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
SCN3A	6328	broad.mit.edu	37	2	165947586	165947586	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr2:165947586C>G	ENST00000360093.3	-	28	5568	c.5077G>C	c.(5077-5079)Gag>Cag	p.E1693Q	AC013463.2_ENST00000431341.1_RNA|SCN3A_ENST00000540861.1_Missense_Mutation_p.E176Q|SCN3A_ENST00000283254.7_Missense_Mutation_p.E1693Q|SCN3A_ENST00000409101.3_Missense_Mutation_p.E1644Q	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1693						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	CCAAAGGTCTCAAAGTTGAAC	0.448000													21	81					0	0	1	0	0
NOP56	10528	broad.mit.edu	37	20	2638598	2638598	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr20:2638598G>C	ENST00000329276.5	+	12	1959	c.1443G>C	c.(1441-1443)aaG>aaC	p.K481N	NOP56_ENST00000492135.1_3'UTR	NM_006392.3	NP_006383.2	O00567	NOP56_HUMAN	NOP56 ribonucleoprotein	481	Lys-rich.				rRNA processing	box C/D snoRNP complex|pre-snoRNP complex	protein binding|snoRNA binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						AACCCAAAAAGAAGAAAAAGC	0.443000													28	101					0	0	1	0	0
ZNF778	197320	broad.mit.edu	37	16	89294548	89294548	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr16:89294548G>A	ENST00000433976.2	+	6	2100	c.1768G>A	c.(1768-1770)Gaa>Aaa	p.E590K	RP11-46C24.6_ENST00000563182.1_RNA|ZNF778_ENST00000306502.6_Missense_Mutation_p.E548K	NM_001201407.1|NM_182531.3	NP_001188336.1|NP_872337.2	Q96MU6	ZN778_HUMAN	zinc finger protein 778	590					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)	24				BRCA - Breast invasive adenocarcinoma(80;0.0269)		GAAACCTTATGAATGTAAAGT	0.443000													16	47					0	0	1	0	0
NOMO1	23420	broad.mit.edu	37	16	14947427	14947427	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr16:14947427C>G	ENST00000287667.7	+	8	1010	c.839C>G	c.(838-840)tCt>tGt	p.S280C	NOMO1_ENST00000566883.1_3'UTR	NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	280						integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						GGCTCGTTCTCTTTCTATTCC	0.502000													46	164					0	0	1	0	0
TEX2	55852	broad.mit.edu	37	17	62271135	62271135	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr17:62271135C>T	ENST00000258991.3	-	4	2044	c.1960G>A	c.(1960-1962)Gag>Aag	p.E654K	TEX2_ENST00000584379.1_Missense_Mutation_p.E654K|TEX2_ENST00000583097.1_Missense_Mutation_p.E654K			Q8IWB9	TEX2_HUMAN	testis expressed 2	654					signal transduction|sphingolipid metabolic process	integral to membrane				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		TCTGAAGTCTCCTTATCAGTC	0.478000													5	136					0	0	1	0	0
MTHFD1	4522	broad.mit.edu	37	14	64877818	64877818	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr14:64877818G>C	ENST00000545908.1	+	3	534	c.305G>C	c.(304-306)aGa>aCa	p.R102T	MTHFD1_ENST00000216605.8_Missense_Mutation_p.R46T			P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	46	Methylenetetrahydrofolate dehydrogenase and cyclohydrolase.				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	GTTGGCAACAGAGATGATTCC	0.408000													6	41					0	0	1	0	0
OR4F6	390648	broad.mit.edu	37	15	102346017	102346017	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr15:102346017C>T	ENST00000328882.4	+	1	116	c.95C>T	c.(94-96)tCa>tTa	p.S32L		NM_001005326.1	NP_001005326.1	Q8NGB9	OR4F6_HUMAN	olfactory receptor, family 4, subfamily F, member 6	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S32L(1)		breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			CTCTTTTTCTCAGTGTTCTAT	0.507000													20	95					0	0	1	0	0
LOC494141	494141	broad.mit.edu	37	11	18231297	18231297	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr11:18231297G>A	ENST00000527059.1	+	1	543	c.83G>A	c.(82-84)aGa>aAa	p.R28K	RP11-113D6.10_ENST00000340135.3_Missense_Mutation_p.R28K|RP11-113D6.10_ENST00000534640.1_Missense_Mutation_p.R28K																							TTCGAAACAAGATATGTCACC	0.378000													4	16					0	0	1	0	0
EFS	10278	broad.mit.edu	37	14	23826696	23826696	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr14:23826696C>G	ENST00000216733.3	-	6	2032	c.1425G>C	c.(1423-1425)aaG>aaC	p.K475N	EFS_ENST00000429593.2_Missense_Mutation_p.K306N|EFS_ENST00000351354.3_Missense_Mutation_p.K382N	NM_005864.2	NP_005855.1	O43281	EFS_HUMAN	embryonal Fyn-associated substrate	475	Divergent helix-loop-helix motif.				cell adhesion|intracellular signal transduction	cytoplasm	SH3 domain binding			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00649)		CCACCACCCTCTTGCTGTGGG	0.647000													10	24					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92523307	92523307	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr11:92523307G>C	ENST00000298047.6	+	7	4551	c.4534G>C	c.(4534-4536)Gac>Cac	p.D1512H	FAT3_ENST00000409404.2_Missense_Mutation_p.D1512H|FAT3_ENST00000525166.1_Missense_Mutation_p.D1362H			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1512	Cadherin 14.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATTCCGGATTGACCCTAGCAC	0.488000										TCGA Ovarian(4;0.039)			21	61					0	0	1	0	0
RASGEF1B	153020	broad.mit.edu	37	4	82366753	82366753	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr4:82366753C>A	ENST00000509081.1	-	8	1073	c.852G>T	c.(850-852)atG>atT	p.M284I	RASGEF1B_ENST00000335927.7_Missense_Mutation_p.M243I|RASGEF1B_ENST00000264400.2_Missense_Mutation_p.M285I			Q0VAM2	RGF1B_HUMAN	RasGEF domain family, member 1B	285	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	26						AATACTCAATCATTCTTGCTC	0.388000													16	65					8.60227e-14	9.18921e-14	1	1	0
AHNAK	79026	broad.mit.edu	37	11	62284479	62284479	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr11:62284479C>A	ENST00000378024.4	-	5	17684	c.17410G>T	c.(17410-17412)Ggg>Tgg	p.G5804W	AHNAK_ENST00000525875.1_Intron|AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5804					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GACACTTCCCCACCTTCAAAC	0.483000													18	45					5.35267e-07	5.56366e-07	1	1	0
UBE2T	29089	broad.mit.edu	37	1	202302415	202302415	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr1:202302415G>C	ENST00000367274.4	-	5	483	c.334C>G	c.(334-336)Cag>Gag	p.Q112E		NM_014176.3	NP_054895.1	Q9NPD8	UBE2T_HUMAN	ubiquitin-conjugating enzyme E2T (putative)	112					DNA repair|protein K11-linked ubiquitination|protein K27-linked ubiquitination|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination	nucleoplasm	ATP binding|ubiquitin-protein ligase activity			large_intestine(1)|lung(3)|skin(1)	5						ATGAGCAGCTGAATAGAGGTC	0.433000													9	161					0	0	1	0	0
KLHL42	57542	broad.mit.edu	37	12	27933986	27933986	+	Silent	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr12:27933986C>G	ENST00000381271.2	+	1	1034	c.723C>G	c.(721-723)gtC>gtG	p.V241V	RP11-860B13.1_ENST00000545904.1_RNA	NM_020782.1	NP_065833.1			kelch-like family member 42																		CCGACCTGGTCAATGTCAGGG	0.602000													5	17					0	0	1	0	0
CTC1	80169	broad.mit.edu	37	17	8146437	8146437	+	Silent	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr17:8146437G>C	ENST00000315684.8	-	2	70	c.63C>G	c.(61-63)gtC>gtG	p.V21V	CTC1_ENST00000581671.1_Intron	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	21					positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						TTTGGATGAAGACCTGAGCAT	0.463000													5	19					0	0	1	0	0
GABRB2	2561	broad.mit.edu	37	5	160753407	160753407	+	Missense_Mutation	SNP	G	G	A	rs140795978		TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr5:160753407G>A	ENST00000274547.2	-	10	1376	c.1159C>T	c.(1159-1161)Cgg>Tgg	p.R387W	GABRB2_ENST00000517901.1_Intron|GABRB2_ENST00000520240.1_Intron|GABRB2_ENST00000393959.1_Missense_Mutation_p.R387W|GABRB2_ENST00000517547.1_Intron|GABRB2_ENST00000353437.6_Intron	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	387					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	ttggtagtccgtctagttggg	0.383000													14	66					0	0	1	0	0
TOR1AIP2	163590	broad.mit.edu	37	1	179815353	179815353	+	Silent	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr1:179815353G>C	ENST00000367612.3	-	6	1653	c.1266C>G	c.(1264-1266)ctC>ctG	p.L422L	TOR1AIP2_ENST00000609928.1_Silent_p.L422L	NM_145034.4	NP_659471.1	Q8NFQ8	TOIP2_HUMAN	torsin A interacting protein 2	422						endoplasmic reticulum membrane|integral to membrane	protein binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(10)|ovary(1)|skin(2)	18						ACTTGGCCCAGAGTAAGTCTC	0.493000													27	56					0	0	1	0	0
PGLYRP1	8993	broad.mit.edu	37	19	46522604	46522604	+	Silent	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr19:46522604C>T	ENST00000008938.4	-	3	526	c.483G>A	c.(481-483)ctG>ctA	p.L161L	CCDC61_ENST00000601763.1_Intron	NM_005091.2	NP_005082.1	O75594	PGRP1_HUMAN	peptidoglycan recognition protein 1	161					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region	bacterial cell surface binding|N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|large_intestine(3)|lung(3)|ovary(2)	10		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.0036)|GBM - Glioblastoma multiforme(486;0.022)|Epithelial(262;0.208)		AGTTGGACCTCAGGGCTCCCT	0.622000													4	15					0	0	1	0	0
SLC5A3	6526	broad.mit.edu	37	21	35468986	35468986	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr21:35468986G>C	ENST00000608209.1	+	2	2001	c.1489G>C	c.(1489-1491)Gac>Cac	p.D497H	SLC5A3_ENST00000381151.3_Missense_Mutation_p.D497H|AP000320.7_ENST00000362077.4_RNA|MRPS6_ENST00000399312.2_Intron	NM_006933.4	NP_008864.3	P53794	SC5A3_HUMAN	solute carrier family 5 (sodium/myo-inositol cotransporter), member 3							integral to plasma membrane	myo-inositol:sodium symporter activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						CCCAGAATGTGACCAACCTGA	0.488000													11	50					0	0	1	0	0
SAG	6295	broad.mit.edu	37	2	234243683	234243683	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr2:234243683G>C	ENST00000409110.1	+	11	1112	c.882G>C	c.(880-882)agG>agC	p.R294S	SAG_ENST00000449594.2_Missense_Mutation_p.R160S	NM_000541.4	NP_000532.2	P10523	ARRS_HUMAN	S-antigen; retina and pineal gland (arrestin)	294					rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway		protein phosphatase inhibitor activity			cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)		ATCGAGAAAGGAGAGGCATTG	0.532000													7	33					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152787177	152787177	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr6:152787177C>T	ENST00000367255.5	-	17	2270	c.1669G>A	c.(1669-1671)Gag>Aag	p.E557K	SYNE1_ENST00000448038.1_Missense_Mutation_p.E564K|SYNE1_ENST00000341594.5_Missense_Mutation_p.E564K|SYNE1_ENST00000495090.2_Missense_Mutation_p.E124K|SYNE1_ENST00000367248.3_Missense_Mutation_p.E547K|SYNE1_ENST00000265368.4_Missense_Mutation_p.E557K|SYNE1_ENST00000367253.4_Missense_Mutation_p.E557K|SYNE1_ENST00000466159.2_Missense_Mutation_p.E557K|SYNE1_ENST00000413186.2_Missense_Mutation_p.E557K|SYNE1_ENST00000423061.1_Missense_Mutation_p.E564K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	557					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	p.E557Q(2)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TATGTCACCTCATATTGTTCA	0.368000										HNSCC(10;0.0054)			7	37					0	0	1	0	0
CHRNB1	1140	broad.mit.edu	37	17	7351982	7351982	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr17:7351982G>A	ENST00000306071.2	+	7	762	c.695G>A	c.(694-696)cGc>cAc	p.R232H	CHRNB1_ENST00000536404.2_Missense_Mutation_p.R160H|CHRNB1_ENST00000576360.1_Missense_Mutation_p.R160H	NM_000747.2	NP_000738.2	P11230	ACHB_HUMAN	cholinergic receptor, nicotinic, beta 1 (muscle)	232					behavioral response to nicotine|muscle contraction|muscle fiber development|neuromuscular synaptic transmission|postsynaptic membrane organization|regulation of membrane potential|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine binding|receptor activity			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(3)	23		Prostate(122;0.157)				GAAGGACAGCGCCAGGAAGTC	0.562000													7	22					0	0	1	0	0
KLHL8	57563	broad.mit.edu	37	4	88106561	88106561	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr4:88106561C>T	ENST00000273963.5	-	3	948	c.607G>A	c.(607-609)Gaa>Aaa	p.E203K	KLHL8_ENST00000425278.2_Intron|KLHL8_ENST00000545252.1_Intron|KLHL8_ENST00000512111.1_Missense_Mutation_p.E203K|KLHL8_ENST00000498875.2_Missense_Mutation_p.E127K	NM_020803.3	NP_065854.3	Q9P2G9	KLHL8_HUMAN	kelch-like family member 8	203										breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		ACAAAGTCTTCACACTCCACT	0.423000													18	64					0	0	1	0	0
B3GNT1	11041	broad.mit.edu	37	11	66114591	66114591	+	Silent	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr11:66114591C>T	ENST00000311181.4	-	1	572	c.426G>A	c.(424-426)ctG>ctA	p.L142L		NM_006876.2	NP_006867.1	O43505	B3GN1_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1	142					poly-N-acetyllactosamine biosynthetic process	integral to Golgi membrane	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity			breast(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(1)	12						AGTGGCTGCTCAGCGCGTAGG	0.731000													3	5					0	0	1	0	0
PLEKHG4	25894	broad.mit.edu	37	16	67319084	67319084	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr16:67319084C>T	ENST00000360461.5	+	12	4696	c.2161C>T	c.(2161-2163)Cca>Tca	p.P721S	PLEKHG4_ENST00000379344.3_Missense_Mutation_p.P721S|PLEKHG4_ENST00000427155.2_Missense_Mutation_p.P721S|PLEKHG4_ENST00000450733.1_Missense_Mutation_p.P640S	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	721					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		TACTGTGCCTCCACCAGGCAG	0.637000													7	17					0	0	1	0	0
CA5B	11238	broad.mit.edu	37	X	15800717	15800717	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chrX:15800717C>G	ENST00000318636.3	+	8	1020	c.884C>G	c.(883-885)tCc>tGc	p.S295C	CA5B_ENST00000454127.2_Missense_Mutation_p.S295C	NM_007220.3	NP_009151.1	Q9Y2D0	CAH5B_HUMAN	carbonic anhydrase VB, mitochondrial	295					one-carbon metabolic process	mitochondrion	carbonate dehydratase activity|zinc ion binding			endometrium(1)|kidney(2)|lung(3)|prostate(1)|stomach(2)	9	Hepatocellular(33;0.183)					GTTCGTTCATCCTTCCGGCAT	0.488000													11	16					0	0	1	0	0
SWSAP1	126074	broad.mit.edu	37	19	11485452	11485452	+	Silent	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr19:11485452C>G	ENST00000312423.2	+	1	92	c.33C>G	c.(31-33)ctC>ctG	p.L11L	CTD-2342J14.6_ENST00000590399.1_RNA	NM_175871.3	NP_787067.2	Q6NVH7	CS039_HUMAN	SWIM-type zinc finger 7 associated protein 1	11																	TGCTGCTGCTCGGTACACCAG	0.672000													7	11					0	0	1	0	0
SLC32A1	140679	broad.mit.edu	37	20	37356749	37356749	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr20:37356749G>A	ENST00000217420.1	+	2	1308	c.1045G>A	c.(1045-1047)Gtg>Atg	p.V349M		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	349					neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	CGCAGCCTGCGTGCTCAAGGG	0.622000													10	23					0	0	1	0	0
SARS	6301	broad.mit.edu	37	1	109777857	109777857	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr1:109777857C>T	ENST00000369923.4	+	7	784	c.773C>T	c.(772-774)tCt>tTt	p.S258F	SARS_ENST00000234677.2_Missense_Mutation_p.S258F			P49591	SYSC_HUMAN	seryl-tRNA synthetase	258					seryl-tRNA aminoacylation|tRNA processing	cytosol	ATP binding|protein binding|RNA binding|serine-tRNA ligase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	17		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233)	L-Serine(DB00133)	AGTGAAAAGTCTGATGACAAC	0.532000													19	70					0	0	1	0	0
NFKBIA	4792	broad.mit.edu	37	14	35872475	35872475	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr14:35872475C>G	ENST00000216797.5	-	3	529	c.428G>C	c.(427-429)cGa>cCa	p.R143P	NFKBIA_ENST00000557100.1_5'UTR|NFKBIA_ENST00000557389.1_Missense_Mutation_p.R53P|NFKBIA_ENST00000557140.1_Missense_Mutation_p.R143P	NM_020529.2	NP_065390.1	P25963	IKBA_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha	143					anti-apoptosis|apoptosis|cellular response to cold|cytoplasmic sequestering of NF-kappaB|innate immune response|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of DNA binding|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|I-kappaB/NF-kappaB complex|nucleus|plasma membrane	identical protein binding|NF-kappaB binding|nuclear localization sequence binding|ubiquitin protein ligase binding	p.R143fs*11(2)		breast(3)|endometrium(1)|large_intestine(2)|liver(1)	7	Breast(36;0.0484)|Hepatocellular(127;0.158)		Lung(238;9.25e-06)|LUAD - Lung adenocarcinoma(48;1.53e-05)|Epithelial(34;0.00314)|all cancers(34;0.00891)	GBM - Glioblastoma multiforme(112;0.0222)		GGTATTTCCTCGAAAGTCTCG	0.592000													4	58					0	0	1	0	0
PTPRM	5797	broad.mit.edu	37	18	8143645	8143645	+	Splice_Site	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr18:8143645G>A	ENST00000332175.8	+	14	3205	c.2168G>A	c.(2167-2169)gGa>gAa	p.G723E	PTPRM_ENST00000580170.1_Splice_Site_p.G723E|PTPRM_ENST00000400060.4_Splice_Site_p.G723E|PTPRM_ENST00000400053.4_Splice_Site_p.G661E|PTPRM_ENST00000444013.1_Splice_Site_p.G510E	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	723					homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				TCATCTTCAGGAGCTGCCACT	0.418000													11	38					0	0	1	0	0
SETD5	55209	broad.mit.edu	37	3	9516140	9516140	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr3:9516140C>T	ENST00000402466.1	+	22	3979	c.3211C>T	c.(3211-3213)Ccc>Tcc	p.P1071S	SETD5_ENST00000406341.1_Missense_Mutation_p.P1169S|SETD5_ENST00000407969.1_Missense_Mutation_p.P1188S|SETD5_ENST00000302463.6_Missense_Mutation_p.P1071S|SETD5_ENST00000402198.1_Missense_Mutation_p.P1169S			Q9C0A6	SETD5_HUMAN	SET domain containing 5	1169										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		CAGGATGGTTCCCACATCAGT	0.517000													12	40					0	0	1	0	0
HAND1	9421	broad.mit.edu	37	5	153857170	153857170	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr5:153857170G>C	ENST00000231121.2	-	1	654	c.399C>G	c.(397-399)atC>atG	p.I133M		NM_004821.2	NP_004812.1	O96004	HAND1_HUMAN	heart and neural crest derivatives expressed 1	133	Helix-loop-helix motif.				angiogenesis|cardiac left ventricle formation|cardiac right ventricle formation|cardiac septum morphogenesis|heart looping|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|trophectodermal cell differentiation|ventricular cardiac muscle tissue morphogenesis	cytoplasm|nucleolus|nucleoplasm	bHLH transcription factor binding|DNA binding|protein homodimerization activity|transcription coactivator activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	6	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			GCAGAGTCTTGATCTTGGAGA	0.597000													16	44					0	0	1	0	0
TAS2R39	259285	broad.mit.edu	37	7	142881470	142881470	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr7:142881470G>A	ENST00000446620.1	+	1	959	c.959G>A	c.(958-960)aGa>aAa	p.R320K		NM_176881.2	NP_795362.2	P59534	T2R39_HUMAN	taste receptor, type 2, member 39	320					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	Melanoma(164;0.059)					GGGCTGAGAAGAGCCTGGAAG	0.507000													6	16					0	0	1	0	0
SLC6A15	55117	broad.mit.edu	37	12	85285857	85285857	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr12:85285857C>T	ENST00000450363.3	-	2	501	c.43G>A	c.(43-45)Gat>Aat	p.D15N	SLC6A15_ENST00000551388.1_Intron|SLC6A15_ENST00000552192.1_Intron|SLC6A15_ENST00000266682.5_Missense_Mutation_p.D15N	NM_018057.6	NP_060527.2	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	15					cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						TCAGTAACATCATCATCTAAT	0.358000													13	74					0	0	1	0	0
GBE1	2632	broad.mit.edu	37	3	81810576	81810576	+	Silent	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr3:81810576G>C	ENST00000429644.2	-	1	736	c.93C>G	c.(91-93)ctC>ctG	p.L31L		NM_000158.3	NP_000149	Q04446	GLGB_HUMAN	glucan (1,4-alpha-), branching enzyme 1	31					glucose metabolic process|glycogen biosynthetic process	cytosol	1,4-alpha-glucan branching enzyme activity|cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)		CGATCTCCAGGAGTCTGGCCA	0.677000									Glycogen Storage Disease, type IV				6	37					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49441751	49441751	+	Silent	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr12:49441751G>A	ENST00000301067.7	-	14	4232	c.4233C>T	c.(4231-4233)agC>agT	p.S1411S		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		AACTCACCTTGCTGTTGACAC	0.552000													5	19					0	0	1	0	0
PNPLA7	375775	broad.mit.edu	37	9	140438009	140438009	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr9:140438009C>G	ENST00000406427.1	-	6	717	c.381G>C	c.(379-381)aaG>aaC	p.K127N	PNPLA7_ENST00000277531.4_Missense_Mutation_p.K102N	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	102					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		GGTATTCCTTCTTGAAACGCA	0.592000													7	24					0	0	1	0	0
PRKCD	5580	broad.mit.edu	37	3	53212465	53212465	+	Silent	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr3:53212465C>T	ENST00000394729.2	+	2	355	c.27C>T	c.(25-27)ttC>ttT	p.F9F	PRKCD_ENST00000330452.3_Silent_p.F9F|PRKCD_ENST00000477794.2_3'UTR	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN	protein kinase C, delta	9	C2.				activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)		GCATCGCCTTCAACTCCTATG	0.677000													14	22					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113649141	113649141	+	Nonsense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr8:113649141G>C	ENST00000297405.5	-	22	3864	c.3620C>G	c.(3619-3621)tCa>tGa	p.S1207*	CSMD3_ENST00000352409.3_Nonsense_Mutation_p.S1207*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.S1103*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.S1167*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1207	Sushi 6.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CGAAGAGCATGAGAAGGTCAG	0.488000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			9	32					0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91690718	91690718	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr7:91690718G>C	ENST00000359028.2	+	24	6007	c.5782G>C	c.(5782-5784)Gag>Cag	p.E1928Q	AKAP9_ENST00000356239.3_Missense_Mutation_p.E1916Q|AKAP9_ENST00000491695.1_3'UTR|AKAP9_ENST00000358100.2_Missense_Mutation_p.E1928Q			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1928	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GCTAGCTGTGGAGCTCAGTAA	0.458000			T	BRAF	papillary thyroid								4	30					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7584896	7584896	+	Silent	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr6:7584896C>T	ENST00000379802.3	+	24	7742	c.7401C>T	c.(7399-7401)gtC>gtT	p.V2467V	DSP_ENST00000418664.2_Silent_p.V1868V	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2467	Globular 2.				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)		GTAGAGTGGTCATAGTTGACC	0.428000													16	48					0	0	1	0	0
NUCB1	4924	broad.mit.edu	37	19	49422373	49422373	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr19:49422373G>A	ENST00000405315.4	+	9	1237	c.903G>A	c.(901-903)atG>atA	p.M301I	NUCB1_ENST00000485798.1_Intron|NUCB1_ENST00000407032.1_Missense_Mutation_p.M301I|NUCB1_ENST00000263273.5_Missense_Mutation_p.M301I	NM_006184.5	NP_006175.2	Q02818	NUCB1_HUMAN	nucleobindin 1	301	Binds to GNAI2 and GNAI3 (By similarity).|EF-hand 2.					ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|membrane|microtubule cytoskeleton	calcium ion binding|DNA binding			cervix(1)|endometrium(4)|large_intestine(4)|lung(8)	17		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)		AGCATGTGATGAAGAATGTGA	0.622000													5	15					0	0	1	0	0
ARHGEF11	9826	broad.mit.edu	37	1	156933341	156933341	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr1:156933341C>G	ENST00000368194.3	-	12	2048	c.1009G>C	c.(1009-1011)Gac>Cac	p.D337H	ARHGEF11_ENST00000361409.2_Missense_Mutation_p.D297H	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	297	RGSL.				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GGGTCATAGTCTTCCTCTGGG	0.428000													11	72					0	0	1	0	0
SP7	121340	broad.mit.edu	37	12	53722239	53722239	+	Silent	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr12:53722239G>C	ENST00000536324.2	-	3	1270	c.987C>G	c.(985-987)ctC>ctG	p.L329L	SP7_ENST00000537210.2_Silent_p.L311L|SP7_ENST00000303846.3_Silent_p.L329L	NM_001173467.1	NP_001166938.1	Q8TDD2	SP7_HUMAN	Sp7 transcription factor	329					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	14						TGCCGCAGAAGAGCCAGTTGC	0.617000													14	36					0	0	1	0	0
VRTN	55237	broad.mit.edu	37	14	74825508	74825508	+	Silent	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr14:74825508C>T	ENST00000256362.4	+	2	2263	c.2022C>T	c.(2020-2022)ttC>ttT	p.F674F		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	674					transposition, DNA-mediated		DNA binding|transposase activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						ACAAGGAGTTCAGTGCCCTCT	0.557000													17	48					0	0	1	0	0
EDA	1896	broad.mit.edu	37	X	69253326	69253326	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chrX:69253326G>C	ENST00000374552.4	+	7	1114	c.872G>C	c.(871-873)gGg>gCg	p.G291A	EDA_ENST00000524573.1_Missense_Mutation_p.G288A|EDA_ENST00000374553.2_Missense_Mutation_p.G291A	NM_001399.4	NP_001390.1	Q92838	EDA_HUMAN	ectodysplasin A	291			G -> R (in ED1).|G -> W (in ED1).		cell differentiation|ectoderm development|immune response|positive regulation of NF-kappaB transcription factor activity|signal transduction	collagen|cytoskeleton|membrane fraction	tumor necrosis factor receptor binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1)	14						CCCCGCAGCGGGGAGCTGGAG	0.498000											OREG0019847	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	22					0	0	1	0	0
BCL9	607	broad.mit.edu	37	1	147096275	147096275	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr1:147096275C>T	ENST00000234739.3	+	10	4536	c.3796C>T	c.(3796-3798)Cct>Tct	p.P1266S		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	1266	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					GCCCCAGGGTCCTGGACCTGG	0.562000			T	"""IGH@, IGL@"""	B-ALL								6	28					0	0	1	0	0
TNFRSF10C	8794	broad.mit.edu	37	8	22972214	22972214	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr8:22972214G>A	ENST00000356864.3	+	3	743	c.211G>A	c.(211-213)Gag>Aag	p.E71K	TNFRSF10C_ENST00000520607.1_3'UTR|TNFRSF10C_ENST00000540813.1_5'UTR	NM_003841.3	NP_003832	O14798	TR10C_HUMAN	tumor necrosis factor receptor superfamily, member 10c, decoy without an intracellular domain	71					apoptosis	anchored to membrane|integral to plasma membrane	TRAIL binding|transmembrane receptor activity			endometrium(1)|large_intestine(6)|lung(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		CCCGTGCACAGAGGGTGTGGA	0.473000													16	37					0	0	1	0	0
TLR3	7098	broad.mit.edu	37	4	187005261	187005261	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr4:187005261C>G	ENST00000296795.3	+	4	2525	c.2421C>G	c.(2419-2421)atC>atG	p.I807M	TLR3_ENST00000504367.1_Missense_Mutation_p.I530M	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3		TIR.				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		TTAACAGCATCAAAAGAAGCA	0.333000													18	39					0	0	1	0	0
HRH1	3269	broad.mit.edu	37	3	11301018	11301018	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr3:11301018C>G	ENST00000397056.1	+	3	486	c.295C>G	c.(295-297)Ctc>Gtc	p.L99V	HRH1_ENST00000431010.2_Missense_Mutation_p.L99V|HRH1_ENST00000438284.2_Missense_Mutation_p.L99V	NM_000861.3|NM_001098211.1	NP_000852.1|NP_001091681.1	P35367	HRH1_HUMAN	histamine receptor H1	99					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	GGGCCGTCCTCTCTGCCTCTT	0.562000													8	142					0	0	1	0	0
SMC4	10051	broad.mit.edu	37	3	160143888	160143888	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr3:160143888G>C	ENST00000357388.3	+	17	2956	c.2505G>C	c.(2503-2505)ttG>ttC	p.L835F	RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000462787.1_Missense_Mutation_p.L835F|SMC4_ENST00000344722.5_Missense_Mutation_p.L835F|SMC4_ENST00000469762.1_Missense_Mutation_p.L810F|SMC4_ENST00000360111.2_Missense_Mutation_p.L835F	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	835					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			AAGAATATTTGAATGTCCAAG	0.308000													13	186					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49445386	49445386	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr12:49445386C>T	ENST00000301067.7	-	10	2079	c.2080G>A	c.(2080-2082)Gag>Aag	p.E694K		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		GGGGAGTCCTCAGGTGGTGGG	0.662000													10	41					0	0	1	0	0
ERBB2	2064	broad.mit.edu	37	17	37884151	37884151	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr17:37884151C>T	ENST00000406381.2	+	29	4042	c.3532C>T	c.(3532-3534)Cac>Tac	p.H1178Y	ERBB2_ENST00000269571.5_Missense_Mutation_p.H1208Y|ERBB2_ENST00000541774.1_Missense_Mutation_p.H1193Y|ERBB2_ENST00000445658.2_Missense_Mutation_p.H932Y|ERBB2_ENST00000584601.1_Missense_Mutation_p.H1178Y|ERBB2_ENST00000584450.1_3'UTR|ERBB2_ENST00000540147.1_Missense_Mutation_p.H1178Y	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	1208					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	CCCTCAGCCCCACCCTCCTCC	0.627000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			5	34					0	0	1	0	0
PAK2	5062	broad.mit.edu	37	3	196509551	196509551	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr3:196509551C>G	ENST00000327134.3	+	2	356	c.34C>G	c.(34-36)Cca>Gca	p.P12A		NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2	12					axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane	ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		AGATAAGCCTCCAGCACCTCC	0.423000													13	176					0	0	1	0	0
PIFO	128344	broad.mit.edu	37	1	111889669	111889669	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr1:111889669G>A	ENST00000369738.4	+	2	522	c.157G>A	c.(157-159)Gat>Aat	p.D53N	PIFO_ENST00000369737.4_Missense_Mutation_p.D53N|PIFO_ENST00000484512.1_3'UTR	NM_181643.4	NP_857594.2			primary cilia formation																		TTATTTTTCAGATGTGAGTAT	0.463000													8	32					0	0	1	0	0
MED23	9439	broad.mit.edu	37	6	131926586	131926586	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr6:131926586C>T	ENST00000403834.3	-	14	1598	c.1425G>A	c.(1423-1425)atG>atA	p.M475I	MED23_ENST00000540546.1_Missense_Mutation_p.M475I|MED23_ENST00000368068.3_Missense_Mutation_p.M469I|MED23_ENST00000368058.1_Missense_Mutation_p.M475I|MED23_ENST00000368053.4_Missense_Mutation_p.M475I|MED23_ENST00000354577.4_Missense_Mutation_p.M475I|MED23_ENST00000368060.3_Missense_Mutation_p.M469I|MED23_ENST00000539158.1_Intron|MED23_ENST00000545957.1_Missense_Mutation_p.M110I			Q9ULK4	MED23_HUMAN	mediator complex subunit 23	469					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)		TATAGTCATTCATCTGTAAAC	0.303000													4	23					0	0	1	0	0
RBM12B	389677	broad.mit.edu	37	8	94748436	94748436	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr8:94748436G>A	ENST00000399300.2	-	3	416	c.203C>T	c.(202-204)tCt>tTt	p.S68F	RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Missense_Mutation_p.S68F	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	68							nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			GAGCTCTACAGATGAATCCTT	0.423000													18	89					0	0	1	0	0
TBRG4	9238	broad.mit.edu	37	7	45145091	45145091	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr7:45145091C>T	ENST00000258770.3	-	3	805	c.684G>A	c.(682-684)atG>atA	p.M228I	TBRG4_ENST00000361278.3_Missense_Mutation_p.M228I|TBRG4_ENST00000395655.4_Missense_Mutation_p.M228I|TBRG4_ENST00000494076.1_Missense_Mutation_p.M228I	NM_004749.3	NP_004740.2	Q969Z0	TBRG4_HUMAN	transforming growth factor beta regulator 4	228					apoptosis|cell cycle arrest|cellular respiration|G1 phase of mitotic cell cycle|positive regulation of cell proliferation	mitochondrion	ATP binding|protein binding|protein kinase activity			cervix(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(2)	17						CCACCTTCATCATGACGGTCA	0.572000													20	93					0	0	1	0	0
ECI2	10455	broad.mit.edu	37	6	4126371	4126371	+	Silent	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr6:4126371C>T	ENST00000465828.1	-	6	867	c.582G>A	c.(580-582)ctG>ctA	p.L194L	ECI2_ENST00000413766.2_Silent_p.L57L|ECI2_ENST00000380118.3_Silent_p.L224L|ECI2_ENST00000361538.2_Silent_p.L194L|C6orf201_ENST00000333388.5_Intron|C6orf201_ENST00000380175.4_Intron|ECI2_ENST00000380125.2_Silent_p.L194L			O75521	ECI2_HUMAN	enoyl-CoA delta isomerase 2	224	ECH-like.				fatty acid metabolic process	mitochondrion|peroxisomal matrix	dodecenoyl-CoA delta-isomerase activity|fatty-acyl-CoA binding			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	11						ACTCTTACCTCAGTAAAACGG	0.418000													6	23					0	0	1	0	0
PNP	4860	broad.mit.edu	37	14	20943019	20943019	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr14:20943019G>C	ENST00000361505.5	+	4	519	c.373G>C	c.(373-375)Gag>Cag	p.E125Q	RP11-203M5.8_ENST00000554678.1_lincRNA	NM_000270.3	NP_000261.2	P00491	PNPH_HUMAN	purine nucleoside phosphorylase	125					immune response|inosine catabolic process|interleukin-2 secretion|NAD biosynthesis via nicotinamide riboside salvage pathway|nicotinamide riboside catabolic process|positive regulation of alpha-beta T cell differentiation|positive regulation of T cell proliferation|purine base metabolic process|purine nucleotide catabolic process|purine-containing compound salvage|response to drug|urate biosynthetic process	cytoskeleton|cytosol	drug binding|nucleoside binding|phosphate binding|purine base binding|purine-nucleoside phosphorylase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|stomach(2)	10					Aciclovir(DB00787)|Cladribine(DB00242)|Mercaptopurine(DB01033)	CCCCAAGTTTGAGGTTGGAGA	0.502000													11	25					0	0	1	0	0
NUP188	23511	broad.mit.edu	37	9	131767807	131767807	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr9:131767807C>G	ENST00000372577.2	+	40	4756	c.4735C>G	c.(4735-4737)Cag>Gag	p.Q1579E		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1579					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						TCTGCTGGATCAGGTACTGCC	0.577000													9	88					0	0	1	0	0
MSH4	4438	broad.mit.edu	37	1	76262775	76262775	+	Silent	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr1:76262775C>G	ENST00000263187.3	+	1	209	c.105C>G	c.(103-105)ctC>ctG	p.L35L		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	35					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						ATTTCGGACTCCAGGAGACTC	0.647000								Mismatch excision repair (MMR)					6	15					0	0	1	0	0
GLB1L	79411	broad.mit.edu	37	2	220107897	220107897	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr2:220107897C>T	ENST00000295759.7	-	3	525	c.212G>A	c.(211-213)cGa>cAa	p.R71Q	GLB1L_ENST00000356283.3_Missense_Mutation_p.R71Q|GLB1L_ENST00000392089.2_Missense_Mutation_p.R71Q|GLB1L_ENST00000409640.1_Missense_Mutation_p.R71Q			Q6UWU2	GLB1L_HUMAN	galactosidase, beta 1-like	71					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCCGCTCCATCGCATCTTCAA	0.582000													18	33					0	0	1	0	0
MYT1L	23040	broad.mit.edu	37	2	1891341	1891341	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr2:1891341C>G	ENST00000399161.2	-	17	3308	c.2561G>C	c.(2560-2562)aGa>aCa	p.R854T	MYT1L_ENST00000428368.2_Missense_Mutation_p.R852T	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	854					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GGGATACCGTCTTTCTTCTAG	0.527000													5	71					0	0	1	0	0
FKBP15	23307	broad.mit.edu	37	9	115931946	115931946	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr9:115931946C>G	ENST00000238256.3	-	26	3160	c.3043G>C	c.(3043-3045)Gag>Cag	p.E1015Q		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	1015					endocytosis|protein folding	axon|early endosome	actin binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						GAGAGTGCCTCAGCTTCTGAG	0.577000													4	20					0	0	1	0	0
NRDE2	55051	broad.mit.edu	37	14	90770438	90770438	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr14:90770438C>T	ENST00000354366.3	-	5	1078	c.846G>A	c.(844-846)tgG>tgA	p.W282*	NRDE2_ENST00000357904.3_Nonsense_Mutation_p.W51*	NM_017970.3	NP_060440.2			NRDE-2, necessary for RNA interference, domain containing																		GTCCTTGTAGCCAATGTGTGG	0.522000													17	53					0	0	1	0	0
TATDN2	9797	broad.mit.edu	37	3	10290962	10290962	+	Silent	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr3:10290962C>G	ENST00000287652.4	+	2	1129	c.78C>G	c.(76-78)ctC>ctG	p.L26L	TATDN2_ENST00000448281.2_Silent_p.L26L	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	26						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						GCAGCTGCCTCCGGGAGCCCT	0.687000													19	44					0	0	1	0	0
COL1A2	1278	broad.mit.edu	37	7	94059612	94059612	+	Silent	SNP	A	A	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr7:94059612A>G	ENST00000297268.6	+	52	4479	c.4008A>G	c.(4006-4008)ccA>ccG	p.P1336P		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	1336	Fibrillar collagen NC1.				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CAAATAAGCCATCACGCCTGC	0.383000										HNSCC(75;0.22)			27	84					0	0	1	0	0
CA10	56934	broad.mit.edu	37	17	49825136	49825136	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr17:49825136G>A	ENST00000451037.2	-	4	1262	c.322C>T	c.(322-324)Cgc>Tgc	p.R108C	CA10_ENST00000285273.4_Missense_Mutation_p.R108C|CA10_ENST00000442502.2_Missense_Mutation_p.R108C|CA10_ENST00000570565.1_Missense_Mutation_p.R33C|CA10_ENST00000340813.6_Missense_Mutation_p.R114C|CA10_ENST00000571918.1_5'UTR	NM_020178.4	NP_064563.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	108					brain development					cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			TTGTCCAGGCGAAGGGATACG	0.542000													16	62					0	0	1	0	0
PIGW	284098	broad.mit.edu	37	17	34893934	34893934	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr17:34893934G>C	ENST00000592983.1	+	2	1564	c.984G>C	c.(982-984)aaG>aaC	p.K328N	MYO19_ENST00000590081.1_Intron|PIGW_ENST00000328396.2_Missense_Mutation_p.K328N			Q7Z7B1	PIGW_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class W	328					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	O-acyltransferase activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ATATGCATAAGAACCGATCAC	0.403000													11	60					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27087386	27087386	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr1:27087386G>A	ENST00000324856.7	+	5	2331	c.1960G>A	c.(1960-1962)Gaa>Aaa	p.E654K	ARID1A_ENST00000374152.2_Missense_Mutation_p.E271K|ARID1A_ENST00000457599.2_Missense_Mutation_p.E654K	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	654					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CATGGGGACAGAAGGAGCTCT	0.448000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								8	32					0	0	1	0	0
NOVA2	4858	broad.mit.edu	37	19	46443157	46443157	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr19:46443157C>G	ENST00000263257.5	-	4	1637	c.1443G>C	c.(1441-1443)caG>caC	p.Q481H		NM_002516.2	NP_002507.1	Q9UNW9	NOVA2_HUMAN	neuro-oncological ventral antigen 2	481						nucleus	RNA binding			endometrium(3)|large_intestine(5)|lung(13)	21		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)		CCCTCACTCCCTGCTCGTAGG	0.642000													9	23					0	0	1	0	0
OSBPL11	114885	broad.mit.edu	37	3	125257297	125257297	+	Silent	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr3:125257297G>A	ENST00000296220.5	-	11	2311	c.2022C>T	c.(2020-2022)tcC>tcT	p.S674S		NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN	oxysterol binding protein-like 11	674					lipid transport		lipid binding			NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						TGACATACCTGGATTCAAATG	0.433000													14	97					0	0	1	0	0
EXO1	9156	broad.mit.edu	37	1	242023908	242023908	+	Silent	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr1:242023908C>T	ENST00000366548.3	+	9	1439	c.846C>T	c.(844-846)ttC>ttT	p.F282F	EXO1_ENST00000518483.1_Silent_p.F282F|EXO1_ENST00000348581.5_Silent_p.F282F	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	282	Interaction with MSH3.				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			ACAATACCTTCCTCTATCAGC	0.403000								Editing and processing nucleases					14	63					0	0	1	0	0
CTC-260E6.6	0	broad.mit.edu	37	19	20369933	20369933	+	RNA	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr19:20369933C>G	ENST00000593655.1	-	0	199																											GATCTGAATTCTACAAACACA	0.398000													7	28					0	0	1	0	0
NLRP10	338322	broad.mit.edu	37	11	7981506	7981506	+	Missense_Mutation	SNP	C	C	G	rs144039243		TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr11:7981506C>G	ENST00000328600.2	-	2	1814	c.1653G>C	c.(1651-1653)caG>caC	p.Q551H		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	551							ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TAGATTCCATCTGTTCTTTAA	0.393000													13	45					0	0	1	0	0
HIST1H1C	3006	broad.mit.edu	37	6	26056283	26056283	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr6:26056283C>T	ENST00000343677.2	-	1	416	c.374G>A	c.(373-375)gGa>gAa	p.G125E		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	125					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						AGGTTTGGTTCCGCCCGCCTT	0.562000													15	73					0	0	1	0	0
RIF1	55183	broad.mit.edu	37	2	152320447	152320447	+	Missense_Mutation	SNP	A	A	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr2:152320447A>C	ENST00000243326.5	+	29	4896	c.4413A>C	c.(4411-4413)gaA>gaC	p.E1471D	RIF1_ENST00000444746.2_Missense_Mutation_p.E1471D|RIF1_ENST00000430328.2_Missense_Mutation_p.E1471D|RIF1_ENST00000428287.2_Missense_Mutation_p.E1471D|RIF1_ENST00000453091.2_Missense_Mutation_p.E1471D			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)						cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TGATTGCTGAACAAACTCTAC	0.328000													10	33					0	0	1	0	0
PKD2L1	9033	broad.mit.edu	37	10	102055962	102055962	+	Missense_Mutation	SNP	A	A	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr10:102055962A>C	ENST00000318222.3	-	7	1655	c.1273T>G	c.(1273-1275)Tat>Gat	p.Y425D	PKD2L1_ENST00000338519.3_Missense_Mutation_p.Y350D|PKD2L1_ENST00000353274.3_Missense_Mutation_p.Y425D	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	425					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		AAGTCTGCATACGTGTTTGGC	0.537000													4	40					0	0	1	0	0
LRCH1	23143	broad.mit.edu	37	13	47255931	47255931	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr13:47255931C>T	ENST00000311191.6	+	4	864	c.635C>T	c.(634-636)tCt>tTt	p.S212F	LRCH1_ENST00000389798.3_Missense_Mutation_p.S212F|LRCH1_ENST00000389797.3_Missense_Mutation_p.S212F	NM_001164213.1	NP_001157685	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	212										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		CAGTTGAAATCTCTACGAGAA	0.378000													6	24					0	0	1	0	0
MRPL39	54148	broad.mit.edu	37	21	26966216	26966216	+	Silent	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr21:26966216G>C	ENST00000307301.7	-	7	797	c.756C>G	c.(754-756)gtC>gtG	p.V252V	MRPL39_ENST00000352957.4_Silent_p.V252V	NM_080794.3	NP_542984	Q9NYK5	RM39_HUMAN	mitochondrial ribosomal protein L39	252						mitochondrial ribosome	nucleotide binding			endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	10						TGTGTAGCTTGACTATTCTCT	0.333000													6	24					0	0	1	0	0
MARCH7	64844	broad.mit.edu	37	2	160585619	160585619	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr2:160585619G>A	ENST00000259050.4	+	2	208	c.86G>A	c.(85-87)aGa>aAa	p.R29K	MARCH7_ENST00000409175.1_Missense_Mutation_p.R29K|MARCH7_ENST00000473749.1_3'UTR|MARCH7_ENST00000539065.1_Missense_Mutation_p.R29K	NM_001282805.1|NM_001282807.1|NM_022826.2	NP_001269734.1|NP_001269736.1|NP_073737.1	Q9H992	MARH7_HUMAN	membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase		Ser-rich.						ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						TCTGGAAGCAGAGGAAGTAGT	0.348000													5	34					0	0	1	0	0
ZNF639	51193	broad.mit.edu	37	3	179051361	179051361	+	Silent	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr3:179051361C>G	ENST00000326361.3	+	7	1054	c.609C>G	c.(607-609)ctC>ctG	p.L203L	ZNF639_ENST00000466663.1_3'UTR|ZNF639_ENST00000484866.1_Silent_p.L203L|ZNF639_ENST00000496856.1_Silent_p.L203L	NM_016331.1	NP_057415.1	Q9UID6	ZN639_HUMAN	zinc finger protein 639	203					initiation of viral infection|negative regulation by host of viral transcription|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of cell growth|positive regulation of transcription, DNA-dependent	nucleus	protein self-association|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(10)|urinary_tract(1)	16	all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			GCAGTGGCCTCTATAAATGTG	0.393000													13	80					0	0	1	0	0
CPSF1	29894	broad.mit.edu	37	8	145625784	145625784	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr8:145625784C>G	ENST00000349769.3	-	8	884	c.790G>C	c.(790-792)Gac>Cac	p.D264H		NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	264					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			TGGGTGCAGTCAAAGGGCAGG	0.627000													12	21					0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30704321	30704321	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr8:30704321C>A	ENST00000256246.2	-	1	2287	c.2213G>T	c.(2212-2214)gGa>gTa	p.G738V		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	738										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		ATTCTCCCTTCCTGTGGTGCT	0.393000													13	65					5.50884e-06	5.67886e-06	1	1	0
CYP26B1	56603	broad.mit.edu	37	2	72360154	72360154	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr2:72360154C>G	ENST00000001146.2	-	5	1347	c.1144G>C	c.(1144-1146)Gat>Cat	p.D382H	CYP26B1_ENST00000412253.1_Missense_Mutation_p.D191H|CYP26B1_ENST00000546307.1_Missense_Mutation_p.D307H	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	382					cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						AGCCTCACATCAAGCTCGAAG	0.667000													3	24					0	0	1	0	0
ZNF724P	440519	broad.mit.edu	37	19	23405204	23405204	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr19:23405204C>T	ENST00000418100.1	-	4	1960	c.1843G>A	c.(1843-1845)Gaa>Aaa	p.E615K																	endometrium(3)|kidney(1)|lung(2)|ovary(2)	8						TCAGATTTTTCTACAGCATGA	0.428000													3	17					0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91726008	91726008	+	Silent	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr7:91726008G>A	ENST00000359028.2	+	41	9972	c.9747G>A	c.(9745-9747)ctG>ctA	p.L3249L	AKAP9_ENST00000356239.3_Silent_p.L3245L|AKAP9_ENST00000358100.2_Silent_p.L3195L			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3249					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ACCAGGATCTGAAGTTTTCAC	0.383000			T	BRAF	papillary thyroid								6	36					0	0	1	0	0
DIMT1	27292	broad.mit.edu	37	5	61694367	61694367	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr5:61694367G>C	ENST00000199320.4	-	6	577	c.417C>G	c.(415-417)ttC>ttG	p.F139L	KIF2A_ENST00000509663.2_Intron|DIMT1_ENST00000506390.1_Missense_Mutation_p.F139L	NM_014473.2	NP_055288.1	Q9UNQ2	DIMT1_HUMAN	DIM1 dimethyladenosine transferase 1 homolog (S. cerevisiae)	139						nucleolus	RNA binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity										GCAACAGCTTGAAGACAAAAG	0.383000													23	98					0	0	1	0	0
