Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
HIVEP3	59269	broad.mit.edu	37	1	42047174	42047174	+	Missense_Mutation	SNP	G	G	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr1:42047174G>A	ENST00000372584.1	-	3	4309	c.3295C>T	c.(3295-3297)Ccg>Tcg	p.P1099S	HIVEP3_ENST00000429157.2_Missense_Mutation_p.P1099S|HIVEP3_ENST00000372583.1_Missense_Mutation_p.P1099S|HIVEP3_ENST00000247584.5_Missense_Mutation_p.P1099S	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1099					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TTGCCTCCCGGGGGTCCACCA	0.612000													23	63					0	0	0.00229938	0	0
IGHV1OR16-3	28313	broad.mit.edu	37	16	32070612	32070612	+	RNA	SNP	A	A	C			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr16:32070612A>C	ENST00000566806.1	-	0	499																											GGTCTCCTGCAAGGCTTCTGG	0.552000													6	54					0	0	0.00198382	0	0
DMTN	2039	broad.mit.edu	37	8	21926979	21926979	+	Missense_Mutation	SNP	C	C	T			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr8:21926979C>T	ENST00000358242.3	+	6	837	c.344C>T	c.(343-345)cCc>cTc	p.P115L	DMTN_ENST00000517600.1_Missense_Mutation_p.P75L|DMTN_ENST00000443491.2_Missense_Mutation_p.P90L|DMTN_ENST00000265800.5_Missense_Mutation_p.P115L|DMTN_ENST00000519907.1_Missense_Mutation_p.P115L|DMTN_ENST00000432128.1_Missense_Mutation_p.P115L|DMTN_ENST00000523266.1_Missense_Mutation_p.P115L|DMTN_ENST00000415253.1_Missense_Mutation_p.P115L|DMTN_ENST00000381470.3_Missense_Mutation_p.P115L|DMTN_ENST00000523782.2_Missense_Mutation_p.P90L					dematin actin binding protein																		GCCTCGGCCCCCAGAACCACT	0.627000													8	42					0	0	0.000673444	0	0
PELP1	27043	broad.mit.edu	37	17	4577850	4577850	+	Missense_Mutation	SNP	C	C	T			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr17:4577850C>T	ENST00000301396.4	-	13	2194	c.1969G>A	c.(1969-1971)Ggg>Agg	p.G657R	PELP1_ENST00000574876.1_Missense_Mutation_p.G513R|PELP1_ENST00000572293.1_Missense_Mutation_p.G563R|PELP1_ENST00000436683.2_Missense_Mutation_p.G366R|PELP1_ENST00000269230.7_Intron			Q8IZL8	PELP1_HUMAN	proline, glutamate and leucine rich protein 1	513	Pro-rich.				transcription, DNA-dependent	cytoplasm|MLL1 complex	protein binding			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						TTGCTATCCCCTTTCCGGTGG	0.627000													12	36					0	0	0.000308642	0	0
KCTD18	130535	broad.mit.edu	37	2	201369606	201369606	+	Silent	SNP	G	G	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr2:201369606G>A	ENST00000359878.3	-	3	747	c.237C>T	c.(235-237)ccC>ccT	p.P79P	KCTD18_ENST00000409157.1_Silent_p.P79P|KCTD18_ENST00000468413.1_5'UTR	NM_152387.2	NP_689600.2	Q6PI47	KCD18_HUMAN	potassium channel tetramerization domain containing 18	79	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						GCTCATCTGTGGGAATCTGAA	0.433000													9	30					0	0	0.000274275	0	0
ZNF229	7772	broad.mit.edu	37	19	44934304	44934304	+	Missense_Mutation	SNP	C	C	T	rs146515421	by1000genomes	TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr19:44934304C>T	ENST00000291187.4	-	6	956	c.634G>A	c.(634-636)Gat>Aat	p.D212N	ZNF229_ENST00000591289.1_Intron|ZNF229_ENST00000588931.1_Missense_Mutation_p.D218N|CTC-512J12.4_ENST00000588655.1_RNA	NM_001278510.1	NP_001265439.1	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	218					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				CTGTCATCATCCCAGTTACAT	0.393000													14	74					0	0	0.00185496	0	0
OR10T2	128360	broad.mit.edu	37	1	158368507	158368507	+	Silent	SNP	G	G	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr1:158368507G>A	ENST00000334438.1	-	1	749	c.750C>T	c.(748-750)gtC>gtT	p.V250V		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	250					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					AGCCATAGTGGACAAAGACCA	0.512000													17	58					0	0	0.000566183	0	0
TTC23	64927	broad.mit.edu	37	15	99758900	99758900	+	Silent	SNP	C	C	T			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr15:99758900C>T	ENST00000394132.2	-	8	1291	c.474G>A	c.(472-474)gaG>gaA	p.E158E	TTC23_ENST00000394136.1_Silent_p.E158E|TTC23_ENST00000394129.2_Silent_p.E158E|TTC23_ENST00000394135.3_Silent_p.E158E|TTC23_ENST00000394130.1_Silent_p.E158E|TTC23_ENST00000558663.1_Silent_p.E158E|TTC23_ENST00000558613.1_Silent_p.E158E|TTC23_ENST00000262074.4_Silent_p.E158E			Q5W5X9	TTC23_HUMAN	tetratricopeptide repeat domain 23	158							binding			endometrium(2)|large_intestine(3)|lung(9)|urinary_tract(2)	16	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)			TTGTCAAATTCTCTGCAGCTT	0.393000													33	147					0	0	0.00283554	0	0
RBAK	57786	broad.mit.edu	37	7	5103551	5103551	+	Missense_Mutation	SNP	G	G	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr7:5103551G>A	ENST00000396912.1	+	5	983	c.464G>A	c.(463-465)gGa>gAa	p.G155E	RBAK_ENST00000407184.1_Intron|RBAK_ENST00000396904.2_Intron|RBAK_ENST00000353796.3_Missense_Mutation_p.G155E	NM_021163.3	NP_066986.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	155					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		AGTAGTGATGGAAGCTATGCT	0.343000													17	42					0	0	0.000566183	0	0
GTSF1	121355	broad.mit.edu	37	12	54854188	54854188	+	Silent	SNP	G	G	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr12:54854188G>A	ENST00000552397.1	-	7	1356	c.460C>T	c.(460-462)Ctg>Ttg	p.L154L	GTSF1_ENST00000552395.1_5'UTR|RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA|GTSF1_ENST00000305879.5_Silent_p.L154L			Q8WW33	GTSF1_HUMAN	gametocyte specific factor 1	154							metal ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(1001;0.00452)				ACATACGGCAGAGATTTGGGA	0.388000													21	20					0	0	0.00047179	0	0
OR10W1	81341	broad.mit.edu	37	11	58035171	58035171	+	Silent	SNP	G	G	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr11:58035171G>A	ENST00000395079.2	-	1	561	c.160C>T	c.(160-162)Ctg>Ttg	p.L54L		NM_207374.3	NP_997257.2	Q8NGF6	O10W1_HUMAN	olfactory receptor, family 10, subfamily W, member 1	54					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1)	26		Breast(21;0.0589)				AGGCTGCCCAGGAAATAGTAC	0.493000													17	46					0	0	0.00074312	0	0
HCN2	610	broad.mit.edu	37	19	590414	590414	+	Missense_Mutation	SNP	G	G	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr19:590414G>A	ENST00000251287.2	+	1	522	c.469G>A	c.(469-471)Ggc>Agc	p.G157S		NM_001194.3	NP_001185.3	Q9UL51	HCN2_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 2	157					cell-cell signaling|muscle contraction	voltage-gated potassium channel complex	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			endometrium(5)|lung(4)	9		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ggagccgcgcggcAGCCAGGC	0.776000													5	13					0	0	0.00116845	0	0
CLK3	1198	broad.mit.edu	37	15	74911677	74911677	+	Missense_Mutation	SNP	C	C	T			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr15:74911677C>T	ENST00000395066.3	+	2	1045	c.584C>T	c.(583-585)tCt>tTt	p.S195F	CLK3_ENST00000348245.3_Missense_Mutation_p.S47F|CLK3_ENST00000345005.4_Missense_Mutation_p.S47F|CLK3_ENST00000352989.5_Missense_Mutation_p.S47F	NM_001130028.1	NP_001123500.1	P49761	CLK3_HUMAN	CDC-like kinase 3	195	Arg-rich.					acrosomal vesicle|nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1)	15						CCACGAAGATCTCGGTCCAGA	0.577000													15	55					0	0	0.000422831	0	0
BEGAIN	57596	broad.mit.edu	37	14	101004532	101004532	+	Missense_Mutation	SNP	C	C	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr14:101004532C>A	ENST00000556751.1	-	5	4768	c.1364G>T	c.(1363-1365)gGg>gTg	p.G455V	BEGAIN_ENST00000443071.2_Missense_Mutation_p.G519V|BEGAIN_ENST00000355173.2_Missense_Mutation_p.G519V			Q9BUH8	BEGIN_HUMAN	brain-enriched guanylate kinase-associated	519						cytoplasm|membrane	protein binding			cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14		Melanoma(154;0.212)				GTCCCCGTCCCCCCCCTCGCT	0.731000													4	7					2.56e-06	1.08693e-05	0.00024832	1	0
NPSR1	387129	broad.mit.edu	37	7	34724261	34724261	+	Missense_Mutation	SNP	G	G	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr7:34724261G>A	ENST00000360581.1	+	2	373	c.245G>A	c.(244-246)aGa>aAa	p.R82K	NPSR1_ENST00000359791.1_Missense_Mutation_p.R82K|NPSR1-AS1_ENST00000419766.1_RNA|NPSR1_ENST00000381553.3_Missense_Mutation_p.R82K|NPSR1_ENST00000381539.3_Missense_Mutation_p.R82K|NPSR1_ENST00000531252.1_Missense_Mutation_p.R82K|NPSR1_ENST00000465305.1_Missense_Mutation_p.R82K|NPSR1_ENST00000381542.1_Missense_Mutation_p.R82K	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	82						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	AAGAAGTCAAGAATGACCTTC	0.433000													12	61					0	0	0.000978159	0	0
PVRL4	81607	broad.mit.edu	37	1	161043573	161043573	+	Silent	SNP	C	C	T			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr1:161043573C>T	ENST00000368012.3	-	7	1472	c.1170G>A	c.(1168-1170)ctG>ctA	p.L390L	PVRL4_ENST00000486694.1_5'UTR|PVRL4_ENST00000453926.2_Silent_p.L124L	NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4	390					adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			TGGTCAGGGTCAGCTCCTCCT	0.607000													6	50					0	0	0.00116845	0	0
ARAP2	116984	broad.mit.edu	37	4	36109304	36109304	+	Missense_Mutation	SNP	G	G	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr4:36109304G>A	ENST00000303965.4	-	27	4657	c.4168C>T	c.(4168-4170)Cac>Tac	p.H1390Y		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1390	Ras-associating.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TCCTTGTAGTGAAGAGGACGC	0.353000													38	71					0	0	0.00111076	0	0
SERAC1	84947	broad.mit.edu	37	6	158532443	158532443	+	Silent	SNP	A	A	T			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr6:158532443A>T	ENST00000367104.3	-	17	2051	c.1920T>A	c.(1918-1920)acT>acA	p.T640T	SERAC1_ENST00000367102.2_3'UTR	NM_032861.3	NP_116250.3	Q96JX3	SRAC1_HUMAN	serine active site containing 1	640					GPI anchor metabolic process|intracellular protein transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	binding|hydrolase activity, acting on ester bonds			endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		TGAATTGTAAAGTACGCTGGT	0.363000													6	47					0	0	0.00116845	0	0
