891730G>A	uc002ezr.3	-	71	12321	c.12170C>T	c.(12169-12171)tCa>tTa	p.S4057L	HYDIN_uc010cfy.3_Non-coding_Transcript	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	4058										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GGTCCATGATGACTCAGTGAT	0.463000														42			5		0	0	3.86212e-05	0	0
NELL2	4753	broad.mit.edu	37	12	44913862	44913862	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr12:44913862C>T	uc010skz.1	-	19	2601	c.2476G>A	c.(2476-2478)Gaa>Aaa	p.E826K	NELL2_uc001rof.3_Missense_Mutation_p.E775K|NELL2_uc001rog.2_Missense_Mutation_p.E776K|NELL2_uc001roh.2_Missense_Mutation_p.E776K|NELL2_uc009zkd.2_Missense_Mutation_p.E728K|NELL2_uc010sla.1_Missense_Mutation_p.E799K	NM_001145107	NP_006150	Q99435	NELL2_HUMAN	Homo sapiens NEL-like 2 (chicken) (NELL2), transcript variant 1, mRNA.	776					cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		ACATTCATTTCGTCCAGGCAA	0.498000														39			39		0	0	0.000437636	0	0
OR51V1	283111	broad.mit.edu	37	11	5221880	5221880	+	Silent	SNP	C	T	T			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr11:5221880C>T	uc010qyz.2	-	0	51	c.51G>A	c.(49-51)acG>acA	p.T17T		NM_001004760	NP_001004760	Q9H2C8	O51V1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily V, member 1 (OR51V1), mRNA.	17					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T17T(2)		endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGAAGAATTCGTGCTGGTGC	0.428000														34			27		0	0	9.22233e-05	0	0
ZNF418	147686	broad.mit.edu	37	19	58437712	58437712	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr19:58437712G>A	uc002qqs.1	-	3	2129	c.1837C>T	c.(1837-1839)Cat>Tat	p.H613Y	ZNF418_uc010yhn.1_Non-coding_Transcript|ZNF418_uc010yho.1_Missense_Mutation_p.H528Y	NM_133460	NP_597717	Q8TF45	ZN418_HUMAN	Homo sapiens zinc finger protein 418 (ZNF418), mRNA.	613					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H613N(2)		cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		CCTCGAGTATGAAGTCTCTGA	0.453000														62			39		0	0	0.000191422	0	0
OTUD6A	139562	broad.mit.edu	37	X	69282557	69282557	+	Silent	SNP	G	A	A			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chrX:69282557G>A	uc004dxu.1	+	0	217	c.183G>A	c.(181-183)caG>caA	p.Q61Q		NM_207320	NP_997203	Q7L8S5	OTU6A_HUMAN	Homo sapiens OTU domain containing 6A (OTUD6A), mRNA.	61										autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1)	23						AGCACCGGCAGGAGCTGGAGA	0.557000														5			9		0	0	3.86212e-05	0	0
LRP6	4040	broad.mit.edu	37	12	12315156	12315157	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr12:12315156_12315157GG>TT	uc001rah.4	-	9	2391_2392	c.2249_2250CC>AA	c.(2248-2250)ccc>cAA	p.P750Q	BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Missense_Mutation_p.P750Q	NM_002336	NP_002327	O75581	LRP6_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 6 (LRP6), mRNA.	750	Beta-propeller 3.				Wnt receptor signaling pathway involved in dorsal/ventral axis specification|cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	Wnt-protein binding|coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				CGAGAGCTCTGGGACTATCTAG	0.480000														495			9		0	0	6.4e-05	0	0
NCAPD2	9918	broad.mit.edu	37	12	6636085	6636085	+	Silent	SNP	C	T	T			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr12:6636085C>T	uc001qoo.2	+	21	2809	c.2763C>T	c.(2761-2763)ttC>ttT	p.F921F	NCAPD2_uc009zen.1_Silent_p.F793F|NCAPD2_uc010sfd.1_Silent_p.F876F	NM_014865	NP_055680	Q15021	CND1_HUMAN	Homo sapiens non-SMC condensin I complex, subunit D2 (NCAPD2), mRNA.	921					cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						TCCCCACTTTCCTGTTGATGA	0.572000														63			44		0	0	0.000589545	0	0
ZNF831	128611	broad.mit.edu	37	20	57828183	57828183	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr20:57828183G>A	uc002yan.3	+	3	4178	c.4178G>A	c.(4177-4179)cGa>cAa	p.R1393Q		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	1393						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)					ATGGACAAACGAACTGTGAAG	0.468000														85			50		0	0	0.000147903	0	0
NAP1L2	4674	broad.mit.edu	37	X	72434151	72434151	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chrX:72434151C>T	uc004ebi.3	-	0	560	c.178G>A	c.(178-180)Gaa>Aaa	p.E60K		NM_021963	NP_068798	Q9ULW6	NP1L2_HUMAN	Homo sapiens nucleosome assembly protein 1-like 2 (NAP1L2), mRNA.	60					nucleosome assembly	chromatin assembly complex		p.G59V(1)		NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					TCACCGTTTTCCCCTTCTTCC	0.582000														6			32		0	0	0.000279167	0	0
IQSEC2	23096	broad.mit.edu	37	X	53279585	53279585	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chrX:53279585G>A	uc004dsd.3	-	4	2374	c.2173C>T	c.(2173-2175)Ccg>Tcg	p.P725S	IQSEC2_uc004dsc.3_Missense_Mutation_p.P520S|IQSEC2_uc022bxf.1_Missense_Mutation_p.P488S	NM_001111125	NP_001104595	Q5JU85	IQEC2_HUMAN	Homo sapiens IQ motif and Sec7 domain 2 (IQSEC2), transcript variant 1, mRNA.	715					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						CCGGTAGCCGGAGGCTCCCTT	0.572000														2			13		0	0	0.00010058	0	0
PITRM1	10531	broad.mit.edu	37	10	3181112	3181112	+	Silent	SNP	G	C	C			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr10:3181112G>C	uc009xhv.2	-	24	2973	c.2904C>G	c.(2902-2904)gtC>gtG	p.V968V	PITRM1_uc001igr.2_Silent_p.V967V|PITRM1_uc001igt.2_Silent_p.V967V|PITRM1_uc010qah.2_Silent_p.V869V|PITRM1_uc001igu.1_Silent_p.V893V|PITRM1_uc010qai.2_Silent_p.V938V|LOC100507034_uc001igv.2_5'Flank	NM_001242307	NP_001229236	E7ES23	E7ES23_HUMAN	Homo sapiens pitrilysin metallopeptidase 1 (PITRM1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	869					proteolysis		metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						CTGAAGGAGCGACAGGAGCAT	0.483000														132			85		0	0	0.000147903	0	0
MUC5B	727897	broad.mit.edu	37	11	1273675	1273675	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr11:1273675C>T	uc001lta.3	+	31	15025	c.14966C>T	c.(14965-14967)tCc>tTc	p.S4989F		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	4989					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)		TGTCCCACCTCCCCACCGCCA	0.652000														21			28		0	0	9.22233e-05	0	0
ANKRD30B	374860	broad.mit.edu	37	18	14850212	14850212	+	Splice_Site	SNP	G	T	T			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr18:14850212G>T	uc010dlo.2	+	35	3219	c.3039_splice	c.e35-1	p.R1013_splice	ANKRD30B_uc021uhy.1_Splice_Site_p.R1013_splice|ANKRD30B_uc010xal.1_Splice_Site_p.R155_splice	NM_001145029	NP_001138501	Q9BXX2	AN30B_HUMAN	Homo sapiens ankyrin repeat domain 30B (ANKRD30B), mRNA.	1098										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						TTTAATGGCAGATTGACTTTA	0.269000														1			5		3.59834e-05	0.000993176	3.59834e-05	1	0
UBC	7316	broad.mit.edu	37	17	21731144	21731144	+	Missense_Mutation	SNP	T	G	G	rs149119138	by1000genomes	TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr17:21731144T>G	uc002gyy.3	+	1	571	c.446T>G	c.(445-447)cTg>cGg	p.L149R				P0CG48	UBC_HUMAN	SubName: Full=Uncharacterized protein;	301	Ubiquitin-like 2.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|JNK cascade|M/G1 transition of mitotic cell cycle|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|S phase of mitotic cell cycle|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|innate immune response|mRNA metabolic process|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	p.L149R(18)|p.R148S(1)		breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		GTCCTGCGTCTGAGAGGTGGT	0.542000														71			6		0	0	3.59834e-05	0	0
FAT3	120114	broad.mit.edu	37	11	92088078	92088079	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr11:92088078_92088079CC>AA	uc001pdj.4	+	0	2817_2818	c.2800_2801CC>AA	c.(2800-2802)cca>AAa	p.P934K		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	934	Cadherin 8.				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)				TGACTGCTCCCCAGCTTTCATT	0.446000										TCGA Ovarian(4;0.039)				622			13		0	0	6.4e-05	0	0
NOS3	4846	broad.mit.edu	37	7	150707703	150707703	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr7:150707703G>A	uc003wif.3	+	21	3000	c.2704G>A	c.(2704-2706)Gag>Aag	p.E902K	NOS3_uc011kuy.2_Missense_Mutation_p.E696K	NM_000603	NP_000594	P29474	NOS3_HUMAN	Homo sapiens nitric oxide synthase 3 (endothelial cell) (NOS3), transcript variant 1, mRNA.	902	FAD-binding FR-type.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	Golgi membrane|caveola|cytoskeleton|cytosol	FMN binding|NADP binding|actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	ACGCTACGAGGAGTGGAAGTG	0.667000														8			4		0	0	1.23904e-05	0	0
PTPRT	11122	broad.mit.edu	37	20	40980729	40980729	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr20:40980729A>T	uc002xkg.3	-	9	1941	c.1757T>A	c.(1756-1758)aTt>aAt	p.I586N	PTPRT_uc010ggj.3_Missense_Mutation_p.I586N	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	586					homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GATACCTGAAATTTTGGTGGC	0.473000														49			34		0	0	0.00058488	0	0
DOM3Z	1797	broad.mit.edu	37	6	31938769	31938770	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr6:31938769_31938770CG>AT	uc003nyp.1	-	2	844_845	c.511_512CG>AT	c.(511-513)cgg>ATg	p.R171M	DOM3Z_uc003nyq.1_5'UTR|DOM3Z_uc010jtl.1_3'UTR|STK19_uc003nyt.3_5'Flank|STK19_uc011dow.2_5'Flank|STK19_uc011dox.1_5'Flank|STK19_uc003nyv.3_5'Flank|STK19_uc003nyw.3_5'Flank|STK19_uc010jtn.1_5'Flank	NM_005510	NP_005501	O77932	DOM3Z_HUMAN	Homo sapiens dom-3 homolog Z (C. elegans) (DOM3Z), mRNA.	171							identical protein binding|metal ion binding|nucleotide binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	7						CCTCTGGGCCCGAGCGTTCGGT	0.589000														805			12		0	0	6.4e-05	0	0
NBEAL1	65065	broad.mit.edu	37	2	204066370	204066371	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr2:204066370_204066371GG>TT	uc002uzt.3	+	48	7589_7590	c.7256_7257GG>TT	c.(7255-7257)tgg>tTT	p.W2419F	NBEAL1_uc021vvj.1_Missense_Mutation_p.W1053F	NM_001114132	NP_001107604	Q6ZS30	NBEL1_HUMAN	Homo sapiens neurobeachin-like 1 (NBEAL1), mRNA.	2419							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						GCTGGATACTGGGATAATAGCA	0.396000														349			8		0	0	6.4e-05	0	0
ANKRD27	84079	broad.mit.edu	37	19	33135320	33135321	+	Nonsense_Mutation	DNP	CC	AA	AA			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr19:33135320_33135321CC>AA	uc002ntn.1	-	4	591_592	c.435_436GG>TT	c.(433-438)ttggga>ttTTga	p.145_146LG>F*	ANKRD27_uc002nto.1_Nonsense_Mutation_p.145_146LG>F*	NM_032139	NP_115515	Q96NW4	ANR27_HUMAN	Homo sapiens ankyrin repeat domain 27 (VPS9 domain) (ANKRD27), mRNA.	145					early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					GAGTGTCTTCCCAAGAACTCTC	0.500000														339			10		0	0	6.4e-05	0	0