HIST1H2BK	85236	broad.mit.edu	37	6	27114509	27114509	+	Silent	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr6:27114509C>T	ENST00000396891.4	-	1	110	c.69G>A	c.(67-69)caG>caA	p.Q23Q	HIST1H2BK_ENST00000356950.1_Silent_p.Q23Q	NM_080593.2	NP_542160.1	O60814	H2B1K_HUMAN	histone cluster 1, H2bk	23					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						CGTCCTTCTTCTGCGCCTTAG	0.602000													15	136					0	0	1	0	0
C1orf21	81563	broad.mit.edu	37	1	184446658	184446658	+	Silent	SNP	C	C	T	rs148612527		TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr1:184446658C>T	ENST00000235307.6	+	2	450	c.15C>T	c.(13-15)tcC>tcT	p.S5S		NM_030806.3	NP_110433.1	Q9H246	CA021_HUMAN	chromosome 1 open reading frame 21	5										breast(1)|lung(1)	2		Breast(1374;0.00262)		Colorectal(1306;4.8e-08)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)		GCTGTGCCTCCGCCAAGCATG	0.463000													6	45					0	0	1	0	0
ZNF112	7665	broad.mit.edu	37	19	44832328	44832328	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr19:44832328C>G	ENST00000354340.4	-	4	2033	c.1982G>C	c.(1981-1983)tGt>tCt	p.C661S	ZNF112_ENST00000536500.1_Missense_Mutation_p.C684S|ZNF112_ENST00000337401.4_Missense_Mutation_p.C667S	NM_013380.3	NP_037512.3			zinc finger protein 112																		ACATTCTTCACATTTATAGGG	0.443000													6	76					0	0	1	0	0
ACTN4	81	broad.mit.edu	37	19	39216366	39216366	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr19:39216366G>T	ENST00000252699.2	+	17	2089	c.2013G>T	c.(2011-2013)gaG>gaT	p.E671D	ACTN4_ENST00000390009.3_Missense_Mutation_p.E452D|ACTN4_ENST00000424234.2_Missense_Mutation_p.E281D	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	actinin, alpha 4	671					platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis	extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex	actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CCCCGTAGGAGATCGGGCGCA	0.652000													3	17					0.004672	0.00472386	1	1	0
CX3CR1	1524	broad.mit.edu	37	3	39306963	39306963	+	Silent	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr3:39306963C>T	ENST00000541347.1	-	2	1277	c.1038G>A	c.(1036-1038)acG>acA	p.T346T	CX3CR1_ENST00000358309.3_Silent_p.T378T|CX3CR1_ENST00000542107.1_Silent_p.T346T|CX3CR1_ENST00000399220.2_Silent_p.T346T	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	346					cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		CTCCATCACTCGTGTGGTAAG	0.488000													34	78					0	0	1	0	0
CUL1	8454	broad.mit.edu	37	7	148457438	148457438	+	Silent	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr7:148457438G>C	ENST00000325222.4	+	7	918	c.639G>C	c.(637-639)ctG>ctC	p.L213L	CUL1_ENST00000409469.1_Silent_p.L213L|CUL1_ENST00000602748.1_Silent_p.L213L	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	213					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			AATTGGGGCTGAATGAAGATG	0.338000													9	77					0	0	1	0	0
RNF111	54778	broad.mit.edu	37	15	59368241	59368241	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr15:59368241G>A	ENST00000348370.4	+	7	2208	c.1775G>A	c.(1774-1776)tGc>tAc	p.C592Y	RNF111_ENST00000559209.1_Missense_Mutation_p.C592Y|RNF111_ENST00000561186.1_Missense_Mutation_p.C592Y|RNF111_ENST00000434298.1_Missense_Mutation_p.C592Y|RNF111_ENST00000557998.1_Missense_Mutation_p.C592Y	NM_001270528.1|NM_001270529.1|NM_017610.7	NP_001257457.1|NP_001257458.1|NP_060080.6	Q6ZNA4	RN111_HUMAN	ring finger protein 111	592					multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		GACCCCTGCTGCCCTGTTTCT	0.502000													16	57					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170175357	170175357	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr2:170175357C>A	ENST00000263816.3	-	3	510	c.225G>T	c.(223-225)caG>caT	p.Q75H	LRP2_ENST00000443831.1_Missense_Mutation_p.Q75H	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	75	LDL-receptor class A 2.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GTCCCTCACTCTGGCACTTGA	0.463000													5	31					1.23904e-05	1.27205e-05	1	1	0
TNXB	7148	broad.mit.edu	37	6	32050000	32050000	+	Silent	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr6:32050000C>T	ENST00000375244.3	-	9	3750	c.3549G>A	c.(3547-3549)gaG>gaA	p.E1183E	TNXB_ENST00000375247.2_Silent_p.E1183E			P22105	TENX_HUMAN	tenascin XB	1270	Fibronectin type-III 4.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CAAACTGGCCCTCAGGGACAG	0.597000													7	17					0	0	1	0	0
NEIL3	55247	broad.mit.edu	37	4	178274579	178274579	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr4:178274579G>A	ENST00000264596.3	+	8	1275	c.1157G>A	c.(1156-1158)gGa>gAa	p.G386E	RP11-376O6.2_ENST00000506895.1_RNA	NM_018248.2	NP_060718	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3 (E. coli)	386					base-excision repair|nucleotide-excision repair	nucleus	bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		ACTGCATTTGGAACTACAACT	0.343000								Base excision repair (BER), DNA glycosylases					7	24					0	0	1	0	0
RP11-783K16.10	0	broad.mit.edu	37	11	64067776	64067776	+	RNA	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr11:64067776C>G	ENST00000539086.1	+	0	1901																											GGAGGGCTGTCGTTTGAACTC	0.667000													3	7					0	0	1	0	0
RASSF8	11228	broad.mit.edu	37	12	26217839	26217839	+	Missense_Mutation	SNP	G	G	A	rs78627144		TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr12:26217839G>A	ENST00000405154.2	+	3	711	c.512G>A	c.(511-513)cGt>cAt	p.R171H	RASSF8_ENST00000282884.9_Missense_Mutation_p.R171H|RASSF8_ENST00000542865.1_Missense_Mutation_p.R171H|RASSF8_ENST00000381352.3_Missense_Mutation_p.R171H|RASSF8_ENST00000541490.1_Missense_Mutation_p.R171H	NM_001164748.1	NP_001158220.1	Q8NHQ8	RASF8_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 8	171					signal transduction					cervix(2)|endometrium(1)|large_intestine(6)|lung(15)|urinary_tract(1)	25	Colorectal(261;0.0847)					AAGCTAATCCGTCTGCAGACA	0.363000													10	30					0	0	1	0	0
DLG4	1742	broad.mit.edu	37	17	7096379	7096379	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr17:7096379G>A	ENST00000399510.2	-	19	2732	c.1880C>T	c.(1879-1881)tCg>tTg	p.S627L	DLG4_ENST00000302955.6_Missense_Mutation_p.S581L|DLG4_ENST00000399506.2_Missense_Mutation_p.S584L	NM_001365.3	NP_001356.1	P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)	584	Guanylate kinase-like.				axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein binding|protein C-terminus binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18						CTCCCGGGACGACACAAAGTG	0.567000													11	60					0	0	1	0	0
GRM6	2916	broad.mit.edu	37	5	178413735	178413735	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr5:178413735G>C	ENST00000231188.5	-	8	1698	c.1520C>G	c.(1519-1521)tCt>tGt	p.S507C	GRM6_ENST00000517717.1_Missense_Mutation_p.S507C|RP11-281O15.4_ENST00000519491.1_RNA	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	507					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		GGGGTCGCCAGACCACTGCAG	0.692000													3	20					0	0	1	0	0
USP32	84669	broad.mit.edu	37	17	58289433	58289433	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr17:58289433C>A	ENST00000300896.4	-	19	2325	c.2131G>T	c.(2131-2133)Gag>Tag	p.E711*	USP32_ENST00000592339.1_Nonsense_Mutation_p.E381*	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	711					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			GACATCTCCTCAGGCCAACTC	0.289000													8	55					1.12685e-05	1.16044e-05	1	1	0
ERCC6	2074	broad.mit.edu	37	10	50666943	50666943	+	Missense_Mutation	SNP	C	C	T	rs145554525		TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr10:50666943C>T	ENST00000355832.5	-	21	4478	c.4400G>A	c.(4399-4401)cGa>cAa	p.R1467Q	RP11-123B3.2_ENST00000423283.1_RNA|ERCC6_ENST00000542458.1_Missense_Mutation_p.R837Q	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6	1467					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CAATAGTTCTCGGAAGACACA	0.453000								Direct reversal of damage;Nucleotide excision repair (NER)					18	66					0	0	1	0	0
ACSL6	23305	broad.mit.edu	37	5	131323819	131323819	+	Silent	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr5:131323819G>A	ENST00000379264.2	-	7	861	c.753C>T	c.(751-753)ctC>ctT	p.L251L	ACSL6_ENST00000379246.1_Silent_p.L237L|ACSL6_ENST00000431707.1_Silent_p.L206L|ACSL6_ENST00000543479.1_Silent_p.L226L|ACSL6_ENST00000379244.1_Silent_p.L226L|ACSL6_ENST00000357096.1_Silent_p.L191L|ACSL6_ENST00000379240.1_Silent_p.L226L|ACSL6_ENST00000379255.1_Silent_p.L191L|ACSL6_ENST00000296869.4_Silent_p.L251L|ACSL6_ENST00000379249.3_Silent_p.L226L|ACSL6_ENST00000544770.1_Silent_p.L135L|ACSL6_ENST00000379272.2_Silent_p.L241L	NM_001009185.2	NP_001009185.1	Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	226					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATGGGTCCATGAGGATGATCA	0.567000													33	127					0	0	1	0	0
CEP63	80254	broad.mit.edu	37	3	134278167	134278167	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr3:134278167C>G	ENST00000337090.3	+	14	2022	c.1849C>G	c.(1849-1851)Cta>Gta	p.L617V	CEP63_ENST00000354446.3_Intron|CEP63_ENST00000606977.1_Missense_Mutation_p.L617V|CEP63_ENST00000383229.3_Intron|CEP63_ENST00000332047.5_Intron|CEP63_ENST00000513612.2_Missense_Mutation_p.L617V			Q96MT8	CEP63_HUMAN	centrosomal protein 63kDa	617					cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding			kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						TTCCTACTCTCTATGTAAAAC	0.438000													6	106					0	0	1	0	0
TSPAN15	23555	broad.mit.edu	37	10	71243521	71243521	+	Silent	SNP	T	T	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr10:71243521T>C	ENST00000373290.2	+	2	293	c.171T>C	c.(169-171)agT>agC	p.S57S		NM_012339.3	NP_036471.1	O95858	TSN15_HUMAN	tetraspanin 15	57						integral to plasma membrane|membrane fraction				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	9						CCCTTGAAAGTGCCTTCCTGG	0.547000													7	16					0	0	1	0	0
PALLD	23022	broad.mit.edu	37	4	169819676	169819676	+	Silent	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr4:169819676C>G	ENST00000335742.7	+	14	3115	c.1758C>G	c.(1756-1758)ctC>ctG	p.L586L	PALLD_ENST00000261509.6_Silent_p.L744L|PALLD_ENST00000507735.1_Silent_p.L257L|PALLD_ENST00000512127.1_Silent_p.L362L|PALLD_ENST00000505667.1_Silent_p.L761L|CBR4_ENST00000509108.1_Intron			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	968					cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		AACAGAGACTCATCAGTGAAA	0.448000									Pancreatic Cancer, Familial Clustering of				6	25					0	0	1	0	0
LRIG2	9860	broad.mit.edu	37	1	113657430	113657430	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr1:113657430C>G	ENST00000361127.5	+	15	2660	c.2462C>G	c.(2461-2463)tCt>tGt	p.S821C	LRIG2_ENST00000492207.1_3'UTR	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2							cytoplasm|integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		GTTGGCACTTCTTTGATCTGG	0.428000													12	79					0	0	1	0	0
POLR2L	5441	broad.mit.edu	37	11	840378	840378	+	Silent	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr11:840378C>T	ENST00000322028.4	-	2	234	c.198G>A	c.(196-198)gaG>gaA	p.E66E		NM_021128.4	NP_066951.1	P62875	RPAB5_HUMAN	polymerase (RNA) II (DNA directed) polypeptide L, 7.6kDa	66					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|zinc ion binding			lung(1)	1		all_cancers(49;2.31e-08)|all_epithelial(84;3.72e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.179)|all_lung(207;0.227)		all cancers(45;4.1e-25)|Epithelial(43;3.15e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTGGTCACTTCTCCAGGGGTG	0.642000													24	68					0	0	1	0	0
AJAP1	55966	broad.mit.edu	37	1	4834503	4834503	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr1:4834503C>T	ENST00000378191.4	+	5	1561	c.1180C>T	c.(1180-1182)Cgg>Tgg	p.R394W	AJAP1_ENST00000378190.3_Missense_Mutation_p.R394W	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	394	Targeting signals.				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		CTCTTCTGATCGGCATCTTAT	0.552000													10	42					0	0	1	0	0
BCLAF1	9774	broad.mit.edu	37	6	136596746	136596746	+	Silent	SNP	A	A	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr6:136596746A>T	ENST00000531224.1	-	6	2028	c.1776T>A	c.(1774-1776)atT>atA	p.I592I	BCLAF1_ENST00000392348.2_Silent_p.I590I|BCLAF1_ENST00000527759.1_Silent_p.I590I|BCLAF1_ENST00000353331.4_Silent_p.I590I|BCLAF1_ENST00000530767.1_Silent_p.I419I|BCLAF1_ENST00000527536.1_Silent_p.I592I	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	592					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		GTGGCAACTTAATGTGGTCAA	0.423000													11	109					0	0	1	0	0
LONP1	9361	broad.mit.edu	37	19	5696173	5696173	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr19:5696173G>C	ENST00000360614.3	-	13	2062	c.1905C>G	c.(1903-1905)ttC>ttG	p.F635L	LONP1_ENST00000593119.1_Missense_Mutation_p.F571L|LONP1_ENST00000585374.1_Missense_Mutation_p.F521L|LONP1_ENST00000540670.2_Missense_Mutation_p.F439L|LONP1_ENST00000590729.1_Missense_Mutation_p.F505L	NM_004793.2	NP_004784.2	P36776	LONM_HUMAN	lon peptidase 1, mitochondrial	635					cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CCGTGCAGATGAACAGCACCT	0.667000													9	24					0	0	1	0	0
SSX5	6758	broad.mit.edu	37	X	48054495	48054495	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chrX:48054495C>G	ENST00000311798.1	-	3	192	c.140G>C	c.(139-141)aGa>aCa	p.R47T	SSX5_ENST00000376923.1_Intron|SSX5_ENST00000347757.1_Intron	NM_021015.3	NP_066295.3	O60225	SSX5_HUMAN	synovial sarcoma, X breakpoint 5	23	KRAB-related.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1)	18						GGCTGGCTCTCTTCCCACCTT	0.542000													7	11					0	0	1	0	0
ST6GAL1	6480	broad.mit.edu	37	3	186793465	186793465	+	Silent	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr3:186793465G>A	ENST00000169298.3	+	8	1769	c.1095G>A	c.(1093-1095)acG>acA	p.T365T	ST6GAL1_ENST00000457772.2_Silent_p.T134T|ST6GAL1_ENST00000448044.1_Silent_p.T365T	NM_173216.2	NP_775323.1	P15907	SIAT1_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 1	365					humoral immune response|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)		GTGCCTGCACGATGGGTGCCT	0.512000													11	51					0	0	1	0	0
OIT3	170392	broad.mit.edu	37	10	74658496	74658496	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr10:74658496C>G	ENST00000334011.5	+	2	354	c.136C>G	c.(136-138)Caa>Gaa	p.Q46E		NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN	oncoprotein induced transcript 3	46						nuclear envelope	calcium ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					GGATGAGTCTCAAGGTCCTCC	0.507000													12	38					0	0	1	0	0
IGLV5-45	28781	broad.mit.edu	37	22	22730594	22730594	+	RNA	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr22:22730594C>G	ENST00000390296.2	+	0	117																											TCTTCCCTCTCTGCATCTCCT	0.532000													7	34					0	0	1	0	0
ATXN1	6310	broad.mit.edu	37	6	16306794	16306794	+	Silent	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr6:16306794G>C	ENST00000244769.4	-	9	3150	c.2214C>G	c.(2212-2214)ctC>ctG	p.L738L	ATXN1_ENST00000436367.1_Silent_p.L738L	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	738	Interaction with USP7.|RNA-binding.				cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				CATTCTCAGAGAGCATCTGGG	0.577000													7	36					0	0	1	0	0
ZC3H14	79882	broad.mit.edu	37	14	89041178	89041178	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr14:89041178C>T	ENST00000251038.5	+	7	1228	c.1003C>T	c.(1003-1005)Cct>Tct	p.P335S	ZC3H14_ENST00000359301.3_Missense_Mutation_p.P301S|ZC3H14_ENST00000555755.1_Missense_Mutation_p.P335S|ZC3H14_ENST00000393514.5_Missense_Mutation_p.P335S|ZC3H14_ENST00000556945.1_Missense_Mutation_p.P335S|ZC3H14_ENST00000557605.1_3'UTR|ZC3H14_ENST00000302216.8_Missense_Mutation_p.P335S|ZC3H14_ENST00000336693.4_Missense_Mutation_p.P301S|ZC3H14_ENST00000557607.1_Missense_Mutation_p.P180S	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14	335						cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						TGTGTCTGTGCCTGCAAAGCC	0.403000													7	10					0	0	1	0	0
SERINC3	10955	broad.mit.edu	37	20	43135594	43135594	+	Silent	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr20:43135594G>A	ENST00000342374.4	-	6	814	c.657C>T	c.(655-657)atC>atT	p.I219I	SERINC3_ENST00000541235.1_Silent_p.I164I|SERINC3_ENST00000255175.1_Silent_p.I219I	NM_006811.2	NP_006802.1	Q13530	SERC3_HUMAN	serine incorporator 3	219						integral to membrane|plasma membrane	protein binding			endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			GCCCGACACAGATGATTGACA	0.393000													7	28					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152552568	152552568	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr6:152552568C>G	ENST00000367255.5	-	114	21598	c.20997G>C	c.(20995-20997)atG>atC	p.M6999I	SYNE1_ENST00000448038.1_Missense_Mutation_p.M6928I|SYNE1_ENST00000341594.5_Missense_Mutation_p.M6611I|SYNE1_ENST00000265368.4_Missense_Mutation_p.M6999I|SYNE1_ENST00000356820.4_Missense_Mutation_p.M1523I|SYNE1_ENST00000423061.1_Missense_Mutation_p.M6928I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6999					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AACTTTTATTCATTGCTCCAA	0.443000										HNSCC(10;0.0054)			15	45					0	0	1	0	0
GDPD5	81544	broad.mit.edu	37	11	75160959	75160959	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr11:75160959C>T	ENST00000526177.1	-	3	1909	c.31G>A	c.(31-33)Gag>Aag	p.E11K	GDPD5_ENST00000533805.1_5'UTR|GDPD5_ENST00000529721.1_Missense_Mutation_p.E149K|GDPD5_ENST00000533784.1_Intron|GDPD5_ENST00000376282.3_Intron|GDPD5_ENST00000336898.3_Missense_Mutation_p.E149K|GDPD5_ENST00000443276.2_3'UTR			Q8WTR4	GDPD5_HUMAN	glycerophosphodiester phosphodiesterase domain containing 5	149					glycerol metabolic process|lipid metabolic process|nervous system development	endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm	glycerophosphodiester phosphodiesterase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						ACCTCCCACTCGTCCTCCCAC	0.627000													5	22					0	0	1	0	0
ARFGEF1	10565	broad.mit.edu	37	8	68112622	68112622	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr8:68112622C>T	ENST00000518230.1	-	17	2259	c.1908G>A	c.(1906-1908)atG>atA	p.M636I	ARFGEF1_ENST00000517955.1_Intron|ARFGEF1_ENST00000262215.3_Intron|ARFGEF1_ENST00000520381.1_Intron			Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	0					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TTCGAAGCCTCATACTTACCC	0.463000													7	27					0	0	1	0	0
ZNF224	7767	broad.mit.edu	37	19	44610825	44610825	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr19:44610825C>T	ENST00000336976.6	+	6	766	c.512C>T	c.(511-513)tCa>tTa	p.S171L	AC084219.4_ENST00000592946.1_RNA	NM_013398.2	NP_037530.2	Q9NZL3	ZN224_HUMAN	zinc finger protein 224	171					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19		Prostate(69;0.0435)				CAATTACACTCAGGAGAGAAA	0.403000													19	78					0	0	1	0	0
KIR3DX1	90011	broad.mit.edu	37	19	55046962	55046962	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr19:55046962G>A	ENST00000335056.3	+	4	545	c.507G>A	c.(505-507)atG>atA	p.M169I	KIR3DX1_ENST00000482404.1_3'UTR																endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1)	24				GBM - Glioblastoma multiforme(193;0.099)		ACCAGGGGATGGAGGCTGGGA	0.537000													7	29					0	0	1	0	0
CDK11A	728642	broad.mit.edu	37	1	1650862	1650862	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr1:1650862G>A	ENST00000356200.3	-	3	392	c.158C>T	c.(157-159)cCa>cTa	p.P53L	CDK11A_ENST00000378638.2_Missense_Mutation_p.P53L|CDK11A_ENST00000358779.5_Missense_Mutation_p.P87L|RP1-283E3.8_ENST00000598846.1_RNA|CDK11A_ENST00000378635.3_Missense_Mutation_p.P87L|CDK11A_ENST00000378633.1_Missense_Mutation_p.P87L|CDK11A_ENST00000404249.3_Missense_Mutation_p.P87L|CDK11A_ENST00000357760.2_Missense_Mutation_p.P87L					cyclin-dependent kinase 11A											central_nervous_system(1)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(4)|stomach(1)|urinary_tract(1)	18						TTGCTGGGGTGGTTTGATGGC	0.413000													17	79					0	0	1	0	0
CCDC88A	55704	broad.mit.edu	37	2	55543135	55543135	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr2:55543135C>G	ENST00000436346.1	-	22	4703	c.3862G>C	c.(3862-3864)Gaa>Caa	p.E1288Q	AC012358.8_ENST00000599352.1_RNA|CCDC88A_ENST00000263630.8_Missense_Mutation_p.E1288Q|AC012358.8_ENST00000608103.1_RNA|AC012358.8_ENST00000594078.1_RNA|CCDC88A_ENST00000413716.2_Missense_Mutation_p.E1287Q|CCDC88A_ENST00000336838.6_Missense_Mutation_p.E1287Q|AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000599475.1_RNA	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	1288					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						TTTGAAAATTCAGCTTCTAAT	0.313000													14	66					0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169494094	169494094	+	Silent	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr1:169494094G>A	ENST00000367796.3	-	19	5985	c.5784C>T	c.(5782-5784)atC>atT	p.I1928I	F5_ENST00000367797.3_Silent_p.I1923I			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1923	F5/8 type C 1.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	CTGAAGCCTTGATCTGTGAAT	0.388000													12	51					0	0	1	0	0
RALGPS1	9649	broad.mit.edu	37	9	129815197	129815197	+	Silent	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr9:129815197C>T	ENST00000259351.5	+	7	729	c.462C>T	c.(460-462)ttC>ttT	p.F154F	RALGPS1_ENST00000394022.3_Silent_p.F154F|RALGPS1_ENST00000373436.1_Silent_p.F154F|RALGPS1_ENST00000424082.2_Silent_p.F154F|RALGPS1_ENST00000373434.1_Silent_p.F154F	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	154	Ras-GEF.				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity			kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						CTCCCATCTTCAGGCTGACAA	0.383000													20	69					0	0	1	0	0
JMJD1C	221037	broad.mit.edu	37	10	64949089	64949089	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr10:64949089C>G	ENST00000399262.2	-	18	6627	c.6409G>C	c.(6409-6411)Gaa>Caa	p.E2137Q	JMJD1C_ENST00000402544.1_Missense_Mutation_p.E1900Q|JMJD1C_ENST00000542921.1_Missense_Mutation_p.E1955Q|JMJD1C_ENST00000399251.1_3'UTR	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	2137					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					TCAGGCTCTTCTTTAAGCTCT	0.333000													14	45					0	0	1	0	0
IQCB1	9657	broad.mit.edu	37	3	121489208	121489208	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr3:121489208C>T	ENST00000310864.6	-	15	1995	c.1781G>A	c.(1780-1782)gGa>gAa	p.G594E	IQCB1_ENST00000349820.6_Missense_Mutation_p.G461E	NM_001023570.2	NP_001018864.2	Q15051	IQCB1_HUMAN	IQ motif containing B1	594					cilium assembly|maintenance of organ identity|photoreceptor cell maintenance	centrosome|photoreceptor connecting cilium	calmodulin binding			NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)	30				GBM - Glioblastoma multiforme(114;0.0983)		TGGTTTGGTTCCACCAATGAA	0.408000													5	57					0	0	1	0	0
IKBKB	3551	broad.mit.edu	37	8	42166504	42166504	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr8:42166504G>A	ENST00000520810.1	+	8	839	c.653G>A	c.(652-654)gGc>gAc	p.G218D	IKBKB_ENST00000519735.1_Missense_Mutation_p.G218D|IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000520835.1_Missense_Mutation_p.G216D|IKBKB_ENST00000379708.3_Intron|IKBKB_ENST00000416505.2_Missense_Mutation_p.G159D	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	218	Protein kinase.				anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)	TGCATCACGGGCTTCCGGCCC	0.627000													4	87					0	0	1	0	0
TSPAN9	10867	broad.mit.edu	37	12	3389631	3389631	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr12:3389631G>C	ENST00000011898.5	+	6	575	c.414G>C	c.(412-414)tgG>tgC	p.W138C	TSPAN9_ENST00000407263.1_Missense_Mutation_p.W138C|TSPAN9_ENST00000492305.1_3'UTR|TSPAN9_ENST00000537971.1_Missense_Mutation_p.W138C	NM_006675.4	NP_006666.1	O75954	TSN9_HUMAN	tetraspanin 9	138						integral to plasma membrane|membrane fraction				endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00153)|COAD - Colon adenocarcinoma(12;0.0831)			AGAACGCCTGGAACATCATCC	0.657000													3	13					0	0	1	0	0
SNRK	54861	broad.mit.edu	37	3	43381990	43381990	+	Splice_Site	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr3:43381990G>C	ENST00000296088.7	+	5	1247	c.943G>C	c.(943-945)Gaa>Caa	p.E315Q	SNRK_ENST00000454177.1_Splice_Site_p.E315Q|SNRK_ENST00000429705.2_Splice_Site_p.E315Q|SNRK_ENST00000437827.1_Splice_Site_p.E109Q	NM_017719.4	NP_060189.3	Q9NRH2	SNRK_HUMAN	SNF related kinase	315	UBA.				myeloid cell differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		CGCCATTGTAGAGTACGTCAA	0.488000													6	26					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55587175	55587175	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr10:55587175C>T	ENST00000373965.2	-	33	4760	c.4366G>A	c.(4366-4368)Gaa>Aaa	p.E1456K	PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395432.2_Missense_Mutation_p.E1409K|PCDH15_ENST00000395438.1_Missense_Mutation_p.E1449K|PCDH15_ENST00000414778.1_Missense_Mutation_p.E1451K|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.E1446K|PCDH15_ENST00000320301.6_Missense_Mutation_p.E1449K|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.E1424K|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.E1378K|PCDH15_ENST00000361849.3_Missense_Mutation_p.E1449K|PCDH15_ENST00000395445.1_Missense_Mutation_p.E1456K|PCDH15_ENST00000409834.1_Missense_Mutation_p.E1060K	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1449					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CCAAGTTCTTCATAGAGATGC	0.552000										HNSCC(58;0.16)			13	36					0	0	1	0	0
C2CD3	26005	broad.mit.edu	37	11	73748616	73748616	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr11:73748616G>A	ENST00000334126.7	-	30	6014	c.5788C>T	c.(5788-5790)Ctt>Ttt	p.L1930F	C2CD3_ENST00000313663.7_Missense_Mutation_p.L1930F			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1930						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					CCTGGCCCAAGATGGTCCCTA	0.557000													15	81					0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175049448	175049448	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr1:175049448G>T	ENST00000239462.4	+	4	1047	c.934G>T	c.(934-936)Gag>Tag	p.E312*		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	312	Fibronectin type-III 1.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		AGTGCCCAAGGAGCAGCACAG	0.552000													18	40					3.41278e-10	3.5958e-10	1	1	0
KIDINS220	57498	broad.mit.edu	37	2	8926117	8926117	+	Silent	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr2:8926117G>A	ENST00000256707.3	-	17	2164	c.1983C>T	c.(1981-1983)gtC>gtT	p.V661V	KIDINS220_ENST00000473731.1_Silent_p.V661V|KIDINS220_ENST00000427284.1_Silent_p.V661V|KIDINS220_ENST00000319688.5_Silent_p.V662V|KIDINS220_ENST00000418530.1_Silent_p.V619V	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	661	KAP NTPase.				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane		p.V661V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					AAAGGAAGATGACAAAAGATG	0.323000													6	18					0	0	1	0	0
REST	5978	broad.mit.edu	37	4	57797247	57797247	+	Silent	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr4:57797247G>A	ENST00000309042.7	+	4	2537	c.2223G>A	c.(2221-2223)caG>caA	p.Q741Q		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	741	Pro-rich.				cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					AGGTGGTCCAGAAGGAGCCTG	0.557000													56	198					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	A	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr9:20414343A>G	ENST00000380338.4	-	5	787	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	167	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S167S(19)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.532000			T	MLL	ALL								3	47					0	0	1	0	0
KIF13A	63971	broad.mit.edu	37	6	17837139	17837139	+	Silent	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr6:17837139C>T	ENST00000378814.5	-	11	1124	c.1125G>A	c.(1123-1125)gaG>gaA	p.E375E	KIF13A_ENST00000259711.6_Silent_p.E375E|KIF13A_ENST00000378843.2_Silent_p.E375E|KIF13A_ENST00000378826.2_Silent_p.E375E|KIF13A_ENST00000378816.5_Silent_p.E375E	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	375					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			CTCTCAGTTTCTCGACTTCCT	0.522000													34	152					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141215068	141215068	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr2:141215068C>G	ENST00000389484.3	-	61	10749	c.9778G>C	c.(9778-9780)Gat>Cat	p.D3260H		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3260					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)		ACCTGGATATCTGTGATGGCA	0.393000										TSP Lung(27;0.18)			16	64					0	0	1	0	0
ALPI	248	broad.mit.edu	37	2	233321360	233321360	+	Silent	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr2:233321360G>A	ENST00000295463.3	+	3	332	c.255G>A	c.(253-255)gaG>gaA	p.E85E		NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN	alkaline phosphatase, intestinal	85					phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		TGGGGCCTGAGACGCCCCTGG	0.597000													4	11					0	0	1	0	0
DHRS11	79154	broad.mit.edu	37	17	34956605	34956605	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr17:34956605G>C	ENST00000251312.5	+	7	968	c.756G>C	c.(754-756)caG>caC	p.Q252H	DHRS11_ENST00000590554.1_Missense_Mutation_p.Q173H	NM_024308.3	NP_077284.2	Q6UWP2	DHR11_HUMAN	dehydrogenase/reductase (SDR family) member 11	252						extracellular region	binding|oxidoreductase activity			endometrium(1)|lung(4)	5						GAGACATCCAGATGAGGCCCA	0.602000													5	15					0	0	1	0	0
ATM	472	broad.mit.edu	37	11	108170548	108170548	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr11:108170548G>A	ENST00000278616.4	+	34	5498	c.5113G>A	c.(5113-5115)Gat>Aat	p.D1705N	ATM_ENST00000452508.2_Missense_Mutation_p.D1705N	NM_000051.3	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	1705					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		GTTATTTGAAGATAAAGAACT	0.368000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			27	109					0	0	1	0	0
MAP3K19	80122	broad.mit.edu	37	2	135739074	135739074	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr2:135739074G>A	ENST00000392915.1	-	10	3559	c.3440C>T	c.(3439-3441)tCa>tTa	p.S1147L	MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392917.3_Silent_p.L211L|MAP3K19_ENST00000375844.3_Silent_p.L261L|MAP3K19_ENST00000358371.4_Silent_p.L966L|MAP3K19_ENST00000375845.3_Silent_p.L1079L|MAP3K19_ENST00000392918.3_Intron					mitogen-activated protein kinase kinase kinase 19																		CTTGACTAGTGAGACCACAGT	0.368000													12	62					0	0	1	0	0
ITGB4	3691	broad.mit.edu	37	17	73739797	73739797	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr17:73739797G>C	ENST00000200181.3	+	26	3153	c.2966G>C	c.(2965-2967)aGa>aCa	p.R989T	ITGB4_ENST00000449880.2_Missense_Mutation_p.R989T|ITGB4_ENST00000339591.3_Missense_Mutation_p.R989T|ITGB4_ENST00000579662.1_Missense_Mutation_p.R989T|ITGB4_ENST00000450894.3_Missense_Mutation_p.R989T	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	989	Calx-beta.				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CTTGCAGCCAGAGACGTGGTG	0.662000													5	38					0	0	1	0	0
H3F3B	3021	broad.mit.edu	37	17	73774795	73774795	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr17:73774795C>A	ENST00000254810.4	-	4	424	c.292G>T	c.(292-294)Gaa>Taa	p.E98*	H3F3B_ENST00000593254.1_5'UTR|H3F3B_ENST00000592643.1_Silent_p.A73A|H3F3B_ENST00000587560.1_Nonsense_Mutation_p.E98*|H3F3B_ENST00000591890.1_3'UTR|H3F3B_ENST00000589599.1_Nonsense_Mutation_p.E98*|H3F3B_ENST00000586607.1_Nonsense_Mutation_p.E98*	NM_005324.3	NP_005315.1	P84243	H33_HUMAN	H3 histone, family 3B (H3.3B)	98					blood coagulation|nucleosome assembly	nucleoplasm|nucleosome	DNA binding			large_intestine(1)|lung(4)|ovary(2)|skin(1)	8	all_cancers(13;1.5e-07)		all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			AGGTACGCTTCGCTAGCCTCC	0.587000													27	39					1.17739e-12	1.25639e-12	1	1	0
IMPG2	50939	broad.mit.edu	37	3	100949913	100949913	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr3:100949913T>C	ENST00000193391.7	-	16	3497	c.3310A>G	c.(3310-3312)Atc>Gtc	p.I1104V		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	1104					visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						GCAATAGTGATGCCTATGATC	0.507000													20	121					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	31038933	31038933	+	Missense_Mutation	SNP	C	C	T	rs140147461		TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr19:31038933C>T	ENST00000355537.3	+	4	2554	c.2407C>T	c.(2407-2409)Cgg>Tgg	p.R803W		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	803					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GCGACACCATCGGGAGCGGCA	0.527000													9	47					0	0	1	0	0
PUS7L	83448	broad.mit.edu	37	12	44148499	44148499	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr12:44148499G>A	ENST00000416848.2	-	2	1038	c.550C>T	c.(550-552)Cca>Tca	p.P184S	PUS7L_ENST00000431332.3_Intron|PUS7L_ENST00000551923.1_Missense_Mutation_p.P184S|PUS7L_ENST00000553166.1_Missense_Mutation_p.P184S|PUS7L_ENST00000344862.5_Missense_Mutation_p.P184S	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)-like	184					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		ACTAAAAATGGAAATTTCTGC	0.348000													14	51					0	0	1	0	0
ATP2B2	491	broad.mit.edu	37	3	10379904	10379904	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr3:10379904C>T	ENST00000397077.1	-	21	3816	c.3241G>A	c.(3241-3243)Ggc>Agc	p.G1081S	ATP2B2_ENST00000360273.2_Missense_Mutation_p.G1126S|ATP2B2_ENST00000343816.4_Missense_Mutation_p.G1112S|ATP2B2_ENST00000352432.4_Missense_Mutation_p.G1126S|ATP2B2_ENST00000383800.4_Missense_Mutation_p.G1081S			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	1126					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						AGGATCTGGCCCCGCCGCAGC	0.682000													4	26					0	0	1	0	0
LLPH	84298	broad.mit.edu	37	12	66517632	66517632	+	Silent	SNP	A	A	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr12:66517632A>C	ENST00000266604.2	-	3	448	c.378T>G	c.(376-378)ggT>ggG	p.G126G	LLPH_ENST00000446587.2_Silent_p.G126G	NM_032338.3	NP_115714.1	Q9BRT6	LLPH_HUMAN	LLP homolog, long-term synaptic facilitation (Aplysia)	126										central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|skin(1)	5						ACCAGGCCAAACCCTTTGCCA	0.413000													25	87					0	0	1	0	0
SNRK	54861	broad.mit.edu	37	3	43381800	43381800	+	Silent	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr3:43381800G>A	ENST00000296088.7	+	5	1057	c.753G>A	c.(751-753)caG>caA	p.Q251Q	SNRK_ENST00000454177.1_Silent_p.Q251Q|SNRK_ENST00000429705.2_Silent_p.Q251Q|SNRK_ENST00000437827.1_Silent_p.Q45Q	NM_017719.4	NP_060189.3	Q9NRH2	SNRK_HUMAN	SNF related kinase	251	Protein kinase.				myeloid cell differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		GGATGCTACAGAGAGATCCCA	0.413000													25	114					0	0	1	0	0
EPHB2	2048	broad.mit.edu	37	1	23233234	23233234	+	Silent	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr1:23233234G>C	ENST00000400191.3	+	11	1938	c.1920G>C	c.(1918-1920)ctG>ctC	p.L640L	EPHB2_ENST00000374630.3_Silent_p.L640L|EPHB2_ENST00000374627.1_Silent_p.L635L|EPHB2_ENST00000374632.3_Silent_p.L641L	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	640	Protein kinase.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		GTGGCCACCTGAAGCTGCCAG	0.582000													4	17					0	0	1	0	0
LILRA2	11027	broad.mit.edu	37	19	55087518	55087518	+	Silent	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr19:55087518C>G	ENST00000251377.3	+	7	1330	c.1197C>G	c.(1195-1197)ctC>ctG	p.L399L	LILRA2_ENST00000391738.3_Silent_p.L399L|LILRA2_ENST00000251376.3_Silent_p.L399L|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391737.1_Silent_p.L387L|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396321.2_Intron					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2											breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		ACAGCTCACTCAGCTCCAACC	0.592000													18	69					0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155157229	155157229	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr4:155157229C>T	ENST00000357232.4	-	25	7209	c.7210G>A	c.(7210-7212)Gat>Aat	p.D2404N		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2		Cadherin 21.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GCAGTTGCATCACCTTTGTCT	0.423000													7	91					0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8201331	8201331	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr19:8201331G>T	ENST00000600128.1	-	11	1700	c.1286C>A	c.(1285-1287)tCc>tAc	p.S429Y	FBN3_ENST00000601739.1_Missense_Mutation_p.S429Y|FBN3_ENST00000270509.2_Missense_Mutation_p.S429Y			Q75N90	FBN3_HUMAN	fibrillin 3	429	EGF-like 3.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GCGGTAGCTGGAAGGCGTGGG	0.652000													27	49					4.22769e-11	4.4827e-11	1	1	0
TUBG2	27175	broad.mit.edu	37	17	40818404	40818404	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr17:40818404G>A	ENST00000251412.7	+	10	1259	c.1060G>A	c.(1060-1062)Gcc>Acc	p.A354T		NM_016437.2	NP_057521.1	Q9NRH3	TBG2_HUMAN	tubulin, gamma 2	354					G2/M transition of mitotic cell cycle|microtubule-based process|protein polymerization	cytosol	GTP binding|GTPase activity|structural molecule activity	p.A354T(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.141)		GTGGGGCCCCGCCAGCATCCA	0.657000													3	35					0	0	1	0	0
ADAMTS4	9507	broad.mit.edu	37	1	161163802	161163802	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr1:161163802C>G	ENST00000367996.5	-	5	1899	c.1471G>C	c.(1471-1473)Gat>Cat	p.D491H		NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4		Disintegrin.				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GGTGTGCCATCGGCCCAGGGC	0.657000													3	45					0	0	1	0	0
ERBB3	2065	broad.mit.edu	37	12	56493443	56493443	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr12:56493443G>A	ENST00000267101.3	+	24	3291	c.2851G>A	c.(2851-2853)Gat>Aat	p.D951N	ERBB3_ENST00000450146.2_Missense_Mutation_p.D308N|ERBB3_ENST00000549832.1_Missense_Mutation_p.D71N|ERBB3_ENST00000553131.1_Missense_Mutation_p.D192N|ERBB3_ENST00000415288.2_Missense_Mutation_p.D892N	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	951	Protein kinase.				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			TTGGATGATTGATGAGAACAT	0.483000													12	53					0	0	1	0	0
BBX	56987	broad.mit.edu	37	3	107497231	107497231	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr3:107497231G>C	ENST00000415149.2	+	13	2395	c.2068G>C	c.(2068-2070)Gat>Cat	p.D690H	BBX_ENST00000406780.1_Missense_Mutation_p.D690H|BBX_ENST00000416476.2_Missense_Mutation_p.W353C|BBX_ENST00000402543.1_Missense_Mutation_p.D690H|BBX_ENST00000325805.8_Missense_Mutation_p.D690H|BBX_ENST00000473542.1_3'UTR	NM_001142568.1|NM_020235.5	NP_001136040.1|NP_064620.2	Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	690	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			CGCAAAGCTGGATGAAGAATT	0.373000													25	49					0	0	1	0	0
PPARG	5468	broad.mit.edu	37	3	12458312	12458312	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr3:12458312T>C	ENST00000397026.2	+	8	1246	c.863T>C	c.(862-864)tTt>tCt	p.F288S	PPARG_ENST00000309576.6_Missense_Mutation_p.F282S|PPARG_ENST00000397000.1_Intron|PPARG_ENST00000397015.2_Missense_Mutation_p.F282S|PPARG_ENST00000397010.2_Missense_Mutation_p.F282S|PPARG_ENST00000287820.6_Missense_Mutation_p.F310S|PPARG_ENST00000539812.1_Intron|PPARG_ENST00000397012.2_Missense_Mutation_p.F282S			P37231	PPARG_HUMAN	peroxisome proliferator-activated receptor gamma	310					activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding		PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)	ATCCGCATCTTTCAGGGCTGC	0.468000			T	PAX8	follicular thyroid		"""Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"""						12	28					0	0	1	0	0
KAT2B	8850	broad.mit.edu	37	3	20178502	20178502	+	Silent	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr3:20178502C>T	ENST00000263754.4	+	12	2273	c.1818C>T	c.(1816-1818)ctC>ctT	p.L606L		NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	606	N-acetyltransferase.				cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter	Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex	cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						TGAACTTCCTCACATATGCAG	0.368000													7	29					0	0	1	0	0
DUXA	503835	broad.mit.edu	37	19	57669783	57669783	+	Silent	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr19:57669783G>A	ENST00000554048.2	-	4	350	c.351C>T	c.(349-351)atC>atT	p.I117I		NM_001012729.1	NP_001012747.1	A6NLW8	DUXA_HUMAN	double homeobox A	117						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0123)		TAAATGCCTTGATGAGAGTGT	0.478000													11	51					0	0	1	0	0
SMCO3	440087	broad.mit.edu	37	12	14959539	14959539	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr12:14959539G>A	ENST00000316048.2	-	2	148	c.76C>T	c.(76-78)Ctt>Ttt	p.L26F	C12orf60_ENST00000527783.1_Intron|C12orf60_ENST00000330828.2_Intron	NM_001013698.2	NP_001013720.2			single-pass membrane protein with coiled-coil domains 3																		AAGCAATCAAGAAGCTGCTGG	0.443000													23	57					0	0	1	0	0
CLIP1	6249	broad.mit.edu	37	12	122825761	122825761	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr12:122825761C>G	ENST00000358808.2	-	10	2111	c.1957G>C	c.(1957-1959)Gag>Cag	p.E653Q	CLIP1_ENST00000361654.4_Missense_Mutation_p.E618Q|CLIP1_ENST00000545889.1_Missense_Mutation_p.E354Q|CLIP1_ENST00000537178.1_Missense_Mutation_p.E618Q|CLIP1_ENST00000540338.1_Missense_Mutation_p.E664Q|CLIP1_ENST00000302528.7_Missense_Mutation_p.E653Q	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	664					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		CTCATTTTCTCTATTTGTGTT	0.448000													18	85					0	0	1	0	0
RAB11FIP1	80223	broad.mit.edu	37	8	37732058	37732058	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr8:37732058G>A	ENST00000330843.4	-	3	1609	c.1597C>T	c.(1597-1599)Ccc>Tcc	p.P533S	RAB11FIP1_ENST00000524118.1_Missense_Mutation_p.P385S|RAB11FIP1_ENST00000522727.1_Missense_Mutation_p.P385S|RAB11FIP1_ENST00000287263.4_Missense_Mutation_p.P533S	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	533					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			CTGGTCTGGGGAGCCCTCGGA	0.542000													3	50					0	0	1	0	0
ZNF132	7691	broad.mit.edu	37	19	58944738	58944738	+	Silent	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr19:58944738G>C	ENST00000254166.3	-	3	2473	c.2073C>G	c.(2071-2073)ctC>ctG	p.L691L		NM_003433.3	NP_003424.3	P52740	ZN132_HUMAN	zinc finger protein 132	691						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		GATGGCTGAAGAGTTTCCCAC	0.433000													12	61					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11787059	11787059	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr17:11787059G>C	ENST00000262442.4	+	56	11031	c.10963G>C	c.(10963-10965)Gag>Cag	p.E3655Q	DNAH9_ENST00000396001.2_3'UTR|DNAH9_ENST00000608377.1_5'UTR|DNAH9_ENST00000454412.2_Missense_Mutation_p.E3655Q	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9		AAA 5 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TGCCGAAGTTGAGAAAAAGGT	0.507000													5	33					0	0	1	0	0
COLGALT2	23127	broad.mit.edu	37	1	183938560	183938560	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr1:183938560C>G	ENST00000361927.4	-	5	1046	c.675G>C	c.(673-675)aaG>aaC	p.K225N	COLGALT2_ENST00000546159.1_Missense_Mutation_p.K225N	NM_015101.2	NP_055916.1			collagen beta(1-O)galactosyltransferase 2																		AGCCTGTCCTCTTCCATTCTC	0.512000													20	31					0	0	1	0	0
FAM53B	9679	broad.mit.edu	37	10	126370735	126370735	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr10:126370735G>T	ENST00000337318.3	-	4	558	c.347C>A	c.(346-348)tCa>tAa	p.S116*	RP11-12J10.3_ENST00000494792.1_3'UTR|FAM53B_ENST00000392754.3_Nonsense_Mutation_p.S116*|FAM53B_ENST00000280780.6_Nonsense_Mutation_p.S116*	NM_014661.3	NP_055476.3	Q14153	FA53B_HUMAN	family with sequence similarity 53, member B	116										cervix(1)|lung(5)|ovary(2)|pancreas(1)	9		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)		GAAGGACAGTGAGCGGCACTG	0.607000													4	5					0.00909568	0.00917812	1	1	0
C19orf45	374877	broad.mit.edu	37	19	7566164	7566164	+	Silent	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr19:7566164C>T	ENST00000361664.2	+	2	597	c.456C>T	c.(454-456)ttC>ttT	p.F152F		NM_198534.2	NP_940936.2	Q8NA69	CS045_HUMAN	chromosome 19 open reading frame 45	152										endometrium(1)|kidney(1)|liver(1)|lung(2)|ovary(2)|stomach(1)	8						GCCTCATCTTCGACCGCGACT	0.751000													6	17					0	0	1	0	0
ZNF585A	199704	broad.mit.edu	37	19	37643204	37643204	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr19:37643204G>A	ENST00000356958.4	-	5	1855	c.1597C>T	c.(1597-1599)Cag>Tag	p.Q533*	ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000392157.2_Nonsense_Mutation_p.Q478*|ZNF585A_ENST00000292841.5_Nonsense_Mutation_p.Q478*|ZNF585A_ENST00000355533.2_Intron			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	533					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGTGACTTCTGAGTGAAGGCT	0.428000													23	86					0	0	1	0	0
KRT23	25984	broad.mit.edu	37	17	39092489	39092489	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr17:39092489C>A	ENST00000209718.3	-	2	791	c.367G>T	c.(367-369)Gag>Tag	p.E123*	KRT23_ENST00000436344.3_Intron|AC004231.2_ENST00000418393.1_RNA	NM_015515.3	NP_056330.3	Q9C075	K1C23_HUMAN	keratin 23 (histone deacetylase inducible)	123	Linker 1.|Rod.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000301)|Ovarian(249;0.15)				ATGTTTTCCTCATACTGGGAA	0.547000													12	47					3.07112e-06	3.17243e-06	1	1	0
C14orf39	317761	broad.mit.edu	37	14	60923759	60923759	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr14:60923759C>G	ENST00000321731.3	-	15	1393	c.1234G>C	c.(1234-1236)Gaa>Caa	p.E412Q		NM_174978.2	NP_777638	Q08AQ4	Q08AQ4_HUMAN	chromosome 14 open reading frame 39	412										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)		GCTCTCTCTTCTACTTCATCA	0.348000													5	76					0	0	1	0	0
MCM10	55388	broad.mit.edu	37	10	13234282	13234282	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr10:13234282C>G	ENST00000378694.1	+	11	1619	c.1544C>G	c.(1543-1545)tCt>tGt	p.S515C	MCM10_ENST00000378714.3_Missense_Mutation_p.S515C|MCM10_ENST00000484800.2_Missense_Mutation_p.S516C			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	516					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						CTGTCTTGCTCTGAGGAGTTC	0.483000													4	18					0	0	1	0	0
SRSF11	9295	broad.mit.edu	37	1	70715728	70715728	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr1:70715728G>C	ENST00000370950.3	+	11	1198	c.1116G>C	c.(1114-1116)agG>agC	p.R372S	SRSF11_ENST00000405432.1_Missense_Mutation_p.R372S|SRSF11_ENST00000370949.1_Missense_Mutation_p.R312S|SRSF11_ENST00000370951.1_Missense_Mutation_p.R372S|SRSF11_ENST00000484162.1_3'UTR			Q05519	SRS11_HUMAN	serine/arginine-rich splicing factor 11	372					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding			large_intestine(3)|ovary(2)|skin(1)	6						CATCCCCTAGGAGGTAAGAAT	0.373000													4	24					0	0	1	0	0