PCLO	27445	broad.mit.edu	37	7	82585745	82585745	+	Silent	SNP	C	C	T			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr7:82585745C>T	ENST00000423517.2	-	5	4861	c.4524G>A	c.(4522-4524)gaG>gaA	p.E1508E	PCLO_ENST00000333891.8_Silent_p.E1508E	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1439					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AATCATAAGGCTCTCTTCTAG	0.378000													10	55					0	0	0.000673444	0	0
CDCA8	55143	broad.mit.edu	37	1	38158627	38158627	+	Missense_Mutation	SNP	G	G	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr1:38158627G>A	ENST00000373055.1	+	2	418	c.145G>A	c.(145-147)Gag>Aag	p.E49K	CDCA8_ENST00000327331.2_Missense_Mutation_p.E49K	NM_001256875.1|NM_018101.3	NP_001243804.1|NP_060571.1	Q53HL2	BOREA_HUMAN	cell division cycle associated 8	49	Required for centromere localization.|Required for interaction with INCENP and BIRC5.|Required for interaction with INCENP.|Required for interaction with SENP3.|Required to form a minimal CPC core complex that localizes to the central spindle and midbody and properly executes the role of the CPC during cytokinesis.				cell division|chromosome organization|mitotic metaphase|mitotic prometaphase	chromosome passenger complex|chromosome, centromeric region|cytosol|nucleolus|spindle	protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(1)|stomach(1)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CCTCCTCAAGGAGGTGGATAA	0.567000													17	46					0	0	0.000422831	0	0
CCDC158	339965	broad.mit.edu	37	4	77272262	77272262	+	Missense_Mutation	SNP	G	G	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr4:77272262G>A	ENST00000388914.3	-	17	2703	c.2551C>T	c.(2551-2553)Cct>Tct	p.P851S		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	851										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						GTGTATCCAGGGCCCTGAAGT	0.393000													51	101					0	0	0.000781405	0	0
IKBIP	121457	broad.mit.edu	37	12	99038328	99038328	+	Missense_Mutation	SNP	G	G	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr12:99038328G>A	ENST00000299157.4	-	1	525	c.152C>T	c.(151-153)tCg>tTg	p.S51L	IKBIP_ENST00000393042.3_Missense_Mutation_p.S51L|IKBIP_ENST00000342502.2_Missense_Mutation_p.S51L|IKBIP_ENST00000420861.1_5'UTR	NM_153687.3	NP_710154.1	Q70UQ0	IKIP_HUMAN	IKBKB interacting protein	51					induction of apoptosis|response to X-ray	endoplasmic reticulum membrane|integral to membrane	protein binding			NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						CGTCCCCAGCGACAGCAGGCT	0.751000													5	9					0	0	0.000602214	0	0
NEDD9	4739	broad.mit.edu	37	6	11213611	11213611	+	Missense_Mutation	SNP	G	G	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr6:11213611G>A	ENST00000379446.5	-	2	528	c.362C>T	c.(361-363)cCc>cTc	p.P121L	NEDD9_ENST00000379433.5_Missense_Mutation_p.P121L|NEDD9_ENST00000504387.1_Missense_Mutation_p.P121L|RP3-510L9.1_ENST00000500636.2_RNA	NM_001271033.1|NM_006403.3	NP_001257962.1|NP_006394.1	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally down-regulated 9	121	Interacts strongly with spindle- regulatory protein D1M1.				actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth	cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus	protein binding			endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			GTGGCCAGTGGGGACTTGGTA	0.542000													31	88					0	0	0.001512	0	0
GC	2638	broad.mit.edu	37	4	72620790	72620790	+	Missense_Mutation	SNP	G	G	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr4:72620790G>A	ENST00000273951.8	-	9	1412	c.1069C>T	c.(1069-1071)Ccg>Tcg	p.P357S	GC_ENST00000513476.1_Missense_Mutation_p.P357S|GC_ENST00000503472.1_5'UTR|GC_ENST00000504199.1_Missense_Mutation_p.P376S	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	group-specific component (vitamin D binding protein)	357	Albumin 2.				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Cholecalciferol(DB00169)	AATACTTCCGGAAGATGAGTC	0.343000													21	28					0	0	0.000586117	0	0
LRRTM4	80059	broad.mit.edu	37	2	77745764	77745764	+	Missense_Mutation	SNP	G	G	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr2:77745764G>A	ENST00000409088.3	-	3	1645	c.1231C>T	c.(1231-1233)Cct>Tct	p.P411S	LRRTM4_ENST00000409911.1_Missense_Mutation_p.P412S|LRRTM4_ENST00000409282.1_Missense_Mutation_p.P412S|LRRTM4_ENST00000409884.1_Missense_Mutation_p.P411S|LRRTM4_ENST00000409093.1_Missense_Mutation_p.P411S	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	411						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		TCTGCGCCAGGAATCTGAAAC	0.483000													16	50					0	0	0.00074312	0	0
PBXIP1	57326	broad.mit.edu	37	1	154919984	154919984	+	Missense_Mutation	SNP	T	T	C			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr1:154919984T>C	ENST00000368463.3	-	9	850	c.779A>G	c.(778-780)gAc>gGc	p.D260G	PBXIP1_ENST00000498553.1_5'UTR|PBXIP1_ENST00000539880.1_Missense_Mutation_p.D87G|PBXIP1_ENST00000368465.1_Missense_Mutation_p.D231G|PBXIP1_ENST00000542459.1_Missense_Mutation_p.D105G|PBXIP1_ENST00000368460.3_Missense_Mutation_p.D229G	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein 1	260					cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity			breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GGGGACACTGTCAGGAGGCAC	0.622000													18	84					0	0	0.00121646	0	0
ACSM1	116285	broad.mit.edu	37	16	20702464	20702464	+	Missense_Mutation	SNP	G	G	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr16:20702464G>A	ENST00000307493.4	-	1	114	c.47C>T	c.(46-48)tCc>tTc	p.S16F	ACSM1_ENST00000520010.1_Missense_Mutation_p.S16F|ACSM1_ENST00000219151.4_5'UTR	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	16					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						GTTGTGGAAGGATTTGTGGAT	0.522000													43	183					0	0	0.00285205	0	0
CWH43	80157	broad.mit.edu	37	4	49030703	49030703	+	Missense_Mutation	SNP	G	G	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr4:49030703G>A	ENST00000226432.4	+	10	1507	c.1324G>A	c.(1324-1326)Gaa>Aaa	p.E442K	CWH43_ENST00000513409.1_Missense_Mutation_p.E415K	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	442					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						ATATGACAATGAAGGGTGGTC	0.413000													18	42					0	0	0.00278032	0	0
OR2L8	391190	broad.mit.edu	37	1	248112603	248112603	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr1:248112603G>A	ENST00000357191.3	+	1	444	c.444G>A	c.(442-444)tgG>tgA	p.W148*	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			CAGGGTCTTGGATCATAGGCT	0.443000													12	241					0	0	0.000566183	0	0
ZSCAN1	284312	broad.mit.edu	37	19	58549328	58549328	+	Missense_Mutation	SNP	C	C	T			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr19:58549328C>T	ENST00000282326.1	+	3	371	c.124C>T	c.(124-126)Cgg>Tgg	p.R42W	ZSCAN1_ENST00000601162.1_Missense_Mutation_p.R42W|ZSCAN1_ENST00000391700.1_Missense_Mutation_p.R42W	NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	42	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		TCTGCGCTTCCGGCAGTTCCA	0.721000													4	21					0	0	0.00024832	0	0
CLECL1	160365	broad.mit.edu	37	12	9885648	9885648	+	Silent	SNP	G	G	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr12:9885648G>A	ENST00000327839.3	-	1	247	c.213C>T	c.(211-213)ttC>ttT	p.F71F		NM_172004.3	NP_742001.1	Q8IZS7	CLCL1_HUMAN	C-type lectin-like 1	71						integral to membrane|plasma membrane	sugar binding			breast(1)|kidney(1)|large_intestine(4)|lung(3)	9						AAAAGAGAGAGAAGACCACAA	0.428000													19	49					0	0	0.00152264	0	0
PCDHA7	56141	broad.mit.edu	37	5	140215517	140215517	+	Missense_Mutation	SNP	G	G	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr5:140215517G>A	ENST00000525929.1	+	1	1549	c.1549G>A	c.(1549-1551)Gtg>Atg	p.V517M	PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.V517M	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGCGGCAAGGTGTACGCGCT	0.687000													10	112					0	0	0.000673444	0	0
CYP2C8	1558	broad.mit.edu	37	10	96805591	96805591	+	Silent	SNP	G	G	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr10:96805591G>A	ENST00000371270.3	-	6	1031	c.937C>T	c.(937-939)Ctg>Ttg	p.L313L	CYP2C8_ENST00000535898.1_Silent_p.L211L|CYP2C8_ENST00000539050.1_Silent_p.L227L	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	313					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	TGCTTCAGCAGGAGCAGGAGT	0.453000													19	69					0	0	0.00047179	0	0
DCAF13	25879	broad.mit.edu	37	8	104427664	104427664	+	Missense_Mutation	SNP	G	G	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr8:104427664G>A	ENST00000297579.5	+	1	723	c.446G>A	c.(445-447)aGa>aAa	p.R149K	DCAF13_ENST00000521971.1_5'UTR|DCAF13_ENST00000521999.1_3'UTR|DCAF13_ENST00000521716.1_5'UTR|DCAF13_ENST00000519682.1_5'UTR	NM_015420.6	NP_056235.4	Q9NV06	DCA13_HUMAN	DDB1 and CUL4 associated factor 13	0					rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex		p.R149K(1)		NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						CCGGCCGGAAGAGCAACCGAG	0.562000													15	34					0	0	0.000308642	0	0
ACSM2B	348158	broad.mit.edu	37	16	20575996	20575996	+	Missense_Mutation	SNP	C	C	T			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr16:20575996C>T	ENST00000329697.6	-	2	340	c.172G>A	c.(172-174)Gag>Aag	p.E58K	ACSM2B_ENST00000567001.1_Missense_Mutation_p.E58K|ACSM2B_ENST00000565322.1_Intron|ACSM2B_ENST00000565232.1_Missense_Mutation_p.E58K|ACSM2B_ENST00000414188.2_Missense_Mutation_p.E58K	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	58					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						ATTACCTTCTCCATGTCAGCC	0.413000													7	25					0	0	0.000157383	0	0
C19orf66	55337	broad.mit.edu	37	19	10200710	10200710	+	Missense_Mutation	SNP	C	C	T			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr19:10200710C>T	ENST00000397881.3	+	5	695	c.218C>T	c.(217-219)cCc>cTc	p.P73L	CTD-2240E14.4_ENST00000589622.1_RNA|C19orf66_ENST00000253110.11_Missense_Mutation_p.P124L|C19orf66_ENST00000591813.1_Missense_Mutation_p.P124L			Q9NUL5	CS066_HUMAN	chromosome 19 open reading frame 66	124										large_intestine(3)|skin(1)	4						CGCCGCGTGCCCCAGCGGAAG	0.572000													4	6					0	0	0.00024832	0	0