FKBPL	63943	broad.mit.edu	37	6	32097440	32097441	+	Silent	DNP	GG	TT	TT			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr6:32097440_32097441GG>TT	uc003nzr.3	-	1	387_388	c.117_118CC>AA	c.(115-120)ccccga>ccAAga	p.39_40PR>PR	ATF6B_uc003nzn.3_5'Flank|ATF6B_uc003nzo.3_5'Flank|ATF6B_uc011dpg.2_5'Flank|ATF6B_uc011dph.2_5'Flank|FKBPL_uc021yvh.1_Silent_p.39_40PR>PR	NM_022110	NP_071393	Q9UIM3	FKBPL_HUMAN	Homo sapiens FK506 binding protein like (FKBPL), mRNA.	39					response to radiation	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity										GGAGGGTCTCGGGGCTGCTGCC	0.485000														646			13		0	0	6.4e-05	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	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(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(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					51			20		0	0	0.000132079	0	0
PSEN2	5664	broad.mit.edu	37	1	227083261	227083261	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr1:227083261C>T	uc009xeo.1	+	12	1755	c.1328C>T	c.(1327-1329)tCc>tTc	p.S443F	ADCK3_uc001hqm.1_5'Flank|PSEN2_uc009xep.1_Missense_Mutation_p.S442F|PSEN2_uc001hqk.2_Non-coding_Transcript|ADCK3_uc001hql.1_5'Flank	NM_000447	NP_000438	P49810	PSN2_HUMAN	Homo sapiens presenilin 2 (Alzheimer disease 4) (PSEN2), transcript variant 1, mRNA.	443				NLVRPFMDTLASHQLYI -> RKHSRFIQMN (in Ref. 3).	Notch receptor processing|Notch signaling pathway|amyloid precursor protein catabolic process|anti-apoptosis|apoptosis|beta-amyloid metabolic process|calcium ion transport|induction of apoptosis by extracellular signals|intracellular signal transduction|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|positive regulation of catalytic activity	Golgi membrane|Z disc|apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear inner membrane|perinuclear region of cytoplasm	aspartic-type endopeptidase activity|protein binding			cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|urinary_tract(1)	20		Prostate(94;0.0771)				ACCCTGGCCTCCCATCAGCTC	0.542000														11			12		0	0	6.40141e-05	0	0
TBX10	347853	broad.mit.edu	37	11	67400541	67400542	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr11:67400541_67400542GG>TT	uc001omp.3	-	4	670_671	c.582_583CC>AA	c.(580-585)ccccgt>ccAAgt	p.R195S		NM_005995	NP_005986	O75333	TBX10_HUMAN	Homo sapiens T-box 10 (TBX10), mRNA.	195					anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|lung(4)|ovary(1)	7						ACGTGGAAACGGGGCTGGTAGC	0.574000														177			7		0	0	6.4e-05	0	0
HHIPL2	79802	broad.mit.edu	37	1	222712032	222712033	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr1:222712032_222712033GG>TT	uc001hnh.1	-	4	1592_1593	c.1534_1535CC>AA	c.(1534-1536)cca>AAa	p.P512K		NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN	Homo sapiens HHIP-like 2 (HHIPL2), mRNA.	512					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		ATTGAGATTTGGGGATTCACAA	0.436000														323			10		0	0	6.4e-05	0	0
DISP1	84976	broad.mit.edu	37	1	223176109	223176110	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr1:223176109_223176110CC>AA	uc001hnu.2	+	9	1696_1697	c.1370_1371CC>AA	c.(1369-1371)ccc>cAA	p.P457Q		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	Homo sapiens dispatched homolog 1 (Drosophila) (DISP1), mRNA.	457					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		CTCTTCTCTCCCACAGAGAAAG	0.465000														599			12		0	0	6.4e-05	0	0
MAP2K3	5606	broad.mit.edu	37	17	21215477	21215477	+	Silent	SNP	C	T	T			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr17:21215477C>T	uc002gys.3	+	9	1063	c.798C>T	c.(796-798)ttC>ttT	p.F266F	MAP2K3_uc002gyt.3_Silent_p.F237F|MAP2K3_uc021tsq.1_Silent_p.F237F|MAP2K3_uc021tsr.1_Silent_p.F237F	NM_145109	NP_002747	P46734	MP2K3_HUMAN	Homo sapiens mitogen-activated protein kinase kinase 3 (MAP2K3), transcript variant B, mRNA.	266	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|innate immune response|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		TCCTGCGGTTCCCTTACGAGT	0.672000														37			4		0	0	1.23904e-05	0	0
TAF1A	9015	broad.mit.edu	37	1	222750876	222750877	+	Missense_Mutation	DNP	CG	AT	AT	rs145721552	by1000genomes	TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr1:222750876_222750877CG>AT	uc009xdz.2	-	4	723_724	c.514_515CG>AT	c.(514-516)cgg>ATg	p.R172M	TAF1A_uc001hni.2_Missense_Mutation_p.R58M|TAF1A_uc001hnj.3_Missense_Mutation_p.R172M|TAF1A_uc010pur.2_Missense_Mutation_p.R172M	NM_001201536	NP_001188465	Q15573	TAF1A_HUMAN	Homo sapiens TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kDa (TAF1A), transcript variant 3, mRNA.	172					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	RNA polymerase I transcription factor complex	DNA binding	p.R172R(2)		kidney(3)|large_intestine(3)|lung(11)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(131;0.0186)		TAATATTTCCCGGGAAGACGTA	0.381000														805			14		0	0	6.4e-05	0	0
KIF21B	23046	broad.mit.edu	37	1	200969662	200969662	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr1:200969662G>A	uc001gvs.2	-	10	1858	c.1541C>T	c.(1540-1542)cCc>cTc	p.P514L	KIF21B_uc009wzl.2_Missense_Mutation_p.P514L|KIF21B_uc001gvr.2_Missense_Mutation_p.P514L|KIF21B_uc010ppn.2_Missense_Mutation_p.P514L	NM_001252100	NP_001239029	O75037	KI21B_HUMAN	Homo sapiens kinesin family member 21B (KIF21B), transcript variant 1, mRNA.	514					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CAGGGAGTAGGGGCTCCTAGC	0.662000														33			28		0	0	0.000184323	0	0
RPL8	6132	broad.mit.edu	37	8	146017189	146017189	+	Silent	SNP	G	A	A			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr8:146017189G>A	uc003zeb.3	-	2	360	c.249C>T	c.(247-249)caC>caT	p.H83H	RPL8_uc003zec.3_Silent_p.H83H|RPL8_uc010mgc.3_Silent_p.H83H	NM_033301	NP_150644	P62917	RL8_HUMAN	Homo sapiens ribosomal protein L8 (RPL8), transcript variant 2, mRNA.	83					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	rRNA binding|structural constituent of ribosome			kidney(12)|lung(7)|prostate(1)	20	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.191)		ACTGGCCCGTGTGAATGCCCT	0.637000														55			103		0	0	0.000147903	0	0
TBC1D10C	374403	broad.mit.edu	37	11	67177173	67177173	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr11:67177173G>A	uc001ola.3	+	9	1318	c.1289G>A	c.(1288-1290)gGg>gAg	p.G430E	PPP1CA_uc001okx.1_Intron|TBC1D10C_uc001okz.3_3'UTR|TBC1D10C_uc001olb.3_Non-coding_Transcript	NM_198517	NP_940919	Q8IV04	TB10C_HUMAN	Homo sapiens TBC1 domain family, member 10C (TBC1D10C), mRNA.	430	Interaction with calcineurin.					intracellular	Rab GTPase activator activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			CCCATCGAGGGGCCCCCCAGG	0.682000														15			12		0	0	0.000308642	0	0
CFI	3426	broad.mit.edu	37	4	110662164	110662164	+	Missense_Mutation	SNP	C	A	A	rs121964915		TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr4:110662164C>A	uc011cft.2	-	13	1869	c.1661G>T	c.(1660-1662)tGg>tTg	p.W554L	CFI_uc003hzq.3_Missense_Mutation_p.W343L|CFI_uc003hzr.4_Missense_Mutation_p.W546L	NM_000204	NP_000195	P05156	CFAI_HUMAN	Homo sapiens complement factor I (CFI), mRNA.	546	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		GTTTTCCCCCCAACTCACAAC	0.458000														172			120		7.61515e-48	2.23391e-46	0.000147903	1	0
DNAJC5B	85479	broad.mit.edu	37	8	66992777	66992777	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr8:66992777G>A	uc003xvs.1	+	4	790	c.499G>A	c.(499-501)Gaa>Aaa	p.E167K	DNAJC5B_uc003xvt.1_Non-coding_Transcript	NM_033105	NP_149096	Q9UF47	DNJ5B_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 5 beta (DNAJC5B), mRNA.	167					protein folding	membrane	heat shock protein binding|unfolded protein binding			endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3)	20		Lung NSC(129;0.114)|all_lung(136;0.188)	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)			GTCTGACATGGAAAAAGGTGG	0.542000														10			4		0	0	1.23904e-05	0	0
SPTB	6710	broad.mit.edu	37	14	65269006	65269006	+	Silent	SNP	T	C	C			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr14:65269006T>C	uc001xht.3	-	3	555	c.504A>G	c.(502-504)gaA>gaG	p.E168E	SPTB_uc001xhr.3_Silent_p.E168E|SPTB_uc001xhs.3_Silent_p.E168E|SPTB_uc001xhu.3_Silent_p.E168E	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	168	Actin-binding.				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TTTCACGACCTTCCTGAGTTT	0.532000											OREG0022735	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		13			12		0	0	0.00010058	0	0
LRRC28	123355	broad.mit.edu	37	15	99828120	99828120	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr15:99828120C>T	uc002bva.1	+	4	504	c.349C>T	c.(349-351)Cga>Tga	p.R117*	LRRC28_uc010urs.1_Non-coding_Transcript|LRRC28_uc002bvb.1_5'UTR|LRRC28_uc010urt.1_5'UTR|LRRC28_uc002bvc.1_Nonsense_Mutation_p.R117*|LRRC28_uc010uru.1_Nonsense_Mutation_p.R117*|LRRC28_uc002bvd.1_Intron	NM_144598	NP_653199	Q86X40	LRC28_HUMAN	Homo sapiens leucine rich repeat containing 28 (LRRC28), mRNA.	117										endometrium(2)|large_intestine(3)|lung(6)|prostate(1)	12	Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00106)			ACGTCATCTTCGATTAGCTAA	0.373000														60			33		0	0	0.00058488	0	0
C15orf2	23742	broad.mit.edu	37	15	24923711	24923711	+	Silent	SNP	C	T	T			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr15:24923711C>T	uc001ywo.3	+	0	3171	c.2697C>T	c.(2695-2697)tcC>tcT	p.S899S		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	899					cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		TCTCTCATTCCACACTTGGGG	0.498000														23			61		0	0	0.000147903	0	0
SERINC3	10955	broad.mit.edu	37	20	43142583	43142583	+	Silent	SNP	G	A	A			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr20:43142583G>A	uc002xme.3	-	1	272	c.138C>T	c.(136-138)ctC>ctT	p.L46L	SERINC3_uc002xmf.1_Silent_p.L46L|SERINC3_uc010ggs.1_Silent_p.L39L|SERINC3_uc010zwp.1_5'UTR	NM_198941	NP_945179	Q13530	SERC3_HUMAN	Homo sapiens serine incorporator 3 (SERINC3), transcript variant 2, mRNA.	46						integral to membrane|plasma membrane	protein binding			endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			TGCTCAGGAGGAGAATGAAAG	0.438000														64			28		0	0	0.000117367	0	0
ATP11A	23250	broad.mit.edu	37	13	113508685	113508685	+	Missense_Mutation	SNP	C	T	T	rs139917817		TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr13:113508685C>T	uc001vsj.4	+	18	2172	c.2084C>T	c.(2083-2085)gCg>gTg	p.A695V	ATP11A_uc001vsi.4_Missense_Mutation_p.A695V|ATP11A_uc001vsm.1_Missense_Mutation_p.A571V|ATP11A_uc010ago.3_Non-coding_Transcript	NM_032189	NP_115565	P98196	AT11A_HUMAN	Homo sapiens ATPase, class VI, type 11A (ATP11A), transcript variant 2, mRNA.	695					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				GAGACGGCCGCGGCCACGTGC	0.622000														43			6		0	0	3.59834e-05	0	0
GCK	2645	broad.mit.edu	37	7	44189377	44189377	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr7:44189377C>T	uc003tkl.2	-	5	1131	c.661G>A	c.(661-663)Gag>Aag	p.E221K	GCK_uc003tkj.1_Missense_Mutation_p.E220K|GCK_uc003tkk.1_Missense_Mutation_p.E222K	NM_000162	NP_000153	P35557	HXK4_HUMAN	Homo sapiens glucokinase (hexokinase 4) (GCK), transcript variant 1, mRNA.	221			E -> K (in MODY2).		cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding	p.C221C(1)		central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						ATGCCGACCTCGCACTGATGG	0.567000														239			141		0	0	0.000147903	0	0