SNAI3	333929	broad.mit.edu	37	16	88747913	88747913	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr16:88747913G>C	ENST00000332281.5	-	2	372	c.286C>G	c.(286-288)Cgg>Ggg	p.R96G	SNAI3-AS1_ENST00000563261.1_RNA	NM_178310.3	NP_840101.1	Q3KNW1	SNAI3_HUMAN	snail family zinc finger 3	96					oxidation-reduction process		copper ion binding|DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|kidney(1)|lung(1)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(80;0.048)		CGGCTGGCCCGAGGGTCGACC	0.687000													10	48					0	0	1	0	0
PARP8	79668	broad.mit.edu	37	5	50073937	50073937	+	Silent	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr5:50073937C>T	ENST00000281631.5	+	8	711	c.553C>T	c.(553-555)Ctg>Ttg	p.L185L	PARP8_ENST00000505697.2_Silent_p.L185L|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000514067.2_Silent_p.L185L|PARP8_ENST00000503750.2_Silent_p.L185L|PARP8_ENST00000505554.1_Silent_p.L164L|PARP8_ENST00000514342.2_5'UTR	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	185						intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				AGATATTGATCTGCATATCGA	0.279000													7	19					0	0	1	0	0
ATP11A	23250	broad.mit.edu	37	13	113508844	113508844	+	Splice_Site	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr13:113508844G>A	ENST00000487903.1	+	19	2331	c.2243G>A	c.(2242-2244)gGa>gAa	p.G748E	ATP11A_ENST00000283558.8_Splice_Site_p.G748E|ATP11A_ENST00000375645.3_Splice_Site_p.G748E|ATP11A_ENST00000375630.2_Splice_Site_p.G748E			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	748					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				AACCTGTCCGGGTAGGCAGCG	0.647000													3	18					0	0	1	0	0
RBM12B	389677	broad.mit.edu	37	8	94747515	94747515	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr8:94747515G>A	ENST00000399300.2	-	3	1337	c.1124C>T	c.(1123-1125)tCa>tTa	p.S375L	RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Missense_Mutation_p.S375L	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	375							nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			TAGTGACCCTGATCTCTTCTT	0.363000													14	69					0	0	1	0	0
GNPAT	8443	broad.mit.edu	37	1	231402031	231402031	+	Silent	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr1:231402031G>A	ENST00000366647.4	+	8	1102	c.933G>A	c.(931-933)ctG>ctA	p.L311L	GNPAT_ENST00000366646.3_Silent_p.L250L	NM_014236.3	NP_055051.1	O15228	GNPAT_HUMAN	glyceronephosphate O-acyltransferase	311					ether lipid biosynthetic process|fatty acid metabolic process|organ morphogenesis	peroxisomal matrix|peroxisomal membrane	glycerone-phosphate O-acyltransferase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				AGGGGTTGCTGAAAGCCAGAA	0.423000													9	41					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7583532	7583532	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr6:7583532C>T	ENST00000379802.3	+	24	6378	c.6037C>T	c.(6037-6039)Cgg>Tgg	p.R2013W	DSP_ENST00000418664.2_Missense_Mutation_p.R1414W	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2013	Globular 2.				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)		GCCATTCCTTCGGGGTGCAGG	0.453000													6	27					0	0	1	0	0
BICD2	23299	broad.mit.edu	37	9	95477685	95477685	+	Silent	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr9:95477685G>A	ENST00000356884.6	-	7	2386	c.2319C>T	c.(2317-2319)gaC>gaT	p.D773D	BICD2_ENST00000375512.3_Silent_p.D773D	NM_001003800.1	NP_001003800.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	773	Interacts with RAB6A (By similarity).				microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						TCTTCTTCTCGTCCTCAGCAG	0.617000													6	29					0	0	1	0	0
SLC6A18	348932	broad.mit.edu	37	5	1239639	1239639	+	Silent	SNP	C	C	T	rs137936927	byFrequency	TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr5:1239639C>T	ENST00000324642.3	+	6	930	c.807C>T	c.(805-807)ttC>ttT	p.F269F	SLC6A18_ENST00000296821.4_Silent_p.F264F	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	269					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CCCTGGCCTTCGGAGGACACA	0.592000													11	43					0	0	1	0	0
PDILT	204474	broad.mit.edu	37	16	20410434	20410434	+	Silent	SNP	G	G	A	rs140659319		TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr16:20410434G>A	ENST00000302451.4	-	2	437	c.189C>T	c.(187-189)ctC>ctT	p.L63L		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	63					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						AAAGCACCATGAGGAAGCGGG	0.552000													4	31					0	0	1	0	0
SDCCAG3	10807	broad.mit.edu	37	9	139304599	139304599	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr9:139304599G>A	ENST00000298537.7	-	2	374	c.163C>T	c.(163-165)Cgg>Tgg	p.R55W	SDCCAG3_ENST00000371725.3_Intron|SDCCAG3_ENST00000357365.3_Missense_Mutation_p.R55W	NM_006643.3	NP_006634.3	Q96C92	SDCG3_HUMAN	serologically defined colon cancer antigen 3	55						cytoplasm				NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	16		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06)		AAGGCCGGCCGAATGCcgaag	0.652000													3	6					0	0	1	0	0
MAP2K4	6416	broad.mit.edu	37	17	12032558	12032558	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr17:12032558G>A	ENST00000415385.3	+	10	1080	c.1027G>A	c.(1027-1029)Gag>Aag	p.E343K	MAP2K4_ENST00000353533.5_Missense_Mutation_p.E332K	NM_001281435.1	NP_001268364.1	P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	332	Protein kinase.				cellular response to mechanical stimulus|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|JUN kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.0?(10)|p.?(1)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		GAGTAATTCTGAGGAAAGGGA	0.438000			"""D, Mis, N"""		"""pancreatic, breast, colorectal"""								7	38					0	0	1	0	0
ICMT	23463	broad.mit.edu	37	1	6285271	6285271	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr1:6285271G>A	ENST00000343813.5	-	5	752	c.724C>T	c.(724-726)Cga>Tga	p.R242*		NM_012405.3	NP_036537.1	O60725	ICMT_HUMAN	isoprenylcysteine carboxyl methyltransferase	242					protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein C-terminal S-isoprenylcysteine carboxyl O-methyltransferase activity			NS(1)|endometrium(2)	3	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;2.4e-22)|all_lung(118;2.65e-08)|Lung NSC(185;6.45e-07)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000688)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;5.52e-38)|GBM - Glioblastoma multiforme(13;6.51e-32)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;7.08e-08)|COAD - Colon adenocarcinoma(227;8.35e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		CGGAAGAATCGCCACACTGTC	0.542000													17	52					0	0	1	0	0
RAD54L2	23132	broad.mit.edu	37	3	51679710	51679710	+	Silent	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr3:51679710G>A	ENST00000409535.2	+	17	2885	c.2760G>A	c.(2758-2760)ttG>ttA	p.L920L	RAD54L2_ENST00000296477.3_Silent_p.L614L	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)							nucleus	ATP binding|DNA binding|helicase activity			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		AAGTTTCCTTGAACGTAAAGG	0.493000													5	11					0	0	1	0	0
NOL7	51406	broad.mit.edu	37	6	13620485	13620485	+	Silent	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr6:13620485G>C	ENST00000451315.2	+	6	578	c.546G>C	c.(544-546)ctG>ctC	p.L182L	NOL7_ENST00000474485.1_3'UTR|AL441883.1_ENST00000600057.1_Silent_p.L97L	NM_016167.3	NP_057251.2	Q9UMY1	NOL7_HUMAN	nucleolar protein 7, 27kDa	182						mitochondrion|nucleolus				breast(1)|large_intestine(3)|lung(1)	5	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.135)	Epithelial(50;0.176)			ACCAAGATCTGAGAGATTCAA	0.348000													5	76					0	0	1	0	0
GPD1L	23171	broad.mit.edu	37	3	32180162	32180162	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr3:32180162C>G	ENST00000282541.5	+	3	510	c.309C>G	c.(307-309)atC>atG	p.I103M		NM_015141.3	NP_055956.1	Q8N335	GPD1L_HUMAN	glycerol-3-phosphate dehydrogenase 1-like	103					glycerol-3-phosphate catabolic process	glycerol-3-phosphate dehydrogenase complex	glycerol-3-phosphate dehydrogenase|NAD binding|protein homodimerization activity			large_intestine(4)|lung(7)|ovary(1)	12						TTCACAGAATCTGTGATGAGA	0.512000													13	46					0	0	1	0	0
CLUH	23277	broad.mit.edu	37	17	2593934	2593934	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr17:2593934G>A	ENST00000570628.2	-	26	3989	c.3884C>T	c.(3883-3885)tCc>tTc	p.S1295F	CLUH_ENST00000538975.1_Missense_Mutation_p.S1295F|CLUH_ENST00000435359.1_Missense_Mutation_p.S1295F					clustered mitochondria (cluA/CLU1) homolog																		CGGGGGCTGGGAGCCCAGGTC	0.716000													4	14					0	0	1	0	0
EMR1	2015	broad.mit.edu	37	19	6924748	6924748	+	Silent	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr19:6924748C>G	ENST00000312053.4	+	15	1888	c.1851C>G	c.(1849-1851)ctC>ctG	p.L617L	EMR1_ENST00000250572.8_Intron|EMR1_ENST00000381404.4_Silent_p.L565L|EMR1_ENST00000381407.5_Silent_p.L476L|EMR1_ENST00000450315.3_Silent_p.L440L	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	617					cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					TGGTGTGCCTCGTCTTGGCCA	0.512000													5	29					0	0	1	0	0
SESTD1	91404	broad.mit.edu	37	2	179981401	179981401	+	Silent	SNP	A	A	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr2:179981401A>G	ENST00000428443.3	-	15	1957	c.1641T>C	c.(1639-1641)gtT>gtC	p.V547V		NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	547					regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			GCACCTGTGCAACATCAACAA	0.388000													13	51					0	0	1	0	0
ERC2	26059	broad.mit.edu	37	3	56026147	56026147	+	Silent	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr3:56026147C>T	ENST00000288221.6	-	11	2448	c.2193G>A	c.(2191-2193)gaG>gaA	p.E731E		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	731						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		CCTTGAGGATCTCCAGCAACC	0.473000													22	91					0	0	1	0	0
ZNF232	7775	broad.mit.edu	37	17	5013128	5013128	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr17:5013128G>A	ENST00000250076.3	-	3	713	c.59C>T	c.(58-60)tCt>tTt	p.S20F	ZNF232_ENST00000575538.1_5'UTR|ZNF232_ENST00000416429.2_5'UTR|ZNF232_ENST00000575898.1_Missense_Mutation_p.S20F	NM_014519.2	NP_055334.2	Q9UNY5	ZN232_HUMAN	zinc finger protein 232	158					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|prostate(2)	11						TAGCTCTGCAGAAGGCTCATA	0.453000													8	37					0	0	1	0	0
PANK1	53354	broad.mit.edu	37	10	91371744	91371744	+	Silent	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr10:91371744C>T	ENST00000307534.4	-	2	920	c.765G>A	c.(763-765)ccG>ccA	p.P255P	PANK1_ENST00000322191.6_Silent_p.P30P|PANK1_ENST00000371774.2_Silent_p.P57P|PANK1_ENST00000342512.3_Silent_p.P30P	NM_148977.2	NP_683878.1	Q8TE04	PANK1_HUMAN	pantothenate kinase 1	255					coenzyme A biosynthetic process|pantothenate metabolic process	cytosol|nucleus	ATP binding|pantothenate kinase activity			cervix(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	11					Bezafibrate(DB01393)	TAATATCCTTCGGCTCGAAAT	0.463000													13	31					0	0	1	0	0
RP11-50E11.3	0	broad.mit.edu	37	10	52390415	52390415	+	RNA	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr10:52390415G>C	ENST00000443374.2	+	0	1604																											AAGTCAGCTAGATAATGATCA	0.403000													8	38					0	0	1	0	0
LSG1	55341	broad.mit.edu	37	3	194371635	194371635	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr3:194371635C>G	ENST00000265245.5	-	10	1708	c.1394G>C	c.(1393-1395)aGa>aCa	p.R465T		NM_018385.2	NP_060855.2	Q9H089	LSG1_HUMAN	large 60S subunit nuclear export GTPase 1	465					nuclear export|protein transport	Cajal body|endoplasmic reticulum	GTP binding|hydrolase activity			breast(2)|endometrium(3)|large_intestine(2)|lung(9)	16	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)		AACATGATCTCTCATCTGATC	0.448000													30	27					0	0	1	0	0
DMXL1	1657	broad.mit.edu	37	5	118482547	118482547	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr5:118482547G>T	ENST00000311085.8	+	16	2665	c.2585G>T	c.(2584-2586)gGa>gTa	p.G862V	DMXL1_ENST00000539542.1_Missense_Mutation_p.G862V	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	862										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		TCACCTAATGGATTTTCTGAG	0.343000													10	31					1.08611e-07	1.13363e-07	1	1	0
WDR47	22911	broad.mit.edu	37	1	109553931	109553931	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr1:109553931G>A	ENST00000357672.3	-	4	1028	c.653C>T	c.(652-654)tCa>tTa	p.S218L	WDR47_ENST00000361054.3_Missense_Mutation_p.S218L|WDR47_ENST00000369965.4_Missense_Mutation_p.S246L|WDR47_ENST00000400794.3_Missense_Mutation_p.S253L|WDR47_ENST00000369962.3_Missense_Mutation_p.S246L			O94967	WDR47_HUMAN	WD repeat domain 47	246										breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		CTGAAGCCATGACAGTAAACT	0.383000													35	106					0	0	1	0	0
AMIGO3	386724	broad.mit.edu	37	3	49756422	49756422	+	Silent	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr3:49756422G>C	ENST00000535833.1	-	10	3927	c.477C>G	c.(475-477)ctC>ctG	p.L159L	RNF123_ENST00000327697.6_Intron|GMPPB_ENST00000480687.1_3'UTR|RNF123_ENST00000433785.1_Intron|AMIGO3_ENST00000320431.7_Silent_p.L159L|RNF123_ENST00000497099.1_Intron			Q86WK7	AMGO3_HUMAN	adhesion molecule with Ig-like domain 3	159					heterophilic cell-cell adhesion	integral to membrane				endometrium(1)|pancreas(1)|prostate(2)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		AGAGATGGCTGAGCGCGCGCA	0.632000											OREG0015572	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	58					0	0	1	0	0
MMP2	4313	broad.mit.edu	37	16	55525729	55525729	+	Silent	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr16:55525729C>G	ENST00000219070.4	+	8	1706	c.1197C>G	c.(1195-1197)ctC>ctG	p.L399L	MMP2_ENST00000543485.1_Silent_p.L323L|MMP2_ENST00000570308.1_Silent_p.L323L|MMP2_ENST00000437642.2_Silent_p.L349L	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	399	Collagenase-like 2.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	GCCTGTTCCTCGTGGCAGCCC	0.577000													10	41					0	0	1	0	0
AFAP1	60312	broad.mit.edu	37	4	7795489	7795489	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr4:7795489G>C	ENST00000420658.1	-	11	1603	c.1331C>G	c.(1330-1332)aCa>aGa	p.T444R	AFAP1_ENST00000360265.4_Missense_Mutation_p.T444R|AFAP1_ENST00000513842.1_5'UTR|AFAP1_ENST00000358461.2_Missense_Mutation_p.T444R|AFAP1_ENST00000382543.3_Missense_Mutation_p.T444R	NM_001134647.1	NP_001128119.1	Q8N556	AFAP1_HUMAN	actin filament associated protein 1	444						actin cytoskeleton|cytoplasm|focal adhesion	actin binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						CTCCGGGTCTGTGGACGATCC	0.488000													14	71					0	0	1	0	0
WEE1	7465	broad.mit.edu	37	11	9597510	9597510	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr11:9597510G>A	ENST00000299613.6	+	2	765	c.10G>A	c.(10-12)Gaa>Aaa	p.E4K	WEE1_ENST00000450114.2_Missense_Mutation_p.E218K	NM_001143976.1	NP_001137448.1	P30291	WEE1_HUMAN	WEE1 G2 checkpoint kinase	218					blood coagulation|cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|S phase of mitotic cell cycle	nucleoplasm	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	23				all cancers(16;4.59e-09)|Epithelial(150;3.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0484)		CATGGATACAGAAAAATCAGG	0.408000													12	65					0	0	1	0	0
PRR11	55771	broad.mit.edu	37	17	57272757	57272757	+	Silent	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr17:57272757G>A	ENST00000262293.4	+	7	1122	c.810G>A	c.(808-810)ctG>ctA	p.L270L		NM_018304.3	NP_060774.2	Q96HE9	PRR11_HUMAN	proline rich 11	270										breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|pancreas(1)	16	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					ATGTTACCCTGAAACCTAACT	0.363000													11	56					0	0	1	0	0
TPP1	1200	broad.mit.edu	37	11	6636537	6636537	+	Silent	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr11:6636537C>G	ENST00000533371.1	-	10	1359	c.561G>C	c.(559-561)ctG>ctC	p.L187L	TPP1_ENST00000299427.6_Silent_p.L430L			O14773	TPP1_HUMAN	tripeptidyl peptidase I	430					bone resorption|cell death|lipid metabolic process|lysosome organization|nervous system development|neuromuscular process controlling balance|peptide catabolic process|protein catabolic process|proteolysis	lysosome|melanosome|soluble fraction	metal ion binding|peptide binding|protein binding|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)		GGCTAGAGCTCAGGAACTTCG	0.552000													6	23					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152584365	152584365	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr2:152584365G>T	ENST00000397345.3	-	5	336	c.134C>A	c.(133-135)tCa>tAa	p.S45*	NEB_ENST00000172853.10_Nonsense_Mutation_p.S45*|NEB_ENST00000409198.1_Nonsense_Mutation_p.S45*|NEB_ENST00000603639.1_Nonsense_Mutation_p.S45*|NEB_ENST00000427231.2_Nonsense_Mutation_p.S45*|NEB_ENST00000604864.1_Nonsense_Mutation_p.S45*	NM_001164508.1	NP_001157980	P20929	NEBU_HUMAN	nebulin	45					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GGAAGTTTCTGATTGCTCATA	0.438000													8	31					0.00307968	0.00312332	1	1	0
MALAT1	378938	broad.mit.edu	37	11	65271095	65271095	+	RNA	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr11:65271095G>C	ENST00000534336.1	+	0	5863					NR_002819.2																						TTTTATTAGAGAATGTATACT	0.299000													9	26					0	0	1	0	0
OPRD1	4985	broad.mit.edu	37	1	29189401	29189401	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr1:29189401G>C	ENST00000234961.2	+	3	967	c.725G>C	c.(724-726)aGt>aCt	p.S242T		NM_000911.3	NP_000902.3	P41143	OPRD_HUMAN	opioid receptor, delta 1	242					immune response|protein import into nucleus, translocation	integral to plasma membrane	delta-opioid receptor activity|protein binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	Butorphanol(DB00611)|Codeine(DB00318)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Loperamide(DB00836)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pimozide(DB01100)|Propoxyphene(DB00647)	CGCCTGCGCAGTGTGCGCCTG	0.642000													5	21					0	0	1	0	0
OTUD7B	56957	broad.mit.edu	37	1	149937765	149937765	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr1:149937765G>A	ENST00000369135.4	-	5	835	c.541C>T	c.(541-543)Cag>Tag	p.Q181*	OTUD7B_ENST00000479905.1_5'UTR	NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU domain containing 7B		Catalytic.|TRAF-binding.				negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			AGCAGCCTCTGAGAGGTGGGA	0.512000													5	23					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7584710	7584710	+	Silent	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr6:7584710C>T	ENST00000379802.3	+	24	7556	c.7215C>T	c.(7213-7215)ctC>ctT	p.L2405L	DSP_ENST00000418664.2_Silent_p.L1806L	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2405	Globular 2.				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)		GTGAGATTCTCTCAGATCCAA	0.418000													14	40					0	0	1	0	0
ZNF395	55893	broad.mit.edu	37	8	28218496	28218496	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr8:28218496G>C	ENST00000344423.5	-	2	277	c.146C>G	c.(145-147)tCt>tGt	p.S49C	ZNF395_ENST00000523095.1_Missense_Mutation_p.S49C|ZNF395_ENST00000523202.1_Missense_Mutation_p.S49C	NM_018660.2	NP_061130.1	Q9H8N7	ZN395_HUMAN	zinc finger protein 395	49					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		GGTGTCATCAGAGGTGGTGAA	0.672000													6	11					0	0	1	0	0
SLC34A2	10568	broad.mit.edu	37	4	25677780	25677780	+	Silent	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr4:25677780C>T	ENST00000382051.3	+	13	1532	c.1482C>T	c.(1480-1482)ttC>ttT	p.F494F	SLC34A2_ENST00000504570.1_Silent_p.F493F|SLC34A2_ENST00000503434.1_Silent_p.F493F	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	494					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				ACTTTTTCTTCAACATCTCCG	0.597000			T	ROS1	NSCLC								6	23					0	0	1	0	0
AKT3	10000	broad.mit.edu	37	1	243716087	243716087	+	Silent	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr1:243716087G>A	ENST00000366539.1	-	11	1307	c.1107C>T	c.(1105-1107)ctC>ctT	p.L369L	AKT3_ENST00000336199.5_Silent_p.L369L|AKT3_ENST00000263826.5_Silent_p.L369L|AKT3_ENST00000366540.1_Silent_p.L369L			Q9Y243	AKT3_HUMAN	v-akt murine thymoma viral oncogene homolog 3	369	Protein kinase.				signal transduction	Golgi apparatus|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|skin(3)|stomach(1)	26	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)			CATCTGAAGAGAGTGTTCGAG	0.358000													5	51					0	0	1	0	0
PLEKHB1	58473	broad.mit.edu	37	11	73361616	73361616	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr11:73361616G>A	ENST00000354190.5	+	3	544	c.113G>A	c.(112-114)tGg>tAg	p.W38*	PLEKHB1_ENST00000398492.4_Nonsense_Mutation_p.W38*|PLEKHB1_ENST00000227214.6_Nonsense_Mutation_p.W19*|PLEKHB1_ENST00000543085.1_Intron|PLEKHB1_ENST00000544532.1_3'UTR|PLEKHB1_ENST00000398494.4_Nonsense_Mutation_p.W19*|PLEKHB1_ENST00000535129.1_Nonsense_Mutation_p.W19*	NM_021200.2	NP_067023.1	Q9UF11	PKHB1_HUMAN	pleckstrin homology domain containing, family B (evectins) member 1	38	PH.				multicellular organismal development|phototransduction	cytoplasm|integral to membrane	signal transducer activity			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	7						CTCCGCCGCTGGAAGCGGAAC	0.592000													4	11					0	0	1	0	0
SDE2	163859	broad.mit.edu	37	1	226180135	226180135	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr1:226180135C>A	ENST00000272091.7	-	4	502	c.484G>T	c.(484-486)Gag>Tag	p.E162*		NM_152608.3	NP_689821.3			SDE2 telomere maintenance homolog (S. pombe)																		TCAGCCATCTCATGGCACTGC	0.567000													16	77					8.60227e-14	9.18921e-14	1	1	0
TTN	7273	broad.mit.edu	37	2	179658248	179658248	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr2:179658248C>G	ENST00000589042.1	-	9	1643	c.1419G>C	c.(1417-1419)aaG>aaC	p.K473N	TTN_ENST00000359218.5_Missense_Mutation_p.K473N|TTN_ENST00000460472.2_Missense_Mutation_p.K473N|TTN_ENST00000342175.6_Missense_Mutation_p.K473N|TTN_ENST00000591111.1_Missense_Mutation_p.K473N|TTN_ENST00000360870.5_Missense_Mutation_p.K473N|TTN_ENST00000342992.6_Missense_Mutation_p.K473N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	473							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)			TTACAGCAGTCTTCTCCGCTT	0.403000													12	64					0	0	1	0	0
FBXW10	10517	broad.mit.edu	37	17	18647716	18647716	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr17:18647716G>C	ENST00000308799.4	+	1	378	c.159G>C	c.(157-159)caG>caC	p.Q53H	FBXW10_ENST00000395665.4_Missense_Mutation_p.Q53H|FBXW10_ENST00000301938.4_Missense_Mutation_p.Q53H|FBXW10_ENST00000395667.1_Missense_Mutation_p.Q53H			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	53										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						ACATATCACAGAGGAGGTTTC	0.423000													22	80					0	0	1	0	0
PABPC1	26986	broad.mit.edu	37	8	101716565	101716565	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr8:101716565C>G	ENST00000318607.5	-	14	3000	c.1872G>C	c.(1870-1872)caG>caC	p.Q624H	PABPC1_ENST00000519004.1_Missense_Mutation_p.Q579H|PABPC1_ENST00000522387.1_Missense_Mutation_p.Q592H	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	624					mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			TAACTGCTTTCTGGGCAGCCT	0.403000													41	117					0	0	1	0	0
HELZ	9931	broad.mit.edu	37	17	65147255	65147255	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr17:65147255G>C	ENST00000358691.5	-	18	2429	c.2263C>G	c.(2263-2265)Cag>Gag	p.Q755E	HELZ_ENST00000580168.1_Missense_Mutation_p.Q756E	NM_014877.3	NP_055692			helicase with zinc finger											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					TGGGGCATCTGAAAGGTGGAA	0.438000													15	74					0	0	1	0	0
PITPNM2	57605	broad.mit.edu	37	12	123472867	123472867	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr12:123472867C>A	ENST00000280562.5	-	19	3098	c.2893G>T	c.(2893-2895)Gag>Tag	p.E965*	PITPNM2_ENST00000542749.1_Nonsense_Mutation_p.E971*|PITPNM2_ENST00000392428.1_Nonsense_Mutation_p.E692*|PITPNM2_ENST00000320201.4_Nonsense_Mutation_p.E971*			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	0					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		CCATCCAGCTCCAAGATGCTG	0.642000													29	126					1.39806e-14	1.49664e-14	1	1	0
ATMIN	23300	broad.mit.edu	37	16	81078222	81078222	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr16:81078222G>C	ENST00000566488.1	+	3	2614	c.1651G>C	c.(1651-1653)Gac>Cac	p.D551H	ATMIN_ENST00000539819.1_3'UTR|ATMIN_ENST00000299575.4_Missense_Mutation_p.D707H|ATMIN_ENST00000564241.1_Missense_Mutation_p.D551H			O43313	ATMIN_HUMAN	ATM interactor	707					response to DNA damage stimulus	nucleus	zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						GACACAGACAGACTTAAACTT	0.448000													23	94					0	0	1	0	0
GUCY2C	2984	broad.mit.edu	37	12	14825887	14825887	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr12:14825887C>T	ENST00000261170.3	-	9	1226	c.1090G>A	c.(1090-1092)Gac>Aac	p.D364N	RP11-174G6.1_ENST00000501178.2_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	364					intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						ACTGGACCGTCATACCCTAGG	0.448000													17	54					0	0	1	0	0
PRRX2	51450	broad.mit.edu	37	9	132484580	132484580	+	Silent	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr9:132484580C>G	ENST00000372469.4	+	4	938	c.711C>G	c.(709-711)ctC>ctG	p.L237L		NM_016307.3	NP_057391.1	Q99811	PRRX2_HUMAN	paired related homeobox 2	237						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(2)|pancreas(1)	3		Ovarian(14;0.00556)				GCCTCCGTCTCAAGGCCAAGG	0.642000													9	22					0	0	1	0	0
RLF	6018	broad.mit.edu	37	1	40668210	40668210	+	Nonsense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr1:40668210C>G	ENST00000372771.4	+	5	761	c.734C>G	c.(733-735)tCa>tGa	p.S245*		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	245					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			AAAGAAATTTCAAATGTGTCA	0.353000													7	42					0	0	1	0	0
CIB3	117286	broad.mit.edu	37	19	16284256	16284256	+	Missense_Mutation	SNP	C	C	G	rs147137999		TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr19:16284256C>G	ENST00000269878.4	-	1	80	c.31G>C	c.(31-33)Gag>Cag	p.E11Q	CIB3_ENST00000379859.3_Missense_Mutation_p.E11Q|CIB3_ENST00000541493.1_5'UTR	NM_054113.2	NP_473454.1	Q96Q77	CIB3_HUMAN	calcium and integrin binding family member 3	11							calcium ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16						TCCAGCTGCTCGTGTGTGAAG	0.577000													24	50					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9018439	9018439	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr19:9018439G>C	ENST00000397910.4	-	24	37938	c.37735C>G	c.(37735-37737)Ctg>Gtg	p.L12579V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12581	SEA 4.				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						GCACTAACCAGAGTCTGCAGG	0.532000													32	79					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PI3K helical.		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAATCACTGAGCAGGAGAA	0.353000	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			9	48					0	0	1	0	0
CR1	1378	broad.mit.edu	37	1	207669698	207669698	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr1:207669698C>T	ENST00000367049.4	+	1	86	c.86C>T	c.(85-87)gCg>gTg	p.A29V	CR1_ENST00000400960.2_Missense_Mutation_p.A29V|CR1_ENST00000367051.1_Missense_Mutation_p.A29V|CR1_ENST00000367050.4_3'UTR|CR1_ENST00000367052.1_Missense_Mutation_p.A29V|CR1_ENST00000367053.1_Missense_Mutation_p.A29V	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	29					complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TCCCTGCTGGCGGTTGTGGTG	0.731000													3	11					0	0	1	0	0
KCNJ3	3760	broad.mit.edu	37	2	155711634	155711634	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr2:155711634C>T	ENST00000295101.2	+	3	1792	c.1315C>T	c.(1315-1317)Cga>Tga	p.R439*		NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	439					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	GAAACTTCAACGAATAAGTTC	0.428000													15	64					0	0	1	0	0
NXF1	10482	broad.mit.edu	37	11	62560121	62560121	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr11:62560121G>C	ENST00000532297.1	-	21	2442	c.1813C>G	c.(1813-1815)Cat>Gat	p.H605D	NXF1_ENST00000533048.1_5'UTR|NXF1_ENST00000531709.2_3'UTR|NXF1_ENST00000294172.2_Missense_Mutation_p.H605D			Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1	605	TAP-C.				gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ACCTTGAGATGAGTGAAGGCC	0.527000													7	35					0	0	1	0	0
GRID1	2894	broad.mit.edu	37	10	87628830	87628830	+	Silent	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr10:87628830C>T	ENST00000327946.7	-	6	973	c.888G>A	c.(886-888)agG>agA	p.R296R		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	296						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	GGTGGTTGTTCCTCGTGCATT	0.582000										Multiple Myeloma(13;0.14)			16	50					0	0	1	0	0
NAV2	89797	broad.mit.edu	37	11	20113763	20113763	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr11:20113763G>C	ENST00000396085.1	+	29	6034	c.5673G>C	c.(5671-5673)gaG>gaC	p.E1891D	NAV2_ENST00000540292.1_Missense_Mutation_p.E1878D|NAV2_ENST00000527559.2_Missense_Mutation_p.E1876D|NAV2_ENST00000311043.8_Missense_Mutation_p.E952D|NAV2_ENST00000396087.3_Missense_Mutation_p.E1947D|NAV2_ENST00000349880.4_Missense_Mutation_p.E1888D|NAV2_ENST00000360655.4_Missense_Mutation_p.E1824D|NAV2_ENST00000533917.1_Missense_Mutation_p.E952D	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1947						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						GTGAAATAGAGAAGCTGAAAG	0.498000													16	64					0	0	1	0	0
CCDC144A	9720	broad.mit.edu	37	17	16667298	16667298	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr17:16667298G>T	ENST00000443444.2	+	15	4047	c.3907G>T	c.(3907-3909)Gag>Tag	p.E1303*	RP11-219A15.1_ENST00000448331.3_Nonsense_Mutation_p.E1303*|CCDC144A_ENST00000399273.1_Nonsense_Mutation_p.E1303*|CCDC144A_ENST00000360524.8_Nonsense_Mutation_p.E1303*|CCDC144A_ENST00000456009.1_Nonsense_Mutation_p.E1069*			A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	1303																	GATGATAGCAGAGGTCAGTAC	0.388000													4	47					0.0293803	0.029587	1	1	0
MYH7	4625	broad.mit.edu	37	14	23886468	23886468	+	Silent	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr14:23886468C>T	ENST00000355349.3	-	32	4575	c.4413G>A	c.(4411-4413)caG>caA	p.Q1471Q		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1471					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GAGCCTCCTTCTGCGAGGACT	0.582000													15	72					0	0	1	0	0
TRBV7-8	28590	broad.mit.edu	37	7	142099708	142099708	+	RNA	SNP	C	C	T	rs138699578	by1000genomes	TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr7:142099708C>T	ENST00000390359.3	-	0	132																											CCTCTCTTTGCGACTTTGTAC	0.473000													8	23					0	0	1	0	0
UBR5	51366	broad.mit.edu	37	8	103284793	103284793	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr8:103284793C>G	ENST00000520539.1	-	48	7543	c.6937G>C	c.(6937-6939)Gag>Cag	p.E2313Q	UBR5_ENST00000220959.4_Missense_Mutation_p.E2313Q|UBR5_ENST00000518205.1_Missense_Mutation_p.E42Q|UBR5_ENST00000521922.1_Missense_Mutation_p.E2307Q	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2313					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TGGATACACTCTAGATTTGGC	0.393000													15	79					0	0	1	0	0
OR1Q1	158131	broad.mit.edu	37	9	125377337	125377337	+	Silent	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr9:125377337C>T	ENST00000297913.2	+	1	390	c.321C>T	c.(319-321)ttC>ttT	p.F107F	RP11-64P14.7_ENST00000431442.1_RNA	NM_012364.1	NP_036496.1	Q15612	OR1Q1_HUMAN	olfactory receptor, family 1, subfamily Q, member 1	107					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	17						TCATTTGCTTCGCCGTCATGG	0.468000													32	103					0	0	1	0	0
SMG8	55181	broad.mit.edu	37	17	57292276	57292276	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr17:57292276G>C	ENST00000543872.2	+	5	3153	c.2889G>C	c.(2887-2889)gaG>gaC	p.E963D	SMG8_ENST00000300917.5_Missense_Mutation_p.E963D|CTD-2510F5.6_ENST00000577660.1_Missense_Mutation_p.E82D			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	963					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding			NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						ATGTGACTGAGAGAGGACCTT	0.468000													15	59					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49433365	49433365	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr12:49433365C>G	ENST00000301067.7	-	32	8081	c.8082G>C	c.(8080-8082)caG>caC	p.Q2694H		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		TGCGCTGGATCTGCTGCCGAA	0.592000													4	17					0	0	1	0	0
ZNF184	7738	broad.mit.edu	37	6	27420074	27420074	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr6:27420074C>G	ENST00000211936.6	-	6	1548	c.1264G>C	c.(1264-1266)Gaa>Caa	p.E422Q	ZNF184_ENST00000377419.1_Missense_Mutation_p.E422Q	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	422					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TTCCCACATTCATTGCATTCG	0.413000													14	56					0	0	1	0	0
PLS1	5357	broad.mit.edu	37	3	142396880	142396880	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr3:142396880G>A	ENST00000337777.3	+	6	717	c.504G>A	c.(502-504)atG>atA	p.M168I	PLS1_ENST00000497002.1_Missense_Mutation_p.M168I|PLS1_ENST00000457734.2_Missense_Mutation_p.M168I	NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN	plastin 1	168	Actin-binding 1.|CH 1.					cytoplasm	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						TTAGCAAAATGATCAACTTAT	0.274000													18	31					0	0	1	0	0
RBM19	9904	broad.mit.edu	37	12	114384248	114384248	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr12:114384248G>C	ENST00000545145.2	-	12	1518	c.1440C>G	c.(1438-1440)atC>atG	p.I480M	RBM19_ENST00000392561.3_Missense_Mutation_p.I480M|RBM19_ENST00000261741.5_Missense_Mutation_p.I480M	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	480	RRM 3.				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					CTTCCTTCTTGATGGTAGATG	0.567000													4	16					0	0	1	0	0
GAK	2580	broad.mit.edu	37	4	844822	844822	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr4:844822G>C	ENST00000314167.4	-	26	3669	c.3559C>G	c.(3559-3561)Caa>Gaa	p.Q1187E	GAK_ENST00000509566.1_5'UTR|GAK_ENST00000511163.1_Missense_Mutation_p.Q1108E	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	1187					cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		GAGAAGCCTTGATTGGACAAC	0.463000													18	55					0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169510104	169510104	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr1:169510104C>G	ENST00000367796.3	-	13	4440	c.4239G>C	c.(4237-4239)caG>caC	p.Q1413H	F5_ENST00000367797.3_Missense_Mutation_p.Q1408H			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1408	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	AAAGTGTCATCTGGTCGAGGT	0.517000													10	34					0	0	1	0	0
ZNF565	147929	broad.mit.edu	37	19	36674488	36674488	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr19:36674488C>G	ENST00000355114.5	-	5	1226	c.500G>C	c.(499-501)aGa>aCa	p.R167T	ZNF565_ENST00000304116.5_Missense_Mutation_p.R127T|ZNF565_ENST00000392173.2_Missense_Mutation_p.R127T			Q8N9K5	ZN565_HUMAN	zinc finger protein 565	127					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(4)|lung(4)|ovary(1)|skin(2)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.206)			ATTGACTTGTCTCTCAAACTG	0.488000													4	98					0	0	1	0	0
AFF2	2334	broad.mit.edu	37	X	148068996	148068996	+	Silent	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chrX:148068996C>T	ENST00000370460.2	+	20	4202	c.3723C>T	c.(3721-3723)caC>caT	p.H1241H	AFF2_ENST00000342251.3_Silent_p.H1208H|AFF2_ENST00000286437.5_Silent_p.H882H|AFF2_ENST00000370457.5_Silent_p.H1206H	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	1241					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					GCATTCACCACATGGCTGCCA	0.517000													13	57					0	0	1	0	0
PDE10A	10846	broad.mit.edu	37	6	165746585	165746585	+	Missense_Mutation	SNP	G	G	C	rs141939882		TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr6:165746585G>C	ENST00000366882.1	-	23	2423	c.2269C>G	c.(2269-2271)Cga>Gga	p.R757G	PDE10A_ENST00000539869.2_Missense_Mutation_p.R767G|PDE10A_ENST00000354448.4_Missense_Mutation_p.R757G			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	757					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding	p.R757*(1)		breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	TCCTCCCCTCGAATCACCTTC	0.488000													7	39					0	0	1	0	0
NUP214	8021	broad.mit.edu	37	9	134106065	134106065	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr9:134106065G>C	ENST00000359428.5	+	34	6267	c.6123G>C	c.(6121-6123)caG>caC	p.Q2041H	NUP214_ENST00000411637.2_Missense_Mutation_p.Q2031H|NUP214_ENST00000483497.2_Missense_Mutation_p.Q867H|NUP214_ENST00000451030.1_Missense_Mutation_p.Q2042H			P35658	NU214_HUMAN	nucleoporin 214kDa	2041	11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		TCGCGAGTCAGAATGCCCCCA	0.567000			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""								5	29					0	0	1	0	0
C12orf71	728858	broad.mit.edu	37	12	27235188	27235188	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr12:27235188G>C	ENST00000429849.2	-	1	259	c.229C>G	c.(229-231)Cag>Gag	p.Q77E		NM_001080406.1	NP_001073875.1	A8MTZ7	CL071_HUMAN	chromosome 12 open reading frame 71	77										endometrium(2)|large_intestine(1)|lung(4)|skin(1)	8						GGTTCATCCTGAATTTGGTCT	0.507000													4	21					0	0	1	0	0
ETV6	2120	broad.mit.edu	37	12	12037408	12037408	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr12:12037408C>G	ENST00000396373.4	+	6	1313	c.1039C>G	c.(1039-1041)Cag>Gag	p.Q347E		NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6	347						cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.Q347*(1)	ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				TTACGTCTATCAGTTGCTTTC	0.443000			T	"""NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"""	"""congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"""								25	100					0	0	1	0	0
ZNF697	90874	broad.mit.edu	37	1	120165535	120165535	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr1:120165535G>C	ENST00000421812.2	-	3	1550	c.1431C>G	c.(1429-1431)ttC>ttG	p.F477L		NM_001080470.1	NP_001073939.1	Q5TEC3	ZN697_HUMAN	zinc finger protein 697	477					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2	all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577)		TGAGCGTGGAGAAGTCGCTGA	0.647000													5	9					0	0	1	0	0
MYH11	4629	broad.mit.edu	37	16	15829285	15829285	+	Silent	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr16:15829285C>G	ENST00000452625.2	-	27	3552	c.3465G>C	c.(3463-3465)ctG>ctC	p.L1155L	MYH11_ENST00000396324.3_Silent_p.L1155L|MYH11_ENST00000576790.2_Silent_p.L1148L|MYH11_ENST00000300036.5_Silent_p.L1148L	NM_001040113.1	NP_001035202.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1148					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						TTAGGGCCTCCAGCTCCTCGC	0.612000			T	CBFB	AML								7	62					0	0	1	0	0
ERCC6	2074	broad.mit.edu	37	10	50678733	50678733	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr10:50678733C>G	ENST00000355832.5	-	18	3351	c.3273G>C	c.(3271-3273)ttG>ttC	p.L1091F	RP11-123B3.2_ENST00000423283.1_RNA|ERCC6_ENST00000542458.1_Missense_Mutation_p.L461F	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6	1091					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GGTCATCTTTCAAAGGATCAC	0.393000								Direct reversal of damage;Nucleotide excision repair (NER)					10	78					0	0	1	0	0
PRPF40A	55660	broad.mit.edu	37	2	153537793	153537793	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr2:153537793C>G	ENST00000410080.1	-	6	944	c.403G>C	c.(403-405)Gaa>Caa	p.E135Q		NM_017892.3	NP_060362.3	O75400	PR40A_HUMAN	PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae)	162					mRNA processing|RNA splicing	nuclear matrix|nuclear speck	protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|urinary_tract(1)	21						TGTTTGGTTTCAGTGTTGTAG	0.373000													7	74					0	0	1	0	0
PARP4	143	broad.mit.edu	37	13	25029183	25029183	+	Silent	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr13:25029183C>T	ENST00000381989.3	-	22	2835	c.2730G>A	c.(2728-2730)caG>caA	p.Q910Q		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	910	VWFA.				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		TATTTACTTTCTGCTTCTCAC	0.498000													42	134					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7585226	7585226	+	Silent	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr6:7585226C>G	ENST00000379802.3	+	24	8072	c.7731C>G	c.(7729-7731)gtC>gtG	p.V2577V	DSP_ENST00000418664.2_Silent_p.V1978V	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2577	Globular 2.				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)		GCAGTGGTGTCAGCGATGATG	0.478000													21	37					0	0	1	0	0
TBX4	9496	broad.mit.edu	37	17	59557476	59557476	+	Missense_Mutation	SNP	A	A	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr17:59557476A>T	ENST00000393853.4	+	8	980	c.817A>T	c.(817-819)Agc>Tgc	p.S273C	TBX4_ENST00000240335.1_Missense_Mutation_p.S273C|TBX4_ENST00000589449.1_3'UTR			P57082	TBX4_HUMAN	T-box 4	273					leg morphogenesis|skeletal system morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						GATTTCCAAAAGCATCATGAG	0.602000													16	45					0	0	1	0	0
WRAP53	55135	broad.mit.edu	37	17	7592102	7592102	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr17:7592102G>T	ENST00000316024.5	+	1	2484	c.136G>T	c.(136-138)Gaa>Taa	p.E46*	WRAP53_ENST00000534050.1_Nonsense_Mutation_p.E46*|WRAP53_ENST00000396463.2_Nonsense_Mutation_p.E46*|WRAP53_ENST00000431639.2_Nonsense_Mutation_p.E46*|WRAP53_ENST00000457584.2_Nonsense_Mutation_p.E46*			Q9BUR4	WAP53_HUMAN	WD repeat containing, antisense to TP53	46	Pro-rich.				positive regulation of telomerase activity|telomere formation via telomerase	Cajal body|cytoplasm|telomerase holoenzyme complex	protein binding|RNA binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2)	18						ACCGCCTCCCGAAAGGGGGGA	0.622000													13	38					4.7546e-09	4.99907e-09	1	1	0
UBR1	197131	broad.mit.edu	37	15	43328411	43328411	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr15:43328411C>A	ENST00000290650.4	-	19	2233	c.2155G>T	c.(2155-2157)Gag>Tag	p.E719*	UBR1_ENST00000382177.2_Nonsense_Mutation_p.E719*	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	719					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		TTAAAAGCCTCGGCAAGTTCA	0.328000													31	87					1.90571e-15	2.04227e-15	1	1	0
XPR1	9213	broad.mit.edu	37	1	180849374	180849374	+	Silent	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr1:180849374G>A	ENST00000367590.4	+	14	2169	c.1971G>A	c.(1969-1971)aaG>aaA	p.K657K	XPR1_ENST00000367589.3_Silent_p.K592K	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	657						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						ACCGCCAGAAGAATCGGTCAT	0.532000													6	28					0	0	1	0	0
RUNX1	861	broad.mit.edu	37	21	36259161	36259161	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr21:36259161C>G	ENST00000344691.4	-	1	1826	c.249G>C	c.(247-249)aaG>aaC	p.K83N	RUNX1_ENST00000437180.1_Missense_Mutation_p.K110N|RUNX1_ENST00000486278.2_Missense_Mutation_p.K86N|RUNX1_ENST00000300305.3_Missense_Mutation_p.K110N|RUNX1_ENST00000399240.1_Missense_Mutation_p.K83N|RUNX1_ENST00000325074.5_Missense_Mutation_p.K98N|RUNX1_ENST00000358356.5_Missense_Mutation_p.K83N	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN	runt-related transcription factor 1	83	Interaction with DNA.|Runt.				myeloid cell differentiation|negative regulation of granulocyte differentiation|positive regulation of angiogenesis|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|calcium ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.K110N(2)|p.V90_K117del(1)		breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						TGGGCAGGGTCTTGTTGCAGC	0.706000			T	"""RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4"""	"""AML, preB- ALL, T-ALL"""								5	19					0	0	1	0	0
SUGP2	10147	broad.mit.edu	37	19	19136127	19136127	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr19:19136127C>T	ENST00000601879.1	-	3	1327	c.1030G>A	c.(1030-1032)Gat>Aat	p.D344N	SUGP2_ENST00000600377.1_Missense_Mutation_p.D358N|SUGP2_ENST00000337018.6_Missense_Mutation_p.D344N|SUGP2_ENST00000456085.2_Missense_Mutation_p.D113N|SUGP2_ENST00000452918.2_Missense_Mutation_p.D344N			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	344					mRNA processing|RNA splicing	nucleus	RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						AATTTAATATCATCTTTTATG	0.348000													19	54					0	0	1	0	0
KDM4C	23081	broad.mit.edu	37	9	7011802	7011802	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr9:7011802G>C	ENST00000381309.3	+	13	2456	c.1891G>C	c.(1891-1893)Gag>Cag	p.E631Q	KDM4C_ENST00000381306.3_Missense_Mutation_p.E631Q|KDM4C_ENST00000536108.1_Missense_Mutation_p.E450Q|KDM4C_ENST00000543771.1_Missense_Mutation_p.E631Q|KDM4C_ENST00000428870.2_Missense_Mutation_p.E318Q|KDM4C_ENST00000535193.1_Missense_Mutation_p.E653Q|KDM4C_ENST00000442236.2_Missense_Mutation_p.E376Q	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	631					positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						CTTCGCAGCTGAGCAAGAGTA	0.517000													7	24					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25330540	25330540	+	RNA	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr15:25330540G>A	ENST00000546682.1	+	0	453				SNHG14_ENST00000553108.1_RNA|SNORD116-18_ENST00000383961.1_RNA|SNHG14_ENST00000549804.2_RNA	NR_003361.1																						CTGGATCGATGATGACTTCCT	0.453000													42	157					0	0	1	0	0
NDNL2	56160	broad.mit.edu	37	15	29561277	29561277	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr15:29561277C>G	ENST00000332303.4	-	1	756	c.633G>C	c.(631-633)aaG>aaC	p.K211N	FAM189A1_ENST00000261275.4_Intron	NM_138704.3	NP_619649.1	Q96MG7	MAGG1_HUMAN	necdin-like 2	211	MAGE.				regulation of growth	cytoplasm|nucleus				breast(3)|large_intestine(2)|lung(3)	8		all_lung(180;4.69e-11)|Breast(32;0.0013)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00736)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		TTAAATGCTTCTTGGTGGGGT	0.512000													12	59					0	0	1	0	0
GPRC5C	55890	broad.mit.edu	37	17	72436908	72436908	+	Silent	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr17:72436908G>A	ENST00000392627.1	+	2	2254	c.1128G>A	c.(1126-1128)caG>caA	p.Q376Q	GPRC5C_ENST00000342648.5_Silent_p.Q16Q|GPRC5C_ENST00000481232.1_Intron|GPRC5C_ENST00000392629.2_Silent_p.Q343Q	NM_022036.2	NP_071319.2	Q9NQ84	GPC5C_HUMAN	G protein-coupled receptor, family C, group 5, member C	331						cytoplasmic vesicle membrane|integral to plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						TGAAAGAGCAGAAGGGTCAGA	0.602000													4	29					0	0	1	0	0