ZNF121	7675	broad.mit.edu	37	19	9677580	9677580	+	Missense_Mutation	SNP	G	G	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr19:9677580G>A	ENST00000586602.1	-	6	625	c.209C>T	c.(208-210)gCc>gTc	p.A70V	ZNF121_ENST00000320451.6_Missense_Mutation_p.A70V			P58317	ZN121_HUMAN	zinc finger protein 121	70					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|kidney(4)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	24						CAGGCTGAAGGCTTTTCTGCA	0.448000													15	50					0	0	0.000422831	0	0
LRP1B	53353	broad.mit.edu	37	2	141643882	141643882	+	Silent	SNP	G	G	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr2:141643882G>A	ENST00000389484.3	-	24	4760	c.3789C>T	c.(3787-3789)atC>atT	p.I1263I		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1263					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GAATAGAAAAGATGATGAATG	0.303000										TSP Lung(27;0.18)			4	27					0	0	0.000602214	0	0
KRTAP5-2	440021	broad.mit.edu	37	11	1619166	1619166	+	Silent	SNP	C	C	T			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr11:1619166C>T	ENST00000412090.1	-	1	358	c.315G>A	c.(313-315)aaG>aaA	p.K105K	KRTAP5-AS1_ENST00000424148.1_RNA	NM_001004325.1	NP_001004325.1	Q701N4	KRA52_HUMAN	keratin associated protein 5-2	105	6 X 4 AA repeats of C-C-X-P.					keratin filament				large_intestine(1)|lung(2)|skin(1)	4		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CACAGCCCCCCTTGGAACCCC	0.652000													27	55					0	0	0.00106085	0	0
POM121	9883	broad.mit.edu	37	7	72398976	72398976	+	Missense_Mutation	SNP	A	A	G	rs147859349		TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr7:72398976A>G	ENST00000395270.1	+	7	1322	c.281A>G	c.(280-282)aAt>aGt	p.N94S	POM121_ENST00000434423.2_Missense_Mutation_p.N359S|POM121_ENST00000446813.1_Missense_Mutation_p.N94S|POM121_ENST00000358357.3_Missense_Mutation_p.N94S|POM121_ENST00000257622.4_Missense_Mutation_p.N94S	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	359	Pore side (Potential).|Required for targeting to the nucleus and nuclear pore complex.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				CTGGTGGCCAATGGAGTCCCC	0.468000													5	238					0	0	0.000602214	0	0
PEX1	5189	broad.mit.edu	37	7	92132403	92132403	+	Missense_Mutation	SNP	T	T	G			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr7:92132403T>G	ENST00000248633.4	-	13	2273	c.2178A>C	c.(2176-2178)caA>caC	p.Q726H	PEX1_ENST00000428214.1_Missense_Mutation_p.Q669H|PEX1_ENST00000438045.1_Missense_Mutation_p.Q404H|PEX1_ENST00000541751.1_Missense_Mutation_p.Q143H	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	726					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			TGTGAACTCCTTGAGCAGAAA	0.368000													14	30					0	0	0.00244969	0	0
LDLRAP1	26119	broad.mit.edu	37	1	25883675	25883675	+	Missense_Mutation	SNP	G	G	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr1:25883675G>A	ENST00000374338.4	+	4	495	c.376G>A	c.(376-378)Gac>Aac	p.D126N	LDLRAP1_ENST00000488127.1_3'UTR	NM_015627.2	NP_056442.2	Q5SW96	ARH_HUMAN	low density lipoprotein receptor adaptor protein 1	126	PID.				amyloid precursor protein metabolic process|cholesterol homeostasis|cholesterol metabolic process|positive regulation of receptor-mediated endocytosis|receptor internalization|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport|regulation of establishment of protein localization in plasma membrane|regulation of protein binding	basal plasma membrane|cytosol|early endosome|internal side of plasma membrane|neurofilament|recycling endosome	beta-amyloid binding|clathrin binding|low-density lipoprotein particle receptor binding|phosphatidylinositol-4,5-bisphosphate binding|phosphotyrosine binding|protein binding, bridging|protein complex binding|receptor signaling complex scaffold activity|signaling adaptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.63e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|GBM - Glioblastoma multiforme(114;0.00914)|READ - Rectum adenocarcinoma(331;0.0649)		CAAGATGCACGACAAGGTGTT	0.592000													20	49					0	0	0.00188189	0	0
TNR	7143	broad.mit.edu	37	1	175331865	175331865	+	Missense_Mutation	SNP	C	C	T			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr1:175331865C>T	ENST00000367674.1	-	14	3496	c.2788G>A	c.(2788-2790)Gaa>Aaa	p.E930K	TNR_ENST00000263525.2_Missense_Mutation_p.E930K	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	930	Fibronectin type-III 7.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.E930K(2)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					AGGCTGATTTCGTATTCGGTA	0.532000													25	94					0	0	0.00278032	0	0
CYP2C18	1562	broad.mit.edu	37	10	96454741	96454741	+	Silent	SNP	C	C	T			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr10:96454741C>T	ENST00000285979.6	+	4	748	c.549C>T	c.(547-549)ttC>ttT	p.F183F	CYP2C19_ENST00000464755.1_3'UTR|CYP2C18_ENST00000339022.5_Silent_p.F183F	NM_000772.2	NP_000763.1			cytochrome P450, family 2, subfamily C, polypeptide 18											NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)		CTGTTATTTTCCATGATCGAT	0.393000													14	38					0	0	0.000422831	0	0
POU2F1	5451	broad.mit.edu	37	1	167339406	167339406	+	Silent	SNP	C	C	T	rs34899926	byFrequency	TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr1:167339406C>T	ENST00000367862.5	+	4	439	c.204C>T	c.(202-204)ctC>ctT	p.L68L	POU2F1_ENST00000541643.3_Silent_p.L56L|POU2F1_ENST00000452019.1_Silent_p.L56L|POU2F1_ENST00000420254.3_Silent_p.L56L|POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000367866.2_Silent_p.L79L|POU2F1_ENST00000429375.2_Silent_p.L79L	NM_001198783.1	NP_001185712.1	P14859	PO2F1_HUMAN	POU class 2 homeobox 1	56					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						AGGTCCAACTCGCTGGAACAA	0.378000													18	46					0	0	0.00152264	0	0
TTN	7273	broad.mit.edu	37	2	179610473	179610473	+	Nonsense_Mutation	SNP	T	T	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr2:179610473T>A	ENST00000360870.5	-	46	16876	c.16654A>T	c.(16654-16656)Aaa>Taa	p.K5552*	TTN_ENST00000342992.6_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	9022	Ig-like 36.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGACTAATTTTCCATCTTTG	0.418000													15	70					0	0	0.000308642	0	0
TICRR	90381	broad.mit.edu	37	15	90137712	90137712	+	Silent	SNP	C	C	T			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr15:90137712C>T	ENST00000268138.7	+	6	1713	c.1608C>T	c.(1606-1608)tgC>tgT	p.C536C	TICRR_ENST00000560985.1_Silent_p.C535C					TOPBP1-interacting checkpoint and replication regulator																		TAATACATTGCCTTGCCGAGC	0.403000													12	55					0	0	0.000978159	0	0
FRG1B	284802	broad.mit.edu	37	20	29625892	29625892	+	Missense_Mutation	SNP	T	T	C			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr20:29625892T>C	ENST00000278882.3	+	5	516	c.136T>C	c.(136-138)Tat>Cat	p.Y46H	FRG1B_ENST00000358464.4_Missense_Mutation_p.Y46H|FRG1B_ENST00000439954.2_Missense_Mutation_p.Y51H																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GAAATCTGGCTATGGAAAATA	0.348000													6	73					0	0	0.00116845	0	0
CDH5	1003	broad.mit.edu	37	16	66424357	66424357	+	Missense_Mutation	SNP	G	G	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr16:66424357G>A	ENST00000341529.3	+	6	981	c.833G>A	c.(832-834)gGc>gAc	p.G278D	CDH5_ENST00000563425.2_Missense_Mutation_p.G278D	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	278	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		ACCTCTGTGGGCTCTCTGTTT	0.532000													9	42					0	0	0.000673444	0	0
CPSF4	10898	broad.mit.edu	37	7	99042437	99042437	+	Silent	SNP	C	C	T			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr7:99042437C>T	ENST00000436336.2	+	2	290	c.129C>T	c.(127-129)ttC>ttT	p.F43F	CPSF4_ENST00000441580.1_5'UTR|ATP5J2-PTCD1_ENST00000413834.1_Intron|CPSF4_ENST00000451876.1_Silent_p.F43F|PTCD1_ENST00000555673.1_Intron|CPSF4_ENST00000471455.1_3'UTR|CPSF4_ENST00000292476.5_Silent_p.F43F	NM_001081559.1|NM_006693.2	NP_001075028.1|NP_006684.1	O95639	CPSF4_HUMAN	cleavage and polyadenylation specific factor 4, 30kDa	43					modification by virus of host mRNA processing|mRNA processing|viral infectious cycle	mRNA cleavage and polyadenylation specificity factor complex	RNA binding|zinc ion binding	p.F43L(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(5)	14	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					TCTGTGAATTCTTTTTGAAAG	0.542000													43	231					0	0	0.000781405	0	0
HDC	3067	broad.mit.edu	37	15	50534764	50534764	+	Missense_Mutation	SNP	G	G	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr15:50534764G>A	ENST00000267845.3	-	12	2084	c.1682C>T	c.(1681-1683)aCc>aTc	p.T561I	HDC_ENST00000543581.1_Missense_Mutation_p.T528I	NM_002112.3	NP_002103.2	P19113	DCHS_HUMAN	histidine decarboxylase	561					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	CTTGTGCTTGGTGGCATCTGG	0.537000													17	94					0	0	0.000422831	0	0
SLC29A2	3177	broad.mit.edu	37	11	66136997	66136997	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr11:66136997G>A	ENST00000357440.2	-	3	346	c.118C>T	c.(118-120)Cag>Tag	p.Q40*	SLC29A2_ENST00000311161.7_Nonsense_Mutation_p.Q40*|SLC29A2_ENST00000546034.1_Nonsense_Mutation_p.Q40*|SLC29A2_ENST00000544554.1_Nonsense_Mutation_p.Q40*	NM_001532.2	NP_001523.2	Q14542	S29A2_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 2	40					cell proliferation|nucleobase, nucleoside and nucleotide metabolic process	basolateral plasma membrane|integral to plasma membrane|nuclear membrane|nucleolus	nucleoside transmembrane transporter activity			breast(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10						AGTCGCGCCTGGAAGTACTGC	0.617000													31	101					0	0	0.00058488	0	0
MED23	9439	broad.mit.edu	37	6	131927636	131927636	+	Silent	SNP	G	G	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr6:131927636G>A	ENST00000403834.3	-	13	1541	c.1368C>T	c.(1366-1368)tcC>tcT	p.S456S	MED23_ENST00000368058.1_Silent_p.S456S|MED23_ENST00000368068.3_Silent_p.S450S|MED23_ENST00000540546.1_Silent_p.S456S|MED23_ENST00000539158.1_Silent_p.S450S|MED23_ENST00000368053.4_Silent_p.S456S|MED23_ENST00000368060.3_Silent_p.S450S|MED23_ENST00000545957.1_Silent_p.S91S|MED23_ENST00000354577.4_Silent_p.S456S			Q9ULK4	MED23_HUMAN	mediator complex subunit 23	450					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		GAAGTCTTAGGGAATGAGGTA	0.368000													8	38					0	0	0.000442599	0	0