BV13S6J2.1	0	broad.mit.edu	37	7	142180667	142180667	+	Silent	SNP	C	T	T			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr7:142180667C>T	uc011krz.2	-	1	241	c.192G>A	c.(190-192)ctG>ctA	p.L64L	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Silent_p.L64L|BV13S6J2.1_uc022anl.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		AGTAATGAATCAGCCTCAGCC	0.517000														240			28		0	0	0.000147903	0	0
PEAR1	375033	broad.mit.edu	37	1	156873722	156873722	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr1:156873722T>A	uc001fqj.1	+	1	120	c.4T>A	c.(4-6)Tca>Aca	p.S2T	PEAR1_uc009wsl.1_5'Flank|PEAR1_uc001fqk.1_5'Flank	NM_001080471	NP_001073940	Q5VY43	PEAR1_HUMAN	Homo sapiens platelet endothelial aggregation receptor 1 (PEAR1), mRNA.	2						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)					CTCTGCAATGTCACCGCCTCT	0.637000														80			49		0	0	0.000147903	0	0
MUC16	94025	broad.mit.edu	37	19	9074565	9074565	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr19:9074565G>A	uc002mkp.3	-	2	13085	c.12881C>T	c.(12880-12882)tCc>tTc	p.S4294F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	4296	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						TGTGGTCTCGGAGGAGCCAAA	0.527000														31			23		0	0	0.000375601	0	0
PCDHB2	56133	broad.mit.edu	37	5	140474556	140474556	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr5:140474556T>C	uc003lil.3	+	0	320	c.182T>C	c.(181-183)cTt>cCt	p.L61P	PCDHB2_uc003lim.1_Intron	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	Homo sapiens protocadherin beta 2 (PCDHB2), mRNA.	61	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATAGGAGAACTTGCTGTGAGG	0.502000														9			29		0	0	0.000184323	0	0
MATN2	4147	broad.mit.edu	37	8	99030221	99030222	+	Splice_Site	DNP	GG	TT	TT			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr8:99030221_99030222GG>TT	uc003yic.3	+	12	1928	c.1697_splice	c.e12-1	p.R566_splice	MATN2_uc010mbh.1_Splice_Site_p.R525_splice|MATN2_uc003yid.3_Splice_Site_p.R566_splice|MATN2_uc003yie.1_Splice_Site_p.R566_splice|MATN2_uc010mbi.1_Splice_Site_p.R399_splice	NM_002380	NP_002371	O00339	MATN2_HUMAN	Homo sapiens matrilin 2 (MATN2), transcript variant 1, mRNA.	566	EGF-like 9.					proteinaceous extracellular matrix	calcium ion binding	p.?(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			CCTGTCTTCAGGGAAAGATGTC	0.470000														466			12		0	0	6.4e-05	0	0
CEACAM5	1048	broad.mit.edu	37	19	42213851	42213851	+	Missense_Mutation	SNP	C	T	T	rs150911810	byFrequency	TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr19:42213851C>T	uc002orl.3	+	1	438	c.317C>T	c.(316-318)tCc>tTc	p.S106F	CEACAM5_uc010ehz.1_Missense_Mutation_p.S106F|CEACAM5_uc002orj.1_Missense_Mutation_p.S106F	NM_004363	NP_004354	P06731	CEAM5_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 5 (CEACAM5), mRNA.	106	Ig-like 1.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		CCCAATGCATCCCTGCTGATC	0.468000														95			74		0	0	0.000147903	0	0
GPR65	8477	broad.mit.edu	37	14	88477401	88477401	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr14:88477401G>A	uc021rxh.1	+	0	210	c.210G>A	c.(208-210)tgG>tgA	p.W70*	GPR65_uc001xvv.3_Nonsense_Mutation_p.W70*	NM_003608	NP_003599	Q8IYL9	PSYR_HUMAN	Homo sapiens G protein-coupled receptor 65 (GPR65), mRNA.	70					actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						TCCCTTTATGGATTGATTATA	0.393000														81			56		0	0	0.000147903	0	0
LRFN1	57622	broad.mit.edu	37	19	39805548	39805548	+	Silent	SNP	G	A	A			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr19:39805548G>A	uc002okw.2	-	0	429	c.429C>T	c.(427-429)atC>atT	p.I143I		NM_020862	NP_065913	Q9P244	LRFN1_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 1 (LRFN1), mRNA.	143						cell junction|integral to membrane|postsynaptic density|postsynaptic membrane				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			TGTTTCCAAGGATCAGGTGGC	0.687000														11			7		0	0	8.12818e-05	0	0
FAT3	120114	broad.mit.edu	37	11	92533599	92533600	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr11:92533599_92533600GG>TT	uc001pdj.4	+	8	7437_7438	c.7420_7421GG>TT	c.(7420-7422)ggg>TTg	p.G2474L		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	2474	Cadherin 22.				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)				TGTCTCTGATGGGTTGTTCACC	0.500000										TCGA Ovarian(4;0.039)				535			9		0	0	6.4e-05	0	0
CXorf22	170063	broad.mit.edu	37	X	35985897	35985897	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chrX:35985897C>T	uc004ddj.3	+	9	1828	c.1762C>T	c.(1762-1764)Ccc>Tcc	p.P588S	CXorf22_uc010ngv.3_Non-coding_Transcript	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	Homo sapiens chromosome X open reading frame 22 (CXorf22), mRNA.	588										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						ATTAGCCTTTCCCAATGACCG	0.403000														4			13		0	0	0.000422831	0	0
KCNJ18	100134444	broad.mit.edu	37	17	21318660	21318660	+	Silent	SNP	C	T	T	rs148939916	byFrequency	TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr17:21318660C>T	uc021tss.1	+	2	376	c.6C>T	c.(4-6)acC>acT	p.T2T	KCNJ18_uc002gyv.1_Silent_p.T2T|KCNJ18_uc021tst.1_Silent_p.T2T	NM_001194958	NP_001181887	B7U540	IRK18_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 18 (KCNJ18), mRNA.	2						integral to membrane	inward rectifier potassium channel activity										CCGGGATGACCGCGGCCAGCC	0.697000														23			9		0	0	0.000274275	0	0
PCDHB5	26167	broad.mit.edu	37	5	140516849	140516849	+	Silent	SNP	C	A	A			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr5:140516849C>A	uc003liq.3	+	0	2050	c.1833C>A	c.(1831-1833)ccC>ccA	p.P611P		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	Homo sapiens protocadherin beta 5 (PCDHB5), mRNA.	611	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCACGGAGCCCGGGCTGTTCA	0.701000														18			62		1.74971e-23	5.05342e-22	0.000147903	1	0
NRXN3	9369	broad.mit.edu	37	14	79270122	79270122	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr14:79270122G>A	uc001xun.3	+	5	1576	c.1085G>A	c.(1084-1086)cGt>cAt	p.R362H	NRXN3_uc001xum.1_Non-coding_Transcript|NRXN3_uc010asv.1_Missense_Mutation_p.R496H	NM_004796	NP_004787	Q9HDB5	NRX3B_HUMAN	Homo sapiens neurexin 3 (NRXN3), transcript variant 1, mRNA.	140					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GACACCCTGCGTCTGGAGCTG	0.552000														42			29		0	0	0.000184323	0	0
COL4A2	1284	broad.mit.edu	37	13	111147731	111147731	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr13:111147731G>A	uc001vqx.3	+	39	3966	c.3677G>A	c.(3676-3678)gGg>gAg	p.G1226E		NM_001846	NP_001837	P08572	CO4A2_HUMAN	Homo sapiens collagen, type IV, alpha 2 (COL4A2), mRNA.	1226	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GGCCCTCCTGGGGAAAGAGGT	0.567000														51			29		0	0	0.000117367	0	0
PIAS3	10401	broad.mit.edu	37	1	145578322	145578322	+	Silent	SNP	C	A	A			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr1:145578322C>A	uc001eoc.1	+	1	376	c.285C>A	c.(283-285)ccC>ccA	p.P95P	PIAS3_uc010oyy.1_Silent_p.P86P|PIAS3_uc001eod.1_5'Flank	NM_006099	NP_006090	Q9Y6X2	PIAS3_HUMAN	Homo sapiens protein inhibitor of activated STAT, 3 (PIAS3), mRNA.	95	Pro-rich.				positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding	p.G95C(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CTCTAGCTCCCATTCCCCCAA	0.657000														57			50		3.81248e-40	1.11257e-38	0.000147903	1	0
GK2	2712	broad.mit.edu	37	4	80328222	80328222	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr4:80328222C>T	uc003hlu.3	-	0	1151	c.1133G>A	c.(1132-1134)gGg>gAg	p.G378E		NM_033214	NP_149991	Q14410	GLPK2_HUMAN	Homo sapiens glycerol kinase 2 (GK2), mRNA.	378					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity	p.G378G(2)		autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						ACAGAGTATCCCTCTTGCACT	0.423000														55			38		0	0	0.000228196	0	0
ANKLE1	126549	broad.mit.edu	37	19	17394647	17394647	+	Silent	SNP	C	T	T			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr19:17394647C>T	uc010xpn.1	+	4	1350	c.1236C>T	c.(1234-1236)gtC>gtT	p.V412V	ANKLE1_uc010xpm.1_Non-coding_Transcript|ANKLE1_uc002nga.2_Silent_p.V358V|ANKLE1_uc010eao.1_Silent_p.V380V|ANKLE1_uc002nfy.2_Silent_p.V347V|ANKLE1_uc002nfz.2_Silent_p.V64V			Q8NAG6	ANKL1_HUMAN	Homo sapiens ankyrin repeat and LEM domain containing 1 (ANKLE1), mRNA.	358						nuclear envelope				large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						ACCTGCCAGTCTCCACTGTGT	0.582000														31			26		0	0	0.00047179	0	0
CORO1A	11151	broad.mit.edu	37	16	30199304	30199304	+	Silent	SNP	C	T	T			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr16:30199304C>T	uc010bzq.3	+	8	1338	c.903C>T	c.(901-903)gcC>gcT	p.A301A	BOLA2_uc010bzb.1_Intron|CORO1A_uc002dww.3_Silent_p.A301A|CORO1A_uc002dwx.3_Silent_p.A195A|CORO1A_uc002dwy.1_3'UTR|CORO1A_uc002dwz.1_5'Flank	NM_001193333	NP_009005	P31146	COR1A_HUMAN	Homo sapiens coronin, actin binding protein, 1A (CORO1A), transcript variant 1, mRNA.	301					cell-substrate adhesion|innate immune response|leukocyte chemotaxis|negative regulation of actin nucleation|phagolysosome assembly|positive chemotaxis|regulation of cell shape|uropod organization	actin filament|cortical actin cytoskeleton|lamellipodium|phagocytic cup|phagocytic vesicle membrane	actin filament binding|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein homodimerization activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	9						CTTCCGAGGCCCCTTTCCTGC	0.587000														62			39		0	0	0.000319135	0	0
SLC22A10	387775	broad.mit.edu	37	11	63071674	63071674	+	Silent	SNP	C	T	T			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr11:63071674C>T	uc009yor.3	+	7	1588	c.1380C>T	c.(1378-1380)atC>atT	p.I460I	SLC22A10_uc010rmo.1_Intron|SLC22A10_uc001nwu.4_Non-coding_Transcript|SLC22A10_uc010rmp.1_Missense_Mutation_p.S254F	NM_001039752	NP_001034841	Q63ZE4	S22AA_HUMAN	Homo sapiens solute carrier family 22, member 10 (SLC22A10), mRNA.	460						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TTGAACTCATCCCCACTGTTC	0.458000														71			45		0	0	0.000589545	0	0
AGAP1	116987	broad.mit.edu	37	2	236715898	236715898	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr2:236715898G>A	uc002vvs.3	+	8	1571	c.973G>A	c.(973-975)Gac>Aac	p.D325N	AGAP1_uc002vvt.3_Missense_Mutation_p.D325N|AGAP1_uc021vyp.1_Missense_Mutation_p.D325N	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 (AGAP1), transcript variant 1, mRNA.	325					protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						GAAAGGGAGCGACCCAGACAA	0.567000														13			57		0	0	0.000147903	0	0