DCUN1D5	84259	broad.mit.edu	37	11	102937215	102937215	+	Silent	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr11:102937215G>A	ENST00000260247.5	-	5	765	c.423C>T	c.(421-423)atC>atT	p.I141I	DCUN1D5_ENST00000531543.1_Silent_p.I56I	NM_032299.3	NP_115675.1	Q9BTE7	DCNL5_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 5	141	DCUN1.									NS(1)|central_nervous_system(1)|endometrium(2)	4		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.00032)|Epithelial(105;0.0689)|all cancers(92;0.186)		CATATCTGTAGATATTCTTAA	0.313000													8	34					0	0	1	0	0
PRSS8	5652	broad.mit.edu	37	16	31143399	31143399	+	Silent	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr16:31143399C>T	ENST00000317508.6	-	6	1226	c.963G>A	c.(961-963)ctG>ctA	p.L321L	PRSS8_ENST00000568261.1_Silent_p.L267L	NM_002773.3	NP_002764.1	Q16651	PRSS8_HUMAN	protease, serine, 8	321					proteolysis	extracellular space|integral to membrane|plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)	8						GGATGGGCCTCAGCAAGCCCT	0.652000													3	5					0	0	1	0	0
WDR90	197335	broad.mit.edu	37	16	700265	700265	+	Silent	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr16:700265C>T	ENST00000549091.1	+	4	383	c.291C>T	c.(289-291)gtC>gtT	p.V97V	WDR90_ENST00000293879.4_Silent_p.V97V	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN	WD repeat domain 90	97										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				ACAACCAAGTCATCCGTGTGT	0.642000													44	186					0	0	1	0	0
CD2BP2	10421	broad.mit.edu	37	16	30364593	30364593	+	Missense_Mutation	SNP	C	C	T	rs148468793		TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr16:30364593C>T	ENST00000305596.3	-	6	999	c.824G>A	c.(823-825)gGa>gAa	p.G275E	CD2BP2_ENST00000569466.1_Missense_Mutation_p.G275E	NM_006110.2	NP_006101.1	O95400	CD2B2_HUMAN	CD2 (cytoplasmic tail) binding protein 2	275					assembly of spliceosomal tri-snRNP	cytoplasm|nucleoplasm|U5 snRNP	protein binding|ribonucleoprotein binding			breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	15						CAGACCATCTCCCCGCGACTC	0.572000													5	55					0	0	1	0	0
MICALCL	84953	broad.mit.edu	37	11	12379954	12379954	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr11:12379954C>G	ENST00000256186.2	+	9	2307	c.2016C>G	c.(2014-2016)atC>atG	p.I672M		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	672					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		AACAACGCATCAGAGAAAAAG	0.502000													29	131					0	0	1	0	0
E2F3	1871	broad.mit.edu	37	6	20402595	20402595	+	Silent	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr6:20402595C>T	ENST00000346618.3	+	1	198	c.132C>T	c.(130-132)ttC>ttT	p.F44F		NM_001949.4	NP_001940.1	O00716	E2F3_HUMAN	E2F transcription factor 3	44					G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)			GCCCCGGCTTcgccgccgccg	0.721000													5	14					0	0	1	0	0
PIGW	284098	broad.mit.edu	37	17	34893414	34893414	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr17:34893414G>A	ENST00000592983.1	+	2	1044	c.464G>A	c.(463-465)aGa>aAa	p.R155K	MYO19_ENST00000590081.1_Intron|PIGW_ENST00000328396.2_Missense_Mutation_p.R155K			Q7Z7B1	PIGW_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class W	155					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	O-acyltransferase activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TTTCCCAGAAGATTTGCCAAA	0.448000													32	106					0	0	1	0	0
NLGN4Y	22829	broad.mit.edu	37	Y	16734319	16734319	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chrY:16734319C>T	ENST00000297967.5	+	1	419	c.320C>T	c.(319-321)tCt>tTt	p.S107F	NLGN4Y_ENST00000476359.1_3'UTR	NM_001164238.1	NP_001157710.1	Q8NFZ3	NLGNY_HUMAN	neuroligin 4, Y-linked	107					brainstem development|cell adhesion|cerebellum development|male courtship behavior|positive regulation of organ growth|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|integral to plasma membrane|synapse	neurexin binding|receptor activity			large_intestine(3)|lung(7)|prostate(2)|skin(2)	14						ACTCAGTTTTCTGCTGTGTGC	0.512000													17	20					0	0	1	0	0
CHRDL1	91851	broad.mit.edu	37	X	109964677	109964677	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chrX:109964677A>G	ENST00000218054.4	-	5	576	c.380T>C	c.(379-381)cTg>cCg	p.L127P	CHRDL1_ENST00000394797.4_Missense_Mutation_p.L127P|CHRDL1_ENST00000482160.1_Intron|CHRDL1_ENST00000434224.1_Intron|CHRDL1_ENST00000372045.1_Missense_Mutation_p.L121P|CHRDL1_ENST00000444321.2_Missense_Mutation_p.L127P|CHRDL1_ENST00000372042.1_Missense_Mutation_p.L128P	NM_001143981.1|NM_001143982.1|NM_145234.3	NP_001137453.1|NP_001137454.1|NP_660277.2	Q9BU40	CRDL1_HUMAN	chordin-like 1	121	VWFC 2.				BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region				endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						AGCTACGAACAGCTCTCCATG	0.493000													100	75					0	0	1	0	0
TRIM13	10206	broad.mit.edu	37	13	50587172	50587172	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr13:50587172G>C	ENST00000378182.3	+	2	1834	c.1096G>C	c.(1096-1098)Gaa>Caa	p.E366Q	TRIM13_ENST00000298772.5_Missense_Mutation_p.E369Q|TRIM13_ENST00000478111.1_Intron|TRIM13_ENST00000420995.2_Missense_Mutation_p.E366Q|TRIM13_ENST00000356017.4_Missense_Mutation_p.E369Q|TRIM13_ENST00000457662.2_Missense_Mutation_p.E366Q	NM_001007278.1|NM_005798.3|NM_052811.2|NM_213590.1	NP_001007279.1|NP_005789.2|NP_434698.1|NP_998755.1	O60858	TRI13_HUMAN	tripartite motif containing 13	366					anatomical structure morphogenesis|ER-associated protein catabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination	cytoplasm|endoplasmic reticulum membrane|integral to membrane	protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(5)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.53e-10)|COAD - Colon adenocarcinoma(199;0.205)		CGATTTCATAGAACAATCAGT	0.373000													17	85					0	0	1	0	0
ITLN1	55600	broad.mit.edu	37	1	160846471	160846471	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr1:160846471G>A	ENST00000326245.3	-	8	1040	c.925C>T	c.(925-927)Ctt>Ttt	p.L309F		NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	intelectin 1 (galactofuranose binding)	309					positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TAGAATAGAAGCACAGCTGCC	0.483000													9	49					0	0	1	0	0
SOGA3	387104	broad.mit.edu	37	6	127797104	127797104	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr6:127797104G>C	ENST00000556132.1	-	6	2931	c.2067C>G	c.(2065-2067)agC>agG	p.S689R	SOGA3_ENST00000368268.2_Missense_Mutation_p.S689R|SOGA3_ENST00000525778.1_Missense_Mutation_p.S689R|SOGA3_ENST00000465909.2_Missense_Mutation_p.S689R|SOGA3_ENST00000481848.2_Missense_Mutation_p.S689R	NM_001012279.2	NP_001012279.1	Q5TF21	CF174_HUMAN	SOGA family member 3	689						integral to membrane											GGTGCCGCGCGCTGTCGTGGC	0.657000													12	51					0	0	1	0	0
PABPC4	8761	broad.mit.edu	37	1	40029381	40029381	+	Missense_Mutation	SNP	G	G	A	rs141523814		TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr1:40029381G>A	ENST00000372857.3	-	12	2317	c.1525C>T	c.(1525-1527)Cgc>Tgc	p.R509C	PABPC4_ENST00000372856.3_Missense_Mutation_p.R496C|PABPC4_ENST00000372862.3_Missense_Mutation_p.R480C|PABPC4_ENST00000372858.3_Missense_Mutation_p.R525C	NM_003819.3	NP_003810.1	Q13310	PABP4_HUMAN	poly(A) binding protein, cytoplasmic 4 (inducible form)	509					blood coagulation|RNA catabolic process|RNA processing|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			ACAGCAGCGCGTGGCGCTAAG	0.562000													17	36					0	0	1	0	0
OR8K3	219473	broad.mit.edu	37	11	56086432	56086432	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr11:56086432C>G	ENST00000312711.1	+	1	650	c.650C>G	c.(649-651)tCt>tGt	p.S217C		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					GTTCTTTTATCTTACCTGCTC	0.383000													11	39					0	0	1	0	0
CDC42BPG	55561	broad.mit.edu	37	11	64597049	64597049	+	Silent	SNP	G	G	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr11:64597049G>T	ENST00000342711.5	-	30	3860	c.3861C>A	c.(3859-3861)ctC>ctA	p.L1287L		NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	1287	CNH.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						GGAACTCGCTGAGGCTAAGCT	0.677000													5	9					5.9392e-07	6.16692e-07	1	1	0
DHX15	1665	broad.mit.edu	37	4	24578092	24578092	+	Nonsense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr4:24578092G>C	ENST00000336812.4	-	2	437	c.281C>G	c.(280-282)tCa>tGa	p.S94*		NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 15	94					mRNA processing	U12-type spliceosomal complex	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30		Breast(46;0.0503)				AGAATGTGTTGAATGCGTTGA	0.473000													13	60					0	0	1	0	0
CCIN	881	broad.mit.edu	37	9	36170156	36170156	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr9:36170156C>G	ENST00000335119.2	+	1	768	c.657C>G	c.(655-657)ttC>ttG	p.F219L		NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	calicin	219	BACK.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			TCAAGAAGTTCTTCAATTACA	0.478000													8	36					0	0	1	0	0
SOCS6	9306	broad.mit.edu	37	18	67992188	67992188	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr18:67992188C>T	ENST00000397942.3	+	2	600	c.284C>T	c.(283-285)tCt>tTt	p.S95F	SOCS6_ENST00000582322.1_Missense_Mutation_p.S95F	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	95					defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth	cytoplasm				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				GGCACACCCTCTGGGAGCTCT	0.542000													9	54					0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13476246	13476246	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr19:13476246C>T	ENST00000360228.5	-	5	668	c.669G>A	c.(667-669)atG>atA	p.M223I	CACNA1A_ENST00000573710.2_Missense_Mutation_p.M223I	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	223					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	GCAAAGGGATCATCGCCTTCA	0.478000													4	21					0	0	1	0	0
PTPRS	5802	broad.mit.edu	37	19	5244386	5244386	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr19:5244386C>T	ENST00000372412.4	-	11	1332	c.1099G>A	c.(1099-1101)Gaa>Aaa	p.E367K	PTPRS_ENST00000587303.1_Missense_Mutation_p.E366K|PTPRS_ENST00000262963.6_Missense_Mutation_p.E362K|PTPRS_ENST00000348075.2_Missense_Mutation_p.E353K|PTPRS_ENST00000588012.1_Missense_Mutation_p.E353K|PTPRS_ENST00000357368.4_Missense_Mutation_p.E366K|PTPRS_ENST00000592099.1_Missense_Mutation_p.E353K|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000353284.2_Missense_Mutation_p.E353K			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	366	Fibronectin type-III 1.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		GATTTATATTCGATGACGTAA	0.547000													12	36					0	0	1	0	0
SIM2	6493	broad.mit.edu	37	21	38084900	38084900	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr21:38084900C>T	ENST00000290399.6	+	3	939	c.326C>T	c.(325-327)tCt>tTt	p.S109F	SIM2_ENST00000430056.3_Missense_Mutation_p.S109F	NM_005069.3	NP_005060.1	Q14190	SIM2_HUMAN	single-minded family bHLH transcription factor 2	109	PAS 1.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						GAGACCGCTTCTGTCCATTTA	0.388000													15	43					0	0	1	0	0
ZNF423	23090	broad.mit.edu	37	16	49660127	49660127	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr16:49660127G>C	ENST00000561648.1	-	5	3584	c.3531C>G	c.(3529-3531)ttC>ttG	p.F1177L	ZNF423_ENST00000563137.2_Missense_Mutation_p.F1117L|ZNF423_ENST00000262383.2_Missense_Mutation_p.F1177L|ZNF423_ENST00000562871.1_Missense_Mutation_p.F1117L|ZNF423_ENST00000567169.1_Missense_Mutation_p.F1060L|ZNF423_ENST00000562520.1_Missense_Mutation_p.F1117L|ZNF423_ENST00000535559.1_Missense_Mutation_p.F1060L	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	1177					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				TCTCGTTCTCGAAGGTCATCT	0.433000													22	78					0	0	1	0	0
FBXO22	26263	broad.mit.edu	37	15	76222343	76222343	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr15:76222343C>G	ENST00000308275.3	+	6	852	c.747C>G	c.(745-747)atC>atG	p.I249M	FBXO22_ENST00000453211.2_Missense_Mutation_p.I249M|FBXO22_ENST00000540507.1_Missense_Mutation_p.I145M	NM_147188.2	NP_671717.1	Q8NEZ5	FBX22_HUMAN	F-box protein 22	249					ubiquitin-dependent protein catabolic process		ubiquitin-protein ligase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						TGAATATCATCTTGGCTGGAG	0.438000													15	81					0	0	1	0	0
MYO1A	4640	broad.mit.edu	37	12	57441141	57441141	+	Missense_Mutation	SNP	C	C	T	rs151045364	byFrequency	TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr12:57441141C>T	ENST00000442789.2	-	6	663	c.376G>A	c.(376-378)Gag>Aag	p.E126K	MYO1A_ENST00000300119.3_Missense_Mutation_p.E126K|MYO1A_ENST00000544473.1_5'UTR	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	126	Myosin head-like.				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						TTCACCTGCTCTCCTTTCCCA	0.577000													21	53					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7583545	7583545	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr6:7583545C>T	ENST00000379802.3	+	24	6391	c.6050C>T	c.(6049-6051)tCt>tTt	p.S2017F	DSP_ENST00000418664.2_Missense_Mutation_p.S1418F	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2017	Globular 2.				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)		GGTGCAGGATCTATCGCTGGA	0.458000													7	28					0	0	1	0	0
NAP1L4	4676	broad.mit.edu	37	11	2979642	2979642	+	Silent	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr11:2979642G>A	ENST00000380542.4	-	10	1019	c.879C>T	c.(877-879)ttC>ttT	p.F293F	NAP1L4_ENST00000526115.1_Silent_p.F293F	NM_005969.3	NP_005960.1	Q99733	NP1L4_HUMAN	nucleosome assembly protein 1-like 4	293					nucleosome assembly	chromatin assembly complex|cytoplasm	unfolded protein binding			endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)	13		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00301)|LUSC - Lung squamous cell carcinoma(625;0.211)		TCAATGGATTGAAGAAGTTGA	0.348000													9	46					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179593656	179593656	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr2:179593656G>A	ENST00000589042.1	-	65	19333	c.19109C>T	c.(19108-19110)tCa>tTa	p.S6370L	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.S6053L|TTN_ENST00000342992.6_Missense_Mutation_p.S5126L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6053	Ig-like 45.						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)			CTCAACTCCTGACTCATTCTT	0.383000													6	10					0	0	1	0	0
UGGT2	55757	broad.mit.edu	37	13	96642272	96642272	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr13:96642272C>G	ENST00000376747.3	-	8	956	c.886G>C	c.(886-888)Gag>Cag	p.E296Q	UGGT2_ENST00000397618.3_Missense_Mutation_p.E296Q|UGGT2_ENST00000467305.1_5'UTR|UGGT2_ENST00000376714.3_Intron	NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	296					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						TTGTTACTCTCAATCAGGTAT	0.323000													16	86					0	0	1	0	0
MVP	9961	broad.mit.edu	37	16	29857244	29857244	+	Silent	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr16:29857244G>C	ENST00000357402.5	+	12	2220	c.2082G>C	c.(2080-2082)ctG>ctC	p.L694L	MVP_ENST00000395353.1_Silent_p.L694L	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	694					mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						AGAAGATCCTGGACCAGTCAG	0.632000													18	60					0	0	1	0	0
CCDC83	220047	broad.mit.edu	37	11	85593598	85593598	+	Silent	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr11:85593598C>T	ENST00000280245.4	+	4	735	c.223C>T	c.(223-225)Cta>Tta	p.L75L	CCDC83_ENST00000529676.2_Intron|CCDC83_ENST00000342404.3_Silent_p.L75L|CCDC83_ENST00000376067.1_Silent_p.L32L	NM_173556.3	NP_775827.2	Q8IWF9	CCD83_HUMAN	coiled-coil domain containing 83	75										breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				CATACGGCATCTACTAAAGGA	0.393000													19	43					0	0	1	0	0
IPO7	10527	broad.mit.edu	37	11	9450095	9450095	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr11:9450095C>G	ENST00000379719.3	+	13	1486	c.1344C>G	c.(1342-1344)atC>atG	p.I448M		NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	448					interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		AGAAAAAGATCTATAAAGATC	0.308000													3	17					0	0	1	0	0
AASS	10157	broad.mit.edu	37	7	121773665	121773665	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr7:121773665C>T	ENST00000393376.1	-	1	211	c.116G>A	c.(115-117)aGg>aAg	p.R39K	AASS_ENST00000417368.2_Missense_Mutation_p.R39K|AASS_ENST00000473553.1_Intron			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	39	Lysine-ketoglutarate reductase.				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54					L-Glutamic Acid(DB00142)|NADH(DB00157)	TAGCGGGGCCCTTCTCTCCCA	0.577000													11	45					0	0	1	0	0
NXPE1	120400	broad.mit.edu	37	11	114401604	114401604	+	Silent	SNP	G	G	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr11:114401604G>T	ENST00000536312.1	-	6	1018	c.126C>A	c.(124-126)atC>atA	p.I42I	NXPE1_ENST00000424269.1_Silent_p.I42I|NXPE1_ENST00000251921.2_5'UTR					neurexophilin and PC-esterase domain family, member 1																		AATGGACAGAGATGGATAAGT	0.343000													7	28					2.7689e-08	2.89909e-08	1	1	0
ZNF592	9640	broad.mit.edu	37	15	85327787	85327787	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr15:85327787C>G	ENST00000299927.3	+	1	1903	c.1881C>G	c.(1879-1881)ttC>ttG	p.F627L	ZNF592_ENST00000560079.2_Missense_Mutation_p.F627L			Q92610	ZN592_HUMAN	zinc finger protein 592	627					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TGCTCTTCTTCAACAAGTGCA	0.582000													16	53					0	0	1	0	0
BRD9	65980	broad.mit.edu	37	5	887482	887482	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr5:887482C>T	ENST00000323510.4	-	3	362	c.363G>A	c.(361-363)atG>atA	p.M121I	BRD9_ENST00000483173.1_Missense_Mutation_p.M184I|BRD9_ENST00000388890.4_Missense_Mutation_p.M121I|BRD9_ENST00000467963.1_Missense_Mutation_p.M237I|BRD9_ENST00000435709.2_Missense_Mutation_p.M121I			Q9H8M2	BRD9_HUMAN	bromodomain containing 9	237							nucleic acid binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			TTACTTTGCTCATCATCTTAA	0.507000													17	67					0	0	1	0	0
ACBD6	84320	broad.mit.edu	37	1	180461406	180461406	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr1:180461406G>C	ENST00000367595.3	-	3	1069	c.382C>G	c.(382-384)Cag>Gag	p.Q128E		NM_032360.3	NP_115736.1	Q9BR61	ACBD6_HUMAN	acyl-CoA binding domain containing 6	128						cytoplasm|nucleus	fatty-acyl-CoA binding		ACBD6/RRP15(2)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	7						AGTCTTACCTGAGGATTCCAA	0.343000													13	34					0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133540510	133540510	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr2:133540510C>A	ENST00000409261.1	-	14	4247	c.3874G>T	c.(3874-3876)Gaa>Taa	p.E1292*	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Nonsense_Mutation_p.E1292*|NCKAP5_ENST00000405974.3_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1292							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						CCTGACCCTTCGATGGGGGGC	0.542000													13	49					3.27435e-08	3.42474e-08	1	1	0
ARHGAP9	64333	broad.mit.edu	37	12	57872945	57872945	+	Missense_Mutation	SNP	T	T	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr12:57872945T>A	ENST00000393797.2	-	5	650	c.458A>T	c.(457-459)tAt>tTt	p.Y153F	ARHGAP9_ENST00000550288.1_Missense_Mutation_p.Y161F|ARHGAP9_ENST00000356411.2_Missense_Mutation_p.Y82F|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.Y82F|ARHGAP9_ENST00000424809.2_Missense_Mutation_p.Y82F			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	82					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			CTCTATCATATAGGCTGCTGG	0.552000													21	50					0	0	1	0	0
SKIV2L2	23517	broad.mit.edu	37	5	54649077	54649077	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr5:54649077G>C	ENST00000230640.5	+	14	1767	c.1513G>C	c.(1513-1515)Gat>Cat	p.D505H	SKIV2L2_ENST00000545714.1_Missense_Mutation_p.D404H	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	505	Helicase C-terminal.				maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				CCGCAAATTTGATGGGAAGGA	0.338000													19	62					0	0	1	0	0
EIF2S1	1965	broad.mit.edu	37	14	67849272	67849272	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr14:67849272G>C	ENST00000256383.4	+	7	1248	c.787G>C	c.(787-789)Gag>Cag	p.E263Q	EIF2S1_ENST00000466499.2_Missense_Mutation_p.E263Q	NM_004094.4	NP_004085.1	P05198	IF2A_HUMAN	eukaryotic translation initiation factor 2, subunit 1 alpha, 35kDa	263						cytosol|eukaryotic translation initiation factor 2 complex|polysome|stress granule	protein binding|ribosome binding|translation initiation factor activity			breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9				all cancers(60;0.000683)|OV - Ovarian serous cystadenocarcinoma(108;0.00579)|BRCA - Breast invasive adenocarcinoma(234;0.00937)		AGAGAAGATTGAGGAAAAGAG	0.413000													12	58					0	0	1	0	0
ABCD3	5825	broad.mit.edu	37	1	94884133	94884133	+	Silent	SNP	C	C	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr1:94884133C>A	ENST00000370214.4	+	1	123	c.99C>A	c.(97-99)ctC>ctA	p.L33L	ABCD3_ENST00000394233.2_Silent_p.L33L|ABCD3_ENST00000315713.5_Silent_p.L33L|ABCD3_ENST00000454898.2_Silent_p.L33L|ABCD3_ENST00000536817.1_5'UTR	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D (ALD), member 3	33	Interaction with PEX19.|Targeting to peroxisomes.				peroxisomal long-chain fatty acid import|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		GCCGCGCCCTCGGCCTGCACG	0.701000													3	5					0.115264	0.115726	1	1	0
OR5D14	219436	broad.mit.edu	37	11	55563034	55563034	+	Translation_Start_Site	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr11:55563034G>A	ENST00000335605.1	+	1	3	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	1					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				AAGGAATTATGATGATGGTTT	0.388000													15	63					0	0	1	0	0
TESPA1	9840	broad.mit.edu	37	12	55356535	55356535	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr12:55356535C>G	ENST00000524622.1	-	7	1394	c.733G>C	c.(733-735)Gat>Cat	p.D245H	TESPA1_ENST00000532804.1_Missense_Mutation_p.D245H|TESPA1_ENST00000316577.8_Missense_Mutation_p.D383H|TESPA1_ENST00000531122.1_Missense_Mutation_p.D245H|TESPA1_ENST00000449076.1_Missense_Mutation_p.D383H	NM_001261844.1|NM_014796.2	NP_001248773.1|NP_055611.1	A2RU30	K0748_HUMAN	thymocyte expressed, positive selection associated 1	383																	GGGTTCGAATCCAGAGTTTGG	0.512000													8	41					0	0	1	0	0
SFI1	9814	broad.mit.edu	37	22	31957369	31957369	+	Silent	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr22:31957369C>G	ENST00000432498.1	+	8	1149	c.756C>G	c.(754-756)ctC>ctG	p.L252L	SFI1_ENST00000400289.1_Silent_p.L170L|SFI1_ENST00000414585.1_Silent_p.L99L|SFI1_ENST00000400288.2_Silent_p.L252L|SFI1_ENST00000540643.1_Silent_p.L228L|SFI1_ENST00000443326.1_Silent_p.L170L|SFI1_ENST00000443011.1_Silent_p.L99L	NM_014775.3	NP_055590.2	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	252					G2/M transition of mitotic cell cycle	centriole|cytosol				NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						CCCTGAGCCTCCAGGTGCAGG	0.617000											OREG0026480	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	17					0	0	1	0	0
EIF4E2	9470	broad.mit.edu	37	2	233422658	233422658	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr2:233422658G>C	ENST00000409514.1	+	3	242	c.200G>C	c.(199-201)aGa>aCa	p.R67T	EIF4E2_ENST00000409098.1_Missense_Mutation_p.R67T|EIF4E2_ENST00000409167.3_Intron|EIF4E2_ENST00000258416.3_Missense_Mutation_p.R67T|EIF4E2_ENST00000409394.1_Intron|EIF4E2_ENST00000409495.1_Missense_Mutation_p.R67T|EIF4E2_ENST00000409322.1_Intron	NM_001282958.1	NP_001269887.1	O60573	IF4E2_HUMAN	eukaryotic translation initiation factor 4E family member 2	67					regulation of translation	cytoplasm|mRNA cap binding complex	RNA cap binding|translation initiation factor activity|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;2.3e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000912)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TACTCCAGGAGAACCCCCGGC	0.512000													14	41					0	0	1	0	0
PCID2	55795	broad.mit.edu	37	13	113834355	113834355	+	Splice_Site	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr13:113834355C>T	ENST00000375457.2	-	12	1452	c.856G>A	c.(856-858)Gag>Aag	p.E286K	PCID2_ENST00000375459.1_Splice_Site_p.E286K|PCID2_ENST00000493650.1_5'UTR|PCID2_ENST00000375477.1_Splice_Site_p.E288K|PCID2_ENST00000246505.5_Splice_Site_p.E342K|PCID2_ENST00000337344.4_Splice_Site_p.E288K|PCID2_ENST00000375479.2_Splice_Site_p.E288K	NM_001258213.1	NP_001245142.1	Q5JVF3	PCID2_HUMAN	PCI domain containing 2	288	PCI.				negative regulation of apoptosis|negative regulation of cysteine-type endopeptidase activity|positive regulation of mitotic cell cycle spindle assembly checkpoint|positive regulation of transcription, DNA-dependent|regulation of mRNA stability|spleen development		protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)	20	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	all cancers(43;0.104)			AGGTTGCCCTCGCTGGTGAGG	0.562000													8	20					0	0	1	0	0
AOAH	313	broad.mit.edu	37	7	36662829	36662829	+	Silent	SNP	T	T	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr7:36662829T>C	ENST00000431169.1	-	7	849	c.549A>G	c.(547-549)aaA>aaG	p.K183K	AOAH_ENST00000258749.5_Silent_p.K183K|AOAH_ENST00000535891.1_Silent_p.K151K	NM_001177506.1	NP_001170977.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	183					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						AATCCACATCTTTGAATGGCA	0.363000													6	35					0	0	1	0	0
METTL12	751071	broad.mit.edu	37	11	62434236	62434236	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr11:62434236C>G	ENST00000532971.1	+	3	693	c.436C>G	c.(436-438)Cag>Gag	p.Q146E	C11orf48_ENST00000532208.1_Intron|METTL12_ENST00000398922.2_3'UTR|C11orf48_ENST00000431002.2_Intron|C11orf48_ENST00000354588.3_Intron	NM_001043229.1	NP_001036694.1	A8MUP2	MTL12_HUMAN	methyltransferase like 12	146						mitochondrion	methyltransferase activity			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	6						CGCCGATGCTCAGAACCTGGG	0.597000													9	29					0	0	1	0	0
ACACB	32	broad.mit.edu	37	12	109677668	109677668	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr12:109677668G>A	ENST00000338432.7	+	35	4815	c.4696G>A	c.(4696-4698)Gag>Aag	p.E1566K	ACACB_ENST00000377854.5_Missense_Mutation_p.E1496K|ACACB_ENST00000543201.1_Missense_Mutation_p.E232K|ACACB_ENST00000377848.3_Missense_Mutation_p.E1566K			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1566					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	GAACGAGGGTGAGCGGCTGCT	0.617000													5	18					0	0	1	0	0
KLK10	5655	broad.mit.edu	37	19	51520466	51520466	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr19:51520466G>A	ENST00000309958.3	-	3	387	c.169C>T	c.(169-171)Cag>Tag	p.Q57*	KLK10_ENST00000358789.3_Nonsense_Mutation_p.Q57*|KLK10_ENST00000391805.1_Nonsense_Mutation_p.Q57*	NM_002776.4	NP_002767.2	O43240	KLK10_HUMAN	kallikrein-related peptidase 10	57	Peptidase S1.				cell cycle|proteolysis	extracellular region	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885)		TGCCAGGGCTGCGAGCCGCGC	0.677000											OREG0025646	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	6					0	0	1	0	0
NRG4	145957	broad.mit.edu	37	15	76301591	76301591	+	Silent	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr15:76301591C>G	ENST00000394907.3	-	3	235	c.54G>C	c.(52-54)ctG>ctC	p.L18L	NRG4_ENST00000535975.1_Silent_p.L18L|NRG4_ENST00000305435.10_Silent_p.L18L	NM_138573.3	NP_612640.1	Q8WWG1	NRG4_HUMAN	neuregulin 4	18	EGF-like.					extracellular region|integral to membrane|plasma membrane	growth factor activity			large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	5						GCCCCCCATTCAGGCAAAACG	0.383000													13	50					0	0	1	0	0
LRTOMT	220074	broad.mit.edu	37	11	71806017	71806017	+	Silent	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr11:71806017G>C	ENST00000324866.7	+	5	478	c.312G>C	c.(310-312)ctG>ctC	p.L104L	LAMTOR1_ENST00000545249.1_Intron|LRTOMT_ENST00000538478.1_Silent_p.L104L|LRTOMT_ENST00000439209.1_Silent_p.L104L|LRTOMT_ENST00000536917.1_Silent_p.L104L|LRTOMT_ENST00000307198.7_5'UTR|LRTOMT_ENST00000289488.2_Silent_p.L104L|LRTOMT_ENST00000539271.1_5'UTR|LRTOMT_ENST00000541614.1_Silent_p.L104L|LRTOMT_ENST00000539587.1_5'UTR|LAMTOR1_ENST00000535107.1_Intron|LRTOMT_ENST00000419228.1_5'UTR|LRTOMT_ENST00000447974.1_Silent_p.L104L|LRTOMT_ENST00000435085.1_5'UTR|LRTOMT_ENST00000423494.2_Silent_p.L86L			Q96E66	LRC51_HUMAN	leucine rich transmembrane and O-methyltransferase domain containing	104						cytoplasm				large_intestine(2)|lung(1)|ovary(1)	4						TCTTCAACCTGAGTGTCCTCT	0.567000													8	65					0	0	1	0	0
KIF24	347240	broad.mit.edu	37	9	34257704	34257704	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr9:34257704C>G	ENST00000379166.2	-	11	2020	c.1901G>C	c.(1900-1902)aGa>aCa	p.R634T	KIF24_ENST00000402558.2_Missense_Mutation_p.R634T|KIF24_ENST00000345050.2_Missense_Mutation_p.R500T|KIF24_ENST00000379174.3_Missense_Mutation_p.R500T	NM_194313.2	NP_919289.2	Q5T7B8	KIF24_HUMAN	kinesin family member 24	634					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			AGGACTCCCTCTGGAGCCACC	0.532000													9	28					0	0	1	0	0
UBXN2A	165324	broad.mit.edu	37	2	24222660	24222660	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr2:24222660G>C	ENST00000309033.4	+	7	947	c.703G>C	c.(703-705)Gaa>Caa	p.E235Q	UBXN2A_ENST00000535786.1_Missense_Mutation_p.E182Q|UBXN2A_ENST00000446425.2_3'UTR|UBXN2A_ENST00000404924.1_Missense_Mutation_p.E235Q	NM_181713.3	NP_859064.2	P68543	UBX2A_HUMAN	UBX domain protein 2A	235	UBX.									endometrium(1)|large_intestine(3)|liver(1)|lung(6)	11						CACACTGGAAGAAGCAGATTT	0.408000													19	58					0	0	1	0	0
DDX11	1663	broad.mit.edu	37	12	31255232	31255232	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr12:31255232C>G	ENST00000407793.2	+	22	2509	c.2258C>G	c.(2257-2259)tCc>tGc	p.S753C	DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000542838.1_Missense_Mutation_p.S753C|DDX11_ENST00000228264.6_Missense_Mutation_p.S727C|DDX11_ENST00000545668.1_Missense_Mutation_p.S753C|DDX11_ENST00000350437.4_Missense_Mutation_p.S703C	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	753					G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					CTGGCATATTCCAGGTGCATC	0.567000										Multiple Myeloma(12;0.14)			11	44					0	0	1	0	0
DDX3X	1654	broad.mit.edu	37	X	41204702	41204702	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chrX:41204702G>T	ENST00000399959.2	+	12	2071	c.1216G>T	c.(1216-1218)Gga>Tga	p.G406*	DDX3X_ENST00000457138.2_Nonsense_Mutation_p.G390*|DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000441189.2_Intron|DDX3X_ENST00000542215.1_3'UTR	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	406	Necessary for interaction with XPO1.				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						CTTGGCTGTAGGAAGAGTTGG	0.353000										HNSCC(61;0.18)			3	29					0.004672	0.00472386	1	1	0
PGM2L1	283209	broad.mit.edu	37	11	74058370	74058370	+	Silent	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr11:74058370C>T	ENST00000298198.4	-	7	1073	c.762G>A	c.(760-762)tcG>tcA	p.S254S		NM_173582.3	NP_775853.2	Q6PCE3	PGM2L_HUMAN	phosphoglucomutase 2-like 1	254					glucose 1-phosphate metabolic process	cytosol	glucose-1,6-bisphosphate synthase activity|phosphoglucomutase activity			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(11;3.32e-06)					AGGTGGTCTTCGAGTTTAACT	0.348000													7	31					0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121326259	121326259	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr8:121326259G>T	ENST00000297848.3	+	38	4814	c.4544G>T	c.(4543-4545)gGa>gTa	p.G1515V	COL14A1_ENST00000309791.4_Missense_Mutation_p.G1515V|COL14A1_ENST00000247781.3_Missense_Mutation_p.G1420V	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	1515	Triple-helical region 1 (COL2).				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TCCATTCAAGGAATGCCCGTG	0.473000													11	49					4.68919e-08	4.89944e-08	1	1	0
CHST4	10164	broad.mit.edu	37	16	71571673	71571673	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr16:71571673G>C	ENST00000338482.5	+	3	1436	c.1093G>C	c.(1093-1095)Gaa>Caa	p.E365Q	CHST4_ENST00000572450.1_Missense_Mutation_p.E365Q|ZNF19_ENST00000568446.1_Intron|CHST4_ENST00000539698.3_Missense_Mutation_p.E365Q			Q8NCG5	CHST4_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4	365					cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						CGTCAGATCTGAACAAGAACA	0.522000											OREG0023923	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	45					0	0	1	0	0
C17orf104	284071	broad.mit.edu	37	17	42744754	42744754	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr17:42744754G>A	ENST00000409122.2	+	5	1617	c.1475G>A	c.(1474-1476)cGa>cAa	p.R492Q	C17orf104_ENST00000359945.3_Missense_Mutation_p.R492Q|C17orf104_ENST00000409464.1_Missense_Mutation_p.R326Q	NM_001145080.2	NP_001138552.2	A2RUB1	CQ104_HUMAN	chromosome 17 open reading frame 104	492								p.R492L(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|skin(1)	24						ATTCCTTATCGAAATCAAGGT	0.323000													9	31					0	0	1	0	0
C22orf29	79680	broad.mit.edu	37	22	19839740	19839740	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr22:19839740G>C	ENST00000405640.1	-	2	713	c.45C>G	c.(43-45)atC>atG	p.I15M	GNB1L_ENST00000403325.1_Intron|GNB1L_ENST00000329517.6_Intron|C22orf29_ENST00000484072.1_Intron|C22orf29_ENST00000328554.4_Missense_Mutation_p.I15M|GNB1L_ENST00000405009.1_Intron|C22orf29_ENST00000407472.1_Missense_Mutation_p.I15M|GNB1L_ENST00000460402.1_Intron			Q7L3V2	CV029_HUMAN	chromosome 22 open reading frame 29	15								p.I15I(1)		NS(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	7	Colorectal(54;0.0993)					CGGCTGCCCAGATGGGAATGC	0.637000													19	55					0	0	1	0	0
RBL1	5933	broad.mit.edu	37	20	35690595	35690595	+	Silent	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr20:35690595G>A	ENST00000373664.3	-	8	1041	c.975C>T	c.(973-975)gaC>gaT	p.D325D	RBL1_ENST00000344359.3_Silent_p.D325D	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1 (p107)	325					cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				CCTCTTCTGCGTCTGCTCCCA	0.418000													8	33					0	0	1	0	0
DPAGT1	1798	broad.mit.edu	37	11	118972318	118972318	+	Silent	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr11:118972318G>A	ENST00000409993.2	-	3	1599	c.48C>T	c.(46-48)atC>atT	p.I16I	DPAGT1_ENST00000445653.1_5'UTR|DPAGT1_ENST00000354202.4_Silent_p.I16I|DPAGT1_ENST00000432443.2_5'UTR			Q9H3H5	GPT_HUMAN	dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)	16					dolichol biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein oligomerization	integral to endoplasmic reticulum membrane|microsome	phospho-N-acetylmuramoyl-pentapeptide-transferase activity|transferase activity, transferring glycosyl groups|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		GCAGCGAGACGATCAAATTGA	0.617000											OREG0021396	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	54					0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53062380	53062380	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr8:53062380G>A	ENST00000276480.7	-	16	2647	c.1964C>T	c.(1963-1965)gCa>gTa	p.A655V		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	655						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				CTGATAGAATGCTGCATTGAC	0.468000													3	22					0	0	1	0	0
DIP2B	57609	broad.mit.edu	37	12	51117064	51117064	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr12:51117064G>C	ENST00000301180.5	+	27	3280	c.3246G>C	c.(3244-3246)caG>caC	p.Q1082H		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	1082						nucleus	catalytic activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						CACATGCTCAGAACCTCACGG	0.512000													16	55					0	0	1	0	0
LRRC43	254050	broad.mit.edu	37	12	122669239	122669239	+	Silent	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr12:122669239G>A	ENST00000339777.4	+	2	352	c.324G>A	c.(322-324)ctG>ctA	p.L108L	LRRC43_ENST00000425921.1_5'UTR	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	108										NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		ACAGTTTCCTGAGAGAATTGG	0.607000													6	12					0	0	1	0	0
OSBPL8	114882	broad.mit.edu	37	12	76796503	76796503	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr12:76796503G>A	ENST00000261183.3	-	6	811	c.332C>T	c.(331-333)aCt>aTt	p.T111I	OSBPL8_ENST00000393250.4_Missense_Mutation_p.T69I|OSBPL8_ENST00000393249.2_Missense_Mutation_p.T69I	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	111					lipid transport		lipid binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						TTTGCTTGAAGTTGAACTGTC	0.343000													6	16					0	0	1	0	0
DAXX	1616	broad.mit.edu	37	6	33289517	33289517	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr6:33289517C>G	ENST00000374542.5	-	2	390	c.186G>C	c.(184-186)gaG>gaC	p.E62D	DAXX_ENST00000477162.1_5'UTR|DAXX_ENST00000414083.2_Intron|DAXX_ENST00000266000.6_Missense_Mutation_p.E62D	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	62	Necessary for interaction with USP7.				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						GCTTCTCATTCTCCAGCTTGT	0.567000			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM								41	155					0	0	1	0	0
TEKT3	64518	broad.mit.edu	37	17	15215662	15215662	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr17:15215662G>A	ENST00000395930.1	-	7	1201	c.1015C>T	c.(1015-1017)Caa>Taa	p.Q339*	TEKT3_ENST00000338696.2_Nonsense_Mutation_p.Q339*	NM_031898.2	NP_114104.1	Q9BXF9	TEKT3_HUMAN	tektin 3	339					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		TTGTTGAATTGATTCCACATC	0.448000													16	63					0	0	1	0	0
SPATA7	55812	broad.mit.edu	37	14	88894023	88894023	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr14:88894023G>A	ENST00000556553.1	+	7	1358	c.799G>A	c.(799-801)Gaa>Aaa	p.E267K	SPATA7_ENST00000045347.7_Missense_Mutation_p.E299K|SPATA7_ENST00000393545.4_Missense_Mutation_p.E299K|SPATA7_ENST00000356583.5_Missense_Mutation_p.E267K			Q9P0W8	SPAT7_HUMAN	spermatogenesis associated 7	299					response to stimulus|visual perception					cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	18						GACAGATTCAGAAATGAACAT	0.279000													6	29					0	0	1	0	0
FRK	2444	broad.mit.edu	37	6	116265446	116265446	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr6:116265446G>C	ENST00000606080.1	-	6	1547	c.1101C>G	c.(1099-1101)atC>atG	p.I367M	FRK_ENST00000538210.1_Missense_Mutation_p.I225M	NM_002031.2	NP_002022.1	P42685	FRK_HUMAN	fyn-related kinase	367	Protein kinase.				negative regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)		CTACTTTGTAGATATTATGTT	0.403000													11	59					0	0	1	0	0
CLCN3	1182	broad.mit.edu	37	4	170613336	170613336	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr4:170613336C>G	ENST00000513761.1	+	7	1360	c.801C>G	c.(799-801)atC>atG	p.I267M	CLCN3_ENST00000504131.2_Missense_Mutation_p.I250M|CLCN3_ENST00000360642.3_Missense_Mutation_p.I267M|CLCN3_ENST00000347613.4_Missense_Mutation_p.I267M	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN	chloride channel, voltage-sensitive 3	267					endosomal lumen acidification	cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane	antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		TTAAAACCATCACATTAGTCC	0.388000													6	87					0	0	1	0	0
SLC2A14	144195	broad.mit.edu	37	12	7967025	7967025	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr12:7967025C>A	ENST00000543909.1	-	16	2209	c.1450G>T	c.(1450-1452)Gat>Tat	p.D484Y	SLC2A14_ENST00000542546.1_Missense_Mutation_p.D375Y|SLC2A14_ENST00000340749.5_Missense_Mutation_p.D461Y|SLC2A14_ENST00000396589.2_Missense_Mutation_p.D484Y|SLC2A14_ENST00000539924.1_Missense_Mutation_p.D499Y|SLC2A14_ENST00000542505.1_Missense_Mutation_p.D125Y|SLC2A14_ENST00000431042.2_Missense_Mutation_p.D461Y|SLC2A14_ENST00000535295.1_Missense_Mutation_p.D375Y			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	484					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		CGTGTGATATCCTCAAAAGTC	0.517000													14	83					2.31682e-05	2.37611e-05	1	1	0
CEP85	64793	broad.mit.edu	37	1	26586208	26586208	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr1:26586208C>T	ENST00000252992.4	+	7	1387	c.1256C>T	c.(1255-1257)tCt>tTt	p.S419F	CEP85_ENST00000451429.2_Missense_Mutation_p.S368F	NM_001281517.1|NM_022778.2	NP_001268446.1|NP_073615.2	Q6P2H3	CEP85_HUMAN	centrosomal protein 85kDa	419						centrosome|nucleolus|spindle pole				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(11)|skin(2)	25						CTCTCTGCTTCTGAAGTTGAA	0.453000													13	71					0	0	1	0	0
PPFIBP2	8495	broad.mit.edu	37	11	7670063	7670063	+	Silent	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr11:7670063G>A	ENST00000299492.4	+	19	2218	c.1830G>A	c.(1828-1830)aaG>aaA	p.K610K	PPFIBP2_ENST00000533792.1_Silent_p.K452K|PPFIBP2_ENST00000530582.1_3'UTR|PPFIBP2_ENST00000530181.1_Silent_p.K467K|PPFIBP2_ENST00000528883.1_Silent_p.K498K	NM_003621.3	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	610	SAM 1.				cell communication|DNA integration	intracellular	DNA binding|integrase activity|protein binding			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		TCCACAGGAAGAAGCTTGTTT	0.438000													11	76					0	0	1	0	0
SIX4	51804	broad.mit.edu	37	14	61190745	61190745	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr14:61190745G>C	ENST00000216513.4	-	1	107	c.48C>G	c.(46-48)atC>atG	p.I16M		NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN	SIX homeobox 4	16						nucleus				breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		TCTCTTGCTTGATGTCCGCCG	0.622000													27	46					0	0	1	0	0
SLC9A3	6550	broad.mit.edu	37	5	476392	476392	+	Silent	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr5:476392G>A	ENST00000264938.3	-	13	2001	c.1992C>T	c.(1990-1992)ttC>ttT	p.F664F	CTD-2228K2.7_ENST00000606319.1_RNA|CTD-2228K2.7_ENST00000607286.1_RNA|SLC9A3_ENST00000514375.1_Silent_p.F655F	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	664	Interaction with PDZD3 (By similarity).					cell surface|integral to membrane	sodium:hydrogen antiporter activity			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			TGGTCGACTTGAAGGACTCCA	0.602000													13	42					0	0	1	0	0
NCOR1	9611	broad.mit.edu	37	17	15973811	15973811	+	Nonsense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr17:15973811G>C	ENST00000268712.3	-	31	4438	c.4181C>G	c.(4180-4182)tCa>tGa	p.S1394*	NCOR1_ENST00000395857.3_5'UTR|NCOR1_ENST00000395851.1_Nonsense_Mutation_p.S1410*	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1394	Interaction with ETO.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		AGATTGACCTGAGTTGTTGTC	0.433000													9	54					0	0	1	0	0
FBXO34	55030	broad.mit.edu	37	14	55817538	55817538	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr14:55817538G>C	ENST00000313833.4	+	2	675	c.430G>C	c.(430-432)Gat>Cat	p.D144H	FBXO34_ENST00000555087.1_3'UTR|FBXO34_ENST00000440021.1_Missense_Mutation_p.D144H	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	144										breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						CTGGGATATTGATGGGAGAGC	0.413000													3	18					0	0	1	0	0
L3MBTL2	83746	broad.mit.edu	37	22	41626226	41626226	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr22:41626226G>T	ENST00000216237.5	+	17	2247	c.2089G>T	c.(2089-2091)Gag>Tag	p.E697*	CHADL_ENST00000216241.9_Intron	NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	697					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TGTCTCCGTCGAGAACATCAA	0.582000													14	28					4.3838e-07	4.56134e-07	1	1	0
IFI16	3428	broad.mit.edu	37	1	158984714	158984714	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr1:158984714C>G	ENST00000295809.7	+	2	499	c.244C>G	c.(244-246)Ctt>Gtt	p.L82V	IFI16_ENST00000368132.3_Missense_Mutation_p.L82V|IFI16_ENST00000368131.4_Missense_Mutation_p.L82V|IFI16_ENST00000448393.2_Missense_Mutation_p.L82V|IFI16_ENST00000430894.2_Missense_Mutation_p.L86V|IFI16_ENST00000340979.6_Missense_Mutation_p.L82V|IFI16_ENST00000359709.3_Missense_Mutation_p.L82V			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	82	DAPIN.|Lys-rich.				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					GGCTGAAACTCTTAAAAAAGA	0.443000													4	53					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49448347	49448347	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr12:49448347C>T	ENST00000301067.7	-	3	363	c.364G>A	c.(364-366)Gag>Aag	p.E122K		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		GTAAGGCCCTCAGGGAAACCA	0.597000													4	9					0	0	1	0	0
HCAR2	338442	broad.mit.edu	37	12	123187756	123187756	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr12:123187756G>C	ENST00000328880.5	-	1	134	c.75C>G	c.(73-75)ttC>ttG	p.F25L	RP11-324E6.6_ENST00000543611.1_lincRNA|HCAR1_ENST00000356987.2_Intron	NM_177551.3	NP_808219.1	Q8TDS4	HCAR2_HUMAN	hydroxycarboxylic acid receptor 2	25					negative regulation of lipid catabolic process|neutrophil apoptosis|positive regulation of adiponectin secretion|positive regulation of neutrophil apoptosis	integral to membrane|plasma membrane	nicotinic acid receptor activity|purinergic nucleotide receptor activity, G-protein coupled			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	15					Mepenzolate(DB04843)|Niacin(DB00627)	CCTTGACAATGAAGTCATCTC	0.517000													23	74					0	0	1	0	0
TGDS	23483	broad.mit.edu	37	13	95233385	95233385	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr13:95233385G>T	ENST00000261296.5	-	6	635	c.515C>A	c.(514-516)gCt>gAt	p.A172D	TGDS_ENST00000498294.1_5'UTR	NM_014305.2	NP_055120.1	O95455	TGDS_HUMAN	TDP-glucose 4,6-dehydratase	172					cellular metabolic process		coenzyme binding|dTDP-glucose 4,6-dehydratase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8	all_neural(89;0.0684)|Medulloblastoma(90;0.163)					ACATTCAGCAGCTGCTTTAGA	0.303000													7	41					5.4927e-09	5.76907e-09	1	1	0
ADAMTS15	170689	broad.mit.edu	37	11	130319659	130319659	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr11:130319659T>C	ENST00000299164.2	+	1	791	c.791T>C	c.(790-792)aTc>aCc	p.I264T		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	264	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		CCCATCAACATCGTTGTGGTC	0.607000											OREG0021518	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	15					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7583774	7583774	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr6:7583774C>G	ENST00000379802.3	+	24	6620	c.6279C>G	c.(6277-6279)atC>atG	p.I2093M	DSP_ENST00000418664.2_Missense_Mutation_p.I1494M	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2093	Globular 2.				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)		AAAAAGCTATCACTGGTTTTG	0.453000													21	101					0	0	1	0	0
ABL1	25	broad.mit.edu	37	9	133750279	133750279	+	Silent	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr9:133750279G>A	ENST00000318560.5	+	7	1491	c.1110G>A	c.(1108-1110)ctG>ctA	p.L370L		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	c-abl oncogene 1, non-receptor tyrosine kinase	370	Protein kinase.				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding	p.?(1)		breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	GAAACTGCCTGGTAGGGGAGA	0.522000			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""								13	45					0	0	1	0	0