MET	4233	broad.mit.edu	37	7	116380061	116380061	+	Missense_Mutation	SNP	C	C	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr7:116380061C>A	ENST00000397752.3	+	4	1650	c.1450C>A	c.(1450-1452)Cat>Aat	p.H484N	MET_ENST00000495962.1_3'UTR|MET_ENST00000318493.6_Missense_Mutation_p.H484N|MET_ENST00000436117.2_Missense_Mutation_p.H484N	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	484	Sema.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			CCTGGACTCCCATCCAGTGTC	0.433000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				7	144					0.00198382	0.00828408	0.00198382	1	0
NAALADL2	254827	broad.mit.edu	37	3	174974201	174974201	+	Splice_Site	SNP	C	C	T			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr3:174974201C>T	ENST00000454872.1	+	4	949	c.819_splice	c.e4-1	p.A274_splice	NAALADL2_ENST00000473253.1_3'UTR|NAALADL2-AS2_ENST00000424690.1_RNA	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	274					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		CTCTTTCAGGCTGAAGTCATC	0.313000													23	44					0	0	0.00278032	0	0
EXTL3	2137	broad.mit.edu	37	8	28574362	28574362	+	Silent	SNP	C	C	T			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr8:28574362C>T	ENST00000220562.4	+	3	1688	c.786C>T	c.(784-786)tcC>tcT	p.S262S	EXTL3_ENST00000523149.1_Intron|EXTL3_ENST00000519886.1_Intron	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	262						integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		AGTTGTATTCCCTGCCACACT	0.527000													6	53					0	0	0.00116845	0	0
RERE	473	broad.mit.edu	37	1	8418587	8418587	+	Silent	SNP	G	G	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr1:8418587G>A	ENST00000337907.3	-	21	4642	c.4008C>T	c.(4006-4008)ccC>ccT	p.P1336P	RERE_ENST00000377464.1_Silent_p.P1068P|RERE_ENST00000476556.1_Silent_p.P782P|RERE_ENST00000400908.2_Silent_p.P1336P|RERE_ENST00000400907.2_Intron	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	1336					multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		CTGGGTGCAGGGGGTCCAGCT	0.697000													4	16					0	0	0.000602214	0	0
CARD8	22900	broad.mit.edu	37	19	48715042	48715042	+	Silent	SNP	G	G	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr19:48715042G>A	ENST00000391898.3	-	11	1581	c.1539C>T	c.(1537-1539)gcC>gcT	p.A513A	CARD8_ENST00000521613.1_Silent_p.A463A|CARD8_ENST00000520753.1_3'UTR|CARD8_ENST00000519940.1_Silent_p.A513A|CARD8_ENST00000520015.1_3'UTR|ZNF114_ENST00000597695.1_Intron|CTC-453G23.8_ENST00000595201.1_RNA|CARD8_ENST00000447740.2_Silent_p.A463A|CARD8_ENST00000357778.5_Intron|CARD8_ENST00000359009.4_Silent_p.A407A|CARD8_ENST00000520153.1_Silent_p.A463A	NM_001184900.1	NP_001171829.1	Q9Y2G2	CARD8_HUMAN	caspase recruitment domain family, member 8	407					negative regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion	cytoplasm|nucleus	caspase activator activity|NACHT domain binding|protein homodimerization activity			endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	15		all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184)		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)		GCACGTCCAGGGCCAGGTCCC	0.488000													35	180					0	0	0.00111076	0	0
LRBA	987	broad.mit.edu	37	4	151773905	151773905	+	Missense_Mutation	SNP	G	G	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr4:151773905G>A	ENST00000535741.1	-	23	3430	c.2957C>T	c.(2956-2958)aCc>aTc	p.T986I	LRBA_ENST00000357115.3_Missense_Mutation_p.T986I|LRBA_ENST00000507224.1_Missense_Mutation_p.T986I|LRBA_ENST00000510413.1_Missense_Mutation_p.T986I			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	986						endoplasmic reticulum|Golgi apparatus|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)					ACCATTTGTGGTGAAATGAGG	0.373000													23	38					0	0	0.00229938	0	0
DNAH5	1767	broad.mit.edu	37	5	13719075	13719075	+	Missense_Mutation	SNP	G	G	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr5:13719075G>A	ENST00000265104.4	-	72	12519	c.12415C>T	c.(12415-12417)Ccc>Tcc	p.P4139S		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4139	AAA 6 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.P4139S(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AGTGTAATGGGAAACTGCTTA	0.453000									Kartagener syndrome				30	78					0	0	0.00178596	0	0
ABCB1	5243	broad.mit.edu	37	7	87178664	87178664	+	Splice_Site	SNP	C	C	T			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr7:87178664C>T	ENST00000265724.3	-	15	2142	c.1725_splice	c.e15+1	p.K575_splice	ABCB1_ENST00000543898.1_Splice_Site_p.K511_splice	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	575	ABC transporter 1.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|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)	CCTCACTGACCTTATCCAGAG	0.448000													13	28					0	0	0.00136819	0	0
RNF169	254225	broad.mit.edu	37	11	74545777	74545777	+	Missense_Mutation	SNP	G	G	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr11:74545777G>A	ENST00000299563.4	+	5	912	c.899G>A	c.(898-900)aGa>aAa	p.R300K		NM_001098638.1	NP_001092108.1	Q8NCN4	RN169_HUMAN	ring finger protein 169	300							zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	15						GCCCAGGAAAGAGCGAAGAGC	0.493000													15	30					0	0	0.000566183	0	0
LCK	3932	broad.mit.edu	37	1	32742228	32742228	+	Missense_Mutation	SNP	A	A	G			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr1:32742228A>G	ENST00000333070.4	+	9	905	c.805A>G	c.(805-807)Aag>Gag	p.K269E	LCK_ENST00000373564.3_Missense_Mutation_p.K276E|LCK_ENST00000336890.5_Missense_Mutation_p.K269E	NM_001042771.1	NP_001036236.1	P06239	LCK_HUMAN	lymphocyte-specific protein tyrosine kinase	269	Protein kinase.				activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|T cell costimulation|T cell differentiation|T cell receptor signaling pathway|viral reproduction	cytosol|Golgi apparatus|membrane raft|pericentriolar material|plasma membrane	ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity|SH2 domain binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)	CGGGCACACGAAGGTGGCGGT	0.647000			T	TRB@	T-ALL								4	84					0	0	0.00116845	0	0
RNF213	57674	broad.mit.edu	37	17	78316946	78316946	+	Missense_Mutation	SNP	G	G	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr17:78316946G>A	ENST00000582970.1	+	27	6147	c.6004G>A	c.(6004-6006)Gtg>Atg	p.V2002M	RNF213_ENST00000508628.2_Missense_Mutation_p.V2051M|RNF213_ENST00000336301.6_Missense_Mutation_p.V75M	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GTCTCTGTACGTGAAGAGGTT	0.483000													10	17					0	0	0.000978159	0	0
MYH2	4620	broad.mit.edu	37	17	10432012	10432012	+	Missense_Mutation	SNP	C	C	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr17:10432012C>A	ENST00000245503.5	-	27	4123	c.3739G>T	c.(3739-3741)Gcc>Tcc	p.A1247S	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.A1247S|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Intron	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1247					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						AGTACCTTGGCTTTGGAGACC	0.398000													24	98					2.44723e-14	1.05079e-13	0.000720815	1	0
ECE2	9718	broad.mit.edu	37	3	184009215	184009215	+	Silent	SNP	G	G	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr3:184009215G>A	ENST00000402825.3	+	18	2463	c.2463G>A	c.(2461-2463)gtG>gtA	p.V821V	ECE2_ENST00000404464.3_Silent_p.V703V|ECE2_ENST00000359140.4_Silent_p.V674V|ECE2_ENST00000357474.5_Silent_p.V749V|EIF2B5_ENST00000444495.1_Intron	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	821	Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TCTTCTTCGTGGGATTTGCCC	0.582000													18	38					0	0	0.00074312	0	0
SSPO	23145	broad.mit.edu	37	7	149509388	149509388	+	RNA	SNP	C	C	T			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr7:149509388C>T	ENST00000378016.2	+	0	9786							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGCCCTGGTCCCACTGTAGCC	0.716000													6	19					0	0	0.000274275	0	0
GRM3	2913	broad.mit.edu	37	7	86416374	86416374	+	Missense_Mutation	SNP	G	G	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr7:86416374G>A	ENST00000361669.2	+	3	2365	c.1266G>A	c.(1264-1266)atG>atA	p.M422I	GRM3_ENST00000546348.1_Intron|GRM3_ENST00000439827.1_Missense_Mutation_p.M422I|GRM3_ENST00000536043.1_Missense_Mutation_p.M294I|GRM3_ENST00000394720.2_Missense_Mutation_p.M420I	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	422					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	GTGATGCTATGAAGATCCTGG	0.463000													58	131					0	0	0.000781405	0	0
DNM3	26052	broad.mit.edu	37	1	172356371	172356371	+	Silent	SNP	G	G	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr1:172356371G>A	ENST00000358155.4	+	19	2333	c.2157G>A	c.(2155-2157)cgG>cgA	p.R719R	DNM3_ENST00000355305.5_Silent_p.R725R|DNM3_ENST00000367731.1_Silent_p.R715R	NM_015569.3	NP_056384.2	Q9UQ16	DYN3_HUMAN	dynamin 3	725	GED.				endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CTCAGCGCCGGGATGAGATGC	0.512000													24	71					0	0	0.00106085	0	0
GRIP2	80852	broad.mit.edu	37	3	14549195	14549195	+	RNA	SNP	G	G	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr3:14549195G>A	ENST00000273083.3	-	0	2156							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						TCCCCCACGTGGATGGCACCA	0.627000													6	36					0	0	0.00198382	0	0
CPNE3	8895	broad.mit.edu	37	8	87560537	87560537	+	Silent	SNP	G	G	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr8:87560537G>A	ENST00000521271.1	+	12	1050	c.888G>A	c.(886-888)gtG>gtA	p.V296V	CPNE3_ENST00000198765.4_Silent_p.V296V	NM_003909.3	NP_003900.1	O75131	CPNE3_HUMAN	copine III	296	VWFA.				lipid metabolic process|vesicle-mediated transport	cytosol	calcium-dependent phospholipid binding|protein serine/threonine kinase activity|transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	23						AGGTGGGAGTGGACTTCACTG	0.493000													9	41					0	0	0.000978159	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882578	228882578	+	Missense_Mutation	SNP	G	G	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr2:228882578G>A	ENST00000392056.3	-	7	3038	c.2992C>T	c.(2992-2994)Ccc>Tcc	p.P998S	SPHKAP_ENST00000344657.5_Missense_Mutation_p.P998S	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	998						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CTGAGCCGGGGAGGCTTGTGT	0.532000													13	54					0	0	0.000308642	0	0