HRASLS5	117245	broad.mit.edu	37	11	63233660	63233660	+	Silent	SNP	G	A	A			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr11:63233660G>A	uc001nwy.2	-	4	843	c.669C>T	c.(667-669)atC>atT	p.I223I	HRASLS5_uc001nwz.2_Silent_p.I213I|HRASLS5_uc010rmq.1_Silent_p.I223I|HRASLS5_uc009yos.2_Non-coding_Transcript	NM_054108	NP_473449	Q96KN8	HRSL5_HUMAN	Homo sapiens HRAS-like suppressor family, member 5 (HRASLS5), transcript variant 1, mRNA.	223										endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	14						TGTACTGCACGATCTTGTTGA	0.517000														41			48		0	0	0.000125731	0	0
ZNF407	55628	broad.mit.edu	37	18	72346087	72346087	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr18:72346087C>T	uc002llw.2	+	0	3165	c.3112C>T	c.(3112-3114)Cgg>Tgg	p.R1038W	ZNF407_uc010xfc.2_Missense_Mutation_p.R1038W|ZNF407_uc010dqu.2_Missense_Mutation_p.R1038W|ZNF407_uc002llu.2_Missense_Mutation_p.R1037W	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	Homo sapiens zinc finger protein 407 (ZNF407), transcript variant 1, mRNA.	1038					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GCATGTAAAACGGAAACATAC	0.463000														18			57		0	0	0.000147903	0	0
HIF3A	64344	broad.mit.edu	37	19	46823707	46823707	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr19:46823707G>A	uc002peh.3	+	8	1064	c.1033G>A	c.(1033-1035)Gaa>Aaa	p.E345K	HIF3A_uc002peg.4_Missense_Mutation_p.E345K|HIF3A_uc010xxx.2_Non-coding_Transcript|HIF3A_uc021uwf.1_Missense_Mutation_p.E289K|HIF3A_uc002pej.2_Missense_Mutation_p.E276K|HIF3A_uc010xxy.2_Missense_Mutation_p.E276K|HIF3A_uc002pel.3_Missense_Mutation_p.E343K|HIF3A_uc010xxz.2_Missense_Mutation_p.E294K	NM_152795	NP_690008	Q9Y2N7	HIF3A_HUMAN	Homo sapiens hypoxia inducible factor 3, alpha subunit (HIF3A), transcript variant 3, mRNA.	345					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		CAGCCAGGTGGAAGAGACCGG	0.607000														53			31		0	0	0.000109025	0	0
ADAM30	11085	broad.mit.edu	37	1	120438457	120438458	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr1:120438457_120438458CC>AA	uc001eij.3	-	0	690_691	c.502_503GG>TT	c.(502-504)ggg>TTg	p.G168L		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA.	168					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.G168W(2)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		AACCTGATTCCCAAACTGCTCT	0.436000														761			12		0	0	6.4e-05	0	0
MLL3	58508	broad.mit.edu	37	7	151945151	151945151	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr7:151945151C>T	uc003wla.3	-	13	2587	c.2368G>A	c.(2368-2370)Gac>Aac	p.D790N		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	790					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	p.S789L(1)		NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		GAAGGCAAGTCTGAAGAAGGT	0.423000			N		medulloblastoma									478			19		0	0	0.000147802	0	0
KRTAP10-11	386678	broad.mit.edu	37	21	46066862	46066862	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr21:46066862G>A	uc002zfr.4	+	0	532	c.487G>A	c.(487-489)Gag>Aag	p.E163K	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198692	NP_941965	P60411	KR109_HUMAN	Homo sapiens keratin associated protein 10-11 (KRTAP10-11), mRNA.	157	25 X 5 AA repeats of C-C-X(3).					keratin filament				NS(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	12						CACCTGCTCTGAGGATTCCTC	0.627000														92			65		0	0	0.000147903	0	0
ABCC5	10057	broad.mit.edu	37	3	183679345	183679345	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr3:183679345G>A	uc003fmg.3	-	15	2498	c.2333C>T	c.(2332-2334)gCt>gTt	p.A778V	ABCC5_uc011bqt.2_Missense_Mutation_p.A306V|ABCC5_uc010hxl.3_Missense_Mutation_p.A778V	NM_005688	NP_005679	O15440	MRP5_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 5 (ABCC5), transcript variant 1, mRNA.	778	ABC transporter 1.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			AAAAATGGTAGCATAGTCACC	0.458000														44			27		0	0	0.000586117	0	0
FBN3	84467	broad.mit.edu	37	19	8176585	8176585	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr19:8176585G>A	uc002mjf.3	-	30	4048	c.4031C>T	c.(4030-4032)tCc>tTc	p.S1344F		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	1344	EGF-like 20; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GCAGCGGTAGGAGCCAGGGAC	0.647000														38			19		0	0	9.7654e-05	0	0
LRBA	987	broad.mit.edu	37	4	151850033	151850033	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr4:151850033A>G	uc010ipj.3	-	2	645	c.401T>C	c.(400-402)gTt>gCt	p.V134A	LRBA_uc003ilu.4_Missense_Mutation_p.V134A|LRBA_uc010ipk.1_Missense_Mutation_p.V53A	NM_006726	NP_006717	P50851	LRBA_HUMAN	Homo sapiens LPS-responsive vesicle trafficking, beach and anchor containing (LRBA), transcript variant 2, mRNA.	134						Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					CACTTTTTCAACAAGGCCTAC	0.348000														71			32		0	0	0.000132358	0	0
MUC16	94025	broad.mit.edu	37	19	9057011	9057011	+	Silent	SNP	G	A	A			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr19:9057011G>A	uc002mkp.3	-	2	30639	c.30435C>T	c.(30433-30435)tcC>tcT	p.S10145S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10147	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						GCATTGATGTGGAAATAGAGG	0.458000														32			19		0	0	7.07596e-05	0	0
AIPL1	23746	broad.mit.edu	37	17	6329120	6329120	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr17:6329120C>A	uc002gcp.3	-	5	910	c.815G>T	c.(814-816)cGg>cTg	p.R272L	AIPL1_uc021toq.1_Missense_Mutation_p.R233L|AIPL1_uc002gcq.3_Missense_Mutation_p.R212L|AIPL1_uc002gcr.3_Missense_Mutation_p.R209L|AIPL1_uc010clk.3_Missense_Mutation_p.R250L|AIPL1_uc010cll.3_Missense_Mutation_p.R248L|AIPL1_uc021tor.1_3'UTR|AIPL1_uc002gcs.3_3'UTR	NM_014336	NP_055151	Q9NZN9	AIPL1_HUMAN	Homo sapiens aryl hydrocarbon receptor interacting protein-like 1 (AIPL1), transcript variant 1, mRNA.	272					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)		TGCGTGAGCCCGGGCACGCAC	0.667000														26			17		6.94344e-10	1.94521e-08	7.07596e-05	1	0
USP6	9098	broad.mit.edu	37	17	5073801	5073801	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr17:5073801G>A	uc002gau.1	+	35	5775	c.3545G>A	c.(3544-3546)gGa>gAa	p.G1182E	USP6_uc002gav.1_Missense_Mutation_p.G1182E|USP6_uc010ckz.1_Missense_Mutation_p.G865E	NM_004505	NP_004496	P35125	UBP6_HUMAN	Homo sapiens ubiquitin specific peptidase 6 (Tre-2 oncogene) (USP6), mRNA.	1182					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	Rab GTPase activator activity|calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						AGAAAAAGTGGAACCAGCTGT	0.507000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts									27			17		0	0	0.000132079	0	0
SLC44A4	80736	broad.mit.edu	37	6	31842556	31842557	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr6:31842556_31842557CC>AA	uc010jti.3	-	5	475_476	c.409_410GG>TT	c.(409-411)ggg>TTg	p.G137L	SLC44A4_uc011dol.2_Missense_Mutation_p.G61L|SLC44A4_uc011dom.2_Intron	NM_025257	NP_079533	Q53GD3	CTL4_HUMAN	Homo sapiens solute carrier family 44, member 4 (SLC44A4), transcript variant 1, mRNA.	137						integral to membrane|plasma membrane	choline transmembrane transporter activity	p.V136I(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	GAAGACTTCCCCAACAGTCTGT	0.525000														599			13		0	0	6.4e-05	0	0
COL1A1	1277	broad.mit.edu	37	17	48263002	48263002	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr17:48263002G>A	uc002iqm.3	-	50	4382	c.4256C>T	c.(4255-4257)aCc>aTc	p.T1419I	DD181999_uc021tzy.1_5'Flank	NM_000088	NP_000079	P02452	CO1A1_HUMAN	Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA.	1419	Fibrillar collagen NC1.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	CCAGGCTCCGGTGTGACTCTG	0.617000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta							23			26		0	0	9.22233e-05	0	0
UBQLN3	50613	broad.mit.edu	37	11	5529400	5529400	+	Silent	SNP	G	A	A			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr11:5529400G>A	uc021qcw.1	-	0	1389	c.1389C>T	c.(1387-1389)tcC>tcT	p.S463S	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_5'Flank|OR51B5_uc021qcv.1_5'Flank|OR51B5_uc001maq.2_5'Flank|UBQLN3_uc001may.1_Silent_p.S463S	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN	Homo sapiens ubiquilin 3 (UBQLN3), mRNA.	463										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGCCGTGGGGGAAAAAGATA	0.547000														27			25		0	0	0.000586117	0	0
NAV1	89796	broad.mit.edu	37	1	201782312	201782312	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr1:201782312C>T	uc021phi.1	+	27	5613	c.5266C>T	c.(5266-5268)Cgg>Tgg	p.R1756W	NAV1_uc001gwu.3_Missense_Mutation_p.R1753W|NAV1_uc001gwx.3_Missense_Mutation_p.R1362W	NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN	Homo sapiens neuron navigator 1 (NAV1), transcript variant 1, mRNA.	1756					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						TGAGGACTTCCGGACCTGGTT	0.522000														45			23		0	0	9.22233e-05	0	0
MANSC1	54682	broad.mit.edu	37	12	12496107	12496107	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr12:12496107C>T	uc001rai.1	-	1	400	c.142G>A	c.(142-144)Gga>Aga	p.G48R	MANSC1_uc001raj.1_Splice_Site_p.G14_splice	NM_018050	NP_060520	Q9H8J5	MANS1_HUMAN	Homo sapiens MANSC domain containing 1 (MANSC1), mRNA.	48	MANSC.					integral to membrane				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4)	23		Prostate(47;0.0865)		BRCA - Breast invasive adenocarcinoma(232;0.185)		CCTCTGATTCCCTTAGAAAGA	0.383000														65			39		0	0	0.000191422	0	0
KRTAP4-6	81871	broad.mit.edu	37	17	39296431	39296431	+	Silent	SNP	A	G	G			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr17:39296431A>G	uc010cxk.2	-	0	309	c.309T>C	c.(307-309)acT>acC	p.T103T		NM_030976	NP_112238	Q9BYQ5	KRA46_HUMAN	Homo sapiens keratin associated protein 4-6 (KRTAP4-6), mRNA.	99	29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].					keratin filament				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						GACGGCAGCAAGTGGGCTGGC	0.652000														56			4		0	0	3.59834e-05	0	0
FLG	2312	broad.mit.edu	37	1	152279024	152279025	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr1:152279024_152279025GG>TT	uc001ezu.1	-	2	8373_8374	c.8337_8338CC>AA	c.(8335-8340)tcccaa>tcAAaa	p.Q2780K		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	2780	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)			TGACCGTCTTGGGATGCTGAGT	0.594000									Ichthyosis					785			15		0	0	6.4e-05	0	0
XYLT1	64131	broad.mit.edu	37	16	17211549	17211549	+	Silent	SNP	G	A	A			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr16:17211549G>A	uc002dfa.3	-	10	2596	c.2511C>T	c.(2509-2511)ttC>ttT	p.F837F		NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN	Homo sapiens xylosyltransferase I (XYLT1), mRNA.	837					glycosaminoglycan biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|extracellular region|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GCGCAACGAGGAATTTGGTCT	0.532000														45			21		0	0	0.000132079	0	0