SLC34A3	142680	broad.mit.edu	37	9	140128102	140128102	+	Silent	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr9:140128102C>T	ENST00000538474.1	+	8	998	c.774C>T	c.(772-774)atC>atT	p.I258I	SLC34A3_ENST00000361134.2_Silent_p.I258I	NM_001177316.1|NM_001177317.1	NP_001170787|NP_001170788	Q8N130	NPT2C_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 3	258					cellular phosphate ion homeostasis	apical plasma membrane|integral to membrane	sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		CCGACATGATCATGAGCAGTG	0.662000													5	63					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9057036	9057036	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr19:9057036G>C	ENST00000397910.4	-	3	30613	c.30410C>G	c.(30409-30411)tCt>tGt	p.S10137C		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10139	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						AGCCATGGAAGAGGGAGTACC	0.463000													10	22					0	0	1	0	0
GPR179	440435	broad.mit.edu	37	17	36486351	36486351	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr17:36486351G>C	ENST00000342292.4	-	11	3121	c.3101C>G	c.(3100-3102)tCt>tGt	p.S1034C		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1034						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TACTGCAACAGAGAGGGCCCT	0.607000													12	35					0	0	1	0	0
LOC101927060	101927060	broad.mit.edu	37	17	45128792	45128792	+	RNA	SNP	G	G	T	rs143713325	by1000genomes	TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr17:45128792G>T	ENST00000575173.1	-	0	418																											AATTCAGGTTGTCAGAATGCA	0.373000													4	50					0.150653	0.150955	1	1	0
TMEM42	131616	broad.mit.edu	37	3	44905724	44905724	+	Silent	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr3:44905724G>A	ENST00000302392.4	+	2	284	c.228G>A	c.(226-228)gtG>gtA	p.V76V		NM_144638.1	NP_653239.1	Q69YG0	TMM42_HUMAN	transmembrane protein 42	76						integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	8				BRCA - Breast invasive adenocarcinoma(193;0.00839)|KIRC - Kidney renal clear cell carcinoma(197;0.0461)|Kidney(197;0.0576)		GCATTATTGTGATGGCGAGCA	0.512000													15	51					0	0	1	0	0
ATP6AP2	10159	broad.mit.edu	37	X	40456901	40456901	+	Silent	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chrX:40456901G>A	ENST00000378438.4	+	5	677	c.519G>A	c.(517-519)ctG>ctA	p.L173L	ATP6AP2_ENST00000535539.1_Silent_p.L141L|ATP6AP2_ENST00000544975.1_Silent_p.L97L|ATP6AP2_ENST00000535777.1_Intron|ATP6AP2_ENST00000486558.1_3'UTR	NM_005765.2	NP_005756.2	O75787	RENR_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 2	173					angiotensin maturation|positive regulation of transforming growth factor-beta1 production|regulation of MAPKKK cascade	external side of plasma membrane|integral to membrane	protein binding|receptor activity			endometrium(1)|large_intestine(1)|lung(2)	4						TCAATTCTCTGAGTAGGAACA	0.403000													6	34					0	0	1	0	0
SETD5	55209	broad.mit.edu	37	3	9515119	9515119	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr3:9515119C>T	ENST00000402466.1	+	21	3869	c.3101C>T	c.(3100-3102)cCa>cTa	p.P1034L	SETD5_ENST00000406341.1_Missense_Mutation_p.P1132L|SETD5_ENST00000407969.1_Missense_Mutation_p.P1151L|SETD5_ENST00000302463.6_Missense_Mutation_p.P1034L|SETD5_ENST00000402198.1_Missense_Mutation_p.P1132L			Q9C0A6	SETD5_HUMAN	SET domain containing 5	1132										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		AAATTCTCCCCATCTCATTCC	0.527000													3	19					0	0	1	0	0
AMN1	196394	broad.mit.edu	37	12	31850794	31850794	+	Silent	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr12:31850794G>C	ENST00000281471.6	-	4	579	c.414C>G	c.(412-414)ctC>ctG	p.L138L	AMN1_ENST00000541931.1_5'UTR|AMN1_ENST00000536761.1_Silent_p.L120L|AMN1_ENST00000542781.1_5'UTR|AMN1_ENST00000537562.1_Silent_p.L120L	NM_001113402.1|NM_001278411.1|NM_001278412.1	NP_001106873.1|NP_001265340.1|NP_001265341.1	Q8IY45	AMN1_HUMAN	antagonist of mitotic exit network 1 homolog (S. cerevisiae)	138										breast(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	7	all_cancers(9;7.41e-12)|all_epithelial(9;1.18e-11)|all_lung(12;1.14e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.162)		OV - Ovarian serous cystadenocarcinoma(6;0.0014)			GCTGGCAATTGAGTGCAAGAG	0.423000													10	32					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77764240	77764240	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr8:77764240C>G	ENST00000521891.2	+	10	5531	c.5083C>G	c.(5083-5085)Cag>Gag	p.Q1695E	ZFHX4_ENST00000455469.2_Missense_Mutation_p.Q1650E|ZFHX4_ENST00000050961.6_Missense_Mutation_p.Q1650E|ZFHX4_ENST00000518282.1_Missense_Mutation_p.Q1669E	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1650	Gln-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Q1695*(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AGCACAAATTCAGATGCAACT	0.428000										HNSCC(33;0.089)			9	40					0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48608565	48608565	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr3:48608565G>A	ENST00000328333.8	-	93	7240	c.7133C>T	c.(7132-7134)tCc>tTc	p.S2378F	COL7A1_ENST00000454817.1_Missense_Mutation_p.S2346F	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2378	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AGGCCCAGGGGAGCCCGGGAC	0.642000													10	23					0	0	1	0	0
GPR179	440435	broad.mit.edu	37	17	36485023	36485023	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr17:36485023C>G	ENST00000342292.4	-	11	4449	c.4429G>C	c.(4429-4431)Gag>Cag	p.E1477Q		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1477						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GGACAGATCTCTGCTTTCTGG	0.532000													24	66					0	0	1	0	0
GUCA1A	2978	broad.mit.edu	37	6	42147033	42147033	+	Silent	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr6:42147033C>G	ENST00000394237.1	+	6	1474	c.498C>G	c.(496-498)ctC>ctG	p.L166L	GUCA1A_ENST00000541991.1_Silent_p.L166L|GUCA1A_ENST00000053469.4_Silent_p.L166L|GUCA1A_ENST00000372958.1_Silent_p.L166L			P43080	GUC1A_HUMAN	guanylate cyclase activator 1A (retina)	166	EF-hand 4.				signal transduction|visual perception	membrane	calcium ion binding|calcium sensitive guanylate cyclase activator activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	7	Colorectal(47;0.196)		STAD - Stomach adenocarcinoma(11;5.54e-05)|Epithelial(12;0.000167)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			ACCAGATGCTCCTGGACACAC	0.597000													9	30					0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23907010	23907010	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr13:23907010G>C	ENST00000382298.3	-	10	11593	c.11005C>G	c.(11005-11007)Caa>Gaa	p.Q3669E	SACS_ENST00000402364.1_Missense_Mutation_p.Q2919E|SACS_ENST00000382292.3_Missense_Mutation_p.Q3669E	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	3669					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TCTTGATATTGAGGATGAAAT	0.383000													13	44					0	0	1	0	0
MOCS2	4338	broad.mit.edu	37	5	52404443	52404443	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr5:52404443C>G	ENST00000361377.4	-	2	90	c.49G>C	c.(49-51)Gaa>Caa	p.E17Q	MOCS2_ENST00000396954.3_5'UTR|MOCS2_ENST00000527216.1_Missense_Mutation_p.E12Q|MOCS2_ENST00000582677.1_Missense_Mutation_p.E17Q|MOCS2_ENST00000508922.1_Missense_Mutation_p.E17Q|MOCS2_ENST00000450852.3_Missense_Mutation_p.E17Q|MOCS2_ENST00000510818.2_Missense_Mutation_p.E17Q|MOCS2_ENST00000584946.1_Missense_Mutation_p.E17Q			O96033	MOC2A_HUMAN	molybdenum cofactor synthesis 2	17					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex	nucleotide binding			endometrium(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(810;3.08e-05)|Breast(144;0.0848)				CCTGTTATTTCAGCACTTTTT	0.368000													6	23					0	0	1	0	0
CD2BP2	10421	broad.mit.edu	37	16	30365287	30365287	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr16:30365287C>G	ENST00000305596.3	-	4	485	c.310G>C	c.(310-312)Gat>Cat	p.D104H	CD2BP2_ENST00000569466.1_Missense_Mutation_p.D104H	NM_006110.2	NP_006101.1	O95400	CD2B2_HUMAN	CD2 (cytoplasmic tail) binding protein 2	104					assembly of spliceosomal tri-snRNP	cytoplasm|nucleoplasm|U5 snRNP	protein binding|ribonucleoprotein binding			breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	15						TAGTTGCCATCGGCATCAAAG	0.627000													16	50					0	0	1	0	0
LOC101927060	101927060	broad.mit.edu	37	17	45131853	45131853	+	RNA	SNP	G	G	A	rs143888075	by1000genomes	TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr17:45131853G>A	ENST00000575173.1	-	0	418																											TTTCAAGAATGAAAACCTTGG	0.512000													9	31					0	0	1	0	0
PLEKHG4B	153478	broad.mit.edu	37	5	163635	163635	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr5:163635G>A	ENST00000283426.6	+	11	2430	c.2380G>A	c.(2380-2382)Gag>Aag	p.E794K		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	794					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		CCACCCTGCTGAGGAGGATGG	0.637000													4	5					0	0	1	0	0
GMPPA	29926	broad.mit.edu	37	2	220368919	220368919	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr2:220368919C>G	ENST00000358215.3	+	7	973	c.604C>G	c.(604-606)Cag>Gag	p.Q202E	GMPPA_ENST00000373908.1_Missense_Mutation_p.Q202E|AC053503.11_ENST00000429882.1_RNA|GMPPA_ENST00000341142.3_Missense_Mutation_p.Q202E|GMPPA_ENST00000373917.3_Missense_Mutation_p.Q202E|GMPPA_ENST00000313597.5_Missense_Mutation_p.Q202E	NM_205847.2	NP_995319.1	Q96IJ6	GMPPA_HUMAN	GDP-mannose pyrophosphorylase A	202					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20		Renal(207;0.0183)		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)		CCAGCGTAATCAGCAGGATGG	0.542000													7	21					0	0	1	0	0
COLGALT2	23127	broad.mit.edu	37	1	183938596	183938596	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr1:183938596C>G	ENST00000361927.4	-	5	1010	c.639G>C	c.(637-639)aaG>aaC	p.K213N	COLGALT2_ENST00000546159.1_Missense_Mutation_p.K213N	NM_015101.2	NP_055916.1			collagen beta(1-O)galactosyltransferase 2																		CTGGGGTCCTCTTATAGAAGC	0.473000													14	22					0	0	1	0	0
GLI2	2736	broad.mit.edu	37	2	121726308	121726308	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr2:121726308C>T	ENST00000452319.1	+	6	722	c.662C>T	c.(661-663)cCg>cTg	p.P221L	GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000314490.11_5'UTR|GLI2_ENST00000361492.4_Missense_Mutation_p.P221L			P10070	GLI2_HUMAN	GLI family zinc finger 2	221					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				TTCTCCAGCCCGCGGGTGACG	0.647000													18	45					0	0	1	0	0
MROH2B	133558	broad.mit.edu	37	5	41055864	41055864	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr5:41055864C>G	ENST00000399564.4	-	10	1463	c.1013G>C	c.(1012-1014)aGa>aCa	p.R338T	MROH2B_ENST00000506092.2_Intron	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		GACAGCCAATCTTAACAAAGT	0.423000													10	34					0	0	1	0	0
RCL1	10171	broad.mit.edu	37	9	4844670	4844670	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr9:4844670G>A	ENST00000381750.4	+	7	1079	c.856G>A	c.(856-858)Gaa>Aaa	p.E286K	RCL1_ENST00000448872.2_Missense_Mutation_p.E100K|RCL1_ENST00000381730.1_Missense_Mutation_p.E100K|RCL1_ENST00000381728.1_Missense_Mutation_p.E100K	NM_005772.3	NP_005763.3	Q9Y2P8	RCL1_HUMAN	RNA terminal phosphate cyclase-like 1	286					ribosome biogenesis|RNA processing	nucleolus	RNA-3'-phosphate cyclase activity			breast(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0206)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0244)		GCTGCTGGAGGAAATCTACAG	0.552000													12	53					0	0	1	0	0
PRR14	78994	broad.mit.edu	37	16	30666443	30666443	+	Silent	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr16:30666443C>G	ENST00000542965.2	+	7	1608	c.1152C>G	c.(1150-1152)gtC>gtG	p.V384V	PRR14_ENST00000300835.4_Silent_p.V384V|PRR14_ENST00000571654.1_Intron			Q9BWN1	PRR14_HUMAN	proline rich 14	384										breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			GGAAAGAGGTCTTCCCTCTCG	0.657000													15	49					0	0	1	0	0
CD80	941	broad.mit.edu	37	3	119256241	119256241	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr3:119256241G>C	ENST00000264246.3	-	4	805	c.443C>G	c.(442-444)tCt>tGt	p.S148C	CD80_ENST00000383668.3_Intron|CD80_ENST00000478182.1_Missense_Mutation_p.S148C|CD80_ENST00000383669.3_Missense_Mutation_p.S148C	NM_005191.3	NP_005182.1	P33681	CD80_HUMAN	CD80 molecule	148	Ig-like C2-type.				interspecies interaction between organisms|intracellular signal transduction|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of signal transduction|positive regulation of T-helper 1 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation	intracellular	coreceptor activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	12					Abatacept(DB01281)	TTCAAAGTCAGATATACTAGG	0.338000													9	48					0	0	1	0	0
LTV1	84946	broad.mit.edu	37	6	144183372	144183372	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr6:144183372C>G	ENST00000367576.5	+	8	1189	c.1055C>G	c.(1054-1056)tCt>tGt	p.S352C		NM_032860.3	NP_116249.2	Q96GA3	LTV1_HUMAN	LTV1 homolog (S. cerevisiae)	352										breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(155;2.72e-06)|GBM - Glioblastoma multiforme(68;0.0372)		GATTGTGAATCTATTTGTAGT	0.388000													5	36					0	0	1	0	0
LRRCC1	85444	broad.mit.edu	37	8	86041430	86041430	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr8:86041430G>A	ENST00000414626.2	+	9	2271	c.1382G>A	c.(1381-1383)aGa>aAa	p.R461K	LRRCC1_ENST00000360375.3_Missense_Mutation_p.R481K			Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	481					cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						ATTATTTTTAGAGAGAGAAAT	0.289000													23	104					0	0	1	0	0
OGFOD1	55239	broad.mit.edu	37	16	56501895	56501895	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr16:56501895G>A	ENST00000566157.1	+	8	988	c.865G>A	c.(865-867)Gaa>Aaa	p.E289K	OGFOD1_ENST00000568397.1_Missense_Mutation_p.E246K	NM_018233.3	NP_060703.3	Q8N543	OGFD1_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 1	289							iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8					Vitamin C(DB00126)	AGAGTTTGAAGAAAGTTCTGA	0.383000													5	26					0	0	1	0	0
TUBA1B	10376	broad.mit.edu	37	12	49523287	49523287	+	Silent	SNP	G	G	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr12:49523287G>T	ENST00000336023.5	-	2	316	c.222C>A	c.(220-222)gtC>gtA	p.V74V	RP11-386G11.10_ENST00000547387.1_RNA	NM_006082.2	NP_006073.2	P68363	TBA1B_HUMAN	tubulin, alpha 1b	74					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(4)	12						ACTCACCAATGACTGTGGGTT	0.567000													22	70					2.32416e-17	2.49337e-17	1	1	0
KDELC1	79070	broad.mit.edu	37	13	103438620	103438620	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr13:103438620C>T	ENST00000376004.4	-	9	1789	c.1453G>A	c.(1453-1455)Gag>Aag	p.E485K	KDELC1_ENST00000460338.1_5'UTR	NM_024089.2	NP_076994.2	Q6UW63	KDEL1_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 1	485						endoplasmic reticulum lumen				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					AGGTCGTCCTCAGTCTGTGGT	0.428000													13	66					0	0	1	0	0
USP32	84669	broad.mit.edu	37	17	58289393	58289393	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr17:58289393C>T	ENST00000300896.4	-	19	2365	c.2171G>A	c.(2170-2172)aGa>aAa	p.R724K	USP32_ENST00000592339.1_Missense_Mutation_p.R394K	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	724					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			ACCCTTGTGTCTATCTATTTT	0.308000													7	40					0	0	1	0	0
RBM12B	389677	broad.mit.edu	37	8	94747137	94747137	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr8:94747137G>A	ENST00000399300.2	-	3	1715	c.1502C>T	c.(1501-1503)tCa>tTa	p.S501L	RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Missense_Mutation_p.S501L	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	501							nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			TCGCTCACGTGACTGTGAGCG	0.403000													23	94					0	0	1	0	0
RAB3GAP2	25782	broad.mit.edu	37	1	220364510	220364510	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr1:220364510G>C	ENST00000358951.2	-	14	1503	c.1387C>G	c.(1387-1389)Caa>Gaa	p.Q463E		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	463					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		ACAAGGAATTGAGCTACTCGA	0.473000													15	80					0	0	1	0	0
CARD16	114769	broad.mit.edu	37	11	104915278	104915278	+	Missense_Mutation	SNP	C	C	G	rs141971448		TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr11:104915278C>G	ENST00000375706.2	-	2	132	c.115G>C	c.(115-117)Gag>Cag	p.E39Q	CASP1_ENST00000593315.1_Intron|CASP1_ENST00000598974.1_Intron|CARD16_ENST00000525374.1_Missense_Mutation_p.E39Q|CARD16_ENST00000375704.3_Missense_Mutation_p.E39Q|CASP1_ENST00000594519.1_Intron|CASP1_ENST00000415981.2_Intron	NM_001017534.1	NP_001017534.1			caspase recruitment domain family, member 16											endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	11						TTCTCCATCTCTTCCTGGTTC	0.428000													6	181					0	0	1	0	0
FCER2	2208	broad.mit.edu	37	19	7762141	7762141	+	Silent	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr19:7762141C>T	ENST00000346664.5	-	6	509	c.297G>A	c.(295-297)caG>caA	p.Q99Q	FCER2_ENST00000360067.4_Silent_p.Q98Q|FCER2_ENST00000597921.1_Silent_p.Q99Q	NM_001220500.1|NM_002002.4	NP_001207429.1|NP_001993.2	P06734	FCER2_HUMAN	Fc fragment of IgE, low affinity II, receptor for (CD23)	99					positive regulation of killing of cells of other organism|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of nitric-oxide synthase activity	extracellular region|integral to plasma membrane	IgE binding|integrin binding|receptor activity|sugar binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	10						TCAATCTCTGCTGTTCAGCTC	0.557000													13	45					0	0	1	0	0
EDC4	23644	broad.mit.edu	37	16	67915412	67915412	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr16:67915412G>A	ENST00000358933.5	+	21	3041	c.2802G>A	c.(2800-2802)atG>atA	p.M934I		NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	934	Sufficient for nuclear localization.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		ATGCAGCCATGGGATCCCGGC	0.587000													8	27					0	0	1	0	0
SCN3A	6328	broad.mit.edu	37	2	165948846	165948846	+	Silent	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr2:165948846C>T	ENST00000360093.3	-	27	5216	c.4725G>A	c.(4723-4725)ctG>ctA	p.L1575L	SCN3A_ENST00000465043.1_5'UTR|SCN3A_ENST00000540861.1_Silent_p.L58L|SCN3A_ENST00000283254.7_Silent_p.L1575L|SCN3A_ENST00000409101.3_Silent_p.L1526L	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1575						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	AGACGAGCTTCAGCACAAATT	0.443000													7	28					0	0	1	0	0
MCM3AP	8888	broad.mit.edu	37	21	47704783	47704783	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr21:47704783C>G	ENST00000397708.1	-	2	672	c.418G>C	c.(418-420)Ggg>Cgg	p.G140R	MCM3AP_ENST00000291688.1_Missense_Mutation_p.G140R			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	140					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					TCTGTTTTCCCAAAACCAGAG	0.433000													3	59					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32036356	32036356	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr6:32036356C>T	ENST00000375244.3	-	17	6232	c.6031G>A	c.(6031-6033)Gag>Aag	p.E2011K	TNXB_ENST00000375247.2_Missense_Mutation_p.E2011K			P22105	TENX_HUMAN	tenascin XB	2093	Fibronectin type-III 12.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						AACTGTCCCTCGGGAACTGTC	0.647000													10	39					0	0	1	0	0
H3F3C	440093	broad.mit.edu	37	12	31944918	31944918	+	Silent	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr12:31944918G>C	ENST00000340398.3	-	1	257	c.183C>G	c.(181-183)ctC>ctG	p.L61L		NM_001013699.2	NP_001013721.2	Q6NXT2	H3C_HUMAN	H3 histone, family 3C	61					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	18						GCTTCCGGATGAGCAGCTCGG	0.607000										HNSCC(67;0.2)			14	49					0	0	1	0	0
CCDC73	493860	broad.mit.edu	37	11	32634970	32634970	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr11:32634970G>A	ENST00000335185.5	-	16	2937	c.2894C>T	c.(2893-2895)cCa>cTa	p.P965L		NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	965										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					TTTCTTACCTGGTCCAATATC	0.289000													9	51					0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	4116724	4116724	+	Silent	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr7:4116724C>T	ENST00000404826.2	+	21	3244	c.3105C>T	c.(3103-3105)ctC>ctT	p.L1035L	SDK1_ENST00000389531.3_Silent_p.L1035L	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1035	Fibronectin type-III 4.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TCCAAGGCCTCTCATCTCTCA	0.572000													7	26					0	0	1	0	0
ZNF3	7551	broad.mit.edu	37	7	99669301	99669301	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr7:99669301G>C	ENST00000303915.6	-	5	1773	c.806C>G	c.(805-807)tCt>tGt	p.S269C	ZNF3_ENST00000424697.1_Missense_Mutation_p.S269C|ZNF3_ENST00000413658.2_Intron|ZNF3_ENST00000299667.4_Missense_Mutation_p.S269C			P17036	ZNF3_HUMAN	zinc finger protein 3	269					cell differentiation|leukocyte activation|multicellular organismal development	nucleus	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	STAD - Stomach adenocarcinoma(171;0.129)			AATGAGGGCAGAGCTACAGCT	0.507000													13	54					0	0	1	0	0
TCF25	22980	broad.mit.edu	37	16	89940220	89940220	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr16:89940220G>A	ENST00000263346.8	+	1	201	c.145G>A	c.(145-147)Ggg>Agg	p.G49R		NM_014972.2	NP_055787.1	Q9BQ70	TCF25_HUMAN	transcription factor 25 (basic helix-loop-helix)	49					heart development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		CCGGCGTCCCGGGGGCGCAGG	0.701000													5	3					0	0	1	0	0
ASTN2	23245	broad.mit.edu	37	9	119414050	119414050	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr9:119414050C>G	ENST00000313400.4	-	17	2929	c.2829G>C	c.(2827-2829)aaG>aaC	p.K943N	ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000358637.4_5'UTR|ASTN2_ENST00000373996.3_Missense_Mutation_p.K939N|ASTN2_ENST00000341734.4_5'UTR|ASTN2_ENST00000361209.2_Missense_Mutation_p.K892N|ASTN2_ENST00000288520.5_Missense_Mutation_p.K44N			O75129	ASTN2_HUMAN	astrotactin 2	943						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						TGAGCTCCTTCTTGCTGCCCA	0.493000													8	21					0	0	1	0	0
MLKL	197259	broad.mit.edu	37	16	74726289	74726289	+	Silent	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr16:74726289C>T	ENST00000308807.7	-	3	949	c.486G>A	c.(484-486)ctG>ctA	p.L162L	MLKL_ENST00000306247.7_Silent_p.L162L	NM_152649.2	NP_689862.1	Q8NB16	MLKL_HUMAN	mixed lineage kinase domain-like	162							ATP binding|protein binding|protein kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						CTAATCGTCTCAGTGAAGCTT	0.358000													6	36					0	0	1	0	0
GAS7	8522	broad.mit.edu	37	17	9862596	9862596	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr17:9862596C>T	ENST00000580865.1	-	1	183	c.28G>A	c.(28-30)Gat>Aat	p.D10N	GAS7_ENST00000583882.1_Missense_Mutation_p.D10N|GAS7_ENST00000578655.1_Intron|GAS7_ENST00000585266.1_Intron|GAS7_ENST00000437099.2_Intron|GAS7_ENST00000540214.1_Intron|GAS7_ENST00000579158.1_Intron|GAS7_ENST00000432992.2_Intron|GAS7_ENST00000323816.4_Intron|GAS7_ENST00000542249.1_Intron|GAS7_ENST00000396115.2_Intron	NM_003644.2	NP_003635.2	O60861	GAS7_HUMAN	growth arrest-specific 7	0	SH3.				cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						CAAGAAACATCGTCAAAGCTG	0.532000			T	MLL	AML*						OREG0024172	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	16					0	0	1	0	0
NHLRC1	378884	broad.mit.edu	37	6	18122786	18122786	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr6:18122786C>G	ENST00000340650.3	-	1	65	c.52G>C	c.(52-54)Gag>Cag	p.E18Q		NM_198586.2	NP_940988.2	Q6VVB1	NHLC1_HUMAN	NHL repeat containing 1	18					proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	endoplasmic reticulum|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.E18*(1)		breast(1)|kidney(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(2)	11	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	all cancers(50;0.0451)|Epithelial(50;0.0493)			ATCTCCGCCTCGCGCATGAGC	0.711000													5	26					0	0	1	0	0
NLRP1	22861	broad.mit.edu	37	17	5462056	5462056	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr17:5462056C>T	ENST00000345221.3	-	4	2514	c.1960G>A	c.(1960-1962)Gaa>Aaa	p.E654K	NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000572272.1_Missense_Mutation_p.E654K|NLRP1_ENST00000262467.5_Missense_Mutation_p.E654K|NLRP1_ENST00000354411.3_Missense_Mutation_p.E654K|NLRP1_ENST00000269280.4_Missense_Mutation_p.E654K|NLRP1_ENST00000577119.1_Missense_Mutation_p.E654K	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	654					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				AGCGTCTTTTCCAAATCTATG	0.448000													9	54					0	0	1	0	0
SETD2	29072	broad.mit.edu	37	3	47058588	47058588	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr3:47058588C>T	ENST00000409792.3	-	21	7732	c.7690G>A	c.(7690-7692)Gag>Aag	p.E2564K		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2564	Interaction with POLR2A.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		AACAGTCACTCTAATTCAGTG	0.493000			"""N, F, S, Mis"""		clear cell renal carcinoma								15	47					0	0	1	0	0
KCNA1	3736	broad.mit.edu	37	12	5021889	5021889	+	Missense_Mutation	SNP	A	A	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr12:5021889A>C	ENST00000382545.3	+	2	2452	c.1345A>C	c.(1345-1347)Atg>Ctg	p.M449L	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	449					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TTCCTCTACTATGAGCAAGTC	0.488000													22	123					0	0	1	0	0
NFKBIA	4792	broad.mit.edu	37	14	35871602	35871602	+	Missense_Mutation	SNP	C	C	G	rs116801398	by1000genomes	TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr14:35871602C>G	ENST00000216797.5	-	5	1005	c.904G>C	c.(904-906)Gag>Cag	p.E302Q	NFKBIA_ENST00000557389.1_Missense_Mutation_p.E212Q|NFKBIA_ENST00000557140.1_Missense_Mutation_p.E259Q	NM_020529.2	NP_065390.1	P25963	IKBA_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha	302					anti-apoptosis|apoptosis|cellular response to cold|cytoplasmic sequestering of NF-kappaB|innate immune response|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of DNA binding|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|I-kappaB/NF-kappaB complex|nucleus|plasma membrane	identical protein binding|NF-kappaB binding|nuclear localization sequence binding|ubiquitin protein ligase binding			breast(3)|endometrium(1)|large_intestine(2)|liver(1)	7	Breast(36;0.0484)|Hepatocellular(127;0.158)		Lung(238;9.25e-06)|LUAD - Lung adenocarcinoma(48;1.53e-05)|Epithelial(34;0.00314)|all cancers(34;0.00891)	GBM - Glioblastoma multiforme(112;0.0222)		AGACTCACCTCGTCCTCTGTG	0.542000													12	49					0	0	1	0	0
AP1G1	164	broad.mit.edu	37	16	71779423	71779423	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr16:71779423G>C	ENST00000299980.4	-	18	2266	c.1825C>G	c.(1825-1827)Cca>Gca	p.P609A	AP1G1_ENST00000569748.1_Missense_Mutation_p.P609A|AP1G1_ENST00000393512.3_Missense_Mutation_p.P612A|AP1G1_ENST00000423132.2_Missense_Mutation_p.P612A|AP1G1_ENST00000433195.2_Missense_Mutation_p.P632A|AP1G1_ENST00000564155.1_Missense_Mutation_p.P34A	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit	609					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				GTCTCTAGTGGAGCTGGTTCT	0.517000													13	98					0	0	1	0	0
OR51D1	390038	broad.mit.edu	37	11	4661041	4661041	+	Silent	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr11:4661041G>A	ENST00000357605.2	+	1	97	c.21G>A	c.(19-21)ttG>ttA	p.L7L		NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, member 1	7					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCCAGCTCTTGGTCCCTATCA	0.478000													17	86					0	0	1	0	0
GANC	2595	broad.mit.edu	37	15	42585102	42585102	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr15:42585102C>G	ENST00000318010.8	+	5	739	c.499C>G	c.(499-501)Ctt>Gtt	p.L167V	GANC_ENST00000566442.1_Missense_Mutation_p.L167V	NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	167					carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)		TCTACAGATTCTTCACAAACA	0.363000													5	60					0	0	1	0	0
VARS2	57176	broad.mit.edu	37	6	30883179	30883179	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr6:30883179G>T	ENST00000321897.5	+	3	963	c.331G>T	c.(331-333)Gct>Tct	p.A111S	VARS2_ENST00000416670.2_Missense_Mutation_p.A111S|VARS2_ENST00000541562.1_Missense_Mutation_p.A141S|VARS2_ENST00000542001.1_5'UTR			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	111					valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						ATATGTTGAGGCTGCCTGGTA	0.552000													22	79					5.35356e-11	5.65851e-11	1	1	0
IFI16	3428	broad.mit.edu	37	1	158990177	158990177	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr1:158990177G>C	ENST00000295809.7	+	6	1274	c.1019G>C	c.(1018-1020)aGa>aCa	p.R340T	IFI16_ENST00000368132.3_Missense_Mutation_p.R340T|IFI16_ENST00000368131.4_Missense_Mutation_p.R340T|IFI16_ENST00000448393.2_Missense_Mutation_p.R340T|IFI16_ENST00000430894.2_Missense_Mutation_p.R288T|IFI16_ENST00000340979.6_Missense_Mutation_p.R340T|IFI16_ENST00000359709.3_Missense_Mutation_p.R284T			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	340	HIN-200 1.				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					CAGGATGATAGAGGAAAAATG	0.358000													24	42					0	0	1	0	0
PNP	4860	broad.mit.edu	37	14	20943315	20943315	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr14:20943315G>A	ENST00000361505.5	+	5	702	c.556G>A	c.(556-558)Gag>Aag	p.E186K	RP11-203M5.8_ENST00000554678.1_lincRNA	NM_000270.3	NP_000261.2	P00491	PNPH_HUMAN	purine nucleoside phosphorylase	186					immune response|inosine catabolic process|interleukin-2 secretion|NAD biosynthesis via nicotinamide riboside salvage pathway|nicotinamide riboside catabolic process|positive regulation of alpha-beta T cell differentiation|positive regulation of T cell proliferation|purine base metabolic process|purine nucleotide catabolic process|purine-containing compound salvage|response to drug|urate biosynthetic process	cytoskeleton|cytosol	drug binding|nucleoside binding|phosphate binding|purine base binding|purine-nucleoside phosphorylase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|stomach(2)	10					Aciclovir(DB00787)|Cladribine(DB00242)|Mercaptopurine(DB01033)	GGAGCAACGTGAGCTACAGGA	0.557000													9	43					0	0	1	0	0
ESYT2	57488	broad.mit.edu	37	7	158554234	158554234	+	Splice_Site	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr7:158554234G>A	ENST00000251527.5	-	11	1395	c.1330C>T	c.(1330-1332)Ctt>Ttt	p.L444F		NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN	extended synaptotagmin-like protein 2	472	C2 1.					integral to membrane|plasma membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						TCAATCATAAGACTATAAAAA	0.353000													13	68					0	0	1	0	0
KMT2A	4297	broad.mit.edu	37	11	118348836	118348836	+	Silent	SNP	G	G	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr11:118348836G>T	ENST00000534358.1	+	5	3512	c.3489G>T	c.(3487-3489)gtG>gtT	p.V1163V	KMT2A_ENST00000354520.4_Silent_p.V1163V|KMT2A_ENST00000389506.5_Silent_p.V1163V	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		GCTGCCAGGTGCCTGAGGACT	0.498000													4	104					1	1	1	1	0
RBM12B	389677	broad.mit.edu	37	8	94747051	94747051	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr8:94747051G>A	ENST00000399300.2	-	3	1801	c.1588C>T	c.(1588-1590)Cag>Tag	p.Q530*	RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Nonsense_Mutation_p.Q530*	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	530							nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			TCCTCTAGCTGATGTCTAAAG	0.493000													10	65					0	0	1	0	0
CNOT3	4849	broad.mit.edu	37	19	54656052	54656052	+	Silent	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr19:54656052G>A	ENST00000406403.1	+	13	3298	c.1695G>A	c.(1693-1695)ctG>ctA	p.L565L	CNOT3_ENST00000358389.3_Silent_p.L384L|CNOT3_ENST00000496327.1_3'UTR|CNOT3_ENST00000221232.5_Silent_p.L565L			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	565	Pro-rich.				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CGCTGCACCTGACCGAGCGAG	0.667000													10	28					0	0	1	0	0
USP9Y	8287	broad.mit.edu	37	Y	14847563	14847563	+	Silent	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chrY:14847563C>T	ENST00000338981.3	+	8	1620	c.675C>T	c.(673-675)ctC>ctT	p.L225L	USP9Y_ENST00000426564.2_3'UTR	NM_004654.3	NP_004645.2	O00507	USP9Y_HUMAN	ubiquitin specific peptidase 9, Y-linked	225					BMP signaling pathway|protein deubiquitination|spermatogenesis|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			kidney(1)|large_intestine(8)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						TAGTGGATCTCATCAATAAAT	0.308000													3	6					0	0	1	0	0
CNOT3	4849	broad.mit.edu	37	19	54657241	54657241	+	Silent	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr19:54657241G>A	ENST00000358389.3	+	18	2569	c.1715G>A	c.(1714-1716)tGa>tAa	p.*572*	CNOT3_ENST00000406403.1_Intron|CNOT3_ENST00000496327.1_3'UTR|CNOT3_ENST00000221232.5_Intron			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	0	Pro-rich.				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					AAGCTTCTCTGAAAGCAATTT	0.468000													9	32					0	0	1	0	0
RBM43	375287	broad.mit.edu	37	2	152109296	152109296	+	Silent	SNP	A	A	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr2:152109296A>G	ENST00000331426.5	-	3	439	c.288T>C	c.(286-288)tcT>tcC	p.S96S		NM_198557.2	NP_940959.1	Q6ZSC3	RBM43_HUMAN	RNA binding motif protein 43	96	RRM.						nucleotide binding|RNA binding			endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(221;0.131)		AGACTCTGAGAGAGACTGTGA	0.423000													15	64					0	0	1	0	0
ACP6	51205	broad.mit.edu	37	1	147131848	147131848	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr1:147131848G>C	ENST00000369238.6	-	2	709	c.262C>G	c.(262-264)Cag>Gag	p.Q88E	ACP6_ENST00000392988.2_Missense_Mutation_p.Q88E	NM_016361.3	NP_057445.4	Q9NPH0	PPA6_HUMAN	acid phosphatase 6, lysophosphatidic						lipid metabolic process	extracellular region|mitochondrion	acid phosphatase activity|protein binding			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(4)|prostate(1)	16	all_hematologic(923;0.0276)					TAATCAAACTGAGTTTGGGGT	0.433000													3	65					0	0	1	0	0
RPS6KA6	27330	broad.mit.edu	37	X	83361431	83361431	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chrX:83361431G>A	ENST00000262752.2	-	15	1314	c.1307C>T	c.(1306-1308)tCc>tTc	p.S436F	RPS6KA6_ENST00000543399.1_Missense_Mutation_p.S436F|RPS6KA6_ENST00000495332.1_5'UTR	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	436	Protein kinase 2.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						AACAGAGTAGGAGCCAACACC	0.358000													8	10					0	0	1	0	0
CYP4F12	66002	broad.mit.edu	37	19	15794549	15794549	+	Silent	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr19:15794549C>T	ENST00000550308.1	+	7	1274	c.894C>T	c.(892-894)ttC>ttT	p.F298F	CYP4F12_ENST00000324632.10_Silent_p.F298F	NM_023944.3	NP_076433			cytochrome P450, family 4, subfamily F, polypeptide 12											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					CTTTGGATTTCATTGATGTGC	0.438000													19	112					0	0	1	0	0
ZNF486	90649	broad.mit.edu	37	19	20308213	20308213	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr19:20308213C>G	ENST00000335117.8	+	4	751	c.694C>G	c.(694-696)Cat>Gat	p.H232D	CTC-260E6.6_ENST00000593655.1_RNA|CTC-260E6.6_ENST00000585498.1_RNA|CTC-260E6.6_ENST00000586657.1_RNA	NM_052852.3	NP_443084.2	Q96H40	ZN486_HUMAN	zinc finger protein 486	232					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11						TAAGATAACTCATACTAGAGA	0.363000													18	77					0	0	1	0	0
MAST2	23139	broad.mit.edu	37	1	46295205	46295205	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr1:46295205G>C	ENST00000361297.2	+	3	703	c.420G>C	c.(418-420)atG>atC	p.M140I	MAST2_ENST00000372009.2_Missense_Mutation_p.M140I	NM_015112.2	NP_055927.2	Q6P0Q8	MAST2_HUMAN	microtubule associated serine/threonine kinase 2	140					regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					TGGTTCGAATGAGAAACCAGT	0.473000													11	40					0	0	1	0	0
UNC5B	219699	broad.mit.edu	37	10	73053170	73053170	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr10:73053170C>T	ENST00000335350.6	+	12	2197	c.1781C>T	c.(1780-1782)tCa>tTa	p.S594L	UNC5B_ENST00000373192.4_Missense_Mutation_p.S583L	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	594	ZU5.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						AGCCCGCTTTCAGAAGGGACC	0.652000													13	39					0	0	1	0	0
CELF2	10659	broad.mit.edu	37	10	11047380	11047380	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr10:11047380G>A	ENST00000379261.4	+	1	122	c.30G>A	c.(28-30)atG>atA	p.M10I	CELF2_ENST00000416382.2_Missense_Mutation_p.M10I	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	10	Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						CTGTTACTATGAGAAATGAAG	0.413000													32	105					0	0	1	0	0
GPHN	10243	broad.mit.edu	37	14	67525466	67525466	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr14:67525466G>A	ENST00000478722.1	+	11	2228	c.1107G>A	c.(1105-1107)atG>atA	p.M369I	GPHN_ENST00000543237.1_Missense_Mutation_p.M382I|GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000459628.1_Missense_Mutation_p.M351I|GPHN_ENST00000305960.9_Missense_Mutation_p.M305I|GPHN_ENST00000315266.5_Missense_Mutation_p.M336I	NM_020806.4	NP_065857.1	Q9NQX3	GEPH_HUMAN	gephyrin	336	MPT adenylyltransferase.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity			large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		TCCTGGAGATGACTCCGGTGC	0.413000			T	MLL	AL								6	81					0	0	1	0	0
RP11-93K22.13	0	broad.mit.edu	37	3	129811026	129811026	+	RNA	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr3:129811026G>A	ENST00000514010.1	-	0	157				ALG1L2_ENST00000507643.1_RNA																							GCGTCTCCACGAGCGGCCAGC	0.617000													3	23					0	0	1	0	0
GREB1	9687	broad.mit.edu	37	2	11758537	11758537	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr2:11758537C>T	ENST00000381486.2	+	22	3836	c.3536C>T	c.(3535-3537)cCc>cTc	p.P1179L	GREB1_ENST00000396123.1_Missense_Mutation_p.P177L|GREB1_ENST00000234142.5_Missense_Mutation_p.P1179L	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1179	Ser-rich.					integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		AAACAGAGGCCCCGGGCAAGT	0.721000													4	5					0	0	1	0	0
AUTS2	26053	broad.mit.edu	37	7	69064835	69064835	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr7:69064835G>A	ENST00000342771.4	+	1	517	c.196G>A	c.(196-198)Gcc>Acc	p.A66T	AUTS2_ENST00000406775.2_Missense_Mutation_p.A66T|AUTS2_ENST00000403018.2_Missense_Mutation_p.A66T	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	66										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		CCCGTCCTCCGCCCCGTCCCG	0.687000													3	14					0	0	1	0	0
CYP2F1	1572	broad.mit.edu	37	19	41622169	41622169	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr19:41622169G>C	ENST00000331105.2	+	2	148	c.76G>C	c.(76-78)Gat>Cat	p.D26H		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	26					naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						AAGCTCAAGAGATAAGGGAAA	0.562000													24	97					0	0	1	0	0
PSMD6	9861	broad.mit.edu	37	3	64004503	64004503	+	Silent	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr3:64004503G>C	ENST00000492933.1	-	5	919	c.867C>G	c.(865-867)ctC>ctG	p.L289L	PSMD6_ENST00000394431.2_Silent_p.L198L|PSMD6_ENST00000482510.1_Silent_p.L197L|PSMD6_ENST00000295901.4_Silent_p.L236L	NM_001271779.1	NP_001258708.1	Q15008	PSMD6_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 6	236	PCI.				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|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	ATPase activity|protein binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(1)	13		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000805)|Kidney(15;0.00188)|KIRC - Kidney renal clear cell carcinoma(15;0.00212)		CCTTTTCCCTGAGATCTGGTC	0.274000													8	24					0	0	1	0	0
SUMO2	6613	broad.mit.edu	37	17	73177191	73177191	+	Silent	SNP	T	T	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr17:73177191T>C	ENST00000420826.2	-	2	262	c.114A>G	c.(112-114)acA>acG	p.T38T	SUMO2_ENST00000578238.1_5'UTR|SUMO2_ENST00000314523.7_Silent_p.T38T	NM_006937.3	NP_008868.3	P61956	SUMO2_HUMAN	small ubiquitin-like modifier 2	38	Ubiquitin-like.				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation	nucleus	ubiquitin protein ligase binding			NS(1)	1	all_lung(278;0.14)|Lung NSC(278;0.168)					TACTAAGTGGTGTATGCCTCT	0.363000													3	48					0	0	1	0	0
C11orf24	53838	broad.mit.edu	37	11	68030116	68030116	+	Missense_Mutation	SNP	G	G	A	rs150492129	byFrequency	TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr11:68030116G>A	ENST00000304271.6	-	4	749	c.347C>T	c.(346-348)gCg>gTg	p.A116V	C11orf24_ENST00000530166.1_5'UTR|C11orf24_ENST00000533310.1_Intron	NM_022338.3	NP_071733.1	Q96F05	CK024_HUMAN	chromosome 11 open reading frame 24	116						integral to membrane				endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)	13						AATGGAGGCCGCAGTCGTACT	0.592000													6	17					0	0	1	0	0
AGT	183	broad.mit.edu	37	1	230841752	230841752	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr1:230841752A>G	ENST00000366667.4	-	3	1265	c.1051T>C	c.(1051-1053)Tct>Cct	p.S351P		NM_000029.3	NP_000020.1	P01019	ANGT_HUMAN	angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	351					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation	extracellular space|soluble fraction	acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding			endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641)	TCCAGGTCAGAGGCATAGTGA	0.567000													20	54					0	0	1	0	0
DDX58	23586	broad.mit.edu	37	9	32488167	32488167	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr9:32488167C>G	ENST00000379882.1	-	7	1010	c.853G>C	c.(853-855)Gag>Cag	p.E285Q	DDX58_ENST00000545044.1_Missense_Mutation_p.E127Q|DDX58_ENST00000542096.1_Missense_Mutation_p.E259Q|DDX58_ENST00000379868.1_Missense_Mutation_p.E127Q|DDX58_ENST00000379883.2_Missense_Mutation_p.E330Q			O95786	DDX58_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 58	330	Helicase ATP-binding.				detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		GGGACATTCTCAGCTGTTGCT	0.393000													9	56					0	0	1	0	0
ADRBK1	156	broad.mit.edu	37	11	67049005	67049005	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr11:67049005C>G	ENST00000308595.5	+	9	1013	c.723C>G	c.(721-723)atC>atG	p.I241M	ADRBK1_ENST00000526285.1_Missense_Mutation_p.I241M	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	241	Protein kinase.				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	ACGAGCGCATCATGCTCTCGC	0.662000													7	29					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49421090	49421090	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr12:49421090C>A	ENST00000301067.7	-	48	14658	c.14659G>T	c.(14659-14661)Gag>Tag	p.E4887*		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		GTGGGTGGCTCTGGGGCGGGG	0.607000													17	79					1.50039e-11	1.59765e-11	1	1	0
RC3H1	149041	broad.mit.edu	37	1	173947732	173947732	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr1:173947732C>G	ENST00000367696.2	-	7	1347	c.996G>C	c.(994-996)caG>caC	p.Q332H	RC3H1_ENST00000367694.2_Missense_Mutation_p.Q332H|RC3H1_ENST00000258349.4_Missense_Mutation_p.Q332H			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	332					cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						CCTGAACACTCTGTGCAAAAG	0.383000													9	51					0	0	1	0	0
CLIP1	6249	broad.mit.edu	37	12	122826046	122826046	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr12:122826046C>G	ENST00000358808.2	-	10	1826	c.1672G>C	c.(1672-1674)Gaa>Caa	p.E558Q	CLIP1_ENST00000361654.4_Missense_Mutation_p.E523Q|CLIP1_ENST00000545889.1_Missense_Mutation_p.E259Q|CLIP1_ENST00000537178.1_Missense_Mutation_p.E523Q|CLIP1_ENST00000540338.1_Missense_Mutation_p.E569Q|CLIP1_ENST00000302528.7_Missense_Mutation_p.E558Q	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	569					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		GAAGTTATTTCTCTCTGGTGG	0.453000													53	177					0	0	1	0	0
CNTROB	116840	broad.mit.edu	37	17	7840088	7840088	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr17:7840088C>G	ENST00000380262.3	+	6	1706	c.781C>G	c.(781-783)Caa>Gaa	p.Q261E	CNTROB_ENST00000380255.3_Missense_Mutation_p.Q261E|CNTROB_ENST00000563694.1_Missense_Mutation_p.Q261E|CNTROB_ENST00000565740.1_Missense_Mutation_p.Q261E	NM_001037144.5	NP_001032221.1	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	261					centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				CAGGGGACTTCAAGAGGAACA	0.552000													6	30					0	0	1	0	0
HTR7	3363	broad.mit.edu	37	10	92508615	92508615	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr10:92508615C>G	ENST00000371721.3	-	2	1518	c.1276G>C	c.(1276-1278)Gag>Cag	p.E426Q	HTR7_ENST00000371719.2_Missense_Mutation_p.E426Q|HTR7_ENST00000336152.3_Missense_Mutation_p.E426Q|HTR7_ENST00000277874.6_Missense_Mutation_p.E426Q			P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	426					blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)	TCAGGTCTCTCTGGCCTCTCA	0.498000													36	46					0	0	1	0	0
CDH19	28513	broad.mit.edu	37	18	64178814	64178814	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr18:64178814C>T	ENST00000262150.2	-	10	1859	c.1567G>A	c.(1567-1569)Gat>Aat	p.D523N	CDH19_ENST00000540086.1_Intron	NM_021153.3	NP_066976.1	Q9H159	CAD19_HUMAN	cadherin 19, type 2	523	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				CCTTGATTATCTATGATTGTA	0.308000													9	59					0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	7494394	7494394	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr3:7494394G>A	ENST00000486284.1	+	6	1549	c.1275G>A	c.(1273-1275)atG>atA	p.M425I	GRM7_ENST00000357716.4_Missense_Mutation_p.M425I|GRM7_ENST00000402647.2_Missense_Mutation_p.M425I|GRM7_ENST00000389336.4_Missense_Mutation_p.M425I|GRM7_ENST00000403881.1_Missense_Mutation_p.M425I|GRM7_ENST00000458641.2_3'UTR	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	425					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding	p.M425I(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	TTCACCACATGAACAAGGATC	0.478000													5	23					0	0	1	0	0
EEA1	8411	broad.mit.edu	37	12	93169883	93169883	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr12:93169883G>C	ENST00000322349.8	-	29	4404	c.4140C>G	c.(4138-4140)atC>atG	p.I1380M		NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	1380					early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						CAGCACAGAAGATATTTCCAC	0.368000													7	27					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7583435	7583435	+	Silent	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr6:7583435C>G	ENST00000379802.3	+	24	6281	c.5940C>G	c.(5938-5940)ctC>ctG	p.L1980L	DSP_ENST00000418664.2_Silent_p.L1381L	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1980	Globular 2.				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)		CAATGCAGCTCTATGAGTGTC	0.502000													4	20					0	0	1	0	0