PTEN	5728	broad.mit.edu	37	10	89653815	89653815	+	Missense_Mutation	SNP	C	C	T			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr10:89653815C>T	ENST00000371953.3	+	2	1470	c.113C>T	c.(112-114)cCt>cTt	p.P38L		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	38	Phosphatase tensin-type.				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 cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|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|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain 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.?(8)|p.Y27fs*1(2)|p.P38R(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)		ATGGGATTTCCTGCAGAAAGA	0.289000		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)			11	26					0	0	0.00185496	0	0
GPHB5	122876	broad.mit.edu	37	14	63784382	63784382	+	RNA	SNP	C	C	T			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr14:63784382C>T	ENST00000539258.1	-	0	238							Q86YW7	GPHB5_HUMAN	glycoprotein hormone beta 5							extracellular region	hormone activity	p.W60C(1)		breast(1)|endometrium(1)|lung(4)|urinary_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(108;0.00372)|all cancers(60;0.0226)|BRCA - Breast invasive adenocarcinoma(234;0.0978)		CACAGCGACCCCAGCAGGCAT	0.552000													5	33					0	0	0.00116845	0	0
MUC16	94025	broad.mit.edu	37	19	9059447	9059447	+	Silent	SNP	G	G	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr19:9059447G>A	ENST00000397910.4	-	3	28202	c.27999C>T	c.(27997-27999)atC>atT	p.I9333I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9335	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						CAGGGCCTGGGATGGATGTTC	0.498000													31	113					0	0	0.0024448	0	0
PTPRT	11122	broad.mit.edu	37	20	41306677	41306677	+	Missense_Mutation	SNP	G	G	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr20:41306677G>A	ENST00000373198.3	-	7	1217	c.982C>T	c.(982-984)Cgc>Tgc	p.R328C	PTPRT_ENST00000356100.2_Missense_Mutation_p.R328C|PTPRT_ENST00000373201.1_Missense_Mutation_p.R328C|PTPRT_ENST00000373193.3_Missense_Mutation_p.R328C|PTPRT_ENST00000373187.1_Missense_Mutation_p.R328C|PTPRT_ENST00000373184.1_Missense_Mutation_p.R328C|PTPRT_ENST00000373190.1_Missense_Mutation_p.R328C	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	328	Fibronectin type-III 1.				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	p.R328C(1)		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)				GTGGTGGTGCGATATTCCACT	0.562000													48	64					0	0	0.000781405	0	0
COL22A1	169044	broad.mit.edu	37	8	139601588	139601588	+	Missense_Mutation	SNP	C	C	T			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr8:139601588C>T	ENST00000303045.6	-	65	5235	c.4789G>A	c.(4789-4791)Gga>Aga	p.G1597R	COL22A1_ENST00000435777.1_Missense_Mutation_p.G1577R|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1597	Collagen-like 16.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CCGGGAGGTCCTGGGAGGCCA	0.627000										HNSCC(7;0.00092)			6	36					0	0	0.000157383	0	0
SLC22A1	6580	broad.mit.edu	37	6	160564612	160564612	+	Missense_Mutation	SNP	G	G	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr6:160564612G>A	ENST00000366963.4	+	8	1463	c.1316G>A	c.(1315-1317)cGa>cAa	p.R439Q	SLC22A1_ENST00000324965.4_Missense_Mutation_p.R439Q|SLC22A1_ENST00000457470.2_Missense_Mutation_p.R439Q	NM_003057.2|NM_153187.1	NP_003048.1|NP_694857.1	O15245	S22A1_HUMAN	solute carrier family 22 (organic cation transporter), member 1	439						basolateral plasma membrane|integral to plasma membrane|membrane fraction	organic cation transmembrane transporter activity|protein binding		SLC22A1/CUTA(2)	breast(1)|endometrium(3)|large_intestine(3)|lung(13)|upper_aerodigestive_tract(1)	21		Breast(66;0.000776)|Ovarian(120;0.00556)		OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		TGTGTTGGCCGAATGGGAATC	0.498000													12	36					0	0	0.00136819	0	0
IREB2	3658	broad.mit.edu	37	15	78782786	78782786	+	Missense_Mutation	SNP	C	C	T			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr15:78782786C>T	ENST00000258886.8	+	17	2248	c.2099C>T	c.(2098-2100)tCc>tTc	p.S700F		NM_004136.2	NP_004127.1	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	700							4 iron, 4 sulfur cluster binding|metal ion binding|protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		CGGTGGAATTCCTTAGAAGCA	0.363000													13	47					0	0	0.00244969	0	0
KRTAP10-4	386672	broad.mit.edu	37	21	45993886	45993886	+	Missense_Mutation	SNP	C	C	T			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr21:45993886C>T	ENST00000400374.3	+	1	281	c.251C>T	c.(250-252)tCc>tTc	p.S84F	TSPEAR_ENST00000323084.4_Intron	NM_198687.1	NP_941960.1	P60372	KR104_HUMAN	keratin associated protein 10-4	84	36 X 5 AA repeats of C-C-X(3).					keratin filament				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						TGCACCAGCTCCTGCACGCCC	0.687000													9	40					0	0	0.00136819	0	0
DGKD	8527	broad.mit.edu	37	2	234343527	234343527	+	Missense_Mutation	SNP	C	C	T			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr2:234343527C>T	ENST00000264057.2	+	5	578	c.566C>T	c.(565-567)tCg>tTg	p.S189L	DGKD_ENST00000409813.3_Missense_Mutation_p.S145L	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	189					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	GGGGTCACGTCGCACGGGCTG	0.552000													11	109					0	0	0.000422831	0	0
DRD1	1812	broad.mit.edu	37	5	174868977	174868977	+	Missense_Mutation	SNP	C	C	T			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr5:174868977C>T	ENST00000393752.2	-	2	2118	c.1126G>A	c.(1126-1128)Gag>Aag	p.E376K		NM_000794.3	NP_000785.1	P21728	DRD1_HUMAN	dopamine receptor D1	376					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)	CCTCGTGGCTCATGATGGCTG	0.522000													29	93					0	0	0.001512	0	0
ACSM2B	348158	broad.mit.edu	37	16	20575994	20575994	+	Silent	SNP	C	C	T			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr16:20575994C>T	ENST00000329697.6	-	2	342	c.174G>A	c.(172-174)gaG>gaA	p.E58E	ACSM2B_ENST00000567001.1_Silent_p.E58E|ACSM2B_ENST00000565322.1_Intron|ACSM2B_ENST00000565232.1_Silent_p.E58E|ACSM2B_ENST00000414188.2_Silent_p.E58E	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	58					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						CCATTACCTTCTCCATGTCAG	0.408000													7	24					0	0	0.000157383	0	0
BEND2	139105	broad.mit.edu	37	X	18221737	18221737	+	Missense_Mutation	SNP	C	C	T			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chrX:18221737C>T	ENST00000380033.4	-	5	923	c.791G>A	c.(790-792)cGa>cAa	p.R264Q	BEND2_ENST00000380030.3_Missense_Mutation_p.R264Q	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	264										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						GGATTCTCTTCGTGACAGAAC	0.463000													19	57					0	0	0.00074312	0	0
PPP1R13B	23368	broad.mit.edu	37	14	104263804	104263804	+	Missense_Mutation	SNP	G	G	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr14:104263804G>A	ENST00000202556.9	-	2	343	c.61C>T	c.(61-63)Cct>Tct	p.P21S		NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	21					apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding			endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				GGTGTTATAGGAACTTCTGTT	0.378000													4	39					0	0	0.00024832	0	0
TTN	7273	broad.mit.edu	37	2	179604270	179604270	+	Missense_Mutation	SNP	C	C	T			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr2:179604270C>T	ENST00000589042.1	-	48	13914	c.13690G>A	c.(13690-13692)Gaa>Aaa	p.E4564K	TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.E4247K|TTN_ENST00000359218.5_Missense_Mutation_p.E4326K|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E4201K|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E4393K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4247	Ig-like 25.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTTGTTTTTCGTCAGAGACA	0.428000													6	54					0	0	0.00198382	0	0
GRIK4	2900	broad.mit.edu	37	11	120707551	120707551	+	Silent	SNP	C	C	T			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr11:120707551C>T	ENST00000527524.2	+	8	1029	c.742C>T	c.(742-744)Ctg>Ttg	p.L248L	GRIK4_ENST00000438375.2_Silent_p.L248L			Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	248					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	CTTCACTAATCTGGTAAGATG	0.453000													22	58					0	0	0.00229938	0	0
OR2A2	442361	broad.mit.edu	37	7	143807135	143807135	+	Silent	SNP	C	C	T			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr7:143807135C>T	ENST00000408979.2	+	1	529	c.460C>T	c.(460-462)Ctg>Ttg	p.L154L		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					TGGGTTTGCCCTGTCCCTGGT	0.532000													33	71					0	0	0.00283554	0	0
PTGES3L-AARSD1	100885850	broad.mit.edu	37	17	41108528	41108528	+	Missense_Mutation	SNP	T	T	C			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr17:41108528T>C	ENST00000421990.2	-	10	1306	c.961A>G	c.(961-963)Act>Gct	p.T321A	AARSD1_ENST00000427569.2_Missense_Mutation_p.T147A|AARSD1_ENST00000416949.1_Intron|PTGES3L-AARSD1_ENST00000409399.1_Missense_Mutation_p.T321A|PTGES3L-AARSD1_ENST00000409103.1_Missense_Mutation_p.T230A|PTGES3L-AARSD1_ENST00000360221.4_Missense_Mutation_p.T260A	NM_001136042.2	NP_001129514.2																					TGCTCTGCAGTCATAGAGGGG	0.483000													5	39					0	0	0.00116845	0	0
C14orf39	317761	broad.mit.edu	37	14	60921814	60921814	+	Missense_Mutation	SNP	G	G	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr14:60921814G>A	ENST00000321731.3	-	16	1567	c.1408C>T	c.(1408-1410)Cct>Tct	p.P470S		NM_174978.2	NP_777638.2	Q08AQ4	Q08AQ4_HUMAN	chromosome 14 open reading frame 39	470										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		GAAAGTCCAGGGGATTCCTTT	0.294000													21	72					0	0	0.00121646	0	0
PADI1	29943	broad.mit.edu	37	1	17548845	17548845	+	Silent	SNP	C	C	T			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr1:17548845C>T	ENST00000375471.4	+	2	245	c.153C>T	c.(151-153)ttC>ttT	p.F51F		NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	51					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	TGGAGGTCTTCATGGTCTACA	0.567000													31	97					0	0	0.00178596	0	0