LRRN2	10446	broad.mit.edu	37	1	204588913	204588913	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr1:204588913C>T	uc021phy.1	-	0	208	c.208G>A	c.(208-210)Ggc>Agc	p.G70S	MDM4_uc001hbd.2_Intron|LRRN2_uc001hbe.1_Missense_Mutation_p.G70S|LRRN2_uc001hbf.1_Missense_Mutation_p.G70S|LRRN2_uc009xbf.1_Missense_Mutation_p.G70S|MDM4_uc001hbc.3_Intron	NM_201630	NP_963924	O75325	LRRN2_HUMAN	Homo sapiens leucine rich repeat neuronal 2 (LRRN2), transcript variant 2, mRNA.	70					cell adhesion	integral to membrane	receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			GTCTGTGTGCCTGCGGGGAGT	0.627000														52			36		0	0	0.000191422	0	0
ATP13A5	344905	broad.mit.edu	37	3	193032880	193032880	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr3:193032880T>A	uc011bsq.2	-	17	2039	c.2039A>T	c.(2038-2040)aAa>aTa	p.K680I		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	Homo sapiens ATPase type 13A5 (ATP13A5), mRNA.	680					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		TGACTCCACTTTTTCTCTTTG	0.328000														56			31		0	0	0.00058488	0	0
IPO4	79711	broad.mit.edu	37	14	24655957	24655957	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr14:24655957C>T	uc001wmv.1	-	8	1818	c.797G>A	c.(796-798)cGt>cAt	p.R266H	IPO4_uc001wmt.1_5'Flank|IPO4_uc001wmu.2_5'UTR|IPO4_uc001wmw.1_Non-coding_Transcript|IPO4_uc010tnz.1_Non-coding_Transcript|IPO4_uc001wmx.1_Missense_Mutation_p.R130H|IPO4_uc001wmy.1_Missense_Mutation_p.R130H|IPO4_uc001wmz.2_Missense_Mutation_p.R266H	NM_024658	NP_078934	Q8TEX9	IPO4_HUMAN	Homo sapiens importin 4 (IPO4), mRNA.	266					intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		GCAGAGAATACGTATGCGTAT	0.502000														34			18		0	0	0.000175454	0	0
SLC4A10	57282	broad.mit.edu	37	2	162719558	162719558	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr2:162719558C>T	uc002ubx.4	+	5	936	c.752C>T	c.(751-753)tCc>tTc	p.S251F	SLC4A10_uc010fpa.1_Missense_Mutation_p.S263F|SLC4A10_uc010zcr.1_Non-coding_Transcript|SLC4A10_uc010zcs.2_Missense_Mutation_p.S262F|SLC4A10_uc002uby.4_Missense_Mutation_p.S251F	NM_001178015	NP_001171486	Q6U841	S4A10_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate transporter, member 10 (SLC4A10), transcript variant 1, mRNA.	251					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GAACCAAATTCCATGGACAAA	0.338000														12			31		0	0	0.000339439	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995638	140995638	+	Silent	SNP	C	T	T			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chrX:140995638C>T	uc004fbt.3	+	3	2772	c.2448C>T	c.(2446-2448)tcC>tcT	p.S816S	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Silent_p.S475S	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	816							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CTGTGAGCTCCTTCCCCTCCT	0.552000										HNSCC(15;0.026)				34			128		0	0	0.000147903	0	0
PRMT8	56341	broad.mit.edu	37	12	3600829	3600829	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr12:3600829G>A	uc001qmf.3	+	0	405	c.38G>A	c.(37-39)aGg>aAg	p.R13K	PRMT8_uc009zed.3_Intron|AK125333_uc001qmd.1_Intron	NM_019854	NP_062828	Q9NR22	ANM8_HUMAN	Homo sapiens protein arginine methyltransferase 8 (PRMT8), mRNA.	13					regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			CTGCTCCTGAGGAGGAAAATG	0.647000														28			16		0	0	7.07596e-05	0	0
PCDHB4	56131	broad.mit.edu	37	5	140501747	140501748	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr5:140501747_140501748GG>AA	uc003lip.1	+	0	167_168	c.167_168GG>AA	c.(166-168)ggg>gAA	p.G56E		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	Homo sapiens protocadherin beta 4 (PCDHB4), mRNA.	56	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTGGGAATTGGGGAACTGGCCT	0.559000														9			18		0	0	6.4e-05	0	0
NOX1	27035	broad.mit.edu	37	X	100105231	100105231	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chrX:100105231C>T	uc004egj.3	-	8	1248	c.1042G>A	c.(1042-1044)Gaa>Aaa	p.E348K	NOX1_uc004egl.4_Missense_Mutation_p.E348K|NOX1_uc010nne.3_Missense_Mutation_p.E311K	NM_007052	NP_008983	Q9Y5S8	NOX1_HUMAN	Homo sapiens NADPH oxidase 1 (NOX1), transcript variant NOH-1L, mRNA.	348	FAD-binding FR-type.				FADH2 metabolic process|angiogenesis|cell migration|electron transport chain|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	NADPH oxidase complex|cell junction|early endosome|invadopodium membrane	Rac GTPase binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity			cervix(1)|lung(3)|ovary(1)|skin(2)	7						AAGAAATCTTCCTCTGGAGCA	0.468000														7			36		0	0	0.000191422	0	0
CHMP4C	92421	broad.mit.edu	37	8	82645023	82645023	+	Silent	SNP	C	T	T			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr8:82645023C>T	uc003ycl.3	+	0	336	c.162C>T	c.(160-162)gcC>gcT	p.A54A		NM_152284	NP_689497	Q96CF2	CHM4C_HUMAN	Homo sapiens charged multivesicular body protein 4C (CHMP4C), mRNA.	54	Intramolecular interaction with C- terminus (By similarity).				cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein binding			NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	10						TCGCCCTGGCCAAGAAGCACG	0.602000														14			13		0	0	0.000219431	0	0
SERPINB11	89778	broad.mit.edu	37	18	61390507	61390507	+	Silent	SNP	G	A	A			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr18:61390507G>A	uc002ljk.4	+	8	1221	c.1050G>A	c.(1048-1050)ggG>ggA	p.G350G	SERPINB11_uc010xes.2_Silent_p.G176G|SERPINB11_uc010dqd.3_Intron|SERPINB11_uc002ljj.4_Silent_p.G237G|SERPINB11_uc010dqe.3_Silent_p.G150G|SERPINB11_uc010dqf.3_Silent_p.G149G	NM_080475	NP_536723	Q96P15	SPB11_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene) (SERPINB11), mRNA.	351	RCL (By similarity).				regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				CAGCCACTGGGGACAGCATCG	0.498000														6			35		0	0	0.00058488	0	0
DCST1	149095	broad.mit.edu	37	1	155011916	155011916	+	Silent	SNP	C	T	T			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr1:155011916C>T	uc001fgn.2	+	4	414	c.300C>T	c.(298-300)atC>atT	p.I100I	DCST1_uc010per.2_Silent_p.I125I|DCST1_uc010pes.2_Silent_p.I75I	NM_152494	NP_689707	Q5T197	DCST1_HUMAN	Homo sapiens DC-STAMP domain containing 1 (DCST1), transcript variant 1, mRNA.	100						integral to membrane	zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			CCCCTCACATCCGCTGTGCCA	0.602000														64			59		0	0	0.000147903	0	0
ZNF215	7762	broad.mit.edu	37	11	6953610	6953610	+	Missense_Mutation	SNP	A	G	G	rs11041107	byFrequency	TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr11:6953610A>G	uc001mey.3	+	2	695	c.107A>G	c.(106-108)aAc>aGc	p.N36S	ZNF215_uc010raw.2_Missense_Mutation_p.N36S|ZNF215_uc010rax.2_5'UTR|ZNF215_uc001mez.1_Missense_Mutation_p.N36S	NM_013250	NP_037382	Q9UL58	ZN215_HUMAN	Homo sapiens zinc finger protein 215 (ZNF215), mRNA.	36			N -> S (in dbSNP:rs11041107).		viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		CAGGAAACCAACCCCGTCGTG	0.493000														67			29		0	0	0.000184323	0	0
GALNTL2	117248	broad.mit.edu	37	3	16264263	16264263	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr3:16264263G>A	uc003car.4	+	8	2246	c.1771G>A	c.(1771-1773)Gag>Aag	p.E591K	GALNTL2_uc003caq.4_Missense_Mutation_p.E324K|GALNTL2_uc003cas.4_Missense_Mutation_p.E121K	NM_054110	NP_473451	Q8N3T1	GLTL2_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2 (GALNTL2), mRNA.	591	Ricin B-type lectin.					Golgi membrane|integral to membrane|transport vesicle	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|breast(3)|endometrium(4)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(1)|stomach(1)	33						GGACTTCCAGGAGGTGAGTAA	0.557000														6			24		0	0	0.000375601	0	0
TCRA	0	broad.mit.edu	37	14	22694915	22694915	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr14:22694915G>A	uc010ajp.1	+	1	151	c.106G>A	c.(106-108)Gag>Aag	p.E36K	TCRA_uc001wbw.2_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpr.1_Intron|TCRA_uc001wdd.2_Intron|TCRA_uc010ajj.1_Intron|TCRA_uc001wde.1_Intron|TCRA_uc010ajk.2_Intron|TCRA_uc001wdg.1_Intron|TCRA_uc021rpt.1_Intron|TCRA_uc010ajl.1_Intron|AV4S1_uc021rpv.1_Intron|TCRA_uc010ajo.1_Intron|TCRA_uc021rpw.1_Non-coding_Transcript					SubName: Full=HADV36S1; Flags: Fragment;																		GGTTGTCCACGAGGGAGACAC	0.438000														35			28		0	0	0.000147802	0	0
TMEM225	338661	broad.mit.edu	37	11	123755980	123755980	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr11:123755980C>T	uc001pzi.3	-	0	361	c.153G>A	c.(151-153)atG>atA	p.M51I		NM_001013743	NP_001013765	Q6GV28	TM225_HUMAN	Homo sapiens transmembrane protein 225 (TMEM225), mRNA.	51						integral to membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						GGCAACACATCATCCAAGGAC	0.458000														57			26		0	0	0.000586117	0	0
TRPC4	7223	broad.mit.edu	37	13	38237678	38237678	+	Silent	SNP	G	A	A			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr13:38237678G>A	uc010abx.3	-	5	1798	c.1563C>T	c.(1561-1563)ttC>ttT	p.F521F	TRPC4_uc010abv.3_Silent_p.F101F|TRPC4_uc001uwt.3_Silent_p.F521F|TRPC4_uc001uws.3_Silent_p.F521F|TRPC4_uc010tey.2_Silent_p.F521F|TRPC4_uc010abw.3_Silent_p.F348F|TRPC4_uc010aby.3_Silent_p.F521F	NM_003306	NP_003297	Q9UBN4	TRPC4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 4 (TRPC4), transcript variant epsilon, mRNA.	521					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		GGCAGTATATGAATAGAAACT	0.403000														39			18		0	0	0.000132079	0	0
ZNF488	118738	broad.mit.edu	37	10	48370853	48370853	+	Silent	SNP	G	A	A			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr10:48370853G>A	uc001jex.3	+	1	483	c.321G>A	c.(319-321)agG>agA	p.R107R	ZNF488_uc021ppx.1_Silent_p.R107R	NM_153034	NP_694579	Q96MN9	ZN488_HUMAN	Homo sapiens zinc finger protein 488 (ZNF488), mRNA.	107					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						AGCTGCCGAGGATGAAGGACC	0.662000														2			12		0	0	6.40141e-05	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19409768	19409768	+	RNA	SNP	G	A	A			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr13:19409768G>A	uc010tcj.1	-	0		c.36342C>T								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		CTTTCCAGTGGATTTACTGAC	0.388000														76			48		0	0	0.000147903	0	0
CELSR2	1952	broad.mit.edu	37	1	109803706	109803707	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr1:109803706_109803707CG>AT	uc001dxa.4	+	2	4062_4063	c.4001_4002CG>AT	c.(4000-4002)ccg>cAT	p.P1334H		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 2 (flamingo homolog, Drosophila) (CELSR2), mRNA.	1334	EGF-like 3; calcium-binding.				Wnt receptor signaling pathway|dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent	cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CGTTGCACCCCGGGTGTCTGCA	0.589000														311			10		0	0	6.4e-05	0	0
SNAPC2	6618	broad.mit.edu	37	19	7986931	7986931	+	Silent	SNP	C	T	T			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr19:7986931C>T	uc002miw.2	+	3	442	c.384C>T	c.(382-384)atC>atT	p.I128I	SNAPC2_uc002mix.2_Non-coding_Transcript	NM_003083	NP_003074	Q13487	SNPC2_HUMAN	Homo sapiens small nuclear RNA activating complex, polypeptide 2, 45kDa (SNAPC2), transcript variant 1, mRNA.	128					snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	sequence-specific DNA binding transcription factor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						TGCTCACCATCGCGGCCACGG	0.627000														97			63		0	0	0.000147903	0	0