SNRK	54861	broad.mit.edu	37	3	43381978	43381978	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr3:43381978G>A	ENST00000296088.7	+	5	1235	c.931G>A	c.(931-933)Gac>Aac	p.D311N	SNRK_ENST00000454177.1_Missense_Mutation_p.D311N|SNRK_ENST00000429705.2_Missense_Mutation_p.D311N|SNRK_ENST00000437827.1_Missense_Mutation_p.D105N	NM_017719.4	NP_060189.3	Q9NRH2	SNRK_HUMAN	SNF related kinase	311	UBA.				myeloid cell differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		AGCGGATCGAGACGCCATTGT	0.483000													4	30					0	0	1	0	0
DDX60L	91351	broad.mit.edu	37	4	169336860	169336860	+	Silent	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr4:169336860G>A	ENST00000511577.1	-	21	3064	c.2817C>T	c.(2815-2817)ctC>ctT	p.L939L	DDX60L_ENST00000505890.1_Silent_p.L939L|DDX60L_ENST00000260184.7_Silent_p.L939L			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	939							ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		GGAGAAAGTTGAGACATTTGT	0.299000													3	13					0	0	1	0	0
TAOK1	57551	broad.mit.edu	37	17	27809258	27809258	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr17:27809258G>C	ENST00000261716.3	+	8	1126	c.607G>C	c.(607-609)Gat>Cat	p.D203H	TAOK1_ENST00000536202.1_Missense_Mutation_p.D203H	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	203	Protein kinase.				mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			AGGACAATATGATGGCAAAGT	0.308000													11	71					0	0	1	0	0
SERPING1	710	broad.mit.edu	37	11	57373917	57373917	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr11:57373917G>A	ENST00000403558.1	+	5	1421	c.1055G>A	c.(1054-1056)aGa>aAa	p.R352K	SERPING1_ENST00000278407.4_Missense_Mutation_p.R309K|SERPING1_ENST00000340687.6_Missense_Mutation_p.R309K|SERPING1_ENST00000378323.4_Missense_Mutation_p.R314K|SERPING1_ENST00000378324.2_Missense_Mutation_p.R257K	NM_001032295.1	NP_001027466.1	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G (C1 inhibitor), member 1	309					blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						AAGAAAACCAGAATGGAACCC	0.433000													27	55					0	0	1	0	0
NDUFA8	4702	broad.mit.edu	37	9	124914585	124914585	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr9:124914585C>G	ENST00000537618.1	-	2	263	c.154G>C	c.(154-156)Gat>Cat	p.D52H	NDUFA8_ENST00000373768.3_Missense_Mutation_p.D52H			P51970	NDUA8_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 8, 19kDa	52	CHCH 1.				mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9					NADH(DB00157)	CGCCTCGGATCTTTCTCTTCC	0.458000													14	27					0	0	1	0	0
CARS2	79587	broad.mit.edu	37	13	111296830	111296830	+	Splice_Site	SNP	C	C	A	rs965189		TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr13:111296830C>A	ENST00000257347.4	-	13	1381	c.1318G>T	c.(1318-1320)Gaa>Taa	p.E440*	CARS2_ENST00000535398.1_5'UTR	NM_024537.2	NP_078813.1	Q9HA77	SYCM_HUMAN	cysteinyl-tRNA synthetase 2, mitochondrial (putative)	440			E -> K (in dbSNP:rs965189).		cysteinyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|cysteine-tRNA ligase activity|metal ion binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|prostate(4)|skin(1)	13	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.163)		L-Cysteine(DB00151)	CCTTCAGGTTCCTGTAAGAGA	0.443000													9	36					7.48243e-07	7.74524e-07	1	1	0
PTPN2	5771	broad.mit.edu	37	18	12794399	12794399	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr18:12794399C>A	ENST00000309660.5	-	9	1219	c.1126G>T	c.(1126-1128)Gaa>Taa	p.E376*	PTPN2_ENST00000353319.4_Intron|PTPN2_ENST00000591497.1_Nonsense_Mutation_p.E347*|PTPN2_ENST00000591115.1_Nonsense_Mutation_p.E399*|PTPN2_ENST00000327283.3_Nonsense_Mutation_p.E376*	NM_002828.3	NP_002819.2	P17706	PTN2_HUMAN	protein tyrosine phosphatase, non-receptor type 2	376					interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway	endoplasmic reticulum|nucleoplasm	protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)|skin(3)	13		Lung NSC(161;8.94e-06)				CTTTTTCGTTCATTCTCATTT	0.428000													8	50					0.00307968	0.00312332	1	1	0
SH3BGRL	6451	broad.mit.edu	37	X	80532491	80532491	+	Silent	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chrX:80532491G>A	ENST00000373212.5	+	2	312	c.54G>A	c.(52-54)aaG>aaA	p.K18K	SH3BGRL_ENST00000481106.1_3'UTR	NM_003022.2	NP_003013.1	O75368	SH3L1_HUMAN	SH3 domain binding glutamic acid-rich protein like	18						cytoplasm|nucleus	SH3 domain binding|SH3/SH2 adaptor activity			endometrium(1)|lung(2)|ovary(1)	4		all_lung(315;5.94e-05)				AGATTAAGAAGAAACAACAAG	0.363000													5	13					0	0	1	0	0
UACA	55075	broad.mit.edu	37	15	70991936	70991936	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr15:70991936C>G	ENST00000322954.6	-	2	327	c.142G>C	c.(142-144)Gaa>Caa	p.E48Q	UACA_ENST00000539319.1_Missense_Mutation_p.E48Q|UACA_ENST00000379983.2_Missense_Mutation_p.E35Q|UACA_ENST00000560441.1_Missense_Mutation_p.E35Q	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	48						cytoskeleton|extracellular region				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						GTCACTTTTTCTACATCCCCC	0.378000													15	56					0	0	1	0	0
NCOA1	8648	broad.mit.edu	37	2	24933898	24933898	+	Silent	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr2:24933898G>A	ENST00000405141.1	+	15	3228	c.2517G>A	c.(2515-2517)gcG>gcA	p.A839A	NCOA1_ENST00000395856.3_Silent_p.A839A|NCOA1_ENST00000406961.1_Silent_p.A839A|NCOA1_ENST00000538539.1_Silent_p.A839A|NCOA1_ENST00000348332.3_Silent_p.A839A|NCOA1_ENST00000407230.1_Silent_p.A688A|NCOA1_ENST00000288599.5_Silent_p.A839A			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	839	Interaction with CREBBP.							p.A839A(2)	PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGGATGGTGCGGTCACCAGTG	0.522000			T	PAX3	alveolar rhadomyosarcoma								8	30					0	0	1	0	0
UBR3	130507	broad.mit.edu	37	2	170885907	170885907	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr2:170885907C>G	ENST00000272793.5	+	31	4555	c.4505C>G	c.(4504-4506)tCt>tGt	p.S1502C	UBR3_ENST00000418381.1_Missense_Mutation_p.S1502C|UBR3_ENST00000392631.1_Missense_Mutation_p.S323C|UBR3_ENST00000465630.1_3'UTR			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1502					sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						AGCATTGACTCTGAGTATAAT	0.333000													8	52					0	0	1	0	0
MAP3K1	4214	broad.mit.edu	37	5	56171087	56171087	+	Silent	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr5:56171087C>T	ENST00000399503.3	+	10	1915	c.1915C>T	c.(1915-1917)Ctg>Ttg	p.L639L		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	639					cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		CTGCAGCGTTCTGTCAATGGT	0.507000													8	33					0	0	1	0	0
FAM155A	728215	broad.mit.edu	37	13	108518320	108518320	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr13:108518320T>C	ENST00000375915.2	-	1	763	c.625A>G	c.(625-627)Agc>Ggc	p.S209G		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	209						integral to membrane	binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						GGATGCTTGCTCCTCACCTCC	0.607000													4	42					0	0	1	0	0
OPLAH	26873	broad.mit.edu	37	8	145111642	145111642	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr8:145111642C>T	ENST00000426825.1	-	13	1804	c.1723G>A	c.(1723-1725)Gag>Aag	p.E575K	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	575							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	AGGAAGCTCTCAGTGCTGATC	0.672000													5	14					0	0	1	0	0
SLC7A8	23428	broad.mit.edu	37	14	23597298	23597298	+	Silent	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr14:23597298C>T	ENST00000316902.7	-	10	2096	c.1371G>A	c.(1369-1371)ctG>ctA	p.L457L	SLC7A8_ENST00000529705.2_Silent_p.L352L|SLC7A8_ENST00000453702.1_Silent_p.L254L|SLC7A8_ENST00000422941.2_Silent_p.L233L|SLC7A8_ENST00000469263.1_Intron	NM_012244.3	NP_036376.2	Q9UHI5	LAT2_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 8	457					blood coagulation|cellular amino acid metabolic process|leukocyte migration|metal ion homeostasis|response to toxin	basolateral plasma membrane|cytoplasm|integral to plasma membrane	neutral amino acid transmembrane transporter activity|organic cation transmembrane transporter activity|peptide antigen binding|protein binding|toxin transporter activity			autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1)	24	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.00809)	L-Alanine(DB00160)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)	GCACTCCTGTCAGCATGATGG	0.542000													8	23					0	0	1	0	0
TMEM132D	121256	broad.mit.edu	37	12	129558623	129558623	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr12:129558623C>T	ENST00000422113.2	-	9	3423	c.3097G>A	c.(3097-3099)Gag>Aag	p.E1033K	TMEM132D_ENST00000389441.4_Missense_Mutation_p.E571K	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	1033						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GTTGGGGGCTCACTTTTCTGA	0.473000													14	53					0	0	1	0	0
SPTAN1	6709	broad.mit.edu	37	9	131356617	131356617	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr9:131356617G>A	ENST00000358161.5	+	24	3492	c.3379G>A	c.(3379-3381)Gag>Aag	p.E1127K	SPTAN1_ENST00000475367.1_3'UTR|SPTAN1_ENST00000372731.4_Missense_Mutation_p.E1127K|SPTAN1_ENST00000372739.3_Missense_Mutation_p.E1127K			Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1127					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GGAGCAGGTTGAGGTGCTCCA	0.438000													10	15					0	0	1	0	0
RSPH6A	81492	broad.mit.edu	37	19	46303817	46303817	+	Silent	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr19:46303817G>A	ENST00000221538.3	-	5	1945	c.1803C>T	c.(1801-1803)atC>atT	p.I601I	RSPH6A_ENST00000600188.1_Silent_p.I337I|RSPH6A_ENST00000597055.1_Silent_p.I601I	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	601	Glu-rich.					intracellular				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						CCAGGTGCATGATTTCTGTGG	0.672000													8	11					0	0	1	0	0
CHD4	1108	broad.mit.edu	37	12	6691315	6691315	+	Silent	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr12:6691315C>T	ENST00000309577.6	-	29	4750	c.4587G>A	c.(4585-4587)ttG>ttA	p.L1529L	RP5-940J5.6_ENST00000501075.2_RNA|CHD4_ENST00000544040.1_Silent_p.L1494L|CHD4_ENST00000544484.1_Silent_p.L1526L|CHD4_ENST00000357008.2_Silent_p.L1501L			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1501					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						TCTTGCGAATCAAAGACATAA	0.577000													3	15					0	0	1	0	0
MON2	23041	broad.mit.edu	37	12	62972283	62972283	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr12:62972283G>A	ENST00000393630.3	+	32	4967	c.4576G>A	c.(4576-4578)Gag>Aag	p.E1526K	MON2_ENST00000280379.6_Missense_Mutation_p.E1526K|MON2_ENST00000393629.2_Missense_Mutation_p.E1519K|MON2_ENST00000552738.1_Missense_Mutation_p.E1496K|MON2_ENST00000393632.2_Missense_Mutation_p.E1525K|MON2_ENST00000546600.1_Missense_Mutation_p.E1525K	NM_001278470.1|NM_001278472.1	NP_001265399.1|NP_001265401.1	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	1526					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		TATTGATGTCGAGGTAAGGAG	0.279000													4	25					0	0	1	0	0
MAGI3	260425	broad.mit.edu	37	1	114184792	114184792	+	Silent	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr1:114184792G>A	ENST00000369615.1	+	10	1682	c.1620G>A	c.(1618-1620)caG>caA	p.Q540Q	MAGI3_ENST00000369611.4_Silent_p.Q540Q|MAGI3_ENST00000307546.9_Silent_p.Q540Q|MAGI3_ENST00000369617.4_Silent_p.Q565Q	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	565					apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTCTGGAGCAGAATGGAAAAT	0.493000													16	54					0	0	1	0	0
ARID4A	5926	broad.mit.edu	37	14	58831508	58831508	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr14:58831508G>C	ENST00000355431.3	+	20	3074	c.2701G>C	c.(2701-2703)Gaa>Caa	p.E901Q	ARID4A_ENST00000395168.3_Missense_Mutation_p.E901Q|ARID4A_ENST00000431317.2_Missense_Mutation_p.E901Q|ARID4A_ENST00000348476.3_Missense_Mutation_p.E901Q	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	901					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						CTTAAATTTTGAACAGCACTT	0.348000													10	29					0	0	1	0	0
GRHL1	29841	broad.mit.edu	37	2	10095215	10095215	+	Silent	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr2:10095215C>G	ENST00000324907.9	+	2	328	c.192C>G	c.(190-192)ctC>ctG	p.L64L	GRHL1_ENST00000324883.5_5'UTR|GRHL1_ENST00000405379.2_Silent_p.L64L	NM_198182.2	NP_937825.2	Q9NZI5	GRHL1_HUMAN	grainyhead-like 1 (Drosophila)	64	Transcription activation.				cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)		TGGGCCTGCTCTATGACTACT	0.502000													3	15					0	0	1	0	0
OR10X1	128367	broad.mit.edu	37	1	158548928	158548928	+	Silent	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr1:158548928G>A	ENST00000368150.1	-	1	761	c.762C>T	c.(760-762)ttC>ttT	p.F254F		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	254					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					CACAGGTGGTGAAGGCCTTCT	0.483000													6	81					0	0	1	0	0
C2orf16	84226	broad.mit.edu	37	2	27804562	27804562	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr2:27804562G>A	ENST00000408964.2	+	1	5174	c.5123G>A	c.(5122-5124)aGa>aAa	p.R1708K		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1708	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.							p.R1708I(1)		breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CCCTCTGAGAGAAGACATCAC	0.582000													36	144					0	0	1	0	0
KRT34	3885	broad.mit.edu	37	17	39535670	39535670	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr17:39535670C>T	ENST00000394001.1	-	5	967	c.937G>A	c.(937-939)Gag>Aag	p.E313K		NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN	keratin 34	313	Coil 2.|Rod.				epidermis development	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				TCGATGATCTCCGCCTGGCAG	0.587000													5	48					0	0	1	0	0
ZNF426	79088	broad.mit.edu	37	19	9640120	9640120	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr19:9640120G>A	ENST00000593003.1	-	6	964	c.487C>T	c.(487-489)Cag>Tag	p.Q163*	ZNF426_ENST00000253115.2_Nonsense_Mutation_p.Q201*|ZNF426_ENST00000535489.1_Nonsense_Mutation_p.Q201*|ZNF426_ENST00000589289.1_3'UTR			Q9BUY5	ZN426_HUMAN	zinc finger protein 426	201					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						TTTTCACTCTGATTAAACTCA	0.373000													11	64					0	0	1	0	0
PIK3CG	5294	broad.mit.edu	37	7	106523498	106523498	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr7:106523498G>C	ENST00000359195.3	+	8	2960	c.2650G>C	c.(2650-2652)Gac>Cac	p.D884H	PIK3CG_ENST00000496166.1_Missense_Mutation_p.D884H|PIK3CG_ENST00000440650.2_Missense_Mutation_p.D884H	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	884	PI3K/PI4K.				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						GATTGTGAAAGACGCCACGAC	0.478000													38	138					0	0	1	0	0
MYF5	4617	broad.mit.edu	37	12	81112162	81112162	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr12:81112162C>G	ENST00000228644.3	+	2	679	c.527C>G	c.(526-528)tCc>tGc	p.S176C		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	176					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						CCTGTCTGGTCCAGAAAGAGC	0.403000													8	90					0	0	1	0	0
ZNF133	7692	broad.mit.edu	37	20	18297080	18297080	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr20:18297080C>T	ENST00000377671.3	+	7	2141	c.1582C>T	c.(1582-1584)Cga>Tga	p.R528*	ZNF133_ENST00000538547.1_Nonsense_Mutation_p.R434*|ZNF133_ENST00000401790.1_Nonsense_Mutation_p.R529*|ZNF133_ENST00000402618.2_Nonsense_Mutation_p.R466*|ZNF133_ENST00000396026.3_Nonsense_Mutation_p.R532*|ZNF133_ENST00000462170.1_3'UTR|ZNF133_ENST00000535822.1_Nonsense_Mutation_p.R434*|ZNF133_ENST00000316358.4_Nonsense_Mutation_p.R529*	NM_001083330.2|NM_003434.4	NP_001076799.1|NP_003425	P52736	ZN133_HUMAN	zinc finger protein 133	529						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						AGAGTGCGGGCGAGGCTTTAG	0.607000													10	36					0	0	1	0	0
CHKA	1119	broad.mit.edu	37	11	67836402	67836402	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr11:67836402G>T	ENST00000265689.4	-	7	898	c.872C>A	c.(871-873)tCa>tAa	p.S291*	CHKA_ENST00000356135.5_Nonsense_Mutation_p.S273*	NM_001277.2	NP_001268.2	P35790	CHKA_HUMAN	choline kinase alpha	291					lipid transport|phosphatidylethanolamine biosynthetic process	cytoplasm	ATP binding|choline kinase activity|drug binding|ethanolamine kinase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	13					Choline(DB00122)	TTCAAGCAATGATCTGAAAAG	0.418000													8	28					5.18039e-06	5.34578e-06	1	1	0
PPP6R1	22870	broad.mit.edu	37	19	55758297	55758297	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr19:55758297C>T	ENST00000412770.2	-	2	741	c.175G>A	c.(175-177)Gcc>Acc	p.A59T	PPP6R1_ENST00000587283.1_Missense_Mutation_p.A59T	NM_014931.3	NP_055746.3	Q9UPN7	PP6R1_HUMAN	protein phosphatase 6, regulatory subunit 1	59	Interaction with PPP6C.				regulation of phosphoprotein phosphatase activity	cytoplasm	protein phosphatase binding			breast(1)	1						GTGACCCAGGCCACCATTGCT	0.632000													12	11					0	0	1	0	0
CASQ1	844	broad.mit.edu	37	1	160163635	160163635	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr1:160163635G>C	ENST00000368079.3	+	3	720	c.445G>C	c.(445-447)Gat>Cat	p.D149H	CASQ1_ENST00000368078.3_Missense_Mutation_p.D155H	NM_001231.4	NP_001222.3	P31415	CASQ1_HUMAN	calsequestrin 1 (fast-twitch, skeletal muscle)	155						mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum	calcium ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	21	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GTTTCTGCTTGATGTAAGGAC	0.522000													9	57					0	0	1	0	0
LONP2	83752	broad.mit.edu	37	16	48333579	48333579	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr16:48333579C>T	ENST00000285737.4	+	10	1634	c.1541C>T	c.(1540-1542)aCa>aTa	p.T514I	LONP2_ENST00000535754.1_Missense_Mutation_p.T470I	NM_031490.2	NP_113678.2	Q86WA8	LONP2_HUMAN	lon peptidase 2, peroxisomal	514					misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						CCAGGTTATACACAGGAGGAG	0.423000													4	42					0	0	1	0	0
FNDC3B	64778	broad.mit.edu	37	3	172052792	172052792	+	Missense_Mutation	SNP	C	C	T	rs149280961		TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr3:172052792C>T	ENST00000336824.4	+	15	1799	c.1700C>T	c.(1699-1701)aCg>aTg	p.T567M	FNDC3B_ENST00000416957.1_Missense_Mutation_p.T567M|FNDC3B_ENST00000415807.2_Missense_Mutation_p.T567M	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	567						endoplasmic reticulum|integral to membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		GTTTGTACGACGAGTCCTGAC	0.463000													35	193					0	0	1	0	0
MED16	10025	broad.mit.edu	37	19	872088	872088	+	Silent	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr19:872088G>A	ENST00000312090.6	-	12	2086	c.1936C>T	c.(1936-1938)Ctg>Ttg	p.L646L	MED16_ENST00000325464.1_Silent_p.L646L|MED16_ENST00000395808.3_Silent_p.L646L|MED16_ENST00000589119.1_Silent_p.L646L|MED16_ENST00000269814.4_Intron			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	646					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		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)		CCGTCCCGCAGAAAGCTGTGG	0.657000													13	16					0	0	1	0	0
SEC31A	22872	broad.mit.edu	37	4	83795788	83795788	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr4:83795788G>C	ENST00000432794.1	-	6	778	c.615C>G	c.(613-615)atC>atG	p.I205M	SEC31A_ENST00000443462.2_Missense_Mutation_p.I200M|SEC31A_ENST00000395310.2_Missense_Mutation_p.I205M|SEC31A_ENST00000505984.1_Missense_Mutation_p.I205M|SEC31A_ENST00000509142.1_Missense_Mutation_p.I205M|SEC31A_ENST00000508502.1_Missense_Mutation_p.I205M|SEC31A_ENST00000448323.1_Missense_Mutation_p.I205M|SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000348405.4_Missense_Mutation_p.I205M|SEC31A_ENST00000508479.1_Missense_Mutation_p.I205M|SEC31A_ENST00000326950.5_Missense_Mutation_p.I205M|SEC31A_ENST00000513858.1_Missense_Mutation_p.I205M|SEC31A_ENST00000500777.2_Missense_Mutation_p.I205M|SEC31A_ENST00000311785.7_Missense_Mutation_p.I205M|SEC31A_ENST00000505472.1_Missense_Mutation_p.I205M|SEC31A_ENST00000355196.2_Missense_Mutation_p.I205M			O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	205	Interaction with SEC13.				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				CACTGACTTTGATGATTGGCT	0.413000													10	42					0	0	1	0	0
PHRF1	57661	broad.mit.edu	37	11	608501	608501	+	Silent	SNP	A	A	G	rs144630030	by1000genomes	TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr11:608501A>G	ENST00000264555.5	+	14	3173	c.3045A>G	c.(3043-3045)ggA>ggG	p.G1015G	PHRF1_ENST00000533464.1_Silent_p.G1011G|PHRF1_ENST00000413872.2_Silent_p.G1013G|PHRF1_ENST00000416188.2_Silent_p.G1014G	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	1015	Arg-rich.						RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						GGGAGCACGGACGGACGCGCT	0.667000													10	20					0	0	1	0	0
LZTFL1	54585	broad.mit.edu	37	3	45879475	45879475	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr3:45879475C>G	ENST00000296135.6	-	2	246	c.72G>C	c.(70-72)aaG>aaC	p.K24N	LZTFL1_ENST00000536047.1_Missense_Mutation_p.K7N|LZTFL1_ENST00000490463.1_5'UTR|LZTFL1_ENST00000539217.1_Intron	NM_001276378.1|NM_020347.2	NP_001263307.1|NP_065080.1	Q9NQ48	LZTL1_HUMAN	leucine zipper transcription factor-like 1	24										endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	8				BRCA - Breast invasive adenocarcinoma(193;0.00867)|KIRC - Kidney renal clear cell carcinoma(197;0.0177)|Kidney(197;0.0208)		TCAAGCCTCTCTTTGAACGAG	0.393000													6	31					0	0	1	0	0
PAX5	5079	broad.mit.edu	37	9	36966699	36966699	+	Silent	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr9:36966699C>G	ENST00000358127.4	-	6	701	c.627G>C	c.(625-627)ccG>ccC	p.P209P	PAX5_ENST00000522003.1_Silent_p.P101P|PAX5_ENST00000414447.1_Silent_p.P166P|PAX5_ENST00000523145.1_Silent_p.P101P|PAX5_ENST00000446742.1_Silent_p.P143P|PAX5_ENST00000520281.1_Silent_p.P166P|PAX5_ENST00000377847.2_Silent_p.P209P|PAX5_ENST00000377853.2_Silent_p.P209P|PAX5_ENST00000523241.1_Silent_p.P209P|PAX5_ENST00000520154.1_Silent_p.P209P|PAX5_ENST00000377852.2_Silent_p.P209P	NM_001280554.1|NM_001280556.1|NM_016734.1	NP_001267483.1|NP_001267485.1|NP_057953.1	Q02548	PAX5_HUMAN	paired box 5	209					cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter	nucleus	DNA binding	p.?(41)|p.P209P(1)	PAX5/JAK2(18)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		AGTGGCCGTTCGGCACCGGAG	0.562000			"""T, Mis, D, F, S"""	"""IGH@, ETV6, PML, FOXP1, ZNF521, ELN"""	"""NHL, ALL, B-ALL"""								4	18					0	0	1	0	0
AC096579.13	0	broad.mit.edu	37	2	89157152	89157152	+	RNA	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr2:89157152C>T	ENST00000452230.1	-	0	39				IGKC_ENST00000390237.2_RNA|AC096579.7_ENST00000430694.1_RNA																							TTCAACTGCTCATCAGATGGC	0.488000													3	11					0	0	1	0	0
MED24	9862	broad.mit.edu	37	17	38185150	38185150	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr17:38185150C>G	ENST00000394126.1	-	13	1831	c.1413G>C	c.(1411-1413)aaG>aaC	p.K471N	MED24_ENST00000501516.3_Missense_Mutation_p.K465N|MED24_ENST00000356271.3_Missense_Mutation_p.K433N|MED24_ENST00000394127.2_Missense_Mutation_p.K433N|MED24_ENST00000394128.2_Missense_Mutation_p.K446N			O75448	MED24_HUMAN	mediator complex subunit 24	446					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					AGTCCAGACTCTTCCCGGACA	0.602000													15	37					0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159682278	159682278	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr6:159682278C>T	ENST00000297267.9	+	19	5431	c.5231C>T	c.(5230-5232)tCg>tTg	p.S1744L	FNDC1_ENST00000340366.6_Missense_Mutation_p.S1681L	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1744	Fibronectin type-III 5.					extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		ATCAGCCCTTCGGTCTCATTT	0.348000													9	38					0	0	1	0	0
CPOX	1371	broad.mit.edu	37	3	98304446	98304446	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr3:98304446G>C	ENST00000264193.2	-	5	1229	c.1011C>G	c.(1009-1011)atC>atG	p.I337M		NM_000097.5	NP_000088.3	P36551	HEM6_HUMAN	coproporphyrinogen oxidase	337						mitochondrial intermembrane space	coproporphyrinogen oxidase activity|protein homodimerization activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						CATCAAAAAAGATACCACCAA	0.478000													7	85					0	0	1	0	0
KRT33B	3884	broad.mit.edu	37	17	39525837	39525837	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr17:39525837C>T	ENST00000251646.3	-	1	215	c.166G>A	c.(166-168)Gag>Aag	p.E56K		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	56	Head.					intermediate filament	protein binding|structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				GTCTCCTTCTCGCTGCCATTG	0.632000													17	60					0	0	1	0	0
CGN	57530	broad.mit.edu	37	1	151495934	151495934	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr1:151495934C>G	ENST00000271636.7	+	6	1298	c.1165C>G	c.(1165-1167)Caa>Gaa	p.Q389E		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	383	Glu-rich.|Interacts with ZO-2.					myosin complex|tight junction	actin binding|motor activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			AGAGCCATCCCAAGTTGGGCT	0.547000													100	84					0	0	1	0	0
STAT5A	6776	broad.mit.edu	37	17	40456553	40456553	+	Silent	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr17:40456553G>A	ENST00000345506.4	+	12	1905	c.1263G>A	c.(1261-1263)ctG>ctA	p.L421L	STAT5A_ENST00000590949.1_Silent_p.L421L|STAT5A_ENST00000452307.2_Silent_p.L421L|STAT5A_ENST00000588868.1_Silent_p.L421L|STAT5A_ENST00000546010.2_Silent_p.L391L	NM_003152.3	NP_003143.2	P42229	STA5A_HUMAN	signal transducer and activator of transcription 5A	421					2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		TGCAGTCACTGAAGAGGATCA	0.607000													5	28					0	0	1	0	0
TMPRSS13	84000	broad.mit.edu	37	11	117789537	117789537	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr11:117789537C>G	ENST00000528626.1	-	2	111	c.38G>C	c.(37-39)aGa>aCa	p.R13T	TMPRSS13_ENST00000524993.1_Missense_Mutation_p.R13T|TMPRSS13_ENST00000430170.2_Missense_Mutation_p.R13T|TMPRSS13_ENST00000445164.2_Missense_Mutation_p.R13T|TMPRSS13_ENST00000526090.1_Missense_Mutation_p.R13T	NM_001206789.1	NP_001193718.1	Q9BYE2	TMPSD_HUMAN	transmembrane protease, serine 13	13	12 X 5 AA repeats of A-S-P-A-[GLQR].|Ala-rich.				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		TGAAGGTGTTCTTGCTGGAGA	0.597000													3	30					0	0	1	0	0
GRIN3A	116443	broad.mit.edu	37	9	104432516	104432516	+	Silent	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr9:104432516G>C	ENST00000361820.3	-	3	2778	c.2178C>G	c.(2176-2178)ctC>ctG	p.L726L		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	726					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	TGCCAAACAAGAGGGCATAAC	0.428000													22	53					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	123525968	123525968	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chrX:123525968C>G	ENST00000422452.2	-	28	5685	c.5622G>C	c.(5620-5622)caG>caC	p.Q1874H	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Missense_Mutation_p.Q1867H	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		TTTTCCCACTCTGGTCATATT	0.363000													3	68					0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	68995622	68995622	+	Splice_Site	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr8:68995622G>C	ENST00000288368.4	+	18	2303	c.2026G>C	c.(2026-2028)Gag>Cag	p.E676Q	PREX2_ENST00000529398.1_3'UTR|RP11-403D15.2_ENST00000526901.1_RNA	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	676					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						AAAGCCAAGAGAGTAAGTTGT	0.318000													11	30					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7583213	7583213	+	Silent	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr6:7583213C>T	ENST00000379802.3	+	24	6059	c.5718C>T	c.(5716-5718)atC>atT	p.I1906I	DSP_ENST00000418664.2_Silent_p.I1307I	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1906	Central fibrous rod domain.				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)		AAGCAGAGATCAAGAGAATTG	0.468000													8	40					0	0	1	0	0
ZNF607	84775	broad.mit.edu	37	19	38190635	38190635	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr19:38190635G>C	ENST00000355202.4	-	5	992	c.397C>G	c.(397-399)Caa>Gaa	p.Q133E	ZNF607_ENST00000395835.3_Missense_Mutation_p.Q132E|CTD-2528L19.4_ENST00000586606.2_Intron	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	133					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			TGAATTGTTTGATGTACCATG	0.368000													19	68					0	0	1	0	0
GABRA1	2554	broad.mit.edu	37	5	161322788	161322788	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr5:161322788T>C	ENST00000428797.2	+	10	1328	c.973T>C	c.(973-975)Ttc>Ctc	p.F325L	GABRA1_ENST00000023897.6_Missense_Mutation_p.F325L|GABRA1_ENST00000437025.2_Missense_Mutation_p.F325L|GABRA1_ENST00000444819.1_Missense_Mutation_p.F325L|GABRA1_ENST00000420560.1_Missense_Mutation_p.F325L|GABRA1_ENST00000393943.4_Missense_Mutation_p.F325L	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	325					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	TGCCTTTGTGTTCTCAGCTCT	0.433000													11	49					0	0	1	0	0
APPBP2	10513	broad.mit.edu	37	17	58524943	58524943	+	Silent	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr17:58524943C>T	ENST00000083182.3	-	13	2044	c.1757G>A	c.(1756-1758)tGa>tAa	p.*586*		NM_001282476.1|NM_006380.2	NP_001269405.1|NP_006371.2	Q92624	APBP2_HUMAN	amyloid beta precursor protein (cytoplasmic tail) binding protein 2	0					intracellular protein transport	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus	microtubule motor activity|protein binding	p.*586*(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1)	25	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)			GGTCCTCCCTCAGCAGCTCGG	0.493000													13	63					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	185956617	185956617	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr1:185956617C>G	ENST00000271588.4	+	20	3218	c.2989C>G	c.(2989-2991)Cca>Gca	p.P997A	HMCN1_ENST00000367492.2_Missense_Mutation_p.P997A|HMCN1_ENST00000485744.1_3'UTR	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	997	Ig-like C2-type 7.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGAAGGCATTCCAGTAACTTT	0.423000													13	103					0	0	1	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121676718	121676718	+	Silent	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr7:121676718C>T	ENST00000393386.2	+	18	5760	c.5349C>T	c.(5347-5349)atC>atT	p.I1783I	PTPRZ1_ENST00000449182.1_Silent_p.I916I	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1783	Tyrosine-protein phosphatase 1.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CTGATTATATCAATGCCAATT	0.299000													10	27					0	0	1	0	0
DNAJC13	23317	broad.mit.edu	37	3	132175666	132175666	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr3:132175666C>G	ENST00000260818.6	+	12	1587	c.1339C>G	c.(1339-1341)Cag>Gag	p.Q447E	DNAJC13_ENST00000486798.1_3'UTR	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	447							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						GGCTTTCACTCAGCTTCCAAA	0.438000													8	44					0	0	1	0	0
CCDC180	100499483	broad.mit.edu	37	9	100105692	100105692	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr9:100105692G>C	ENST00000375202.2	+	33	3829	c.2477G>C	c.(2476-2478)gGa>gCa	p.G826A	CCDC180_ENST00000395220.1_3'UTR|CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000529487.1_Missense_Mutation_p.G826A|CCDC180_ENST00000411667.2_Missense_Mutation_p.G823A|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000357054.1_Missense_Mutation_p.G965A					coiled-coil domain containing 180																		ATCTCCAGTGGAAACACTTAT	0.443000													13	35					0	0	1	0	0
NUCB1	4924	broad.mit.edu	37	19	49422541	49422541	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr19:49422541G>A	ENST00000405315.4	+	10	1334	c.1000G>A	c.(1000-1002)Gag>Aag	p.E334K	NUCB1_ENST00000485798.1_Intron|NUCB1_ENST00000407032.1_Missense_Mutation_p.E334K|NUCB1_ENST00000263273.5_Missense_Mutation_p.E334K	NM_006184.5	NP_006175.2	Q02818	NUCB1_HUMAN	nucleobindin 1	334						ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|membrane|microtubule cytoskeleton	calcium ion binding|DNA binding			cervix(1)|endometrium(4)|large_intestine(4)|lung(8)	17		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)		GGAGGGCTGGGAGGTGAGAAC	0.587000													8	13					0	0	1	0	0
NTAN1	123803	broad.mit.edu	37	16	15131904	15131904	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr16:15131904G>C	ENST00000287706.3	-	10	1009	c.917C>G	c.(916-918)tCt>tGt	p.S306C	PDXDC1_ENST00000535621.2_Intron	NM_001270766.1|NM_173474.3	NP_001257695.1|NP_775745.1	Q96AB6	NTAN1_HUMAN	N-terminal asparagine amidase	306						cytoplasm				endometrium(1)|large_intestine(4)|lung(3)	8						TCCTGGAGAAGAGATCTTTTC	0.413000													3	69					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	123525955	123525955	+	Missense_Mutation	SNP	T	T	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chrX:123525955T>G	ENST00000422452.2	-	28	5698	c.5635A>C	c.(5635-5637)Att>Ctt	p.I1879L	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Missense_Mutation_p.I1872L	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		GTTCTTGAAATAATTTTCCCA	0.363000													4	71					0	0	1	0	0
PCDH10	57575	broad.mit.edu	37	4	134072396	134072396	+	Silent	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr4:134072396G>A	ENST00000264360.5	+	1	1927	c.1101G>A	c.(1099-1101)gtG>gtA	p.V367V		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10		Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		AGGAAGCGGTGAGTGAGGGCG	0.632000													14	48					0	0	1	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18956185	18956185	+	Silent	SNP	G	G	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr11:18956185G>T	ENST00000302797.3	-	1	371	c.147C>A	c.(145-147)ctC>ctA	p.L49L	MRGPRX1_ENST00000526914.1_5'UTR	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	49					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CCAGGAGCCAGAGCACAACTG	0.567000													24	70					1.42536e-11	1.51937e-11	1	1	0
ANKRD36B	57730	broad.mit.edu	37	2	98175320	98175320	+	RNA	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr2:98175320C>G	ENST00000443455.1	-	0	1019							Q8N2N9	AN36B_HUMAN	ankyrin repeat domain 36B																		CAGAATCTTTCTCGTCACTTG	0.328000													3	34					0	0	1	0	0
RBM12B	389677	broad.mit.edu	37	8	94747019	94747019	+	Silent	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr8:94747019G>A	ENST00000399300.2	-	3	1833	c.1620C>T	c.(1618-1620)ttC>ttT	p.F540F	RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Silent_p.F540F	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	540							nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			GGGGATGCTTGAAGTTATCCA	0.493000													9	63					0	0	1	0	0
DCTN3	11258	broad.mit.edu	37	9	34616067	34616067	+	Silent	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr9:34616067C>T	ENST00000378913.2	-	4	328	c.312G>A	c.(310-312)gtG>gtA	p.V104V	DCTN3_ENST00000341694.2_Silent_p.V104V|DCTN3_ENST00000378916.4_Intron|DCTN3_ENST00000447983.2_3'UTR|DCTN3_ENST00000477738.2_Silent_p.V104V|DCTN3_ENST00000259632.7_Silent_p.V104V|DCTN3_ENST00000479399.1_5'UTR			O75935	DCTN3_HUMAN	dynactin 3 (p22)	104					cytokinesis|G2/M transition of mitotic cell cycle|mitosis	centrosome|cleavage furrow|condensed chromosome kinetochore|cytosol|dynactin complex|midbody|perinuclear region of cytoplasm|spindle	protein binding|structural molecule activity			large_intestine(1)|skin(1)	2	all_epithelial(49;0.0863)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.0388)		CCAAGGCATTCACCTGCTCCA	0.498000													9	27					0	0	1	0	0
THUMPD3	25917	broad.mit.edu	37	3	9426307	9426307	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr3:9426307C>G	ENST00000345094.3	+	10	1793	c.1459C>G	c.(1459-1461)Caa>Gaa	p.Q487E	THUMPD3_ENST00000515662.2_Missense_Mutation_p.Q487E|THUMPD3_ENST00000452837.2_Missense_Mutation_p.Q487E|SETD5-AS1_ENST00000468186.1_RNA	NM_001114092.1|NM_015453.2	NP_001107564.1|NP_056268.2	Q9BV44	THUM3_HUMAN	THUMP domain containing 3	487							methyltransferase activity|protein binding|RNA binding			NS(1)|central_nervous_system(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	19	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.101)		ACGTACACCTCAAGCTTTTGT	0.463000													26	89					0	0	1	0	0
FNDC7	163479	broad.mit.edu	37	1	109270677	109270677	+	Silent	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr1:109270677C>T	ENST00000370017.3	+	7	1636	c.1359C>T	c.(1357-1359)ttC>ttT	p.F453F	FNDC7_ENST00000271311.2_Silent_p.F454F	NM_001144937.1	NP_001138409.1	Q5VTL7	FNDC7_HUMAN	fibronectin type III domain containing 7	454	Fibronectin type-III 5.					extracellular region				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		CTCCCCAGTTCATAACCACAG	0.478000													26	81					0	0	1	0	0
UBA6	55236	broad.mit.edu	37	4	68511724	68511724	+	Missense_Mutation	SNP	A	A	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr4:68511724A>T	ENST00000322244.5	-	16	1386	c.1327T>A	c.(1327-1329)Tat>Aat	p.Y443N		NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6						protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						AAGGCATCATATCTATCTCCT	0.279000													21	49					0	0	1	0	0
TMEM145	284339	broad.mit.edu	37	19	42819223	42819223	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr19:42819223G>C	ENST00000598766.1	+	6	571	c.571G>C	c.(571-573)Gag>Cag	p.E191Q	TMEM145_ENST00000301204.3_Missense_Mutation_p.E167Q			Q8NBT3	TM145_HUMAN	transmembrane protein 145	167						integral to membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				CTCCGCTGATGAGTTTGGTGA	0.567000													9	36					0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58141727	58141727	+	Silent	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr3:58141727C>T	ENST00000295956.4	+	41	6978	c.6813C>T	c.(6811-6813)atC>atT	p.I2271I	FLNB_ENST00000493452.1_Silent_p.I2078I|FLNB_ENST00000358537.3_Silent_p.I2247I|FLNB_ENST00000357272.4_3'UTR|FLNB_ENST00000348383.5_Silent_p.I2230I|FLNB_ENST00000429972.2_Silent_p.I2260I|FLNB_ENST00000419752.2_Silent_p.I2091I|FLNB_ENST00000490882.1_Silent_p.I2302I	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	2271	Interaction with INPPL1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		ATGAGCACATCCCGGAAAGCC	0.547000													10	44					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64634013	64634013	+	Silent	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr14:64634013C>T	ENST00000357395.3	+	92	16967	c.5823C>T	c.(5821-5823)ctC>ctT	p.L1941L	SYNE2_ENST00000394768.2_Silent_p.L1941L|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000358025.3_Silent_p.L5556L|SYNE2_ENST00000554584.1_Silent_p.L5431L|SYNE2_ENST00000344113.4_Silent_p.L5556L|SYNE2_ENST00000555002.1_Silent_p.L2190L			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5556					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	p.L5556L(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AAGTGAGCCTCAAGCTCCCAC	0.463000													6	38					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62286885	62286885	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr11:62286885C>T	ENST00000378024.4	-	5	15278	c.15004G>A	c.(15004-15006)Gag>Aag	p.E5002K	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5002					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AGCTCTGCCTCAGGAACAGTG	0.413000													18	81					0	0	1	0	0
CERCAM	51148	broad.mit.edu	37	9	131198051	131198051	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr9:131198051C>A	ENST00000372842.1	+	13	4565	c.1421C>A	c.(1420-1422)tCc>tAc	p.S474Y	CERCAM_ENST00000372838.4_Missense_Mutation_p.S552Y			Q5T4B2	GT253_HUMAN	cerebral endothelial cell adhesion molecule	552					cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen|plasma membrane				endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						ACGGAGACATCCTCTCCATGG	0.682000													3	14					6.4e-05	6.55706e-05	1	1	0
KLHL41	10324	broad.mit.edu	37	2	170366589	170366589	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr2:170366589G>T	ENST00000284669.1	+	1	378	c.301G>T	c.(301-303)Gga>Tga	p.G101*	RP11-724O16.1_ENST00000513963.1_Intron|BBS5_ENST00000554017.1_Intron	NM_006063.2	NP_006054.2			kelch-like family member 41																		TCTCAATGACGGAAATGTGCA	0.413000													5	107					1.23904e-05	1.27205e-05	1	1	0
FNBP4	23360	broad.mit.edu	37	11	47772479	47772479	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr11:47772479C>T	ENST00000263773.5	-	6	907	c.895G>A	c.(895-897)Gaa>Aaa	p.E299K	FNBP4_ENST00000534003.1_5'UTR	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	299										NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						TTTTTAACTTCTCGCTTGGCT	0.368000													20	50					0	0	1	0	0
CTR9	9646	broad.mit.edu	37	11	10800269	10800269	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr11:10800269G>A	ENST00000361367.2	+	25	3565	c.3139G>A	c.(3139-3141)Gaa>Aaa	p.E1047K		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	1047	Ser-rich.				histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		AGACGAGGACGAACAACGAAA	0.532000													3	19					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170097642	170097642	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr2:170097642C>T	ENST00000263816.3	-	25	4186	c.3901G>A	c.(3901-3903)Gat>Aat	p.D1301N	LRP2_ENST00000443831.1_Missense_Mutation_p.D1164N	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1301	LDL-receptor class A 14.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TCCTTCTCATCACTCATATCC	0.512000													7	41					0	0	1	0	0
VPS8	23355	broad.mit.edu	37	3	184633212	184633212	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr3:184633212C>T	ENST00000437079.3	+	28	2503	c.2332C>T	c.(2332-2334)Cgg>Tgg	p.R778W	VPS8_ENST00000436792.2_Missense_Mutation_p.R776W|VPS8_ENST00000446204.2_Missense_Mutation_p.R686W|VPS8_ENST00000287546.4_Missense_Mutation_p.R778W	NM_001009921.2	NP_001009921.1	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	778							zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			TCCTTACATTCGGACTTTGCT	0.348000													5	31					0	0	1	0	0
ZNF738	148203	broad.mit.edu	37	19	21558738	21558738	+	Silent	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr19:21558738G>A	ENST00000311015.3	+	4	502	c.291G>A	c.(289-291)aaG>aaA	p.K97K	ZNF738_ENST00000597810.1_Silent_p.K97K|ZNF738_ENST00000380870.4_Silent_p.K97K																kidney(1)|lung(1)	2						GGAATATGAAGAGACACAGTA	0.383000													19	43					0	0	1	0	0
UNC45B	146862	broad.mit.edu	37	17	33486491	33486491	+	Silent	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr17:33486491G>A	ENST00000268876.5	+	8	1003	c.906G>A	c.(904-906)ctG>ctA	p.L302L	UNC45B_ENST00000433649.1_Silent_p.L302L|UNC45B_ENST00000378449.1_Silent_p.L302L|UNC45B_ENST00000591048.1_Silent_p.L302L|UNC45B_ENST00000394570.2_Silent_p.L302L	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	302					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				CGCTGAACCTGCTCAATAAGA	0.527000													13	90					0	0	1	0	0
HEG1	57493	broad.mit.edu	37	3	124739840	124739840	+	Silent	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr3:124739840G>A	ENST00000311127.4	-	4	1115	c.1048C>T	c.(1048-1050)Ctg>Ttg	p.L350L		NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	350						extracellular region|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						ACAGGTCCCAGACTGACCGTC	0.537000													6	27					0	0	1	0	0
FCRL3	115352	broad.mit.edu	37	1	157660198	157660198	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr1:157660198C>T	ENST00000368184.3	-	9	1828	c.1537G>A	c.(1537-1539)Gag>Aag	p.E513K	FCRL3_ENST00000473231.1_5'UTR|FCRL3_ENST00000368186.5_Missense_Mutation_p.E513K	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	513	Ig-like C2-type 6.					integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					GTGTCATCCTCGTGATAAAAC	0.582000													4	69					0	0	1	0	0
CACNA1I	8911	broad.mit.edu	37	22	39966823	39966823	+	Silent	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr22:39966823C>T	ENST00000336649.4	+	1	66	c.66C>T	c.(64-66)acC>acT	p.T22T	CACNA1I_ENST00000402142.3_Silent_p.T22T|CACNA1I_ENST00000407673.1_Silent_p.T22T|CACNA1I_ENST00000400164.3_Silent_p.T22T|CACNA1I_ENST00000401624.1_Silent_p.T22T|CACNA1I_ENST00000404898.1_Silent_p.T22T			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	22					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	CAGGAGTCACCACGGAGCAGC	0.692000													4	11					0	0	1	0	0
SNX32	254122	broad.mit.edu	37	11	65617651	65617651	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr11:65617651G>C	ENST00000308342.6	+	4	708	c.283G>C	c.(283-285)Gag>Cag	p.E95Q		NM_152760.2	NP_689973.2	Q86XE0	SNX32_HUMAN	sorting nexin 32	95	PX.				cell communication|protein transport		phosphatidylinositol binding			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				READ - Rectum adenocarcinoma(159;0.171)		GCCAGACTTTGAGGCTTCGAG	0.602000													10	45					0	0	1	0	0
RBM12B	389677	broad.mit.edu	37	8	94747639	94747639	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr8:94747639G>C	ENST00000399300.2	-	3	1213	c.1000C>G	c.(1000-1002)Ctg>Gtg	p.L334V	RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Missense_Mutation_p.L334V	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	334	RRM 2.						nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			TAGTCTTTCAGAGTCTTGAAC	0.313000													6	59					0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57327067	57327067	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr19:57327067C>T	ENST00000326441.9	-	10	3106	c.2743G>A	c.(2743-2745)Gag>Aag	p.E915K	ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.E791K|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.E915K|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.E789K	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	915					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TTCTTAAACTCACCAGATCCC	0.448000													12	69					0	0	1	0	0
IGHV3-30	28439	broad.mit.edu	37	14	106791180	106791180	+	RNA	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr14:106791180G>C	ENST00000390613.2	-	0	255																											CTTGCCTGGAGCCTGGCGGAC	0.562000													7	365					0	0	1	0	0
ZNF833P	401898	broad.mit.edu	37	19	11759247	11759247	+	RNA	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr19:11759247G>C	ENST00000344893.3	+	0	366					NR_028594.1															endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5						CGTCCCAGAAGAAACTCTACA	0.453000													11	58					0	0	1	0	0
TMCC1	23023	broad.mit.edu	37	3	129389575	129389575	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr3:129389575C>T	ENST00000393238.3	-	4	1449	c.1109G>A	c.(1108-1110)aGa>aAa	p.R370K	TMCC1_ENST00000329333.5_Missense_Mutation_p.R191K|TMCC1_ENST00000426664.2_Missense_Mutation_p.R256K|TMCC1_ENST00000432054.2_Missense_Mutation_p.R46K	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	370						integral to membrane			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						GGCAATCTCTCTGGGCTTTGA	0.527000													5	39					0	0	1	0	0