MYLK4	340156	broad.mit.edu	37	6	2685552	2685552	+	Missense_Mutation	SNP	C	C	T			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr6:2685552C>T	ENST00000274643.7	-	6	865	c.523G>A	c.(523-525)Gac>Aac	p.D175N	MYLK4_ENST00000268446.5_Missense_Mutation_p.D175N	NM_001012418.3	NP_001012418.2	Q86YV6	MYLK4_HUMAN	myosin light chain kinase family, member 4	175	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23	Ovarian(93;0.0412)	all_hematologic(90;0.0897)				AGGACAATGTCGTTCTTAGAC	0.577000													28	103					0	0	0.00283554	0	0
COL23A1	91522	broad.mit.edu	37	5	177674798	177674798	+	Missense_Mutation	SNP	G	G	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr5:177674798G>A	ENST00000390654.3	-	21	1604	c.1247C>T	c.(1246-1248)cCc>cTc	p.P416L		NM_173465.3	NP_775736.2	Q86Y22	CONA1_HUMAN	collagen, type XXIII, alpha 1	416	Collagen-like 4.|Gly-rich.					collagen|integral to membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)		GGGGCCAGGGGGGCCAGGGGG	0.647000													13	19					0	0	0.000566183	0	0
FAT2	2196	broad.mit.edu	37	5	150885593	150885593	+	Missense_Mutation	SNP	G	G	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr5:150885593G>A	ENST00000261800.5	-	23	12595	c.12583C>T	c.(12583-12585)Cac>Tac	p.H4195Y		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	4195					epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACTTCGGAGTGGGGGTATTCC	0.602000													40	121					0	0	0.00195071	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				32	51					0	0	0.00283554	0	0
MIR518D	574489	broad.mit.edu	37	19	54238155	54238155	+	RNA	SNP	G	G	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr19:54238155G>A	ENST00000385014.1	+	0	25					NR_030211.1																						CCTCTAGAGGGAAGCACTTTC	0.418000													12	57					0	0	0.00185496	0	0
COPB2	9276	broad.mit.edu	37	3	139087108	139087108	+	Missense_Mutation	SNP	T	T	C			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr3:139087108T>C	ENST00000333188.5	-	13	1605	c.1424A>G	c.(1423-1425)gAg>gGg	p.E475G	COPB2_ENST00000507777.1_Missense_Mutation_p.E446G	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	475					COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						ACAGACTAGCTCTCCAGAGTC	0.383000													15	28					0	0	0.000422831	0	0
NDST3	9348	broad.mit.edu	37	4	118975649	118975649	+	Missense_Mutation	SNP	T	T	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr4:118975649T>A	ENST00000296499.5	+	2	987	c.584T>A	c.(583-585)aTt>aAt	p.I195N	NDST3_ENST00000433996.2_Missense_Mutation_p.I195N	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	195	Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						GATTGTTGTATTAATCCTCAT	0.353000													37	67					0	0	0.00195071	0	0
OR13H1	347468	broad.mit.edu	37	X	130678175	130678175	+	Missense_Mutation	SNP	G	G	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chrX:130678175G>A	ENST00000338616.3	+	1	226	c.128G>A	c.(127-129)gGa>gAa	p.G43E		NM_001004486.1	NP_001004486.1	Q8NG92	O13H1_HUMAN	olfactory receptor, family 13, subfamily H, member 1	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15	Acute lymphoblastic leukemia(192;0.000636)					TTGGGGAATGGATTTATGATC	0.383000													38	77					0	0	0.00111076	0	0
STAG1	10274	broad.mit.edu	37	3	136342005	136342005	+	Missense_Mutation	SNP	G	G	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr3:136342005G>A	ENST00000383202.2	-	3	371	c.115C>T	c.(115-117)Cgt>Tgt	p.R39C	STAG1_ENST00000480733.1_Missense_Mutation_p.R39C|STAG1_ENST00000236698.5_Missense_Mutation_p.R39C|STAG1_ENST00000434713.2_5'UTR	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	39					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						CGGCCAGGACGACCCCTTTTT	0.403000													44	134					0	0	0.000781405	0	0
OR2L3	391192	broad.mit.edu	37	1	248224427	248224427	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr1:248224427G>A	ENST00000359959.3	+	1	444	c.444G>A	c.(442-444)tgG>tgA	p.W148*	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.W148*(1)		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)			CAGGGTCTTGGATCATAGGCT	0.433000													19	84					0	0	0.000958276	0	0
SUPT5H	6829	broad.mit.edu	37	19	39963882	39963882	+	Silent	SNP	G	G	C			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr19:39963882G>C	ENST00000599117.1	+	25	2665	c.2298G>C	c.(2296-2298)ggG>ggC	p.G766G	SUPT5H_ENST00000432763.2_Silent_p.G766G|SUPT5H_ENST00000359191.6_Silent_p.G762G|SUPT5H_ENST00000598725.1_Silent_p.G766G|SUPT5H_ENST00000402194.2_Silent_p.G762G			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	766	9 X 7 AA approximate tandem repeats of G- S-[QR]-T-P-X-[YQ], motif CTR1.				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CGACCTATGGGAGGACGCCCA	0.652000													17	34					0	0	0.00074312	0	0
PELP1	27043	broad.mit.edu	37	17	4577851	4577851	+	Missense_Mutation	SNP	T	T	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr17:4577851T>A	ENST00000301396.4	-	13	2193	c.1968A>T	c.(1966-1968)aaA>aaT	p.K656N	PELP1_ENST00000574876.1_Missense_Mutation_p.K512N|PELP1_ENST00000572293.1_Missense_Mutation_p.K562N|PELP1_ENST00000436683.2_Missense_Mutation_p.K365N|PELP1_ENST00000269230.7_Intron			Q8IZL8	PELP1_HUMAN	proline, glutamate and leucine rich protein 1	512	Pro-rich.				transcription, DNA-dependent	cytoplasm|MLL1 complex	protein binding			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						TGCTATCCCCTTTCCGGTGGC	0.627000													12	35					0	0	0.000308642	0	0
HTR3A	3359	broad.mit.edu	37	11	113848577	113848577	+	Missense_Mutation	SNP	C	C	T			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr11:113848577C>T	ENST00000504030.2	+	2	597	c.152C>T	c.(151-153)cCc>cTc	p.P51L	HTR3A_ENST00000535865.1_5'UTR|HTR3A_ENST00000506841.2_Missense_Mutation_p.P51L|HTR3A_ENST00000355556.2_Missense_Mutation_p.P57L|HTR3A_ENST00000299961.5_Missense_Mutation_p.P36L|HTR3A_ENST00000375498.2_Missense_Mutation_p.P57L			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	51					digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	GGTGTGCGCCCCGTGAGGGAC	0.592000													16	50					0	0	0.00074312	0	0
AGBL1	123624	broad.mit.edu	37	15	86940643	86940643	+	Silent	SNP	G	G	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr15:86940643G>A	ENST00000441037.2	+	17	2378	c.2283G>A	c.(2281-2283)gaG>gaA	p.E761E	AGBL1_ENST00000421325.2_Silent_p.E761E|AGBL1_ENST00000389298.3_Silent_p.E492E	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	761					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						ATCCAGGAGAGAGCAATGCCA	0.443000													9	49					0	0	0.000442599	0	0
AGPAT6	137964	broad.mit.edu	37	8	41467308	41467308	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr8:41467308G>T	ENST00000396987.3	+	4	1297	c.370G>T	c.(370-372)Gag>Tag	p.E124*	RP11-360L9.8_ENST00000581909.1_RNA	NM_178819.3	NP_848934.1	Q86UL3	GPAT4_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 6	124					acyl-CoA metabolic process|lactation|phosphatidylcholine biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	glycerol-3-phosphate O-acyltransferase activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(6)	14	Ovarian(28;0.00769)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.0131)|Lung NSC(58;0.0363)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	OV - Ovarian serous cystadenocarcinoma(14;0.00126)|Colorectal(10;0.0014)|Lung(22;0.00177)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0147)			GAAAGGAATGGAGACCATTAT	0.448000													23	93					1.85244e-09	7.9093e-09	0.00047179	1	0
OR52R1	119695	broad.mit.edu	37	11	4824685	4824685	+	Missense_Mutation	SNP	C	C	T			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr11:4824685C>T	ENST00000380382.1	-	1	1162	c.1163G>A	c.(1162-1164)gGa>gAa	p.G388E	MMP26_ENST00000380390.1_Intron|OR52R1_ENST00000356069.2_Missense_Mutation_p.G309E|MMP26_ENST00000477339.1_Intron			Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	309					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCCACAACATCCTTGGATAAC	0.448000													17	40					0	0	0.000566183	0	0
C14orf39	317761	broad.mit.edu	37	14	60921813	60921813	+	Missense_Mutation	SNP	G	G	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr14:60921813G>A	ENST00000321731.3	-	16	1568	c.1409C>T	c.(1408-1410)cCt>cTt	p.P470L		NM_174978.2	NP_777638.2	Q08AQ4	Q08AQ4_HUMAN	chromosome 14 open reading frame 39	470										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		AGAAAGTCCAGGGGATTCCTT	0.294000													21	71					0	0	0.00121646	0	0
MUC16	94025	broad.mit.edu	37	19	8996340	8996340	+	Silent	SNP	G	G	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr19:8996340G>A	ENST00000397910.4	-	61	41435	c.41232C>T	c.(41230-41232)aaC>aaT	p.N13744N	MUC16_ENST00000380951.5_Silent_p.N385N	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13746	SEA 11.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGAGGCTGTCGTTGTCCAGGG	0.542000													37	133					0	0	0.000680045	0	0
ZNF518B	85460	broad.mit.edu	37	4	10447404	10447404	+	Silent	SNP	T	T	C			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr4:10447404T>C	ENST00000326756.3	-	3	987	c.549A>G	c.(547-549)aaA>aaG	p.K183K		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	183					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						TGCCTGTGTGTTTCACCAAAT	0.388000													37	83					0	0	0.000953801	0	0
DNAH9	1770	broad.mit.edu	37	17	11700945	11700945	+	Missense_Mutation	SNP	G	G	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr17:11700945G>A	ENST00000262442.3	+	43	8323	c.8255G>A	c.(8254-8256)aGc>aAc	p.S2752N	DNAH9_ENST00000454412.2_Missense_Mutation_p.S2752N	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2752					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CAGACCCAAAGCCCGAACCTG	0.507000													6	26					0	0	0.000157383	0	0
SHANK1	50944	broad.mit.edu	37	19	51219543	51219543	+	Missense_Mutation	SNP	G	G	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr19:51219543G>A	ENST00000293441.1	-	2	466	c.448C>T	c.(448-450)Ccc>Tcc	p.P150S	SHANK1_ENST00000359082.3_Missense_Mutation_p.P150S|SHANK1_ENST00000391814.1_Missense_Mutation_p.P150S	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	150					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		TCCAGGTAGGGGACCCCCTTC	0.582000													16	89					0	0	0.000566183	0	0