PITX2	5308	broad.mit.edu	37	4	111542323	111542323	+	Silent	SNP	G	A	A			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr4:111542323G>A	uc003iaf.3	-	5	2210	c.387C>T	c.(385-387)gtC>gtT	p.V129V	PITX2_uc003iac.3_Silent_p.V136V|PITX2_uc003iad.3_Silent_p.V129V|PITX2_uc021xqr.1_Silent_p.V129V|PITX2_uc003iae.3_Silent_p.V83V|PITX2_uc021xqs.1_Silent_p.V83V|PITX2_uc003iag.1_Silent_p.V136V	NM_001204397	NP_001191326	Q99697	PITX2_HUMAN	Homo sapiens paired-like homeodomain 2 (PITX2), transcript variant 4, mRNA.	129			Missing (in RIEG1; more than 100-fold reduction in DNA binding activity as well as no detectable transactivation activity).|V -> L (in RIEG1; more than 200% increase in transactivation activity).		determination of left/right symmetry|organ morphogenesis	transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		CTCCTACCCGGACTCGGGCTT	0.612000														21			16		0	0	0.000422831	0	0
FRG1B	284802	broad.mit.edu	37	20	29628263	29628263	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr20:29628263A>G	uc010ztl.1	+	2	207	c.175A>G	c.(175-177)Att>Gtt	p.I59V	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Missense_Mutation_p.I11V					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.I89V(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TAGCTGCTTTATTAGATGCAA	0.363000														75			4		0	0	3.59834e-05	0	0
GGT6	124975	broad.mit.edu	37	17	4463750	4463750	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr17:4463750C>T	uc010vsc.2	-	0	127	c.67G>A	c.(67-69)Gag>Aag	p.E23K	GGT6_uc010vsb.2_5'Flank|GGT6_uc002fyd.4_Missense_Mutation_p.E23K|GGT6_uc002fyc.4_Missense_Mutation_p.E23K	NM_001122890	NP_001116362	Q6P531	GGT6_HUMAN	Homo sapiens gamma-glutamyltransferase 6 (GGT6), transcript variant 1, mRNA.	23	Poly-Glu.				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			endometrium(2)|large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						ACTTCCTCCTCCGACTCCAAG	0.642000														40			31		0	0	0.000409698	0	0
GRM1	2911	broad.mit.edu	37	6	146625858	146625858	+	Silent	SNP	C	T	T			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr6:146625858C>T	uc010khw.1	+	3	1532	c.1062C>T	c.(1060-1062)ttC>ttT	p.F354F	GRM1_uc010khv.1_Silent_p.F354F|GRM1_uc003qll.2_Silent_p.F354F|GRM1_uc011edz.1_Silent_p.F354F|GRM1_uc011eea.1_Silent_p.F354F	NM_000838	NP_000829	Q13255	GRM1_HUMAN	Homo sapiens glutamate receptor, metabotropic 1 (GRM1), transcript variant 1, mRNA.	354					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	ATGATTATTTCCTGAAACTGA	0.498000														12			30		0	0	0.000227799	0	0
PCSK5	5125	broad.mit.edu	37	9	78938053	78938053	+	Silent	SNP	C	T	T			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr9:78938053C>T	uc004akc.2	+	30	4645	c.4107C>T	c.(4105-4107)gtC>gtT	p.V1369V		NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	634					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	Golgi lumen|extracellular space|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GCCACTGTGTCCCCTGCCATA	0.572000														2			13		0	0	0.000151284	0	0
PSMC2	5701	broad.mit.edu	37	7	103008169	103008169	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr7:103008169C>T	uc003vbs.3	+	10	1245	c.1057C>T	c.(1057-1059)Cac>Tac	p.H353Y	SLC26A5_uc003vbt.2_Intron|SLC26A5_uc003vbu.2_Intron|SLC26A5_uc003vbv.2_Intron|PSMC2_uc011klo.2_Missense_Mutation_p.H216Y	NM_002803	NP_002794	P35998	PRS7_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, ATPase, 2 (PSMC2), transcript variant 1, mRNA.	353					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|interspecies interaction between organisms|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	21						GGGTCGGACCCACATATTTAA	0.333000														46			31		0	0	0.000279167	0	0
CATSPERB	79820	broad.mit.edu	37	14	92157878	92157878	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr14:92157878C>T	uc001xzs.1	-	9	993	c.853G>A	c.(853-855)Ggt>Agt	p.G285S		NM_024764	NP_079040	Q9H7T0	CTSRB_HUMAN	Homo sapiens cation channel, sperm-associated, beta (CATSPERB), mRNA.	285					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				CTTTCAAAACCACAAAAGTCT	0.328000														117			81		0	0	0.000147903	0	0
RPL13AP6	644511	broad.mit.edu	37	10	112696659	112696659	+	Silent	SNP	A	G	G			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr10:112696659A>G	uc010qrh.1	-	0	355	c.333T>C	c.(331-333)ccT>ccC	p.P111P	SHOC2_uc001kzl.4_Intron|SHOC2_uc009xxx.3_Intron|SHOC2_uc010qrg.2_Intron					Homo sapiens ribosomal protein L13a pseudogene 6 (RPL13AP6), non-coding RNA.									p.P111P(1)									TCTTGTCGTAAGGCGGTGGGA	0.577000														9			3		0	0	1.23904e-05	0	0
MMP2	4313	broad.mit.edu	37	16	55522457	55522457	+	Silent	SNP	C	T	T			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr16:55522457C>T	uc002ehz.4	+	5	1146	c.835C>T	c.(835-837)Ctg>Ttg	p.L279L	MMP2_uc010vhd.2_Silent_p.L203L|MMP2_uc010ccc.3_Silent_p.L229L	NM_004530	NP_004521	P08253	MMP2_HUMAN	Homo sapiens matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) (MMP2), transcript variant 1, mRNA.	279	Collagen-binding.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	ACCCTTAGCCCTGTTCACCAT	0.602000														12			8		0	0	0.000274275	0	0
ZC3HAV1	56829	broad.mit.edu	37	7	138764565	138764565	+	Silent	SNP	C	T	T			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr7:138764565C>T	uc003vun.3	-	3	1510	c.1122G>A	c.(1120-1122)aaG>aaA	p.K374K	ZC3HAV1_uc003vuo.3_5'Flank|ZC3HAV1_uc003vup.3_Silent_p.K374K	NM_020119	NP_064504	Q7Z2W4	ZCCHV_HUMAN	Homo sapiens zinc finger CCCH-type, antiviral 1 (ZC3HAV1), transcript variant 1, mRNA.	374					response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						AAAACACAGTCTTTCTCCTGG	0.542000														67			53		0	0	0.000147903	0	0
SLC5A3	6526	broad.mit.edu	37	21	35468710	35468711	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr21:35468710_35468711CG>AT	uc021wir.1	+	0	1213_1214	c.1213_1214CG>AT	c.(1213-1215)cgg>ATg	p.R405M	SLC5A3_uc002yto.3_Missense_Mutation_p.R405M|MRPS6_uc002ytp.2_Intron	NM_006933	NP_008864	P53794	SC5A3_HUMAN	Homo sapiens solute carrier family 5 (sodium/myo-inositol cotransporter), member 3 (SLC5A3), mRNA.	405						integral to plasma membrane	myo-inositol:sodium symporter activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						CGCAAGCTCCCGGGAGTTAATG	0.475000														693			13		0	0	6.4e-05	0	0
FLG	2312	broad.mit.edu	37	1	152280936	152280937	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr1:152280936_152280937CG>AT	uc001ezu.1	-	2	6461_6462	c.6425_6426CG>AT	c.(6424-6426)ccg>cAT	p.P2142H		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	2142	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)			TGCTTGGCCCCGGGTGTCCACG	0.574000									Ichthyosis					449			8		0	0	6.4e-05	0	0
UNC5D	137970	broad.mit.edu	37	8	35647892	35647892	+	Silent	SNP	C	T	T			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr8:35647892C>T	uc003xjr.2	+	16	3001	c.2673C>T	c.(2671-2673)ttC>ttT	p.F891F	UNC5D_uc003xjs.2_Silent_p.F886F|UNC5D_uc003xju.2_Silent_p.F467F|UNC5D_uc022atw.1_5'Flank	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	Homo sapiens unc-5 homolog D (C. elegans) (UNC5D), mRNA.	891	Death.				apoptosis|axon guidance	integral to membrane	receptor activity	p.S890R(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TATCTTATTTCGCTACACAAA	0.393000														55			41		0	0	0.000509022	0	0
MAGEA12	4111	broad.mit.edu	37	X	151896231	151896231	+	RNA	SNP	A	G	G			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chrX:151896231A>G	uc004fgb.3	-	3		c.548T>C						P43365	MAGAC_HUMAN	Homo sapiens melanoma antigen family A, 12 (MAGEA12), transcript variant 3, mRNA.											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)					GAGTGGCTGGATAGTGTTGGC	0.517000														17			7		0	0	0.000566183	0	0
SALL4	57167	broad.mit.edu	37	20	50406909	50406909	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr20:50406909A>T	uc002xwh.4	-	1	2214	c.2113T>A	c.(2113-2115)Tcc>Acc	p.S705T	SALL4_uc010gii.3_Intron|SALL4_uc002xwi.4_Intron	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	Homo sapiens sal-like 4 (Drosophila) (SALL4), mRNA.	705					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ACCTTGGAGGAGCTGCTGGGA	0.597000														31			18		0	0	0.000175454	0	0
CCNE2	9134	broad.mit.edu	37	8	95893939	95893940	+	Missense_Mutation	DNP	CC	AA	AA	rs66572393		TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr8:95893939_95893940CC>AA	uc003yhc.3	-	11	1239_1240	c.1135_1136GG>TT	c.(1135-1137)ggg>TTg	p.G379L		NM_057749	NP_477097	O96020	CCNE2_HUMAN	Homo sapiens cyclin E2 (CCNE2), mRNA.	379					G1/S transition of mitotic cell cycle|cell cycle checkpoint|cell division|regulation of cyclin-dependent protein kinase activity	cytosol|nucleoplasm	protein kinase binding			cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1)	11	Breast(36;8.75e-07)					CAACTGTCCCCCTTTTCTGAAG	0.396000														692			13		0	0	6.4e-05	0	0
SERPINA3	12	broad.mit.edu	37	14	95088748	95088748	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr14:95088748C>T	uc001ydp.3	+	3	1147	c.988C>T	c.(988-990)Cag>Tag	p.Q330*	SERPINA3_uc001ydo.4_Nonsense_Mutation_p.Q355*|SERPINA3_uc001ydr.3_Non-coding_Transcript|SERPINA3_uc021sbb.1_Intron|SERPINA3_uc010avg.3_Nonsense_Mutation_p.Q330*|SERPINA3_uc001yds.3_Nonsense_Mutation_p.Q330*	NM_001085	NP_001076	P01011	AACT_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 (SERPINA3), mRNA.	330					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		CATACTTCTCCAGCTGGGCAT	0.488000														42			27		0	0	0.000227799	0	0
TEX15	56154	broad.mit.edu	37	8	30705724	30705724	+	Silent	SNP	G	A	A			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr8:30705724G>A	uc003xil.3	-	0	810	c.810C>T	c.(808-810)atC>atT	p.I270I		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	270										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		CTATTGGACTGATTTTTGTTT	0.313000														14			43		0	0	0.000270559	0	0
SENP2	59343	broad.mit.edu	37	3	185337190	185337191	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr3:185337190_185337191GG>TT	uc003fpn.3	+	12	1517_1518	c.1346_1347GG>TT	c.(1345-1347)ggg>gTT	p.G449V	SENP2_uc011brv.2_Missense_Mutation_p.G439V|SENP2_uc011brw.2_Missense_Mutation_p.G262V	NM_021627	NP_067640	Q9HC62	SENP2_HUMAN	Homo sapiens SUMO1/sentrin/SMT3 specific peptidase 2 (SENP2), mRNA.	449	Protease.				Wnt receptor signaling pathway|mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport	cytoplasm|nuclear membrane|nuclear pore	SUMO-specific protease activity|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			TTAAAGTCTGGGGGTTACCAAG	0.386000														555			10		0	0	6.4e-05	0	0