SERPINC1	462	broad.mit.edu	37	1	173886363	173886363	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr1:173886363C>G	ENST00000367698.3	-	1	153	c.35G>C	c.(34-36)gGa>gCa	p.G12A	SERPINC1_ENST00000494024.1_5'UTR	NM_000488.3	NP_000479.1	P01008	ANT3_HUMAN	serpin peptidase inhibitor, clade C (antithrombin), member 1	12					blood coagulation|regulation of proteolysis	extracellular space|plasma membrane	heparin binding|protease binding|serine-type endopeptidase inhibitor activity			NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25					Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)	TTACCTTTTTCCAGAGGTTAC	0.502000													3	11					0	0	1	0	0
FARP1	10160	broad.mit.edu	37	13	98865514	98865514	+	Silent	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr13:98865514G>A	ENST00000376586.2	+	2	354	c.18G>A	c.(16-18)caG>caA	p.Q6Q	FARP1_ENST00000376581.5_Silent_p.Q6Q|FARP1_ENST00000319562.6_Silent_p.Q6Q|FARP1_ENST00000595437.1_Silent_p.Q6Q			Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	6					regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			AAATAGAGCAGAGGCCGACCC	0.527000													14	75					0	0	1	0	0
RB1	5925	broad.mit.edu	37	13	49051505	49051505	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr13:49051505G>C	ENST00000267163.4	+	26	2816	c.2678G>C	c.(2677-2679)gGa>gCa	p.G893A	RB1_ENST00000484879.1_3'UTR	NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	893	Domain C; mediates interaction with E4F1.|Interaction with LIMD1.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(11)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CATCTCCCAGGAGAGTCCAAA	0.323000		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			4	8					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7584626	7584626	+	Silent	SNP	C	C	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr6:7584626C>A	ENST00000379802.3	+	24	7472	c.7131C>A	c.(7129-7131)atC>atA	p.I2377I	DSP_ENST00000418664.2_Silent_p.I1778I	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2377	Globular 2.				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)		CCGGGGGGATCATTGACCCAA	0.453000													4	34					0.150653	0.150955	1	1	0
SHH	6469	broad.mit.edu	37	7	155596208	155596208	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr7:155596208C>G	ENST00000297261.2	-	3	925	c.775G>C	c.(775-777)Gag>Cag	p.E259Q		NM_000193.2	NP_000184.1	Q15465	SHH_HUMAN	sonic hedgehog	259					androgen metabolic process|axon guidance|branching involved in ureteric bud morphogenesis|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment|embryonic digit morphogenesis|hindbrain development|intein-mediated protein splicing|lymphoid progenitor cell differentiation|metanephric mesenchymal cell proliferation involved in metanephros development|midbrain development|negative regulation of cell migration|negative regulation of kidney smooth muscle cell differentiation|negative regulation of ureter smooth muscle cell differentiation|negative thymic T cell selection|neural crest cell migration|neuroblast proliferation|patterning of blood vessels|positive regulation of alpha-beta T cell differentiation|positive regulation of immature T cell proliferation in thymus|positive regulation of kidney smooth muscle cell differentiation|positive regulation of mesenchymal cell proliferation involved in ureter development|positive regulation of T cell differentiation in thymus|positive regulation of ureter smooth muscle cell differentiation|positive thymic T cell selection|proteolysis|sclerotome development|stem cell development|thymus development|vasculogenesis|ventral midline development	cell surface|extracellular space|membrane raft|plasma membrane	calcium ion binding|laminin-1 binding|peptidase activity|signal transducer activity|zinc ion binding			central_nervous_system(3)|kidney(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00882)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCGCGCGGCTCCCGCGTCTCG	0.711000													5	7					0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43777731	43777731	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr12:43777731C>T	ENST00000389420.3	-	30	4501	c.4502G>A	c.(4501-4503)aGa>aAa	p.R1501K		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1501	TSP type-1 12.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		ACCTTTCAGTCTGCAGTATAC	0.463000													9	33					0	0	1	0	0
BOD1L1	259282	broad.mit.edu	37	4	13603177	13603177	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr4:13603177C>T	ENST00000040738.5	-	10	5482	c.5347G>A	c.(5347-5349)Gat>Aat	p.D1783N		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	1783							DNA binding										TCTGTACCATCATTCACAGAA	0.532000													30	155					0	0	1	0	0
NUP210L	91181	broad.mit.edu	37	1	154072563	154072563	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr1:154072563G>C	ENST00000368559.3	-	14	1947	c.1876C>G	c.(1876-1878)Ctt>Gtt	p.L626V	NUP210L_ENST00000271854.3_Missense_Mutation_p.L626V	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	626						integral to membrane		p.L626V(1)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			GTATGGCCAAGAGATTTAGCT	0.428000													17	67					0	0	1	0	0
SUMO1	7341	broad.mit.edu	37	2	203071986	203071986	+	Nonsense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr2:203071986G>C	ENST00000392246.2	-	5	452	c.296C>G	c.(295-297)tCa>tGa	p.S99*	SUMO1_ENST00000469034.1_5'UTR|SUMO1_ENST00000409712.1_Nonsense_Mutation_p.S75*|SUMO1_ENST00000409205.1_Nonsense_Mutation_p.S60*|SUMO1_ENST00000409368.1_Nonsense_Mutation_p.S144*|SUMO1_ENST00000392244.3_Nonsense_Mutation_p.S74*|SUMO1_ENST00000392245.1_Nonsense_Mutation_p.S99*|SUMO1_ENST00000409181.1_3'UTR|SUMO1_ENST00000409498.2_Nonsense_Mutation_p.S60*	NM_003352.4	NP_003343.1	P63165	SUMO1_HUMAN	small ubiquitin-like modifier 1	99					DNA repair|interferon-gamma-mediated signaling pathway|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|palate development|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein complex assembly|protein sumoylation|regulation of interferon-gamma-mediated signaling pathway|regulation of protein localization	cytoplasm|nuclear membrane|nuclear pore|nuclear speck	ubiquitin protein ligase binding										CTAAACTGTTGAATGACCCCC	0.308000													39	149					0	0	1	0	0
ARRB1	408	broad.mit.edu	37	11	74983986	74983986	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr11:74983986G>C	ENST00000420843.2	-	12	1048	c.951C>G	c.(949-951)atC>atG	p.I317M	ARRB1_ENST00000360025.3_Missense_Mutation_p.I317M|ARRB1_ENST00000393505.4_Missense_Mutation_p.I317M	NM_004041.4	NP_004032.2	P49407	ARRB1_HUMAN	arrestin, beta 1	317					G-protein coupled receptor internalization|histone H4 acetylation|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of histone acetylation|positive regulation of Rho protein signal transduction|positive regulation of transcription from RNA polymerase II promoter|post-Golgi vesicle-mediated transport|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|signal transduction|stress fiber assembly|transcription from RNA polymerase II promoter	chromatin|coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|membrane fraction|nucleus|plasma membrane|pseudopodium|soluble fraction	angiotensin receptor binding|enzyme inhibitor activity|GTPase activator activity|insulin-like growth factor receptor binding|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding			breast(4)|large_intestine(2)|lung(4)|prostate(1)	11						AGGAAACAATGATCCCCAGGA	0.612000													5	19					0	0	1	0	0
LRBA	987	broad.mit.edu	37	4	151773060	151773060	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr4:151773060G>C	ENST00000535741.1	-	23	4275	c.3802C>G	c.(3802-3804)Caa>Gaa	p.Q1268E	LRBA_ENST00000357115.3_Missense_Mutation_p.Q1268E|LRBA_ENST00000510413.1_Missense_Mutation_p.Q1268E|LRBA_ENST00000507224.1_Missense_Mutation_p.Q1268E			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1268						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)					CGATGAGGTTGAGGTGCTTCC	0.393000													7	12					0	0	1	0	0
ERBB3	2065	broad.mit.edu	37	12	56494962	56494962	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr12:56494962G>A	ENST00000267101.3	+	27	3759	c.3319G>A	c.(3319-3321)Gag>Aag	p.E1107K	ERBB3_ENST00000450146.2_Missense_Mutation_p.E464K|ERBB3_ENST00000549832.1_Missense_Mutation_p.E227K|ERBB3_ENST00000553131.1_Missense_Mutation_p.E348K|ERBB3_ENST00000415288.2_Missense_Mutation_p.E1048K	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	1107					cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CTCTGAGGCTGAGCTCCAGGA	0.617000													3	17					0	0	1	0	0
GALK1	2584	broad.mit.edu	37	17	73759142	73759142	+	Silent	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr17:73759142G>A	ENST00000588479.1	-	4	1138	c.564C>T	c.(562-564)ttC>ttT	p.F188F	GALK1_ENST00000225614.2_Silent_p.F188F|GALK1_ENST00000437911.1_Silent_p.F218F			P51570	GALK1_HUMAN	galactokinase 1	188					galactose catabolic process	cytosol	ATP binding|galactokinase activity|galactose binding			endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	5	all_cancers(13;1.5e-07)		all cancers(21;1.03e-06)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			TAAGTGAGATGAACTGGTCCA	0.632000													3	28					0	0	1	0	0
CACNA2D1	781	broad.mit.edu	37	7	81588617	81588617	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr7:81588617C>G	ENST00000356860.3	-	38	3471	c.3133G>C	c.(3133-3135)Gat>Cat	p.D1045H	CACNA2D1_ENST00000535308.1_Missense_Mutation_p.D257H|CACNA2D1_ENST00000356253.5_Missense_Mutation_p.D1057H	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	1057						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	AAGCAGACATCAGGCCCTTTT	0.373000													5	44					0	0	1	0	0
COL1A2	1278	broad.mit.edu	37	7	94057038	94057038	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr7:94057038C>T	ENST00000297268.6	+	49	3838	c.3367C>T	c.(3367-3369)Cgc>Tgc	p.R1123C		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	1123				Missing (in Ref. 17; CAA23761).	axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TGACCAGCCTCGCTCAGCACC	0.552000										HNSCC(75;0.22)			6	31					0	0	1	0	0
SRSF4	6429	broad.mit.edu	37	1	29475690	29475690	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr1:29475690C>G	ENST00000546138.1	-	4	557	c.412G>C	c.(412-414)Gag>Cag	p.E138Q	SRSF4_ENST00000466448.1_5'UTR|SRSF4_ENST00000373795.4_Silent_p.R239R			Q08170	SRSF4_HUMAN	serine/arginine-rich splicing factor 4	0	RRM 2.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1)	27						Tgctccggctccgactctggc	0.592000													7	75					0	0	1	0	0
CHD2	1106	broad.mit.edu	37	15	93489418	93489418	+	Nonsense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr15:93489418C>G	ENST00000394196.4	+	12	2417	c.1349C>G	c.(1348-1350)tCa>tGa	p.S450*	CHD2_ENST00000536619.1_Nonsense_Mutation_p.S463*|CHD2_ENST00000420239.2_Nonsense_Mutation_p.S450*|CHD2_ENST00000557381.1_Nonsense_Mutation_p.S450*	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	450	Chromo 2.				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			AGGAACAACTCAAAAACCATC	0.428000													14	40					0	0	1	0	0
FAM186B	84070	broad.mit.edu	37	12	49994493	49994493	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr12:49994493C>T	ENST00000544141.1	-	4	1259	c.660G>A	c.(658-660)atG>atA	p.M220I	FAM186B_ENST00000551047.1_Intron|FAM186B_ENST00000257894.2_Missense_Mutation_p.M310I|PRPF40B_ENST00000508736.1_3'UTR			Q8IYM0	F186B_HUMAN	family with sequence similarity 186, member B	310						protein complex				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AGGCCTGCTTCATCAGGAGAA	0.542000													26	86					0	0	1	0	0
EXTL1	2134	broad.mit.edu	37	1	26357081	26357081	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr1:26357081C>G	ENST00000374280.3	+	4	1963	c.1096C>G	c.(1096-1098)Ctg>Gtg	p.L366V	EXTL1_ENST00000484339.1_3'UTR	NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	366					skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		CCATACCACTCTGGAGGTGAG	0.582000													6	33					0	0	1	0	0
TRAV14DV4	28669	broad.mit.edu	37	14	22392735	22392735	+	RNA	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr14:22392735G>A	ENST00000390440.2	+	0	333																											GCTACTCATTGAATTTCCAGA	0.458000													17	49					0	0	1	0	0
NCEH1	57552	broad.mit.edu	37	3	172428787	172428787	+	Silent	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr3:172428787C>G	ENST00000538775.1	-	1	221	c.84G>C	c.(82-84)ccG>ccC	p.P28P	NCEH1_ENST00000475381.1_5'UTR|NCEH1_ENST00000273512.3_Silent_p.P28P|NCEH1_ENST00000543711.1_5'UTR	NM_001146276.1	NP_001139748.1	Q6PIU2	NCEH1_HUMAN	neutral cholesterol ester hydrolase 1	0					lipid catabolic process	endoplasmic reticulum|integral to membrane|microsome	carboxylesterase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15						TGCCCTGGCTCGGCTCGCCAG	0.637000											OREG0015927	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	52					0	0	1	0	0
SERPINB6	5269	broad.mit.edu	37	6	2948561	2948561	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr6:2948561G>C	ENST00000380520.1	-	6	3096	c.1102C>G	c.(1102-1104)Ctc>Gtc	p.L368V	SERPINB6_ENST00000380546.3_Missense_Mutation_p.L368V|SERPINB6_ENST00000335686.5_Missense_Mutation_p.L368V|SERPINB6_ENST00000380539.1_Missense_Mutation_p.L368V|SERPINB6_ENST00000380529.1_Missense_Mutation_p.L368V|SERPINB6_ENST00000380524.1_Missense_Mutation_p.L368V			P35237	SPB6_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 6	368					regulation of proteolysis	centrosome|cytosol|protein complex	protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|stomach(1)|upper_aerodigestive_tract(2)	17	Ovarian(93;0.0412)	all_hematologic(90;0.0895)			Drotrecogin alfa(DB00055)	CCGCAGAAGAGAATCCCGTTG	0.597000													6	20					0	0	1	0	0
NOS2	4843	broad.mit.edu	37	17	26114739	26114739	+	Silent	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr17:26114739G>A	ENST00000313735.6	-	5	665	c.432C>T	c.(430-432)atC>atT	p.I144I		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	144					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	TGACAAATTCGATAGCTTGAG	0.532000													20	65					0	0	1	0	0
DUSP21	63904	broad.mit.edu	37	X	44703471	44703471	+	Silent	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chrX:44703471C>T	ENST00000339042.4	+	1	223	c.93C>T	c.(91-93)ctC>ctT	p.L31L		NM_022076.3	NP_071359.3	Q9H596	DUS21_HUMAN	dual specificity phosphatase 21	31	Tyrosine-protein phosphatase.					cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|skin(3)	19						GCTTGTTTCTCAGCAATGGTG	0.532000													13	12					0	0	1	0	0
STAT1	6772	broad.mit.edu	37	2	191850351	191850351	+	Silent	SNP	C	C	T	rs73979321	byFrequency	TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr2:191850351C>T	ENST00000361099.3	-	15	1644	c.1257G>A	c.(1255-1257)acG>acA	p.T419T	STAT1_ENST00000392323.2_Silent_p.T421T|STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000392322.3_Silent_p.T419T|STAT1_ENST00000409465.1_Silent_p.T419T	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	419					activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	TCACCTCATTCGTTCTGGTGC	0.433000													7	22					0	0	1	0	0
HIPK3	10114	broad.mit.edu	37	11	33358682	33358682	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr11:33358682A>G	ENST00000303296.4	+	4	1588	c.1283A>G	c.(1282-1284)aAa>aGa	p.K428R	HIPK3_ENST00000456517.1_Missense_Mutation_p.K428R|HIPK3_ENST00000525975.1_Missense_Mutation_p.K428R|HIPK3_ENST00000534262.1_3'UTR|HIPK3_ENST00000379016.3_Missense_Mutation_p.K428R	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	428	Protein kinase.				anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						GTGGGTACTAAATCCACAAGA	0.299000													10	38					0	0	1	0	0
MYH10	4628	broad.mit.edu	37	17	8384692	8384692	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr17:8384692C>T	ENST00000360416.3	-	38	5350	c.5212G>A	c.(5212-5214)Gag>Aag	p.E1738K	MYH10_ENST00000269243.4_Missense_Mutation_p.E1707K|MYH10_ENST00000379980.4_Missense_Mutation_p.E1723K|MYH10_ENST00000396239.1_Missense_Mutation_p.E1728K	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1707					actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity	p.E1707K(1)		breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						CTCTCCTGCTCGGCGTGTCGG	0.607000													9	23					0	0	1	0	0
ZMIZ1	57178	broad.mit.edu	37	10	81063878	81063878	+	Silent	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr10:81063878C>T	ENST00000334512.5	+	19	2804	c.2232C>T	c.(2230-2232)atC>atT	p.I744I		NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	744					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			AGTGCCCCATCACATTCCGGC	0.612000													6	28					0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28478819	28478819	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr15:28478819C>T	ENST00000261609.7	-	28	4450	c.4342G>A	c.(4342-4344)Gaa>Aaa	p.E1448K		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	1448					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CCTAAATCTTCATGTTTTAAG	0.463000													10	57					0	0	1	0	0
TRUB1	142940	broad.mit.edu	37	10	116698044	116698044	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr10:116698044C>T	ENST00000298746.3	+	1	93	c.32C>T	c.(31-33)tCg>tTg	p.S11L		NM_139169.4	NP_631908.1	Q8WWH5	TRUB1_HUMAN	TruB pseudouridine (psi) synthase family member 1	11					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(2)|kidney(2)|large_intestine(1)|lung(5)|urinary_tract(2)	12		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)		Epithelial(162;0.00879)|all cancers(201;0.0243)		GTGGTGTCTTCGCCGTCTTTG	0.582000													14	13					0	0	1	0	0
KLHL8	57563	broad.mit.edu	37	4	88106495	88106495	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr4:88106495C>T	ENST00000273963.5	-	3	1014	c.673G>A	c.(673-675)Gaa>Aaa	p.E225K	KLHL8_ENST00000425278.2_Intron|KLHL8_ENST00000545252.1_Intron|KLHL8_ENST00000512111.1_Missense_Mutation_p.E225K|KLHL8_ENST00000498875.2_Missense_Mutation_p.E149K	NM_020803.3	NP_065854.3	Q9P2G9	KLHL8_HUMAN	kelch-like family member 8	225										breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		TTTTCATTTTCAATATTTAGA	0.433000													18	66					0	0	1	0	0
CPA2	1358	broad.mit.edu	37	7	129929454	129929454	+	Nonsense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr7:129929454C>G	ENST00000222481.4	+	11	1182	c.1127C>G	c.(1126-1128)tCa>tGa	p.S376*		NM_001869.2	NP_001860.2	P48052	CBPA2_HUMAN	carboxypeptidase A2 (pancreatic)	376					proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Melanoma(18;0.0435)					ATCAAGTACTCATTTGCCTTT	0.517000													10	59					0	0	1	0	0
PML	5371	broad.mit.edu	37	15	74328369	74328369	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr15:74328369C>G	ENST00000395132.2	+	5	1372	c.1276C>G	c.(1276-1278)Ctt>Gtt	p.L426V	PML_ENST00000435786.2_3'UTR|PML_ENST00000359928.4_Intron|PML_ENST00000569965.1_Intron|PML_ENST00000395135.3_Intron|PML_ENST00000354026.6_3'UTR|PML_ENST00000436891.3_3'UTR|PML_ENST00000563500.1_3'UTR|PML_ENST00000564428.1_Intron|PML_ENST00000268058.3_Intron|PML_ENST00000565898.1_Intron|PML_ENST00000268059.6_3'UTR	NM_033247.2	NP_150250.2	P29590	PML_HUMAN	promyelocytic leukemia	425					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						agcccatgctcttacaggccc	0.567000			T	"""RARA, PAX5"""	"""APL, ALL"""								34	107					0	0	1	0	0
SEC24C	9632	broad.mit.edu	37	10	75519926	75519926	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr10:75519926C>G	ENST00000339365.2	+	6	794	c.632C>G	c.(631-633)tCc>tGc	p.S211C	SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000411652.2_Missense_Mutation_p.S69C|SEC24C_ENST00000546025.1_Missense_Mutation_p.S69C|SEC24C_ENST00000345254.4_Missense_Mutation_p.S211C	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	211					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					TCACAGGCCTCCAGCTTCACA	0.637000													3	77					0	0	1	0	0
ZNF302	55900	broad.mit.edu	37	19	35175908	35175908	+	Silent	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr19:35175908C>T	ENST00000505242.1	+	5	1460	c.966C>T	c.(964-966)ttC>ttT	p.F322F	ZNF302_ENST00000505365.2_3'UTR|ZNF302_ENST00000423823.2_Silent_p.F322F|ZNF302_ENST00000457781.2_Silent_p.F322F|ZNF302_ENST00000446502.2_Silent_p.F366F			Q9NR11	ZN302_HUMAN	zinc finger protein 302	401					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GAAAGGCCTTCATTCATAGTT	0.423000													9	27					0	0	1	0	0
UPP2	151531	broad.mit.edu	37	2	158978038	158978038	+	Missense_Mutation	SNP	A	A	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr2:158978038A>T	ENST00000605860.1	+	8	789	c.743A>T	c.(742-744)gAa>gTa	p.E248V	UPP2_ENST00000460456.1_Intron|UPP2_ENST00000005756.4_Missense_Mutation_p.E191V|UPP2_ENST00000409859.4_Missense_Mutation_p.E248V			O95045	UPP2_HUMAN	uridine phosphorylase 2	191					nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|uridine metabolic process	cytosol|type III intermediate filament	uridine phosphorylase activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31						CTGGACAAAGAACTGTCTGAA	0.418000													24	66					0	0	1	0	0
GREM2	64388	broad.mit.edu	37	1	240656296	240656296	+	Silent	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr1:240656296C>T	ENST00000318160.4	-	2	746	c.480G>A	c.(478-480)gtG>gtA	p.V160V		NM_022469.3	NP_071914.3	Q9H772	GREM2_HUMAN	gremlin 2, DAN family BMP antagonist	160	CTCK.				BMP signaling pathway	extracellular space	cytokine activity			endometrium(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	10		all_cancers(173;0.0196)	OV - Ovarian serous cystadenocarcinoma(106;0.0123)			CGCTCAGGTTCACGGACATGC	0.706000													10	39					0	0	1	0	0
ADNP2	22850	broad.mit.edu	37	18	77896442	77896442	+	Missense_Mutation	SNP	G	G	A	rs145603867		TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr18:77896442G>A	ENST00000262198.4	+	4	3601	c.3146G>A	c.(3145-3147)cGt>cAt	p.R1049H		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	1049					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		TATGAAGGCCGTTCTTATGAA	0.353000													7	30					0	0	1	0	0
ZNF282	8427	broad.mit.edu	37	7	148921623	148921623	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr7:148921623G>A	ENST00000262085.3	+	8	2005	c.1900G>A	c.(1900-1902)Gag>Aag	p.E634K	ZNF282_ENST00000479907.1_3'UTR	NM_003575.2	NP_003566.1	Q9UDV7	ZN282_HUMAN	zinc finger protein 282	634					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		CACGTGCGGCGAGTGCGGCAA	0.692000													11	23					0	0	1	0	0
ATXN7	6314	broad.mit.edu	37	3	63976462	63976462	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr3:63976462G>C	ENST00000398590.3	+	11	2162	c.1609G>C	c.(1609-1611)Gac>Cac	p.D537H	ATXN7_ENST00000487717.1_Missense_Mutation_p.D537H|ATXN7_ENST00000538065.1_Missense_Mutation_p.D537H|ATXN7_ENST00000295900.6_Missense_Mutation_p.D537H|ATXN7_ENST00000484332.1_Missense_Mutation_p.D392H	NM_001177387.1	NP_001170858.1	O15265	ATX7_HUMAN	ataxin 7	537					cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		TTACGTGTTTGACTCCAGGTG	0.532000													13	44					0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187628101	187628101	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr4:187628101G>A	ENST00000441802.2	-	2	3090	c.2881C>T	c.(2881-2883)Cag>Tag	p.Q961*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	961	Cadherin 8.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TATCTCACCTGACCAGACTGA	0.473000										HNSCC(5;0.00058)			11	73					0	0	1	0	0
B3GNT7	93010	broad.mit.edu	37	2	232262625	232262625	+	Silent	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr2:232262625G>A	ENST00000287590.5	+	2	456	c.195G>A	c.(193-195)ccG>ccA	p.P65P	B3GNT7_ENST00000479618.1_3'UTR	NM_145236.2	NP_660279.1	Q8NFL0	B3GN7_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7	65					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity	p.P65P(1)		endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)	17		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)		GGAAGAACCCGAAAGATGTGG	0.607000													5	20					0	0	1	0	0
BEST4	266675	broad.mit.edu	37	1	45250955	45250955	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr1:45250955G>C	ENST00000372207.3	-	6	736	c.737C>G	c.(736-738)tCt>tGt	p.S246C		NM_153274.2	NP_695006.1	Q8NFU0	BEST4_HUMAN	bestrophin 4	246						chloride channel complex|plasma membrane	chloride channel activity			large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(166;0.155)					GGCAAAGAAAGAGTAGACGGC	0.597000													4	14					0	0	1	0	0
AGA	175	broad.mit.edu	37	4	178363459	178363459	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr4:178363459G>C	ENST00000264595.2	-	1	198	c.71C>G	c.(70-72)tCc>tGc	p.S24C	AGA_ENST00000506853.1_5'UTR	NM_000027.3|NM_001171988.1	NP_000018.2|NP_001165459.1	P20933	ASPG_HUMAN	aspartylglucosaminidase	24					asparagine catabolic process via L-aspartate|protein deglycosylation|protein maturation	endoplasmic reticulum|intermediate filament cytoskeleton|lysosome|microtubule cytoskeleton	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity			endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|skin(2)	16		all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245)		all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163)		CAGAGGGCTGGAGCAGCGCAC	0.647000													6	26					0	0	1	0	0
VPS13C	54832	broad.mit.edu	37	15	62238074	62238074	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr15:62238074G>C	ENST00000261517.5	-	45	5061	c.4988C>G	c.(4987-4989)tCt>tGt	p.S1663C	VPS13C_ENST00000249837.3_Missense_Mutation_p.S1620C|VPS13C_ENST00000395898.3_Missense_Mutation_p.S1620C|VPS13C_ENST00000395896.4_Missense_Mutation_p.S1663C	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	1663					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TCCCAAAATAGAGACAGCCTA	0.363000													17	71					0	0	1	0	0
EGF	1950	broad.mit.edu	37	4	110897215	110897215	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr4:110897215C>G	ENST00000265171.5	+	13	2322	c.1877C>G	c.(1876-1878)tCt>tGt	p.S626C	EGF_ENST00000509793.1_Missense_Mutation_p.S584C|EGF_ENST00000503392.1_Missense_Mutation_p.S626C	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	626					angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	ATTGAAAGTTCTTCCCTCCAA	0.398000													16	78					0	0	1	0	0
RANBP17	64901	broad.mit.edu	37	5	170380672	170380672	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr5:170380672G>T	ENST00000523189.1	+	13	1704	c.1540G>T	c.(1540-1542)Gag>Tag	p.E514*		NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	514					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CAGTACAGATGAGCATGATGC	0.328000			T	TRD@	ALL								4	38					0.000602214	0.000613231	1	1	0
KCTD20	222658	broad.mit.edu	37	6	36438031	36438031	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr6:36438031G>A	ENST00000373731.2	+	2	548	c.157G>A	c.(157-159)Gaa>Aaa	p.E53K	KCTD20_ENST00000474988.1_Intron|KCTD20_ENST00000536244.1_5'UTR|KCTD20_ENST00000544295.1_5'UTR|KCTD20_ENST00000449081.2_Missense_Mutation_p.E53K	NM_173562.3	NP_775833.2	Q7Z5Y7	KCD20_HUMAN	potassium channel tetramerization domain containing 20	53						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|skin(1)	15						TCCCAGGAATGAAGGTACAGT	0.393000													6	51					0	0	1	0	0
TMEM65	157378	broad.mit.edu	37	8	125332377	125332377	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr8:125332377G>C	ENST00000297632.6	-	6	1105	c.571C>G	c.(571-573)Ctc>Gtc	p.L191V		NM_194291.2	NP_919267.2	Q6PI78	TMM65_HUMAN	transmembrane protein 65	191						integral to membrane				cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|prostate(1)	6	Lung NSC(37;1.18e-11)|Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			TTTGGTGTGAGATCAGGAATT	0.388000													17	55					0	0	1	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79064149	79064149	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr15:79064149G>C	ENST00000388820.4	-	15	2364	c.2154C>G	c.(2152-2154)atC>atG	p.I718M	ADAMTS7_ENST00000566303.1_Intron	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	718	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CGCCCGCTGGGATCAGCCCCA	0.612000													3	19					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7585036	7585036	+	Missense_Mutation	SNP	C	C	G	rs144377593	by1000genomes	TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr6:7585036C>G	ENST00000379802.3	+	24	7882	c.7541C>G	c.(7540-7542)tCc>tGc	p.S2514C	DSP_ENST00000418664.2_Missense_Mutation_p.S1915C	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2514	Globular 2.				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)		TCAGATGGCTCCACCAGGGTG	0.448000													19	52					0	0	1	0	0
FCHO2	115548	broad.mit.edu	37	5	72359714	72359714	+	Silent	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr5:72359714G>A	ENST00000430046.2	+	18	1508	c.1392G>A	c.(1390-1392)ccG>ccA	p.P464P	FCHO2_ENST00000512348.1_Silent_p.P431P|FCHO2_ENST00000341845.6_Silent_p.P464P	NM_001146032.1|NM_138782.2	NP_001139504.1|NP_620137.2	Q0JRZ9	FCHO2_HUMAN	FCH domain only 2	464	Ser-rich.									cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	17		Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;4.6e-53)		TCCCACCTCCGAGGCCTGCTT	0.408000													4	15					0	0	1	0	0
RANGAP1	5905	broad.mit.edu	37	22	41650329	41650329	+	Silent	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr22:41650329G>A	ENST00000455915.2	-	10	2712	c.1243C>T	c.(1243-1245)Ctg>Ttg	p.L415L	RANGAP1_ENST00000356244.3_Silent_p.L415L|RANGAP1_ENST00000405486.1_Silent_p.L415L|RANGAP1_ENST00000407260.4_Silent_p.L360L			P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	415					mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TTAGGGTCCAGAATCTTCCGT	0.562000													10	37					0	0	1	0	0
ASL	435	broad.mit.edu	37	7	65557059	65557059	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr7:65557059C>G	ENST00000304874.9	+	15	1231	c.1129C>G	c.(1129-1131)Ctg>Gtg	p.L377V	AC068533.7_ENST00000450043.1_Missense_Mutation_p.P145R|ASL_ENST00000380839.4_Missense_Mutation_p.L351V|ASL_ENST00000395331.3_Missense_Mutation_p.L357V|ASL_ENST00000395332.3_Missense_Mutation_p.L377V|ASL_ENST00000464970.1_3'UTR	NM_000048.3	NP_000039.2	P04424	ARLY_HUMAN	argininosuccinate lyase	377					arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle	cytosol	argininosuccinate lyase activity			breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	18					L-Arginine(DB00125)	TGCCTATTACCTGGTCCGCAA	0.642000													11	65					0	0	1	0	0
VWA8	23078	broad.mit.edu	37	13	42249377	42249377	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr13:42249377C>G	ENST00000379310.3	-	36	4451	c.4383G>C	c.(4381-4383)aaG>aaC	p.K1461N		NM_015058.1	NP_055873.1			von Willebrand factor A domain containing 8																		ATCGGAGTTTCTTTGATTGAA	0.343000													5	13					0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79034076	79034076	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr5:79034076G>A	ENST00000446378.2	+	2	9519	c.9488G>A	c.(9487-9489)gGa>gAa	p.G3163E		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3163						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GCAGAGGAAGGAGTTCTATCA	0.428000													7	26					0	0	1	0	0
TTLL5	23093	broad.mit.edu	37	14	76330187	76330187	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr14:76330187G>C	ENST00000298832.9	+	29	3709	c.3504G>C	c.(3502-3504)caG>caC	p.Q1168H	TTLL5_ENST00000554510.1_Missense_Mutation_p.Q677H|TTLL5_ENST00000556893.1_Missense_Mutation_p.Q719H|TTLL5_ENST00000557636.1_Missense_Mutation_p.Q1183H	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	1168					protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		TCCTGGACCAGAGTCGAGCCC	0.443000													18	31					0	0	1	0	0
COA3	28958	broad.mit.edu	37	17	40950643	40950643	+	Silent	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr17:40950643G>A	ENST00000328434.7	-	1	79	c.57C>T	c.(55-57)ttC>ttT	p.F19F		NM_001040431.1	NP_001035521.1			cytochrome c oxidase assembly factor 3																		TACGCTGAGCGAACGGGGCCT	0.662000													6	31					0	0	1	0	0
EEF1B2	1933	broad.mit.edu	37	2	207026170	207026170	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr2:207026170G>C	ENST00000392222.2	+	3	679	c.304G>C	c.(304-306)Gac>Cac	p.D102H	EEF1B2_ENST00000392221.1_Missense_Mutation_p.D102H|EEF1B2_ENST00000236957.5_Missense_Mutation_p.D102H	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	102						cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						TGATGACATTGACCTCTTTGG	0.488000													10	52					0	0	1	0	0
CORO6	84940	broad.mit.edu	37	17	27946728	27946728	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr17:27946728C>G	ENST00000345068.5	-	3	475	c.262G>C	c.(262-264)Gac>Cac	p.D88H	CORO6_ENST00000580212.1_Missense_Mutation_p.D88H|CORO6_ENST00000445145.2_Missense_Mutation_p.D88H|CORO6_ENST00000577909.1_Intron|RP11-68I3.2_ENST00000581474.1_RNA|CORO6_ENST00000388767.3_Missense_Mutation_p.D88H|CORO6_ENST00000584969.1_Missense_Mutation_p.D88H			Q6QEF8	CORO6_HUMAN	coronin 6	88					actin cytoskeleton organization	actin cytoskeleton	actin filament binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(2)	14						GGACACCAGTCAATATCCAGC	0.567000													23	56					0	0	1	0	0
SYAP1	94056	broad.mit.edu	37	X	16773177	16773177	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chrX:16773177G>C	ENST00000380155.3	+	6	778	c.685G>C	c.(685-687)Gag>Cag	p.E229Q		NM_032796.3	NP_116185.2	Q96A49	SYAP1_HUMAN	synapse associated protein 1	229										endometrium(3)|lung(4)|pancreas(1)|prostate(1)|skin(1)	10	Hepatocellular(33;0.0997)					AGGGAAGGAGGAGAAGAGCAA	0.517000													21	28					0	0	1	0	0
FAM216A	29902	broad.mit.edu	37	12	110922933	110922933	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr12:110922933G>A	ENST00000377673.5	+	3	747	c.235G>A	c.(235-237)Gag>Aag	p.E79K		NM_013300.2	NP_037432.2	Q8WUB2	CL024_HUMAN	family with sequence similarity 216, member A	79																	TAAGCTGCAAGAGTTATGGAA	0.383000													14	53					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196722155	196722155	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr2:196722155G>C	ENST00000312428.6	-	44	8460	c.8360C>G	c.(8359-8361)tCt>tGt	p.S2787C		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2787	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GGCCGCTGTAGAAGCATTTCT	0.358000													15	48					0	0	1	0	0
ABCC5	10057	broad.mit.edu	37	3	183707101	183707101	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr3:183707101G>A	ENST00000334444.6	-	3	440	c.200C>T	c.(199-201)tCt>tTt	p.S67F	ABCC5_ENST00000427120.2_Missense_Mutation_p.S67F|ABCC5_ENST00000265586.6_Missense_Mutation_p.S67F|ABCC5_ENST00000392579.2_Missense_Mutation_p.S67F|ABCC5_ENST00000382494.2_Missense_Mutation_p.S67F	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	67						integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TCTGAGCTGAGAATGCATGGA	0.532000													11	67					0	0	1	0	0
MEGF8	1954	broad.mit.edu	37	19	42865107	42865107	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr19:42865107G>C	ENST00000334370.4	+	31	6103	c.5468G>C	c.(5467-5469)gGg>gCg	p.G1823A	MEGF8_ENST00000251268.6_Missense_Mutation_p.G1890A	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1890						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				AACCAGTCTGGGGCCTGCACC	0.672000													7	32					0	0	1	0	0
MBD2	8932	broad.mit.edu	37	18	51731376	51731376	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr18:51731376G>A	ENST00000256429.3	-	2	922	c.694C>T	c.(694-696)Caa>Taa	p.Q232*	MBD2_ENST00000583046.1_Nonsense_Mutation_p.Q232*|MBD2_ENST00000398398.2_Nonsense_Mutation_p.Q232*	NM_003927.4	NP_003918.1	Q9UBB5	MBD2_HUMAN	methyl-CpG binding domain protein 2	232					transcription, DNA-dependent		C2H2 zinc finger domain binding|methyl-CpG binding|satellite DNA binding			breast(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8				Colorectal(16;0.0212)|READ - Rectum adenocarcinoma(32;0.188)	Hexobarbital(DB01355)	ACCTTATTTTGATTGAGAGGA	0.348000													28	86					0	0	1	0	0
MAP3K2	10746	broad.mit.edu	37	2	128066254	128066254	+	Nonsense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr2:128066254G>C	ENST00000409947.1	-	16	1823	c.1541C>G	c.(1540-1542)tCa>tGa	p.S514*	MAP3K2_ENST00000344908.5_Nonsense_Mutation_p.S514*			Q9Y2U5	M3K2_HUMAN	mitogen-activated protein kinase kinase kinase 2	514	Protein kinase.				activation of JUN kinase activity|cellular response to mechanical stimulus	nucleus	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein kinase binding			central_nervous_system(1)|large_intestine(1)|lung(3)|ovary(2)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0706)		TCCTGTCCCTGAGAGACAGAT	0.478000													34	92					0	0	1	0	0
ATRN	8455	broad.mit.edu	37	20	3543082	3543082	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr20:3543082G>A	ENST00000262919.5	+	9	1675	c.1607G>A	c.(1606-1608)cGa>cAa	p.R536Q	ATRN_ENST00000446916.2_Missense_Mutation_p.R536Q	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	536					inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						GATCTCTACCGATATGATGTG	0.438000													13	35					0	0	1	0	0
ZNF70	7621	broad.mit.edu	37	22	24086120	24086120	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr22:24086120C>T	ENST00000341976.3	-	2	1668	c.1208G>A	c.(1207-1209)cGg>cAg	p.R403Q		NM_021916.2	NP_068735.1	Q9UC06	ZNF70_HUMAN	zinc finger protein 70	403						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						GAGGGCTGACCGGTGCCGGAA	0.592000													23	88					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152282755	152282755	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr1:152282755C>G	ENST00000368799.1	-	3	4642	c.4607G>C	c.(4606-4608)gGa>gCa	p.G1536A	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1536	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACTTCTGGGTCCTGACTGCCC	0.572000									Ichthyosis				48	277					0	0	1	0	0
CHFR	55743	broad.mit.edu	37	12	133435664	133435664	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr12:133435664C>T	ENST00000266880.7	-	8	1000	c.937G>A	c.(937-939)Gac>Aac	p.D313N	CHFR_ENST00000541837.2_5'UTR|CHFR_ENST00000432561.2_Missense_Mutation_p.D313N|CHFR_ENST00000450056.2_Missense_Mutation_p.D301N|CHFR_ENST00000443047.2_Missense_Mutation_p.D221N|CHFR_ENST00000315585.7_Missense_Mutation_p.D272N			Q96EP1	CHFR_HUMAN	checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase	313					cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination	PML body	nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.D272N(1)|p.D313N(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)		CTCACGCAGTCGTGCAGCAGG	0.612000													8	20					0	0	1	0	0
CHID1	66005	broad.mit.edu	37	11	902253	902253	+	Silent	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr11:902253C>T	ENST00000449825.1	-	4	695	c.339G>A	c.(337-339)ctG>ctA	p.L113L	CHID1_ENST00000454838.2_Silent_p.L138L|CHID1_ENST00000429789.2_Silent_p.L113L|CHID1_ENST00000528581.1_Silent_p.L138L|CHID1_ENST00000323541.7_Silent_p.L143L|CHID1_ENST00000526714.1_5'UTR|CHID1_ENST00000323578.8_Silent_p.L113L|CHID1_ENST00000436108.2_Silent_p.L113L|CHID1_ENST00000336845.5_Silent_p.L138L	NM_001142675.1	NP_001136147.1	Q9BWS9	CHID1_HUMAN	chitinase domain containing 1	113					chitin catabolic process|innate immune response	extracellular region|lysosome	cation binding|chitinase activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	13		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.48e-25)|Epithelial(43;3.75e-24)|BRCA - Breast invasive adenocarcinoma(625;4.65e-05)|Lung(200;0.0624)|LUSC - Lung squamous cell carcinoma(625;0.0735)		CACGTCTCTTCAGCTGCAGCC	0.552000													7	24					0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100791181	100791181	+	Silent	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr8:100791181G>A	ENST00000358544.2	+	42	7887	c.7776G>A	c.(7774-7776)gtG>gtA	p.V2592V	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.V2567V	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2592					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			ACTGCACCGTGATAGTTGATT	0.443000													10	65					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64408435	64408435	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr14:64408435C>T	ENST00000358025.3	+	4	394	c.164C>T	c.(163-165)tCc>tTc	p.S55F	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Missense_Mutation_p.S55F|SYNE2_ENST00000356081.3_Missense_Mutation_p.S55F|SYNE2_ENST00000344113.4_Missense_Mutation_p.S55F|SYNE2_ENST00000341472.5_Missense_Mutation_p.S55F	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	55	Actin-binding.|CH 1.				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TCAGTTATATCCGACCTATTC	0.378000													4	56					0	0	1	0	0
BCAR3	8412	broad.mit.edu	37	1	94048270	94048270	+	Nonsense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr1:94048270G>C	ENST00000370244.1	-	9	1562	c.1274C>G	c.(1273-1275)tCa>tGa	p.S425*	BCAR3_ENST00000370247.3_Nonsense_Mutation_p.S334*|BCAR3_ENST00000539242.1_Nonsense_Mutation_p.S101*|BCAR3_ENST00000370243.1_Nonsense_Mutation_p.S425*|BCAR3_ENST00000260502.6_Nonsense_Mutation_p.S425*|BCAR3_ENST00000466632.1_5'UTR	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	425					response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		GTTGGCCTCTGAGTTGAGCCA	0.602000													10	29					0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91631431	91631431	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr7:91631431G>A	ENST00000359028.2	+	9	2461	c.2236G>A	c.(2236-2238)Gaa>Aaa	p.E746K	AKAP9_ENST00000356239.3_Missense_Mutation_p.E734K|AKAP9_ENST00000358100.2_Missense_Mutation_p.E746K			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	746	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ACTCAGACAAGAAGAAAAAGA	0.294000			T	BRAF	papillary thyroid								12	26					0	0	1	0	0
ARHGAP20	57569	broad.mit.edu	37	11	110450584	110450584	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr11:110450584G>C	ENST00000260283.4	-	16	3370	c.3086C>G	c.(3085-3087)tCt>tGt	p.S1029C	ARHGAP20_ENST00000529591.1_Missense_Mutation_p.S572C|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.S993C|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.S993C|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.S1003C|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.S1006C|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.S1003C	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	1029					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		AAGAGTTACAGAATGCATTTG	0.512000													13	63					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103355070	103355070	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr1:103355070C>A	ENST00000358392.2	-	59	4758	c.4441G>T	c.(4441-4443)Gaa>Taa	p.E1481*	COL11A1_ENST00000353414.4_Nonsense_Mutation_p.E1430*|COL11A1_ENST00000370096.3_Nonsense_Mutation_p.E1469*|COL11A1_ENST00000512756.1_Nonsense_Mutation_p.E1353*	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1469	Triple-helical 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)		TCACCTTTTTCCCCTTGTTCT	0.408000													9	67					1.76689e-08	1.85191e-08	1	1	0
SLC12A8	84561	broad.mit.edu	37	3	124826857	124826857	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr3:124826857G>T	ENST00000423114.2	-	10	1259	c.1260C>A	c.(1258-1260)ttC>ttA	p.F420L	SLC12A8_ENST00000465475.1_5'UTR|SLC12A8_ENST00000430155.2_Missense_Mutation_p.F192L|SLC12A8_ENST00000469902.1_Missense_Mutation_p.F391L|SLC12A8_ENST00000393469.4_Missense_Mutation_p.F391L|SLC12A8_ENST00000314584.7_Missense_Mutation_p.F144L			A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	391					potassium ion transport	integral to membrane	symporter activity			endometrium(2)|kidney(2)|lung(12)	16						ATGTCAGCATGAAGTTGATGG	0.572000													3	28					0.115264	0.115726	1	1	0
MLF1	4291	broad.mit.edu	37	3	158310291	158310291	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr3:158310291G>C	ENST00000359117.5	+	2	277	c.41G>C	c.(40-42)aGa>aCa	p.R14T	MLF1_ENST00000482628.1_Missense_Mutation_p.R14T|MLF1_ENST00000392822.3_Missense_Mutation_p.R55T|MLF1_ENST00000355893.5_Missense_Mutation_p.R39T|MLF1_ENST00000469452.1_Missense_Mutation_p.R14T|MLF1_ENST00000497004.1_3'UTR|MLF1_ENST00000471745.1_Missense_Mutation_p.R14T|MLF1_ENST00000484955.1_Missense_Mutation_p.R14T|MLF1_ENST00000478894.2_Missense_Mutation_p.R14T	NM_001130156.2	NP_001123628.1	P58340	MLF1_HUMAN	myeloid leukemia factor 1	39					cell cycle arrest|myeloid progenitor cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein domain specific binding			large_intestine(3)	3		Melanoma(1037;0.000458)|Prostate(884;0.0235)|all_neural(597;0.0299)	Lung(72;0.00199)|LUSC - Lung squamous cell carcinoma(72;0.00256)			CCCTTTGGAAGAGACTTGCTC	0.368000			T	NPM1	AML								5	73					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100392931	100392931	+	RNA	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr7:100392931C>G	ENST00000542585.1	+	0	8449				ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TATGGAGCCTCGAGATGCGCC	0.587000													4	11					0	0	1	0	0
TMPRSS11A	339967	broad.mit.edu	37	4	68777186	68777186	+	Silent	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr4:68777186C>G	ENST00000508048.1	-	10	1163	c.1128G>C	c.(1126-1128)ctG>ctC	p.L376L	UBA6-AS1_ENST00000500538.2_RNA|TMPRSS11A_ENST00000396188.2_Silent_p.L377L|TMPRSS11A_ENST00000334830.7_Silent_p.L380L			Q6ZMR5	TM11A_HUMAN	transmembrane protease, serine 11A	380	Peptidase S1.				cell cycle|proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						ACGTATCTTTCAGATCCCTTG	0.363000													14	36					0	0	1	0	0
CCDC36	339834	broad.mit.edu	37	3	49282112	49282112	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr3:49282112C>G	ENST00000438782.1	+	6	714	c.478C>G	c.(478-480)Ctc>Gtc	p.L160V	CCDC36_ENST00000366429.2_Missense_Mutation_p.I143M|CCDC36_ENST00000451634.2_Missense_Mutation_p.I133M|CCDC36_ENST00000452691.2_Missense_Mutation_p.L160V|CCDC36_ENST00000296449.5_Missense_Mutation_p.L160V			Q8IYA8	CCD36_HUMAN	coiled-coil domain containing 36	160										endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|urinary_tract(3)	14				BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262)		TGAGGACCATCTCAGTTCAAG	0.413000													20	51					0	0	1	0	0
BIRC2	329	broad.mit.edu	37	11	102239086	102239086	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr11:102239086G>A	ENST00000227758.2	+	6	2572	c.1173G>A	c.(1171-1173)atG>atA	p.M391I	BIRC2_ENST00000532672.1_Missense_Mutation_p.M370I|BIRC2_ENST00000527910.1_3'UTR|BIRC2_ENST00000530675.1_Missense_Mutation_p.M342I	NM_001166.4|NM_001256163.1	NP_001157.1|NP_001243092.1	Q13490	BIRC2_HUMAN	baculoviral IAP repeat containing 2	391					cell surface receptor linked signaling pathway|cellular component disassembly involved in apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	CD40 receptor complex|cytosol|internal side of plasma membrane	protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0144)		CTGTCATGATGAATACACCTG	0.348000													14	64					0	0	1	0	0