PSMB11	122706	broad.mit.edu	37	14	23512032	23512032	+	Missense_Mutation	SNP	G	G	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr14:23512032G>A	ENST00000408907.2	+	1	657	c.598G>A	c.(598-600)Gaa>Aaa	p.E200K		NM_001099780.1	NP_001093250.1	A5LHX3	PSB11_HUMAN	proteasome (prosome, macropain) subunit, beta type, 11	200					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			endometrium(1)|kidney(2)|lung(4)	7	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00643)		GAGCACCCAGGAAGCCTACGC	0.642000													14	31					0	0	0.000308642	0	0
PTEN	5728	broad.mit.edu	37	10	89653814	89653814	+	Missense_Mutation	SNP	C	C	T			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr10:89653814C>T	ENST00000371953.3	+	2	1469	c.112C>T	c.(112-114)Cct>Tct	p.P38S		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	38	Phosphatase tensin-type.				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 cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|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|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain 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.?(8)|p.P38S(5)|p.Y27fs*1(2)		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)		TATGGGATTTCCTGCAGAAAG	0.284000		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)			11	26					0	0	0.00185496	0	0
ITPR1	3708	broad.mit.edu	37	3	4825540	4825540	+	Missense_Mutation	SNP	C	C	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr3:4825540C>A	ENST00000354582.6	+	50	6856	c.6506C>A	c.(6505-6507)cCt>cAt	p.P2169H	ITPR1_ENST00000423119.2_Missense_Mutation_p.P2136H|ITPR1_ENST00000443694.2_Missense_Mutation_p.P2169H|ITPR1_ENST00000456211.2_Missense_Mutation_p.P2121H|ITPR1_ENST00000357086.4_Missense_Mutation_p.P2136H|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000302640.8_Missense_Mutation_p.P2169H			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2184					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		ATGCTGAAACCTGGTGGCCAA	0.493000													4	6					1.23904e-05	5.2315e-05	0.000602214	1	0
MPP2	4355	broad.mit.edu	37	17	41958897	41958897	+	Missense_Mutation	SNP	C	C	T			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr17:41958897C>T	ENST00000269095.4	-	7	1046	c.742G>A	c.(742-744)Gaa>Aaa	p.E248K	MPP2_ENST00000377184.3_Missense_Mutation_p.E265K|MPP2_ENST00000536246.1_Missense_Mutation_p.E237K|MPP2_ENST00000523501.1_Missense_Mutation_p.E237K|MPP2_ENST00000520305.1_Missense_Mutation_p.E109K|MPP2_ENST00000518766.1_Missense_Mutation_p.E293K|MPP2_ENST00000461854.1_Missense_Mutation_p.E272K	NM_001278370.1|NM_001278381.1|NM_005374.3	NP_001265299.1|NP_001265310.1|NP_005365.3	Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	272					signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		AGGCCTGCTTCCTTGCAGGGG	0.602000													16	48					0	0	0.000566183	0	0
FRG1B	284802	broad.mit.edu	37	20	29625941	29625941	+	Missense_Mutation	SNP	A	A	T			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr20:29625941A>T	ENST00000278882.3	+	5	565	c.185A>T	c.(184-186)gAt>gTt	p.D62V	FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V|FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V														p.D62V(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGCATTCAGATGCAATTGGA	0.333000													6	61					0	0	0.00198382	0	0
PKHD1	5314	broad.mit.edu	37	6	51913356	51913356	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr6:51913356G>A	ENST00000371117.3	-	23	2616	c.2341C>T	c.(2341-2343)Cga>Tga	p.R781*	PKHD1_ENST00000340994.4_Nonsense_Mutation_p.R781*	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	781					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GTCCGCTGTCGTCTCTGTGTC	0.507000													13	84					0	0	0.00136819	0	0
NXNL1	115861	broad.mit.edu	37	19	17571529	17571529	+	Silent	SNP	G	G	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr19:17571529G>A	ENST00000301944.2	-	1	234	c.150C>T	c.(148-150)ttC>ttT	p.F50F	CTD-2521M24.10_ENST00000594663.1_5'UTR	NM_138454.1	NP_612463.1	Q96CM4	NXNL1_HUMAN	nucleoredoxin-like 1	50	Thioredoxin.				cell redox homeostasis	nuclear outer membrane				central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	6						GGATGGGCACGAAGGCCTGGC	0.617000													22	63					0	0	0.00278032	0	0
APOB	338	broad.mit.edu	37	2	21231015	21231015	+	Missense_Mutation	SNP	C	C	T			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr2:21231015C>T	ENST00000233242.1	-	26	8852	c.8725G>A	c.(8725-8727)Gag>Aag	p.E2909K		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2909					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GTCTTGATCTCGTTGCGCAGG	0.468000													136	378					0	0	0.000781405	0	0
COL22A1	169044	broad.mit.edu	37	8	139601587	139601587	+	Missense_Mutation	SNP	C	C	T			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr8:139601587C>T	ENST00000303045.6	-	65	5236	c.4790G>A	c.(4789-4791)gGa>gAa	p.G1597E	COL22A1_ENST00000435777.1_Missense_Mutation_p.G1577E|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1597	Collagen-like 16.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			ACCGGGAGGTCCTGGGAGGCC	0.627000										HNSCC(7;0.00092)			6	35					0	0	0.000157383	0	0
MYH4	4622	broad.mit.edu	37	17	10359836	10359836	+	Missense_Mutation	SNP	C	C	T			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr17:10359836C>T	ENST00000255381.2	-	17	2044	c.1934G>A	c.(1933-1935)gGt>gAt	p.G645D	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	645	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GAAAGAAGAACCCTTCTTTTT	0.328000													8	66					0	0	0.000274275	0	0
FAM92A1	137392	broad.mit.edu	37	8	94722022	94722022	+	Silent	SNP	T	T	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr8:94722022T>A	ENST00000518322.1	+	6	603	c.462T>A	c.(460-462)gcT>gcA	p.A154A	FAM92A1_ENST00000519679.1_5'UTR|FAM92A1_ENST00000517718.1_5'UTR|FAM92A1_ENST00000423990.2_Silent_p.A154A	NM_145269.3	NP_660312.2	A1XBS5	F92A1_HUMAN	family with sequence similarity 92, member A1	154										NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)	7	Breast(36;2.4e-06)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			TACAGAGAGCTGCAATGGATG	0.358000													6	25					0	0	0.00116845	0	0
IRF6	3664	broad.mit.edu	37	1	209974754	209974754	+	Missense_Mutation	SNP	G	G	A	rs28942093		TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr1:209974754G>A	ENST00000367021.3	-	3	177	c.5C>T	c.(4-6)gCc>gTc	p.A2V	IRF6_ENST00000542854.1_Intron	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	2			A -> V (in VWS; dbSNP:rs28942093).		cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		GGGGTGGAGGGCCATGATCTG	0.597000										HNSCC(57;0.16)			14	77					0	0	0.000422831	0	0
PRIM2	5558	broad.mit.edu	37	6	57246833	57246833	+	Missense_Mutation	SNP	C	C	T			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr6:57246833C>T	ENST00000607273.1	+	7	647	c.560C>T	c.(559-561)cCt>cTt	p.P187L	PRIM2_ENST00000389488.2_3'UTR	NM_000947.2	NP_000938.2	P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)	187					DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		ATTCAGATCCCTTTTGCTGAT	0.353000													6	28					0	0	0.00116845	0	0
XIRP2	129446	broad.mit.edu	37	2	168103971	168103971	+	Silent	SNP	A	A	G			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr2:168103971A>G	ENST00000409195.1	+	9	6158	c.6069A>G	c.(6067-6069)aaA>aaG	p.K2023K	XIRP2_ENST00000409273.1_Silent_p.K1801K|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Silent_p.K2023K	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1848					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						AAGCCCCCAAAGGCACTGTAA	0.403000													13	42					0	0	0.00244969	0	0
RTFDC1	51507	broad.mit.edu	37	20	55052148	55052148	+	Silent	SNP	C	C	G			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr20:55052148C>G	ENST00000023939.4	+	4	473	c.366C>G	c.(364-366)ccC>ccG	p.P122P	RTFDC1_ENST00000357348.5_Silent_p.P152P|RTFDC1_ENST00000395881.3_Silent_p.P122P	NM_016407.3	NP_057491.2			replication termination factor 2 domain containing 1																		TCATCTGCCCCGTTGTGGGCC	0.562000													9	35					0	0	0.000274275	0	0
DSP	1832	broad.mit.edu	37	6	7572218	7572218	+	Missense_Mutation	SNP	G	G	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr6:7572218G>A	ENST00000379802.3	+	15	2388	c.2047G>A	c.(2047-2049)Gag>Aag	p.E683K	DSP_ENST00000418664.2_Missense_Mutation_p.E683K	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	683	Globular 1.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AGAGCACTGCGAGGGCAGGAT	0.443000													9	50					0	0	0.000442599	0	0
LOC645752	645752	broad.mit.edu	37	15	78211548	78211548	+	RNA	SNP	T	T	C			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr15:78211548T>C	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							CCACCTGGGATTGGAGCTTTC	0.562000													5	150					0	0	0.000602214	0	0
COL11A1	1301	broad.mit.edu	37	1	103491454	103491454	+	Missense_Mutation	SNP	C	C	T			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr1:103491454C>T	ENST00000358392.2	-	6	1152	c.835G>A	c.(835-837)Gaa>Aaa	p.E279K	COL11A1_ENST00000512756.1_Intron|COL11A1_ENST00000353414.4_Intron|COL11A1_ENST00000370096.3_Intron	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	279	Nonhelical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TTGGATTTTTCCTTTGATTTA	0.338000													22	95					0	0	0.00188189	0	0
DSCR10	259234	broad.mit.edu	37	21	39580553	39580553	+	RNA	SNP	G	G	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr21:39580553G>A	ENST00000432141.1	+	0	675					NR_027695.1																						GTTTGCCATCGAAGGAAAACC	0.403000													57	194					0	0	0.000781405	0	0
MPHOSPH8	54737	broad.mit.edu	37	13	20221047	20221047	+	Silent	SNP	C	C	T			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr13:20221047C>T	ENST00000361479.5	+	3	902	c.834C>T	c.(832-834)gaC>gaT	p.D278D	MPHOSPH8_ENST00000414242.2_Silent_p.D278D	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	278					cell cycle	cytoplasm|nucleus				breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		CAGAGGATGACAGTGAAGGGC	0.423000													20	100					0	0	0.00152264	0	0
SPTA1	6708	broad.mit.edu	37	1	158650408	158650408	+	Missense_Mutation	SNP	C	C	T			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr1:158650408C>T	ENST00000368148.3	-	5	823	c.643G>A	c.(643-645)Gtt>Att	p.V215I	SPTA1_ENST00000368147.3_Missense_Mutation_p.V215I	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	215					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TTCACTTCAACAACTCTCCCT	0.468000													44	104					0	0	0.000781405	0	0