CDR1	1038	broad.mit.edu	37	X	139865915	139865915	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chrX:139865915C>T	uc004fbg.1	-	0	809	c.617G>A	c.(616-618)tGg>tAg	p.W206*	AK054921_uc004fbf.1_Non-coding_Transcript	NM_004065	NP_004056	P51861	CDR1_HUMAN	Homo sapiens cerebellar degeneration-related protein 1, 34kDa (CDR1), mRNA.	206	5 X 6 AA approximate repeats.									breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				GGAAAAAATCCAGGTCTTCCA	0.448000														24			75		0	0	0.000147903	0	0
LPHN3	23284	broad.mit.edu	37	4	62813993	62813993	+	Splice_Site	SNP	A	G	G			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr4:62813993A>G	uc010ihh.3	+	14	2774	c.2601_splice	c.e14+1	p.K867_splice	LPHN3_uc003hcq.4_Splice_Site_p.K867_splice|LPHN3_uc003hct.3_Splice_Site_p.K260_splice	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	Homo sapiens latrophilin 3 (LPHN3), mRNA.	854					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						GTGGAAGTTAAGGTAAGATAT	0.343000														26			18		0	0	9.7654e-05	0	0
FCRL1	115350	broad.mit.edu	37	1	157771705	157771705	+	Splice_Site	SNP	C	T	T			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr1:157771705C>T	uc001frg.3	-	5	999	c.886_splice	c.e5+1	p.V296_splice	FCRL1_uc001frf.3_Splice_Site|FCRL1_uc001frh.3_Splice_Site_p.V296_splice|FCRL1_uc001fri.3_Splice_Site_p.G296_splice|FCRL1_uc001frj.3_Splice_Site	NM_052938	NP_443170	Q96LA6	FCRL1_HUMAN	Homo sapiens Fc receptor-like 1 (FCRL1), transcript variant 1, mRNA.	296						integral to membrane|plasma membrane	receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TGAGCTATACCTGTGAAGTTG	0.552000														47			39		0	0	0.000437636	0	0
VWA7	80737	broad.mit.edu	37	6	31744326	31744326	+	Silent	SNP	G	A	A			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr6:31744326G>A	uc011dog.2	-	1	469	c.231C>T	c.(229-231)ttC>ttT	p.F77F	VWA7_uc003nxd.2_5'UTR|VWA7_uc011doh.1_Non-coding_Transcript	NM_025258	NP_079534	Q9Y334	G7C_HUMAN	Homo sapiens von Willebrand factor A domain containing 7 (VWA7), mRNA.	77						extracellular region											TGCTCACCAGGAAGTCCTCAA	0.622000														103			107		0	0	0.000147903	0	0
CPQ	10404	broad.mit.edu	37	8	97797463	97797463	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr8:97797463G>T	uc003yhw.3	+	1	504	c.338G>T	c.(337-339)tGg>tTg	p.W113L	CPQ_uc010mbe.2_Missense_Mutation_p.W113L	NM_016134	NP_057218	Q9Y646	PGCP_HUMAN	Homo sapiens plasma glutamate carboxypeptidase (PGCP), mRNA.	113					peptide metabolic process|proteolysis	cytoplasm|extracellular space	metal ion binding|metallocarboxypeptidase activity										ATACCCCACTGGGAGAGGGGA	0.498000														52			17		3.99206e-14	1.12967e-12	9.7654e-05	1	0
CACNB2	783	broad.mit.edu	37	10	18828608	18828608	+	Silent	SNP	G	A	A			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr10:18828608G>A	uc001ipr.2	+	13	1998	c.1938G>A	c.(1936-1938)cgG>cgA	p.R646R	CACNB2_uc001ipt.2_Silent_p.R608R|CACNB2_uc009xjz.1_Silent_p.R396R|CACNB2_uc001ips.2_Silent_p.R622R|CACNB2_uc001ipu.3_Silent_p.R618R|CACNB2_uc001ipv.3_Silent_p.R594R|CACNB2_uc009xka.2_Silent_p.R580R|CACNB2_uc001ipw.2_Silent_p.R553R|CACNB2_uc001ipx.2_Silent_p.R591R|CACNB2_uc001ipz.2_Silent_p.R568R|CACNB2_uc001ipy.2_Silent_p.R592R|CACNB2_uc010qco.1_Silent_p.R560R|CACNB2_uc001iqa.2_Silent_p.R598R|NSUN6_uc001iqb.3_Intron	NM_201596	NP_963890	Q08289	CACB2_HUMAN	Homo sapiens calcium channel, voltage-dependent, beta 2 subunit (CACNB2), transcript variant 2, mRNA.	646					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CAAAAAAACGGAATGAGGCTG	0.423000														40			25		0	0	0.000279167	0	0
GPAA1	8733	broad.mit.edu	37	8	145139185	145139185	+	Silent	SNP	C	T	T			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr8:145139185C>T	uc003zax.3	+	5	875	c.765C>T	c.(763-765)ttC>ttT	p.F255F	GPAA1_uc003zav.1_Silent_p.F133F|GPAA1_uc003zaw.1_Silent_p.F195F	NM_003801	NP_003792	O43292	GPAA1_HUMAN	Homo sapiens glycosylphosphatidylinositol anchor attachment protein 1 homolog (yeast) (GPAA1), mRNA.	255					C-terminal protein lipidation|attachment of GPI anchor to protein|protein complex assembly|protein retention in ER lumen	GPI-anchor transamidase complex	tubulin binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(2)	19	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TCAATCTCTTCCAGACCTTCT	0.642000														47			57		0	0	0.000147903	0	0
PEX5L	51555	broad.mit.edu	37	3	179593214	179593214	+	Missense_Mutation	SNP	C	T	T	rs143237596		TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr3:179593214C>T	uc003fki.1	-	5	687	c.557G>A	c.(556-558)cGa>cAa	p.R186Q	PEX5L_uc011bqd.1_Missense_Mutation_p.R143Q|PEX5L_uc011bqe.1_5'UTR|PEX5L_uc011bqf.1_Missense_Mutation_p.R78Q|PEX5L_uc003fkj.1_Missense_Mutation_p.R151Q|PEX5L_uc010hxd.1_Missense_Mutation_p.R184Q|PEX5L_uc011bqg.1_Missense_Mutation_p.R162Q|PEX5L_uc011bqh.1_Missense_Mutation_p.R127Q	NM_016559	NP_057643	Q8IYB4	PEX5R_HUMAN	Homo sapiens peroxisomal biogenesis factor 5-like (PEX5L), mRNA.	186					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding	p.R186R(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			CTTGGTATTTCGATCTCCATG	0.448000														47			32		0	0	0.000339439	0	0
ZNF408	79797	broad.mit.edu	37	11	46726807	46726807	+	Silent	SNP	C	A	A	rs148867575		TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr11:46726807C>A	uc001nde.2	+	4	1838	c.1557C>A	c.(1555-1557)acC>acA	p.T519T	ZNF408_uc010rgw.2_Silent_p.T511T	NM_024741	NP_079017	Q9H9D4	ZN408_HUMAN	Homo sapiens zinc finger protein 408 (ZNF408), transcript variant 1, mRNA.	519					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding	p.H518H(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GGCTCCACACCGGGGAGCGTC	0.637000														33			36		2.28855e-06	6.34788e-05	0.000132358	1	0
ITGAL	3683	broad.mit.edu	37	16	30522249	30522249	+	Silent	SNP	G	A	A			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr16:30522249G>A	uc002dyi.4	+	22	2843	c.2667G>A	c.(2665-2667)ggG>ggA	p.G889G	ITGAL_uc002dyj.4_Silent_p.G805G|ITGAL_uc010vev.2_Silent_p.G123G	NM_002209	NP_002200	P20701	ITAL_HUMAN	Homo sapiens integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) (ITGAL), transcript variant 1, mRNA.	889					T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	cell adhesion molecule binding|receptor activity	p.G889W(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	GCTCCTGGGGGGACTCGGTTG	0.567000														31			22		0	0	0.000295444	0	0
KDR	3791	broad.mit.edu	37	4	55956162	55956162	+	Silent	SNP	C	T	T			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr4:55956162C>T	uc003has.3	-	22	3455	c.3153G>A	c.(3151-3153)cgG>cgA	p.R1051R	KDR_uc003hat.1_Silent_p.R1051R	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	1051	Protein kinase.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|Hsp90 protein binding|growth factor binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	p.R1051Q(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	TATAAATATCCCGGGCCAAGC	0.413000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)				49			38		0	0	0.000132358	0	0
EPPK1	83481	broad.mit.edu	37	8	144940332	144940333	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr8:144940332_144940333GG>AA	uc003zaa.1	-	0	7102_7103	c.7089_7090CC>TT	c.(7087-7092)taccgg>taTTgg	p.R2364W		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	2364						cytoplasm|cytoskeleton	protein binding|structural molecule activity	p.R2364Q(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TAGCCGCGCCGGTAGGCCACGT	0.688000														564			19		0	0	6.4e-05	0	0
GALNT1	2589	broad.mit.edu	37	18	33257586	33257586	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr18:33257586C>T	uc010dmu.3	+	3	399	c.346C>T	c.(346-348)Cct>Tct	p.P116S	GALNT1_uc002kyz.4_Missense_Mutation_p.P56S|GALNT1_uc002kzb.3_Missense_Mutation_p.P116S	NM_020474	NP_065207	Q10472	GALT1_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1) (GALNT1), mRNA.	116	Catalytic subdomain A.				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|extracellular region|integral to membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1)	21						AGATAATCTTCCTACAACAAG	0.388000														20			48		0	0	0.000147903	0	0
ATP9A	10079	broad.mit.edu	37	20	50286611	50286611	+	Silent	SNP	G	A	A			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr20:50286611G>A	uc002xwg.1	-	12	1218	c.1218C>T	c.(1216-1218)ctC>ctT	p.L406L	ATP9A_uc010gih.1_Silent_p.L270L|ATP9A_uc002xwf.1_Intron	NM_006045	NP_006036	O75110	ATP9A_HUMAN	Homo sapiens ATPase, class II, type 9A (ATP9A), mRNA.	406					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TTCCGAGATGGAGCCGTTTGA	0.453000														67			41		0	0	0.000509022	0	0
PARP4	143	broad.mit.edu	37	13	25044068	25044068	+	Silent	SNP	G	A	A	rs146166448	by1000genomes	TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr13:25044068G>A	uc001upl.3	-	15	2116	c.2010C>T	c.(2008-2010)ttC>ttT	p.F670F	PARP4_uc010tdc.2_Silent_p.F670F	NM_006437	NP_006428	Q9UKK3	PARP4_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 4 (PARP4), mRNA.	670	VIT.				DNA repair|cell death|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|NAD+ ADP-ribosyltransferase activity|enzyme binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		TGAAGGCTTCGAAGCCACACA	0.458000														27			23		0	0	0.000184323	0	0
CRYM	1428	broad.mit.edu	37	16	21273402	21273402	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr16:21273402G>T	uc002dim.3	-	7	1049	c.751C>A	c.(751-753)Cag>Aag	p.Q251K	CRYM_uc010bwq.1_Non-coding_Transcript|CRYM_uc002dil.3_Missense_Mutation_p.Q209K	NM_001888	NP_001014444	Q14894	CRYM_HUMAN	Homo sapiens crystallin, mu (CRYM), transcript variant 1, mRNA.	251					negative regulation of transcription from RNA polymerase II promoter|sensory perception of sound|thyroid hormone transport	cytoplasm|nucleus|plasma membrane	NADP binding|protein homodimerization activity|thyroid hormone binding|transcription corepressor activity			large_intestine(1)|lung(3)	4				GBM - Glioblastoma multiforme(48;0.0573)	Levothyroxine(DB00451)	GCAGCCTCCTGGGAATCCACG	0.577000														28			23		6.21321e-17	1.77615e-15	0.000375601	1	0
DLGAP5	9787	broad.mit.edu	37	14	55655776	55655776	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr14:55655776C>T	uc001xbs.3	-	1	339	c.122G>A	c.(121-123)cGa>cAa	p.R41Q	DLGAP5_uc001xbt.3_Missense_Mutation_p.R41Q	NM_014750	NP_055565	Q15398	DLGP5_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 5 (DLGAP5), transcript variant 1, mRNA.	41					cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition	nucleus|spindle pole centrosome	phosphoprotein phosphatase activity|protein binding			biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						GTGTCTATTTCGTTCGTATTC	0.353000														40			27		0	0	0.000227799	0	0