TEAD2	8463	broad.mit.edu	37	19	49852044	49852044	+	Silent	SNP	G	G	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr19:49852044G>A	ENST00000377214.4	-	7	1022	c.660C>T	c.(658-660)gcC>gcT	p.A220A	TEAD2_ENST00000539846.1_Silent_p.A89A|TEAD2_ENST00000598397.1_5'UTR|TEAD2_ENST00000598810.1_Silent_p.A221A|TEAD2_ENST00000311227.2_Silent_p.A217A|TEAD2_ENST00000601519.1_Silent_p.A220A|TEAD2_ENST00000593945.1_Silent_p.A221A			Q15562	TEAD2_HUMAN	TEA domain family member 2	217	Transcriptional activation (Potential).				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	29		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)		GAGCCTGCCAGGCTGGGGGCG	0.577000													7	39					0	0	0.00198382	0	0
CERS2	29956	broad.mit.edu	37	1	150940901	150940901	+	Silent	SNP	G	G	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr1:150940901G>A	ENST00000271688.6	-	3	647	c.261C>T	c.(259-261)ttC>ttT	p.F87F	CERS2_ENST00000368954.5_Silent_p.F87F|CERS2_ENST00000561294.1_Silent_p.F87F|CERS2_ENST00000345896.4_5'UTR	NM_181746.3	NP_859530.1	Q96G23	CERS2_HUMAN	ceramide synthase 2	87						endoplasmic reticulum membrane|integral to membrane|nuclear membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										TGGTCAGGTAGAAATGTTCCA	0.567000													16	33					0	0	0.000308642	0	0
GJB3	2707	broad.mit.edu	37	1	35250960	35250960	+	Silent	SNP	C	C	T			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr1:35250960C>T	ENST00000373366.2	+	2	1212	c.597C>T	c.(595-597)atC>atT	p.I199I	GJB3_ENST00000373362.3_Silent_p.I199I|RP1-34M23.5_ENST00000542839.1_RNA	NM_024009.2	NP_076872.1	O75712	CXB3_HUMAN	gap junction protein, beta 3, 31kDa	199					cell communication	connexon complex|integral to membrane	gap junction channel activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|prostate(3)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				CCGTCTGCATCGTACTCACCA	0.612000													9	42					0	0	0.000442599	0	0
OR1S2	219958	broad.mit.edu	37	11	57971240	57971240	+	Silent	SNP	C	C	T	rs145253819		TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr11:57971240C>T	ENST00000302592.6	-	1	413	c.414G>A	c.(412-414)gcG>gcA	p.A138A		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	138					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				GGTGGCAGATCGCCACAAAGT	0.463000													29	60					0	0	0.00127121	0	0
GARNL3	84253	broad.mit.edu	37	9	130117744	130117744	+	Missense_Mutation	SNP	A	A	G			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr9:130117744A>G	ENST00000373387.4	+	20	2280	c.1928A>G	c.(1927-1929)tAc>tGc	p.Y643C	GARNL3_ENST00000435213.2_Missense_Mutation_p.Y621C|GARNL3_ENST00000314904.5_Missense_Mutation_p.Y643C|GARNL3_ENST00000496711.1_3'UTR	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	643	CNH.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						GAATTCCAGTACATCAGGGTA	0.458000													32	213					0	0	0.00178596	0	0
NLRP13	126204	broad.mit.edu	37	19	56424151	56424151	+	Silent	SNP	G	G	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr19:56424151G>A	ENST00000588751.1	-	5	1056	c.1032C>T	c.(1030-1032)atC>atT	p.I344I	NLRP13_ENST00000342929.3_Silent_p.I344I			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	344	NACHT.						ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		AGCTGTGTAGGATTTTGGTCA	0.463000													17	79					0	0	0.000422831	0	0
MIR124-2HG	100130155	broad.mit.edu	37	8	65291816	65291816	+	RNA	SNP	G	G	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr8:65291816G>A	ENST00000521441.1	+	0	655																											GCACTTGAAGGACACCAAAGC	0.512000													9	23					0	0	0.000442599	0	0
GLIS3	169792	broad.mit.edu	37	9	4118392	4118392	+	Silent	SNP	C	C	T			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr9:4118392C>T	ENST00000324333.10	-	3	814	c.621G>A	c.(619-621)ccG>ccA	p.P207P	GLIS3_ENST00000381971.3_Silent_p.P362P	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	207					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		GCACCGGGCGCGGCTGGGGAA	0.736000													4	8					0	0	0.00024832	0	0
CLPTM1L	81037	broad.mit.edu	37	5	1339007	1339007	+	Silent	SNP	G	G	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr5:1339007G>A	ENST00000320895.5	-	4	824	c.567C>T	c.(565-567)tcC>tcT	p.S189S	CLPTM1L_ENST00000507807.1_Silent_p.S56S|CLPTM1L_ENST00000320927.6_Silent_p.S189S	NM_030782.3	NP_110409.2	Q96KA5	CLP1L_HUMAN	CLPTM1-like	189					apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)		CGGCAGGCAGGGAGGACCCGT	0.647000													9	47					0	0	0.000673444	0	0
LMTK3	114783	broad.mit.edu	37	19	49012169	49012169	+	Missense_Mutation	SNP	G	G	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr19:49012169G>A	ENST00000600059.1	-	5	723	c.496C>T	c.(496-498)Ctc>Ttc	p.L166F	LMTK3_ENST00000270238.3_Missense_Mutation_p.L195F					lemur tyrosine kinase 3											breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		CTGGCTCGGAGCTCCTTCACC	0.617000													17	66					0	0	0.000958276	0	0
PCDHGB3	56102	broad.mit.edu	37	5	140751639	140751639	+	Missense_Mutation	SNP	C	C	T			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr5:140751639C>T	ENST00000576222.1	+	1	1809	c.1678C>T	c.(1678-1680)Ccg>Tcg	p.P560S	PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGACAATGCACCGCTGGTGCT	0.662000													4	29					0	0	0.00024832	0	0
ITGA8	8516	broad.mit.edu	37	10	15688978	15688978	+	Silent	SNP	C	C	T			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr10:15688978C>T	ENST00000378076.3	-	12	1427	c.1074G>A	c.(1072-1074)ggG>ggA	p.G358G		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	358					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						GGTAGATTTGCCCTACTTCTC	0.507000													14	56					0	0	0.000308642	0	0
METTL7B	196410	broad.mit.edu	37	12	56077753	56077753	+	Missense_Mutation	SNP	G	G	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr12:56077753G>A	ENST00000394252.3	+	2	864	c.655G>A	c.(655-657)Gaa>Aaa	p.E219K		NM_152637.2	NP_689850.2	Q6UX53	MET7B_HUMAN	methyltransferase like 7B	219							methyltransferase activity			kidney(1)|large_intestine(1)|lung(4)	6						CCAGTTCTCCGAAATCCAAAT	0.542000													43	66					0	0	0.00170553	0	0
CDC16	8881	broad.mit.edu	37	13	115002333	115002333	+	Missense_Mutation	SNP	A	A	G			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr13:115002333A>G	ENST00000360383.3	+	3	361	c.163A>G	c.(163-165)Aga>Gga	p.R55G	CDC16_ENST00000375308.1_5'UTR|CDC16_ENST00000375310.1_5'UTR|CDC16_ENST00000375312.3_5'UTR|CDC16_ENST00000356221.3_Missense_Mutation_p.R55G|CDC16_ENST00000252458.6_5'UTR|CDC16_ENST00000252457.5_Missense_Mutation_p.R54G	NM_001078645.1|NM_003903.3	NP_001072113.1|NP_003894.3	Q13042	CDC16_HUMAN	cell division cycle 16	55					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cell proliferation|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	binding			endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)			ACAATATCACAGAGCCGCCCA	0.438000													19	50					0	0	0.00074312	0	0
RYR3	6263	broad.mit.edu	37	15	33955848	33955848	+	Silent	SNP	C	C	T			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr15:33955848C>T	ENST00000389232.4	+	36	5599	c.5529C>T	c.(5527-5529)ttC>ttT	p.F1843F	RYR3_ENST00000415757.3_Silent_p.F1843F	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1843	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ATCAGAAGTTCCGCTACAATG	0.572000													4	17					0	0	0.00024832	0	0
SRGAP2-AS1	100873165	broad.mit.edu	37	1	121137791	121137793	+	RNA	DEL	CCA	CCA	-	rs28552466	by1000genomes	TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr1:121137791_121137793delCCA	ENST00000437515.1	-	0	329																											ATTTCGCCCTCCACCGCCGCCGC	0.631													6	13	---	---	---	---					
HDGFL1	154150	broad.mit.edu	37	6	22570346	22570347	+	In_Frame_Ins	INS	-	-	GGC			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr6:22570346_22570347insGGC	ENST00000510882.2	+	1	552_553	c.542_543insGGC	c.(541-543)agc>aGGCgc	p.181_181S>RR	HDGFL1_ENST00000230012.3_In_Frame_Ins_p.181_181S>RR			Q5TGJ6	HDGL1_HUMAN	hepatoma derived growth factor-like 1	181	Ala-rich.|Glu-rich.									kidney(1)|large_intestine(3)|lung(7)	11	Ovarian(93;0.163)					gaagcggagagggcggcggcgg	0.767													2	4	---	---	---	---					
HSP90AB1	3326	broad.mit.edu	37	6	44220932	44220932	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr6:44220932delA	ENST00000371554.1	+	11	2096	c.1882delA	c.(1882-1884)tcfs	p.I628fs	HSP90AB1_ENST00000371646.5_Frame_Shift_Del_p.I628fs|HSP90AB1_ENST00000353801.3_Frame_Shift_Del_p.I628fs			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	628					axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GCACCTGGAGATCAACCCTGA	0.547													17	127	---	---	---	---					
EMG1	10436	broad.mit.edu	37	12	7080212	7080213	+	RNA	INS	-	-	C	rs36063533		TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr12:7080212_7080213insC	ENST00000546220.1	+	0	157_158				U47924.19_ENST00000564245.1_RNA|U47924.28_ENST00000261406.6_lincRNA			Q92979	NEP1_HUMAN	EMG1 N1-specific pseudouridine methyltransferase						ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding										GAGGCCGTAGTTTATTGTGGTG	0.569													6	12	---	---	---	---					
RP11-405A12.2	0	broad.mit.edu	37	12	20096042	20096042	+	RNA	DEL	A	A	-			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr12:20096042delA	ENST00000535764.1	+	0	212																											ACAAGCTGTTAAAAAAAAAAT	0.303													2	4	---	---	---	---					
MIS18BP1	55320	broad.mit.edu	37	14	45716018	45716019	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr14:45716018_45716019insT	ENST00000310806.4	-	2	929_930	c.471_472insA	c.(469-474)aatgcafs	p.NA157fs		NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	157					cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding	p.K157fs*24(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						GTATGCTGCAATTTTTTTTTTT	0.356													9	109	---	---	---	---					
HERC2P4	100289574	broad.mit.edu	37	16	32126912	32126912	+	RNA	DEL	A	A	-			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr16:32126912delA	ENST00000564145.1	-	0	456																											TATTTTGCCCACCCGCCGCCG	0.602													4	4	---	---	---	---