SLC5A3	6526	broad.mit.edu	37	21	35468727	35468728	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr21:35468727_35468728GG>TT	uc021wir.1	+	0	1230_1231	c.1230_1231GG>TT	c.(1228-1233)gtgggg>gtTTgg	p.G411W	SLC5A3_uc002yto.3_Missense_Mutation_p.G411W|MRPS6_uc002ytp.2_Intron	NM_006933	NP_008864	P53794	SC5A3_HUMAN	Homo sapiens solute carrier family 5 (sodium/myo-inositol cotransporter), member 3 (SLC5A3), mRNA.	411						integral to plasma membrane	myo-inositol:sodium symporter activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						TAATGATTGTGGGGAGGATATT	0.470000														698			12		0	0	6.4e-05	0	0
KCNE1	3753	broad.mit.edu	37	21	35821640	35821641	+	Missense_Mutation	DNP	CG	AT	AT	rs150454912		TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr21:35821640_35821641CG>AT	uc021wit.1	-	0	292_293	c.292_293CG>AT	c.(292-294)cgg>ATg	p.R98M	KCNE1_uc010gmp.3_Missense_Mutation_p.R98M|KCNE1_uc002ytz.3_Missense_Mutation_p.R98M|KCNE1_uc010gmq.3_Missense_Mutation_p.R98M|KCNE1_uc010gmr.3_Missense_Mutation_p.R98M|KCNE1_uc010gms.3_Missense_Mutation_p.R98M|KCNE1_uc002yua.3_Non-coding_Transcript	NM_001127670	NP_001121142	P15382	KCNE1_HUMAN	Homo sapiens potassium voltage-gated channel, Isk-related family, member 1 (KCNE1), transcript variant 1, mRNA.	98			R -> W (in LQT5).		blood circulation|membrane depolarization|muscle contraction|sensory perception of sound	lysosome	delayed rectifier potassium channel activity|potassium channel regulator activity			large_intestine(4)|lung(1)|ovary(2)	7					Indapamide(DB00808)	CTCCAGGACCCGGGCCTGGACA	0.550000														638			9		0	0	6.4e-05	0	0
ABCB1	5243	broad.mit.edu	37	7	87144604	87144604	+	Silent	SNP	C	T	T			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr7:87144604C>T	uc003uiz.2	-	25	3718	c.3225G>A	c.(3223-3225)ggG>ggA	p.G1075G	ABCB1_uc011khc.2_Silent_p.G1011G	NM_000927	NP_000918	P08183	MDR1_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	1075	ABC transporter 2.				G2/M transition of mitotic cell cycle|stem cell proliferation	Golgi membrane|apical plasma membrane|cell surface|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	CTGTGCTCTTCCCACAGCCAC	0.572000														40			18		0	0	0.000566183	0	0
PIK3CB	5291	broad.mit.edu	37	3	138403527	138403528	+	Missense_Mutation	DNP	CG	AT	AT	rs140578043		TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr3:138403527_138403528CG>AT	uc011bmq.2	-	14	2254_2255	c.2254_2255CG>AT	c.(2254-2256)cgg>ATg	p.R752M	PIK3CB_uc011bmn.2_Missense_Mutation_p.R264M|PIK3CB_uc011bmo.2_Missense_Mutation_p.R198M|PIK3CB_uc011bmp.2_Missense_Mutation_p.R339M	NM_006219	NP_006210	P42338	PK3CB_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, beta polypeptide (PIK3CB), transcript variant 1, mRNA.	752					G-protein coupled receptor protein signaling pathway|T cell receptor signaling pathway|activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						GAGGGCTTCCCGGTAAGCACTC	0.436000														643			12		0	0	6.4e-05	0	0
DPY19L4	286148	broad.mit.edu	37	8	95795929	95795930	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr8:95795929_95795930GG>TT	uc003ygx.2	+	16	1871_1872	c.1747_1748GG>TT	c.(1747-1749)ggg>TTg	p.G583L		NM_181787	NP_861452	Q7Z388	D19L4_HUMAN	Homo sapiens dpy-19-like 4 (C. elegans) (DPY19L4), mRNA.	583						integral to membrane				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21	Breast(36;3.85e-06)					TGTGTTTGCAGGGAGTCCACAG	0.391000														575			12		0	0	6.4e-05	0	0
LIG1	3978	broad.mit.edu	37	19	48664688	48664688	+	Silent	SNP	G	T	T	rs3730863		TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr19:48664688G>T	uc002pia.1	-	3	304	c.184C>A	c.(184-186)Cgg>Agg	p.R62R	LIG1_uc002phz.1_Non-coding_Transcript|LIG1_uc002pib.1_Non-coding_Transcript|LIG1_uc010xzf.1_Silent_p.R62R|LIG1_uc010xzg.1_Silent_p.R32R|LIG1_uc010xzh.1_Non-coding_Transcript	NM_000234	NP_000225	P18858	DNLI1_HUMAN	Homo sapiens ligase I, DNA, ATP-dependent (LIG1), mRNA.	62			R -> W (in dbSNP:rs3730863).		DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle|anatomical structure morphogenesis|base-excision repair|cell division|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	CCCAGGACCCGGGCCGCCTTC	0.607000								Nucleotide excision repair (NER)						177			6		8.12818e-05	0.00223246	8.12818e-05	1	0
FAM47A	158724	broad.mit.edu	37	X	34150006	34150007	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chrX:34150006_34150007GG>AA	uc004ddg.3	-	0	441_442	c.389_390CC>TT	c.(388-390)ccc>cTT	p.P130L		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA.	130										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						ACATGGCCAAGGGATGCTTGGC	0.559000														18			40		0	0	6.4e-05	0	0
SLC44A4	80736	broad.mit.edu	37	6	31833650	31833651	+	Splice_Site	DNP	CG	AT	AT			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr6:31833650_31833651CG>AT	uc010jti.3	-	14	1553	c.1487_splice	c.e14+1	p.R496_splice	NEU1_uc003nxq.4_5'Flank|SLC44A4_uc011dol.2_Splice_Site_p.R420_splice|SLC44A4_uc011dom.2_Splice_Site_p.R454_splice	NM_025257	NP_079533	Q53GD3	CTL4_HUMAN	Homo sapiens solute carrier family 44, member 4 (SLC44A4), transcript variant 1, mRNA.	496						integral to membrane|plasma membrane	choline transmembrane transporter activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	CCATCCTTACCGGAGTGTGCGG	0.604000														266			8		0	0	6.4e-05	0	0
GBP6	163351	broad.mit.edu	37	1	89846141	89846141	+	Silent	SNP	T	G	G			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr1:89846141T>G	uc001dnf.2	+	5	1096	c.822T>G	c.(820-822)acT>acG	p.T274T	GBP6_uc010ost.1_Silent_p.T144T	NM_198460	NP_940862	Q6ZN66	GBP6_HUMAN	Homo sapiens guanylate binding protein family, member 6 (GBP6), mRNA.	274							GTP binding|GTPase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		ACATCTTCACTCATGCAAGAA	0.418000														14			20		0	0	0.000175454	0	0
MADD	8567	broad.mit.edu	37	11	47345360	47345360	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr11:47345360C>A	uc001ner.1	+	30	4707	c.4516C>A	c.(4516-4518)Cag>Aag	p.Q1506K	MADD_uc001neq.2_Missense_Mutation_p.Q1447K|MADD_uc001nev.1_Missense_Mutation_p.Q1404K|MADD_uc001nes.1_Missense_Mutation_p.Q1424K|MADD_uc001net.1_Missense_Mutation_p.Q1467K|MADD_uc009yln.1_Missense_Mutation_p.Q1400K|MADD_uc001neu.1_Missense_Mutation_p.Q1404K|MADD_uc001nez.2_Missense_Mutation_p.Q1403K|MADD_uc001new.2_Missense_Mutation_p.Q1446K|MADD_uc001nex.2_Missense_Mutation_p.Q1506K|MADD_uc009ylo.3_Missense_Mutation_p.Q420K	NM_003682	NP_003673	Q8WXG6	MADD_HUMAN	Homo sapiens MAP-kinase activating death domain (MADD), transcript variant 4, mRNA.	1506					activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	Rab guanyl-nucleotide exchange factor activity|death receptor binding|protein kinase activator activity			breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		CTCTGAGACCCAGCTCAACAA	0.463000														20			31		3.76114e-14	1.06973e-12	0.000132358	1	0
XIRP2	129446	broad.mit.edu	37	2	168099467	168099467	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr2:168099467C>T	uc002udx.3	+	8	1654	c.1565C>T	c.(1564-1566)tCt>tTt	p.S522F	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.S347F|XIRP2_uc010fpq.3_Missense_Mutation_p.S300F|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	347					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGTGAAGTTTCTGAGATTGTT	0.328000														3			11		0	0	6.40141e-05	0	0
IQGAP1	8826	broad.mit.edu	37	15	90984786	90984786	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr15:90984786C>T	uc002bpl.1	+	7	799	c.698C>T	c.(697-699)cCa>cTa	p.P233L		NM_003870	NP_003861	P46940	IQGA1_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 1 (IQGAP1), mRNA.	233					energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	GTPase inhibitor activity|Ras GTPase activator activity|calmodulin binding|protein phosphatase binding			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			CGTAGAATTCCAGCCGACACA	0.363000														32			35		0	0	0.000132358	0	0
LRP6	4040	broad.mit.edu	37	12	12274267	12274268	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr12:12274267_12274268CC>AA	uc001rah.4	-	22	4776_4777	c.4634_4635GG>TT	c.(4633-4635)cgg>cTT	p.R1545L	BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Missense_Mutation_p.R1500L	NM_002336	NP_002327	O75581	LRP6_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 6 (LRP6), mRNA.	1545					Wnt receptor signaling pathway involved in dorsal/ventral axis specification|cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	Wnt-protein binding|coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				AGGTCATTCTCCGACTAGGAGC	0.535000														894			15		0	0	6.4e-05	0	0
CACNA1E	777	broad.mit.edu	37	1	181680102	181680103	+	Frame_Shift_Del	DEL	AG	-	-			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr1:181680102_181680103delAG	uc009wxt.3	+	7	1263_1264	c.1068_1069delAG	c.(1066-1071)aaagagfs	p.K356fs	CACNA1E_uc001gow.3_Frame_Shift_Del_p.K356fs|CACNA1E_uc009wxs.3_Frame_Shift_Del_p.K356fs	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	356					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AATTTGCCAAAGAGAGAGAGAG	0.510													---	113	---	---	7	---					
VRK2	7444	broad.mit.edu	37	2	58312026	58312026	+	Frame_Shift_Del	DEL	A	-	-			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr2:58312026delA	uc002rzo.2	+	6	942	c.197delA	c.(196-198)gaafs	p.E66fs	VRK2_uc010fcb.2_Frame_Shift_Del_p.E66fs|VRK2_uc002rzt.3_5'UTR|VRK2_uc002rzs.3_Frame_Shift_Del_p.E66fs|VRK2_uc002rzv.3_Frame_Shift_Del_p.E66fs|VRK2_uc010fcd.3_Frame_Shift_Del_p.E43fs|VRK2_uc002rzu.3_Frame_Shift_Del_p.E66fs|VRK2_uc010fcc.3_Intron|VRK2_uc002rzp.3_Frame_Shift_Del_p.E66fs|VRK2_uc010ypg.2_Frame_Shift_Del_p.E66fs|VRK2_uc010yph.1_5'Flank	NM_001130482	NP_001123954	Q86Y07	VRK2_HUMAN	Homo sapiens vaccinia related kinase 2 (VRK2), transcript variant 4, mRNA.	66	Protein kinase.					integral to membrane	ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	24						GAATATCAAGAAAATGGCCCG	0.259													---	4	---	---	2	---					
HEATR5A	25938	broad.mit.edu	37	14	31852869	31852869	+	Frame_Shift_Del	DEL	G	-	-			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr14:31852869delG	uc001wrf.4	-	9	1639	c.1454delC	c.(1453-1455)acafs	p.T485fs	HEATR5A_uc010ami.3_Frame_Shift_Del_p.T90fs|HEATR5A_uc001wrg.1_Frame_Shift_Del_p.T74fs|HEATR5A_uc010tpk.1_Frame_Shift_Del_p.T485fs	NM_015473	NP_056288	Q86XA9	HTR5A_HUMAN	Homo sapiens HEAT repeat containing 5A (HEATR5A), mRNA.	479							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		CAAGAGTGGTGTTAGGTAGGA	0.473													---	120	---	---	77	---					
PNN	5411	broad.mit.edu	37	14	39646845	39646866	+	Frame_Shift_Del	DEL	AGAGACCTTATCCAGGATCAAA	-	-			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr14:39646845_39646866delAGAGACCTTATCCAGGATCAAA	uc001wuw.4	+	4	473_494	c.376_397delAGAGACCTTATCCAGGATCAAA	c.(376-399)agagaccttatccaggatcaaaatfs	p.R126fs		NM_002687	NP_002678	Q9H307	PININ_HUMAN	Homo sapiens pinin, desmosome associated protein (PNN), mRNA.	126	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)		GCGCACACGTAGAGACCTTATCCAGGATCAAAATATGGATGA	0.401													---	140	---	---	27	---					