METTL12	751071	broad.mit.edu	37	11	62433912	62433912	+	Missense_Mutation	SNP	C	C	G	rs111425217		TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr11:62433912C>G	ENST00000532971.1	+	3	369	c.112C>G	c.(112-114)Cgg>Ggg	p.R38G	C11orf48_ENST00000532208.1_Intron|METTL12_ENST00000398922.2_3'UTR|C11orf48_ENST00000431002.2_Intron|C11orf48_ENST00000354588.3_Intron	NM_001043229.1	NP_001036694.1	A8MUP2	MTL12_HUMAN	methyltransferase like 12	38						mitochondrion	methyltransferase activity			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	6						TCTCTGGGATCGGCTGCATGC	0.602000													10	40					0	0	1	0	0
TBC1D5	9779	broad.mit.edu	37	3	17446432	17446432	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr3:17446432G>C	ENST00000253692.7	-	6	1962	c.298C>G	c.(298-300)Caa>Gaa	p.Q100E	TBC1D5_ENST00000446818.2_Missense_Mutation_p.Q100E|TBC1D5_ENST00000429383.4_Missense_Mutation_p.Q100E|TBC1D5_ENST00000414318.2_Intron|TBC1D5_ENST00000429924.2_Missense_Mutation_p.Q52E	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	100	Rab-GAP TBC.					intracellular	protein binding|Rab GTPase activator activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						CTTTTGTCTTGAGGAAGAACA	0.274000													4	39					0	0	1	0	0
CCDC38	120935	broad.mit.edu	37	12	96292198	96292198	+	Silent	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr12:96292198C>G	ENST00000344280.3	-	7	1136	c.579G>C	c.(577-579)ctG>ctC	p.L193L	SNRPF_ENST00000552085.1_Intron	NM_182496.2	NP_872302.2	Q502W7	CCD38_HUMAN	coiled-coil domain containing 38	193										breast(1)|endometrium(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TTGCTTTCTTCAGCTCTGCTG	0.418000													28	62					0	0	1	0	0
DSC2	1824	broad.mit.edu	37	18	28672097	28672097	+	Silent	SNP	C	C	T	rs140856220		TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr18:28672097C>T	ENST00000280904.6	-	3	764	c.321G>A	c.(319-321)aaG>aaA	p.K107K	DSC2_ENST00000251081.6_Silent_p.K107K	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	107					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			CAAATATTTTCTTCTTTTCTT	0.338000													7	31					0	0	1	0	0
LPPR1	54886	broad.mit.edu	37	9	104048463	104048463	+	Silent	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr9:104048463G>A	ENST00000374874.3	+	4	769	c.330G>A	c.(328-330)ctG>ctA	p.L110L	LPPR1_ENST00000395056.2_Silent_p.L110L	NM_207299.1	NP_997182.1	Q8TBJ4	LPPR1_HUMAN		110						integral to membrane	catalytic activity										AAACAATTCTGACCGGAGAAT	0.373000													10	42					0	0	1	0	0
ATP8B4	79895	broad.mit.edu	37	15	50152602	50152602	+	Nonsense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr15:50152602G>C	ENST00000284509.6	-	28	3509	c.3368C>G	c.(3367-3369)tCa>tGa	p.S1123*	ATP8B4_ENST00000559829.1_Nonsense_Mutation_p.S1123*	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	1123					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TCTTGAGCTTGACCTGCGGGT	0.512000													11	39					0	0	1	0	0
SRSF4	6429	broad.mit.edu	37	1	29475582	29475582	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr1:29475582C>G	ENST00000373795.4	-	6	1059	c.825G>C	c.(823-825)gaG>gaC	p.E275D	SRSF4_ENST00000466448.1_5'UTR|SRSF4_ENST00000546138.1_3'UTR	NM_005626.4	NP_005617.2	Q08170	SRSF4_HUMAN	serine/arginine-rich splicing factor 4	275	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1)	27						TTTGGATCTTCTCTTCAGCTT	0.532000													23	243					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11047567	11047567	+	RNA	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr21:11047567C>T	ENST00000470054.1	-	0	687									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GTATCACACACTAGCATCTTG	0.338000													8	241					0	0	1	0	0
OVOL2	58495	broad.mit.edu	37	20	18022275	18022275	+	Silent	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr20:18022275G>C	ENST00000278780.6	-	3	656	c.414C>G	c.(412-414)ctC>ctG	p.L138L	OVOL2_ENST00000483661.1_5'UTR	NM_021220.2	NP_067043.2	Q9BRP0	OVOL2_HUMAN	ovo-like zinc finger 2	138					negative regulation of keratinocyte differentiation|negative regulation of Notch signaling pathway|negative regulation of transcription by competitive promoter binding|regulation of cell cycle|regulation of keratinocyte proliferation|transcription, DNA-dependent	nucleus	DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(3)	6						TGTGGCACTTGAGGTGACGGT	0.602000													7	27					0	0	1	0	0
TMEM132E	124842	broad.mit.edu	37	17	32956194	32956194	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr17:32956194G>A	ENST00000321639.5	+	5	1367	c.1039G>A	c.(1039-1041)Gat>Aat	p.D347N		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	347						integral to membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		CATTCAGCGGGATGTGCAAGC	0.592000													5	16					0	0	1	0	0
MAP3K13	9175	broad.mit.edu	37	3	185198096	185198096	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr3:185198096G>C	ENST00000265026.3	+	13	2912	c.2578G>C	c.(2578-2580)Gag>Cag	p.E860Q	MAP3K13_ENST00000443863.1_Missense_Mutation_p.E716Q|MAP3K13_ENST00000535426.1_Missense_Mutation_p.E716Q|TMEM41A_ENST00000475480.1_5'UTR|MAP3K13_ENST00000446828.1_Missense_Mutation_p.E653Q|MAP3K13_ENST00000424227.1_Missense_Mutation_p.E860Q	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase 13	860					activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			TGATGGAGAAGAGGGAAATAC	0.493000													23	61					0	0	1	0	0
C11orf71	54494	broad.mit.edu	37	11	114270825	114270825	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr11:114270825C>A	ENST00000325636.4	-	1	314	c.229G>T	c.(229-231)Gaa>Taa	p.E77*	RBM7_ENST00000540163.1_5'UTR	NM_019021.3	NP_061894.2	Q6IPW1	CK071_HUMAN	chromosome 11 open reading frame 71	77										large_intestine(3)|lung(1)	4		all_cancers(61;1.15e-11)|all_epithelial(67;5.3e-06)|all_hematologic(158;0.000303)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)		BRCA - Breast invasive adenocarcinoma(274;2.6e-06)|Epithelial(105;4.31e-05)|all cancers(92;0.00036)		CCATCTGGTTCCCTTGGGCTC	0.627000													12	45					2.61681e-11	2.78054e-11	1	1	0
FANCA	2175	broad.mit.edu	37	16	89842160	89842160	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr16:89842160C>G	ENST00000389301.3	-	21	1920	c.1890G>C	c.(1888-1890)gaG>gaC	p.E630D	FANCA_ENST00000568369.1_Missense_Mutation_p.E630D|FANCA_ENST00000567284.2_5'UTR	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	630					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		CTTCTGGCTTCTCTTCAGCAG	0.493000			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				3	15					0	0	1	0	0
PCDHAC1	56135	broad.mit.edu	37	5	140308233	140308233	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr5:140308233G>A	ENST00000253807.2	+	1	1756	c.1756G>A	c.(1756-1758)Gag>Aag	p.E586K	PCDHAC1_ENST00000409700.3_Missense_Mutation_p.E586K|PCDHA13_ENST00000409494.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018898.3	NP_061721.2														NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTGGTAGCAGAGGATGCTGA	0.512000													16	61					0	0	1	0	0
TPRN	286262	broad.mit.edu	37	9	140087082	140087082	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr9:140087082G>C	ENST00000409012.4	-	2	1873	c.1787C>G	c.(1786-1788)tCc>tGc	p.S596C	TPRN_ENST00000321773.2_Missense_Mutation_p.S535C	NM_001128228.2	NP_001121700.2	Q4KMQ1	TPRN_HUMAN	taperin	596	Glu-rich.				sensory perception of sound	stereocilium				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	8						ctgctcTAGGGAGCTCTCGGA	0.582000													8	27					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9059559	9059559	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr19:9059559G>C	ENST00000397910.4	-	3	28090	c.27887C>G	c.(27886-27888)tCt>tGt	p.S9296C		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9298	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						GGTCTCTTCAGAGATGCTGGT	0.493000													12	95					0	0	1	0	0
CIRH1A	84916	broad.mit.edu	37	16	69196989	69196989	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr16:69196989C>T	ENST00000563094.1	+	14	1589	c.1555C>T	c.(1555-1557)Cac>Tac	p.H519Y	CIRH1A_ENST00000352319.4_Missense_Mutation_p.H404Y|CIRH1A_ENST00000314423.7_Missense_Mutation_p.H519Y			Q969X6	CIR1A_HUMAN	cirrhosis, autosomal recessive 1A (cirhin)	519						nucleolus	protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(108;0.125)		TTCCCAGCTTCACTGCACGGT	0.478000													26	89					0	0	1	0	0
RUVBL1	8607	broad.mit.edu	37	3	127801372	127801372	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr3:127801372C>A	ENST00000322623.5	-	10	1264	c.1165G>T	c.(1165-1167)Gag>Tag	p.E389*	RUVBL1_ENST00000464873.1_Intron|RUVBL1_ENST00000417360.1_Intron	NM_003707.2	NP_003698.1	Q9Y265	RUVB1_HUMAN	RuvB-like AAA ATPase 1	389					cell division|CenH3-containing nucleosome assembly at centromere|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|mitosis|regulation of growth|regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription, DNA-dependent	Golgi apparatus|Ino80 complex|membrane|microtubule organizing center|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|DNA helicase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26				GBM - Glioblastoma multiforme(114;0.181)		TTCAGTGCCTCCTCACTGATG	0.557000													7	80					0.000157383	0.000160425	1	1	0
IQSEC3	440073	broad.mit.edu	37	12	250398	250398	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr12:250398G>A	ENST00000538872.1	+	5	2218	c.2100G>A	c.(2098-2100)atG>atA	p.M700I	RP11-598F7.4_ENST00000505893.2_RNA|RP11-598F7.4_ENST00000508953.2_RNA|IQSEC3_ENST00000326261.4_Missense_Mutation_p.M700I|IQSEC3_ENST00000382841.2_Missense_Mutation_p.M397I			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	700	SEC7.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		GCCGCCAGATGATTGGAGAGT	0.607000													10	25					0	0	1	0	0
GPHN	10243	broad.mit.edu	37	14	67610141	67610141	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr14:67610141C>T	ENST00000478722.1	+	18	2932	c.1811C>T	c.(1810-1812)tCa>tTa	p.S604L	GPHN_ENST00000543237.1_Missense_Mutation_p.S617L|GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000305960.9_Missense_Mutation_p.S540L|GPHN_ENST00000315266.5_Missense_Mutation_p.S571L	NM_020806.4	NP_065857.1	Q9NQX3	GEPH_HUMAN	gephyrin	571	MPT adenylyltransferase.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity			large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		ATCATCACATCAGGGGGTGTA	0.418000			T	MLL	AL								12	73					0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124175549	124175549	+	Silent	SNP	G	G	A	rs147099139		TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr3:124175549G>A	ENST00000360013.3	+	23	3949	c.3822G>A	c.(3820-3822)gaG>gaA	p.E1274E	KALRN_ENST00000460856.1_Silent_p.E1265E|KALRN_ENST00000240874.3_Silent_p.E1274E	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1274					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TCAATGAAGAGAAGCGGAAGT	0.552000													10	47					0	0	1	0	0
ERBB3	2065	broad.mit.edu	37	12	56493627	56493627	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr12:56493627G>C	ENST00000267101.3	+	25	3383	c.2943G>C	c.(2941-2943)gaG>gaC	p.E981D	ERBB3_ENST00000450146.2_Missense_Mutation_p.E338D|ERBB3_ENST00000549832.1_Missense_Mutation_p.E101D|ERBB3_ENST00000553131.1_Missense_Mutation_p.E222D|ERBB3_ENST00000415288.2_Missense_Mutation_p.E922D	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	981					cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			TATAGAGAGAGAGTGGGCCTG	0.502000													6	29					0	0	1	0	0
ZWILCH	55055	broad.mit.edu	37	15	66829597	66829597	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr15:66829597C>T	ENST00000307897.5	+	16	1950	c.1570C>T	c.(1570-1572)Caa>Taa	p.Q524*	ZWILCH_ENST00000446801.2_Nonsense_Mutation_p.Q410*|ZWILCH_ENST00000535141.2_Nonsense_Mutation_p.Q410*|ZWILCH_ENST00000565627.1_Nonsense_Mutation_p.Q410*	NM_017975.3	NP_060445.3	Q9H900	ZWILC_HUMAN	zwilch kinetochore protein	524					cell division|mitotic cell cycle checkpoint|mitotic prometaphase	condensed chromosome kinetochore|cytosol	protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(1)|lung(6)|ovary(1)	18						GAACTTATATCAAAGGTAAGC	0.423000													14	34					0	0	1	0	0
NOA1	84273	broad.mit.edu	37	4	57839436	57839436	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr4:57839436C>G	ENST00000264230.4	-	3	2630	c.1393G>C	c.(1393-1395)Gac>Cac	p.D465H		NM_032313.2	NP_115689.1	Q8NC60	CD014_HUMAN	nitric oxide associated 1	465							GTP binding										TTTTCCATGTCAAAGGCAAGT	0.403000													7	110					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100676453	100676453	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr7:100676453G>C	ENST00000306151.4	+	3	1820	c.1756G>C	c.(1756-1758)Gag>Cag	p.E586Q		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	586	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GGTCAGTTCTGAGGCTAGCAC	0.478000													47	194					0	0	1	0	0
ANKIB1	54467	broad.mit.edu	37	7	92019317	92019317	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr7:92019317G>A	ENST00000265742.3	+	15	2315	c.1939G>A	c.(1939-1941)Gaa>Aaa	p.E647K		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	647							protein binding|zinc ion binding			cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CACTTTCATTGAAGATGCAGT	0.333000													5	73					0	0	1	0	0
SRSF4	6429	broad.mit.edu	37	1	29474983	29474983	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr1:29474983C>G	ENST00000373795.4	-	6	1658	c.1424G>C	c.(1423-1425)aGa>aCa	p.R475T	SRSF4_ENST00000546138.1_3'UTR	NM_005626.4	NP_005617.2	Q08170	SRSF4_HUMAN	serine/arginine-rich splicing factor 4	475	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1)	27						AGACCTGGATCTAGACTTGGA	0.502000													3	50					0	0	1	0	0
C1orf87	127795	broad.mit.edu	37	1	60456431	60456431	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr1:60456431G>C	ENST00000371201.3	-	12	1662	c.1555C>G	c.(1555-1557)Cag>Gag	p.Q519E	C1orf87_ENST00000450089.2_Missense_Mutation_p.Q290E|C1orf87_ENST00000486478.1_5'UTR|C1orf87_ENST00000395552.1_Missense_Mutation_p.Q153E	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87	519							calcium ion binding			breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						TCGATTTTCTGAGGGCTCAGG	0.493000													55	199					0	0	1	0	0
WEE2	494551	broad.mit.edu	37	7	141414074	141414074	+	Silent	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr7:141414074G>A	ENST00000397541.2	+	2	814	c.408G>A	c.(406-408)ttG>ttA	p.L136L	WEE2-AS1_ENST00000471512.1_RNA|WEE2-AS1_ENST00000459753.1_RNA|WEE2-AS1_ENST00000465110.1_RNA|WEE2-AS1_ENST00000488785.1_RNA|WEE2-AS1_ENST00000495800.1_RNA|WEE2-AS1_ENST00000478332.1_RNA|WEE2-AS1_ENST00000462383.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	136					egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					CTAAGCATTTGAAGCTCACAC	0.448000													23	86					0	0	1	0	0
TAX1BP1	8887	broad.mit.edu	37	7	27868398	27868398	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr7:27868398G>C	ENST00000396319.2	+	17	2408	c.2320G>C	c.(2320-2322)Gaa>Caa	p.E774Q	TAX1BP1_ENST00000433216.2_Missense_Mutation_p.E575Q|TAX1BP1_ENST00000265393.6_Missense_Mutation_p.E732Q|TAX1BP1_ENST00000409980.1_Missense_Mutation_p.E798Q|TAX1BP1_ENST00000543117.1_Missense_Mutation_p.E732Q	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I) binding protein 1	774					anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production	cytosol	identical protein binding|kinase binding|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			GCAGGTGTTTGAAAGGCATGT	0.368000													16	76					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151880090	151880090	+	Nonsense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr7:151880090G>C	ENST00000355193.2	-	35	5452	c.5234C>G	c.(5233-5235)tCa>tGa	p.S1745*	KMT2C_ENST00000262189.6_Nonsense_Mutation_p.S1745*					lysine (K)-specific methyltransferase 2C									p.S1745*(2)									TTCATGTTCTGATTCTCTTTG	0.358000													31	103					0	0	1	0	0
CEP250	11190	broad.mit.edu	37	20	34092461	34092461	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr20:34092461G>C	ENST00000397527.1	+	30	6984	c.6264G>C	c.(6262-6264)gaG>gaC	p.E2088D	CEP250_ENST00000342580.4_Missense_Mutation_p.E2032D	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	2088	Gln/Glu-rich.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			AAGAGGAGGAGATAAGGGGCC	0.532000													10	25					0	0	1	0	0
PSMA6	5687	broad.mit.edu	37	14	35786501	35786501	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr14:35786501G>A	ENST00000261479.4	+	7	850	c.730G>A	c.(730-732)Gag>Aag	p.E244K	PSMA6_ENST00000540871.1_Missense_Mutation_p.E225K|PSMA6_ENST00000556506.1_3'UTR|KIAA0391_ENST00000557565.1_3'UTR|PSMA6_ENST00000553809.1_Missense_Mutation_p.E250K|PSMA6_ENST00000555764.1_Missense_Mutation_p.E165K	NM_002791.1	NP_002782.1	P60900	PSA6_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 6	244					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|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of NF-kappaB transcription factor activity|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	mitochondrion|nuclear matrix|polysome|proteasome core complex, alpha-subunit complex|sarcomere	NF-kappaB binding|purine ribonucleoside triphosphate binding|RNA binding|threonine-type endopeptidase activity	p.E244Q(1)		kidney(2)|large_intestine(1)|lung(5)|prostate(1)|urinary_tract(1)	10	Breast(36;0.0519)|Hepatocellular(127;0.158)		Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973)	GBM - Glioblastoma multiforme(112;0.0234)		TGCTCTAGCAGAGAGAGACTA	0.393000													33	26					0	0	1	0	0
UBAP2	55833	broad.mit.edu	37	9	33973226	33973226	+	Missense_Mutation	SNP	C	C	T	rs142268445		TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr9:33973226C>T	ENST00000379238.1	-	7	647	c.530G>A	c.(529-531)cGt>cAt	p.R177H	UBAP2_ENST00000539807.1_Intron|UBAP2_ENST00000360802.1_Missense_Mutation_p.R177H|UBAP2_ENST00000379239.4_Intron|UBAP2_ENST00000418786.2_Intron|UBAP2_ENST00000449054.1_Missense_Mutation_p.R177H			Q5T6F2	UBAP2_HUMAN	ubiquitin associated protein 2	177										endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		CCCTCTGCCACGTCCAAATCC	0.373000													18	81					0	0	1	0	0
PPFIA2	8499	broad.mit.edu	37	12	81657121	81657121	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr12:81657121G>A	ENST00000550584.2	-	30	3899	c.3604C>T	c.(3604-3606)Cct>Tct	p.P1202S	PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000552948.1_Missense_Mutation_p.P1181S|PPFIA2_ENST00000443686.3_Missense_Mutation_p.P1097S|PPFIA2_ENST00000549396.1_Missense_Mutation_p.P1202S|PPFIA2_ENST00000541570.2_Missense_Mutation_p.P738S|PPFIA2_ENST00000550359.2_Missense_Mutation_p.P1049S|PPFIA2_ENST00000549325.1_Missense_Mutation_p.P1187S|PPFIA2_ENST00000548586.1_Missense_Mutation_p.P1196S|PPFIA2_ENST00000541017.1_Missense_Mutation_p.P388S|PPFIA2_ENST00000407050.4_Missense_Mutation_p.P1101S|PPFIA2_ENST00000333447.7_Missense_Mutation_p.P1190S	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	1101										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TCACGAGGAGGAAACTGCCTT	0.438000													8	20					0	0	1	0	0
NUP188	23511	broad.mit.edu	37	9	131768007	131768007	+	Silent	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr9:131768007C>T	ENST00000372577.2	+	41	4842	c.4821C>T	c.(4819-4821)ttC>ttT	p.F1607F		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1607					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	p.F1607F(1)		breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						CCCCCTCCTTCGGGACCCTTC	0.572000													57	201					0	0	1	0	0
BEND2	139105	broad.mit.edu	37	X	18230687	18230687	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chrX:18230687C>G	ENST00000380033.4	-	4	622	c.490G>C	c.(490-492)Gag>Cag	p.E164Q	BEND2_ENST00000380030.3_Missense_Mutation_p.E164Q	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	164										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						ATATCTACCTCTGGAGTATAG	0.318000													16	12					0	0	1	0	0
CCDC102B	79839	broad.mit.edu	37	18	66721302	66721302	+	Silent	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr18:66721302G>A	ENST00000360242.5	+	8	1587	c.1470G>A	c.(1468-1470)caG>caA	p.Q490Q	CCDC102B_ENST00000319445.6_Silent_p.Q490Q	NM_024781.2	NP_079057	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	490										breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				GTAAGCTCCAGAGGTCTCTGG	0.373000													9	43					0	0	1	0	0
ZC3HAV1	56829	broad.mit.edu	37	7	138764853	138764853	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr7:138764853C>A	ENST00000242351.5	-	4	1150	c.834G>T	c.(832-834)caG>caT	p.Q278H	ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.Q278H|ZC3HAV1_ENST00000471652.1_Missense_Mutation_p.Q278H	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	278					response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						TGTGGCTGATCTGATCTGGAC	0.577000													30	65					1.80694e-10	1.90585e-10	1	1	0
CBLB	868	broad.mit.edu	37	3	105377987	105377987	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr3:105377987C>G	ENST00000264122.4	-	19	3097	c.2776G>C	c.(2776-2778)Gag>Cag	p.E926Q	CBLB_ENST00000407712.1_Missense_Mutation_p.E141Q|CBLB_ENST00000394027.3_Missense_Mutation_p.E904Q	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	926	Interaction with SH3KBP1.				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						AATGCCGCCTCAGGCCCATGG	0.493000			Mis S		AML								15	90					0	0	1	0	0
ACAA2	10449	broad.mit.edu	37	18	47311614	47311614	+	Silent	SNP	C	C	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr18:47311614C>A	ENST00000285093.10	-	9	1537	c.1062G>T	c.(1060-1062)ctG>ctT	p.L354L	ACAA2_ENST00000587994.1_Silent_p.L351L|ACAA2_ENST00000589432.1_Silent_p.L299L	NM_006111.2	NP_006102.2	P42765	THIM_HUMAN	acetyl-CoA acyltransferase 2	354					anti-apoptosis|cholesterol biosynthetic process		acetyl-CoA C-acyltransferase activity|protein binding			large_intestine(2)|lung(7)|ovary(1)	10						CAGATCCTCCCAGTGGGTGAC	0.418000													9	32					2.80697e-09	2.9544e-09	1	1	0
PSPC1	55269	broad.mit.edu	37	13	20346427	20346427	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr13:20346427C>T	ENST00000338910.4	-	2	788	c.629G>A	c.(628-630)cGa>cAa	p.R210Q		NM_001042414.2	NP_001035879.1	Q8WXF1	PSPC1_HUMAN	paraspeckle component 1	210	RRM 2.|Sufficient for paraspeckles localization.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleolus	nucleotide binding|protein binding|RNA binding	p.R210Q(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)		CAGAGCCTTTCGTGCAGGAGG	0.438000													13	68					0	0	1	0	0
ARHGAP1	392	broad.mit.edu	37	11	46703683	46703683	+	Silent	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr11:46703683G>A	ENST00000311956.4	-	5	464	c.367C>T	c.(367-369)Ctg>Ttg	p.L123L		NM_004308.3	NP_004299.1	Q07960	RHG01_HUMAN	Rho GTPase activating protein 1	123	CRAL-TRIO.				Rho protein signal transduction	cytosol|intracellular membrane-bounded organelle	SH3 domain binding|SH3/SH2 adaptor activity			endometrium(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11		Lung NSC(402;1.76e-12)|all_lung(304;1.3e-11)		GBM - Glioblastoma multiforme(35;5.17e-06)|BRCA - Breast invasive adenocarcinoma(625;0.00112)|Lung(87;0.153)		TGCAGATACAGAAGTGTGTAG	0.627000													18	73					0	0	1	0	0
BRINP3	339479	broad.mit.edu	37	1	190067904	190067904	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr1:190067904G>C	ENST00000367462.3	-	8	1776	c.1545C>G	c.(1543-1545)atC>atG	p.I515M	BRINP3_ENST00000534846.1_Missense_Mutation_p.I413M	NM_199051.1	NP_950252.1			bone morphogenetic protein/retinoic acid inducible neural-specific 3	515																	TGTCATTGCTGATAAAAATGG	0.453000													4	98					0	0	1	0	0
ARMC9	80210	broad.mit.edu	37	2	232100046	232100046	+	Silent	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr2:232100046C>G	ENST00000349938.4	+	8	926	c.732C>G	c.(730-732)gtC>gtG	p.V244V	ARMC9_ENST00000483477.1_3'UTR	NM_001271466.1|NM_025139.4	NP_001258395.1|NP_079415	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	244							binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		TCATTGGAGTCACAGCAGAGC	0.493000													7	11					0	0	1	0	0
TRIM52	84851	broad.mit.edu	37	5	180687503	180687503	+	Silent	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr5:180687503G>C	ENST00000327767.4	-	1	616	c.312C>G	c.(310-312)ctC>ctG	p.L104L	CTC-338M12.4_ENST00000511331.1_RNA|TRIM52_ENST00000514805.1_5'UTR	NM_032765.2	NP_116154.1	Q96A61	TRI52_HUMAN	tripartite motif containing 52	104	Glu-rich.					intracellular	zinc ion binding			endometrium(1)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	8	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.0106)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0588)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.232)		CACCGAGCCAGAGTTCATCGT	0.507000													4	91					0	0	1	0	0
MTURN	222166	broad.mit.edu	37	7	30185805	30185805	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr7:30185805G>T	ENST00000324453.8	+	2	502	c.175G>T	c.(175-177)Gag>Tag	p.E59*	C7orf41_ENST00000409688.1_Intron|C7orf41_ENST00000455738.1_Nonsense_Mutation_p.E26*|C7orf41_ENST00000324489.5_Nonsense_Mutation_p.E26*|C7orf41_ENST00000415604.1_Nonsense_Mutation_p.E59*	NM_152793.2	NP_690006.2	Q8N3F0	CG041_HUMAN		59										NS(1)|large_intestine(2)	3						CGTGTGGAGTGAGAGCGAGGA	0.522000													16	39					3.32936e-07	3.46779e-07	1	1	0
CASP3	836	broad.mit.edu	37	4	185550500	185550500	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr4:185550500C>A	ENST00000308394.4	-	8	1022	c.760G>T	c.(760-762)Gct>Tct	p.A254S	CASP3_ENST00000517513.1_3'UTR|CASP3_ENST00000393585.2_3'UTR|CASP3_ENST00000523916.1_Missense_Mutation_p.A254S	NM_004346.3	NP_004337.2	P42574	CASP3_HUMAN	caspase 3, apoptosis-related cysteine peptidase	254					activation of caspase activity by cytochrome c|DNA fragmentation involved in apoptotic nuclear change|negative regulation of apoptosis|nerve growth factor receptor signaling pathway|nuclear fragmentation involved in apoptotic nuclear change|proteolysis|response to tumor necrosis factor	cytosol|mitochondrion|nucleoplasm|plasma membrane	cysteine-type endopeptidase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	12		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.057)|all_hematologic(60;0.0592)		all cancers(43;2.05e-27)|Epithelial(43;4.27e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.04e-11)|Colorectal(24;2e-05)|STAD - Stomach adenocarcinoma(60;2.35e-05)|GBM - Glioblastoma multiforme(59;4.94e-05)|COAD - Colon adenocarcinoma(29;0.00017)|BRCA - Breast invasive adenocarcinoma(30;0.000218)|LUSC - Lung squamous cell carcinoma(40;0.00904)|READ - Rectum adenocarcinoma(43;0.161)	Melatonin(DB01065)|Minocycline(DB01017)|Simvastatin(DB00641)	TGAAAAGTAGCGTCAAAGGAA	0.383000													4	95					0.00909568	0.00917812	1	1	0
ZSWIM2	151112	broad.mit.edu	37	2	187692909	187692909	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr2:187692909C>G	ENST00000295131.2	-	9	1743	c.1704G>C	c.(1702-1704)aaG>aaC	p.K568N		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	568					apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			AAGTTGATCTCTTGTTGTCCT	0.368000													10	30					0	0	1	0	0
CENPO	79172	broad.mit.edu	37	2	25038510	25038510	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr2:25038510C>G	ENST00000380834.2	+	5	904	c.479C>G	c.(478-480)cCc>cGc	p.P160R	CENPO_ENST00000260662.1_Missense_Mutation_p.P160R|CENPO_ENST00000473706.1_Missense_Mutation_p.P154R			Q9BU64	CENPO_HUMAN	centromere protein O	160					cell division|CenH3-containing nucleosome assembly at centromere|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			breast(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					GTCTTCATTCCCCTGGAAGAG	0.458000													16	68					0	0	1	0	0
LRRC15	131578	broad.mit.edu	37	3	194080221	194080221	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr3:194080221G>C	ENST00000347624.3	-	2	1637	c.1552C>G	c.(1552-1554)Ctg>Gtg	p.L518V	LRRC15_ENST00000428839.1_Missense_Mutation_p.L524V|LRRC15_ENST00000439944.2_Missense_Mutation_p.L524V	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	518						integral to membrane				biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		ATGGTAGTCAGATCAGTGTAG	0.562000													7	46					0	0	1	0	0
FANCI	55215	broad.mit.edu	37	15	89807248	89807248	+	Silent	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr15:89807248C>T	ENST00000310775.7	+	8	746	c.660C>T	c.(658-660)ctC>ctT	p.L220L	FANCI_ENST00000300027.8_Silent_p.L220L|FANCI_ENST00000567996.1_Silent_p.L220L|FANCI_ENST00000451393.2_Silent_p.L41L	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	220					cell cycle|DNA repair	nucleoplasm	protein binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					TTCTGGTTCTCTCCTCCAAGG	0.403000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				6	58					0	0	1	0	0
ERBB3	2065	broad.mit.edu	37	12	56494956	56494956	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr12:56494956G>A	ENST00000267101.3	+	27	3753	c.3313G>A	c.(3313-3315)Gag>Aag	p.E1105K	ERBB3_ENST00000450146.2_Missense_Mutation_p.E462K|ERBB3_ENST00000549832.1_Missense_Mutation_p.E225K|ERBB3_ENST00000553131.1_Missense_Mutation_p.E346K|ERBB3_ENST00000415288.2_Missense_Mutation_p.E1046K	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	1105					cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			AACAGGCTCTGAGGCTGAGCT	0.617000													3	16					0	0	1	0	0
CLUL1	27098	broad.mit.edu	37	18	641365	641365	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr18:641365G>A	ENST00000581619.1	+	7	1955	c.1108G>A	c.(1108-1110)Gag>Aag	p.E370K	CLUL1_ENST00000338387.7_Missense_Mutation_p.E345K|C18orf56_ENST00000585033.1_3'UTR|CLUL1_ENST00000579494.1_Missense_Mutation_p.E345K|CLUL1_ENST00000540035.1_Missense_Mutation_p.E397K|CLUL1_ENST00000400606.2_Missense_Mutation_p.E345K			Q15846	CLUL1_HUMAN	clusterin-like 1 (retinal)	345					cell death	extracellular region				NS(1)|breast(1)|endometrium(5)|large_intestine(5)|liver(2)|lung(7)|ovary(2)|skin(1)	24						AGAATTAGACGAGGCGATCAG	0.488000													11	40					0	0	1	0	0
EIF4B	1975	broad.mit.edu	37	12	53413718	53413718	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr12:53413718G>A	ENST00000262056.9	+	4	711	c.385G>A	c.(385-387)Gaa>Aaa	p.E129K	EIF4B_ENST00000551527.1_3'UTR|EIF4B_ENST00000420463.3_Missense_Mutation_p.E129K|EIF4B_ENST00000416762.3_Intron|RP11-983P16.4_ENST00000552905.1_RNA	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B	129	RRM.				insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	nucleotide binding|translation initiation factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						TTTACCACGTGAACCCAGCAA	0.423000													5	31					0	0	1	0	0
UPP2	151531	broad.mit.edu	37	2	158978037	158978037	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr2:158978037G>A	ENST00000605860.1	+	8	788	c.742G>A	c.(742-744)Gaa>Aaa	p.E248K	UPP2_ENST00000460456.1_Intron|UPP2_ENST00000005756.4_Missense_Mutation_p.E191K|UPP2_ENST00000409859.4_Missense_Mutation_p.E248K			O95045	UPP2_HUMAN	uridine phosphorylase 2	191					nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|uridine metabolic process	cytosol|type III intermediate filament	uridine phosphorylase activity	p.E191*(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31						ACTGGACAAAGAACTGTCTGA	0.413000													24	65					0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61510987	61510987	+	Silent	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr20:61510987G>A	ENST00000266070.4	-	16	6646	c.6321C>T	c.(6319-6321)ggC>ggT	p.G2107G	DIDO1_ENST00000395343.1_Silent_p.G2107G	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	2107					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CGGACGCCCGGCCCTGGGCGT	0.677000													39	117					0	0	1	0	0
BTRC	8945	broad.mit.edu	37	10	103310522	103310522	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr10:103310522G>A	ENST00000370187.3	+	14	1841	c.1723G>A	c.(1723-1725)Gac>Aac	p.D575N	BTRC_ENST00000393441.4_Missense_Mutation_p.D534N|BTRC_ENST00000493877.1_3'UTR|BTRC_ENST00000408038.2_Missense_Mutation_p.D539N	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	575					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex				endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		TTCACATGATGACACAATCCT	0.438000													10	74					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152327684	152327684	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr1:152327684G>A	ENST00000388718.5	-	3	2650	c.2578C>T	c.(2578-2580)Caa>Taa	p.Q860*	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	860	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACCCATGTTGACCATAGCCA	0.498000													71	337					0	0	1	0	0
CEP128	145508	broad.mit.edu	37	14	81046741	81046741	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr14:81046741C>G	ENST00000555265.1	-	20	3208	c.2833G>C	c.(2833-2835)Gat>Cat	p.D945H	CEP128_ENST00000281129.3_Missense_Mutation_p.D945H			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	945						centriole|spindle pole				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						ATTTCTTCATCTTTTCTTTGG	0.323000													28	48					0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29663696	29663696	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr17:29663696C>G	ENST00000358273.4	+	42	6574	c.6191C>G	c.(6190-6192)tCt>tGt	p.S2064C	NF1_ENST00000356175.3_Missense_Mutation_p.S2043C	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2064					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ACATGCTTATCTCCAACTCCT	0.348000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			4	23					0	0	1	0	0
TUBB8	347688	broad.mit.edu	37	10	93339	93339	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr10:93339G>C	ENST00000447903.2	-	4	1092	c.777C>G	c.(775-777)ttC>ttG	p.F259L	TUBB8_ENST00000309812.4_Missense_Mutation_p.F331L			Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	331					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		CTTGAATGTTGAACATTTGTT	0.537000													4	96					0	0	1	0	0
ZIM3	114026	broad.mit.edu	37	19	57646468	57646468	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr19:57646468G>A	ENST00000269834.1	-	5	1622	c.1237C>T	c.(1237-1239)Cat>Tat	p.H413Y		NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	413					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TCTCCGCTATGAGTTTTCTGA	0.378000													27	112					0	0	1	0	0
APC	324	broad.mit.edu	37	5	112176962	112176962	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr5:112176962G>C	ENST00000457016.1	+	16	6051	c.5671G>C	c.(5671-5673)Gag>Cag	p.E1891Q	APC_ENST00000257430.4_Missense_Mutation_p.E1891Q|APC_ENST00000508376.2_Missense_Mutation_p.E1891Q|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	1891	Highly charged.|Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TAAGGAATCAGAGGCTAAAGT	0.388000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			3	43					0	0	1	0	0
KMT2A	4297	broad.mit.edu	37	11	118376326	118376326	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr11:118376326C>G	ENST00000534358.1	+	27	9742	c.9719C>G	c.(9718-9720)tCt>tGt	p.S3240C	KMT2A_ENST00000354520.4_Missense_Mutation_p.S3199C|KMT2A_ENST00000389506.5_Missense_Mutation_p.S3237C	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		CTTGCTCCCTCTAGTACCCCT	0.443000													16	42					0	0	1	0	0
SMG8	55181	broad.mit.edu	37	17	57290755	57290755	+	Silent	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr17:57290755G>A	ENST00000543872.2	+	4	2835	c.2571G>A	c.(2569-2571)cgG>cgA	p.R857R	SMG8_ENST00000300917.5_Silent_p.R857R|CTD-2510F5.6_ENST00000577660.1_Intron			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	857					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding			NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						CTCGAGGTCGGAGATTCATGT	0.453000													41	64					0	0	1	0	0
ATP6V0C	527	broad.mit.edu	37	16	2569581	2569581	+	Silent	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr16:2569581G>C	ENST00000330398.4	+	3	537	c.303G>C	c.(301-303)ctG>ctC	p.L101L	ATP6C_ENST00000569317.1_Intron|ATP6V0C_ENST00000568562.1_3'UTR|ATP6V0C_ENST00000565223.1_Silent_p.L58L|ATP6V0C_ENST00000564973.1_Silent_p.L58L|RP11-20I23.1_ENST00000564543.1_3'UTR	NM_001198569.1|NM_001694.3	NP_001185498.1|NP_001685.1	P27449	VATL_HUMAN	ATPase, H+ transporting, lysosomal 16kDa, V0 subunit c	101					ATP hydrolysis coupled proton transport|ATP synthesis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|interspecies interaction between organisms|transferrin transport	endosome membrane|integral to membrane|proton-transporting ATP synthase complex, coupling factor F(o)|proton-transporting V-type ATPase, V0 domain|vacuolar membrane	hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism|ubiquitin protein ligase binding			endometrium(1)|lung(1)|ovary(1)	3		Ovarian(90;0.17)				GCGTGGGCCTGAGCGGCCTGG	0.687000													4	16					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48318490	48318490	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr7:48318490C>G	ENST00000435803.1	+	18	7723	c.7699C>G	c.(7699-7701)Caa>Gaa	p.Q2567E		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2567					transport	integral to membrane	ATP binding|ATPase activity	p.Q2512*(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ACAAAGTGTTCAAAATCTTGT	0.328000													3	52					0	0	1	0	0
HIVEP1	3096	broad.mit.edu	37	6	12125927	12125927	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr6:12125927G>A	ENST00000379388.2	+	4	6231	c.5899G>A	c.(5899-5901)Gat>Aat	p.D1967N		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1967					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				AGCCTATACTGATTGGACAGT	0.423000													17	51					0	0	1	0	0
RANBP17	64901	broad.mit.edu	37	5	170380643	170380643	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr5:170380643G>C	ENST00000523189.1	+	13	1675	c.1511G>C	c.(1510-1512)gGa>gCa	p.G504A		NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	504					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity	p.G504L(1)|p.G504V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			ACAGTTGTAGGAGGAAGATTA	0.353000			T	TRD@	ALL								3	39					0	0	1	0	0
PIAS2	9063	broad.mit.edu	37	18	44408028	44408028	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr18:44408028C>G	ENST00000585916.1	-	11	1401	c.1402G>C	c.(1402-1404)Gat>Cat	p.D468H	PIAS2_ENST00000545673.1_Missense_Mutation_p.D178H|PIAS2_ENST00000324794.7_Missense_Mutation_p.D468H	NM_004671.3	NP_004662.2	O75928	PIAS2_HUMAN	protein inhibitor of activated STAT, 2	468	SUMO1-binding.				androgen receptor signaling pathway|negative regulation of androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|PML body	androgen receptor binding|DNA binding|protein binding|SUMO ligase activity|transcription coactivator activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	22						TCAATAACATCTACTTTCTTC	0.403000													14	28					0	0	1	0	0
ZNF33B	7582	broad.mit.edu	37	10	43089740	43089740	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr10:43089740C>G	ENST00000359467.3	-	5	772	c.658G>C	c.(658-660)Gaa>Caa	p.E220Q	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	220						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						ATACTGTATTCAAAATTGTGG	0.363000													20	77					0	0	1	0	0
MLXIPL	51085	broad.mit.edu	37	7	73008651	73008651	+	Nonsense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr7:73008651G>C	ENST00000313375.3	-	16	2440	c.2393C>G	c.(2392-2394)tCa>tGa	p.S798*	MLXIPL_ENST00000414749.2_Nonsense_Mutation_p.S796*|MLXIPL_ENST00000395189.1_Nonsense_Mutation_p.S705*|MLXIPL_ENST00000434326.1_Nonsense_Mutation_p.S704*|MLXIPL_ENST00000354613.1_Nonsense_Mutation_p.S777*|MLXIPL_ENST00000429400.2_Nonsense_Mutation_p.S779*	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	WBS14_HUMAN	MLX interacting protein-like	798					anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				CCAGGCCAGTGAGGTCTGGCG	0.637000													8	26					0	0	1	0	0
SH3GLB2	56904	broad.mit.edu	37	9	131783434	131783434	+	Silent	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr9:131783434G>A	ENST00000372564.3	-	3	415	c.270C>T	c.(268-270)aaC>aaT	p.N90N	SH3GLB2_ENST00000416629.1_Silent_p.N90N|SH3GLB2_ENST00000372559.1_Silent_p.N90N|SH3GLB2_ENST00000372554.4_Silent_p.N90N|SH3GLB2_ENST00000417224.1_Silent_p.N90N	NM_020145.2	NP_064530.1	Q9NR46	SHLB2_HUMAN	SH3-domain GRB2-like endophilin B2	90	BAR.				filopodium assembly|signal transduction	cytoplasm|nucleus	cytoskeletal adaptor activity|SH3 domain binding			NS(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)	12						GCAGCTCCCCGTTGGTGACCC	0.637000													4	11					0	0	1	0	0
TMCC1	23023	broad.mit.edu	37	3	129389916	129389916	+	Translation_Start_Site	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr3:129389916G>A	ENST00000432054.2	-	0	747				TMCC1_ENST00000329333.5_Silent_p.D77D|TMCC1_ENST00000393238.3_Silent_p.D256D|TMCC1_ENST00000426664.2_Silent_p.D142D			O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1							integral to membrane			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						CAACGTTGTCGTCCCGGGCTG	0.512000													40	201					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7583509	7583509	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr6:7583509C>T	ENST00000379802.3	+	24	6355	c.6014C>T	c.(6013-6015)gCt>gTt	p.A2005V	DSP_ENST00000418664.2_Missense_Mutation_p.A1406V	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2005	Globular 2.				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)		GAAGAAGTTGCTTCTGAAATC	0.458000													6	21					0	0	1	0	0
TRPM7	54822	broad.mit.edu	37	15	50881790	50881790	+	Splice_Site	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr15:50881790G>C	ENST00000313478.7	-	27	4669	c.4388C>G	c.(4387-4389)tCc>tGc	p.S1463C	TRPM7_ENST00000560955.1_Splice_Site_p.S1463C	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	1463					cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		TTTACTTACGGATAGTATTTT	0.264000													9	55					0	0	1	0	0
MARC2	54996	broad.mit.edu	37	1	220921997	220921997	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr1:220921997C>T	ENST00000366913.3	+	1	322	c.124C>T	c.(124-126)Cgc>Tgc	p.R42C	MARC2_ENST00000359316.2_Missense_Mutation_p.R42C	NM_017898.3	NP_060368.2	Q969Z3	MOSC2_HUMAN	mitochondrial amidoxime reducing component 2	42						mitochondrial outer membrane|peroxisome	molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding										CGCCTGGCGCCGCGCATGGCC	0.756000													9	2					0	0	1	0	0
SIX4	51804	broad.mit.edu	37	14	61190185	61190185	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr14:61190185C>G	ENST00000216513.4	-	1	667	c.608G>C	c.(607-609)gGa>gCa	p.G203A		NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN	SIX homeobox 4	203						nucleus				breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		GTCTACGGCTCCCAGCGGCCG	0.662000													5	10					0	0	1	0	0
NUP98	4928	broad.mit.edu	37	11	3727727	3727727	+	Missense_Mutation	SNP	G	G	A	rs11607340		TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr11:3727727G>A	ENST00000324932.7	-	21	3293	c.2873C>T	c.(2872-2874)tCt>tTt	p.S958F	NUP98_ENST00000359171.4_Missense_Mutation_p.S958F|NUP98_ENST00000355260.3_Missense_Mutation_p.S958F	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	975					carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		TGTTGAGGCAGACACAGGTTC	0.433000			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML								27	74					0	0	1	0	0
CEP192	55125	broad.mit.edu	37	18	13049486	13049486	+	Nonsense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr18:13049486C>G	ENST00000506447.1	+	16	2776	c.2696C>G	c.(2695-2697)tCa>tGa	p.S899*	CEP192_ENST00000430049.2_Nonsense_Mutation_p.S424*|CEP192_ENST00000325971.8_Nonsense_Mutation_p.S303*	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	494										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						AAAGCTACCTCAATTTCCACT	0.363000													12	41					0	0	1	0	0
FERMT3	83706	broad.mit.edu	37	11	63988079	63988079	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr11:63988079G>A	ENST00000279227.5	+	12	1590	c.1495G>A	c.(1495-1497)Gag>Aag	p.E499K	FERMT3_ENST00000345728.5_Missense_Mutation_p.E495K	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3	499	FERM.				integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						TGCCTCTGCCGAGGGCCTCAA	0.657000													3	14					0	0	1	0	0
TUBG1	7283	broad.mit.edu	37	17	40766868	40766868	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr17:40766868G>A	ENST00000251413.3	+	11	1227	c.1165G>A	c.(1165-1167)Gag>Aag	p.E389K		NM_001070.4	NP_001061.2	P23258	TBG1_HUMAN	tubulin, gamma 1	389					G2/M transition of mitotic cell cycle|meiotic spindle organization|protein polymerization	condensed nuclear chromosome|cytosol|gamma-tubulin complex|polar microtubule	GTP binding|GTPase activity|protein binding|structural constituent of cytoskeleton			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.129)		CAAGCTCTTCGAGAGAACCTG	0.527000													17	69					0	0	1	0	0
NETO1	81832	broad.mit.edu	37	18	70532046	70532046	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr18:70532046C>A	ENST00000327305.6	-	3	874	c.217G>T	c.(217-219)Gaa>Taa	p.E73*	NETO1_ENST00000580049.1_5'UTR|NETO1_ENST00000583169.1_Nonsense_Mutation_p.E73*|NETO1_ENST00000299430.2_Nonsense_Mutation_p.E72*|NETO1_ENST00000397929.1_Nonsense_Mutation_p.E72*	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	73	CUB 1.				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		CCCTTACCTTCTATGATGTAG	0.458000													10	35					0.000978159	0.000994032	1	1	0
MEGF11	84465	broad.mit.edu	37	15	66206297	66206297	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr15:66206297C>T	ENST00000409699.2	-	20	2660	c.2488G>A	c.(2488-2490)Gag>Aag	p.E830K	MEGF11_ENST00000395614.1_Missense_Mutation_p.E3K|MEGF11_ENST00000360698.4_3'UTR|MEGF11_ENST00000395625.2_Missense_Mutation_p.E755K|MEGF11_ENST00000478721.1_5'UTR|MEGF11_ENST00000422354.1_Missense_Mutation_p.E830K|MEGF11_ENST00000288745.3_Missense_Mutation_p.E755K			A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11	830						basolateral plasma membrane|integral to membrane				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						TTCAGCTCCTCCATCATGAGG	0.612000													5	15					0	0	1	0	0
GABRA6	2559	broad.mit.edu	37	5	161119155	161119155	+	Silent	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr5:161119155C>G	ENST00000523217.1	+	8	1247	c.1005C>G	c.(1003-1005)ccC>ccG	p.P335P	GABRA6_ENST00000274545.5_Silent_p.P345P	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	345					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CAGCCCCACCCACAGTGACAA	0.433000										TCGA Ovarian(5;0.080)			9	67					0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22941482	22941482	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr19:22941482G>A	ENST00000397104.3	-	5	955	c.956C>T	c.(955-957)tCa>tTa	p.S319L	ZNF99_ENST00000596209.1_Missense_Mutation_p.S410L					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				AGTAAGTTTTGAGGACCACTT	0.373000													16	39					0	0	1	0	0
KPNB1	3837	broad.mit.edu	37	17	45748185	45748185	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr17:45748185G>C	ENST00000290158.4	+	12	1941	c.1534G>C	c.(1534-1536)Gag>Cag	p.E512Q	KPNB1_ENST00000537679.1_Missense_Mutation_p.E296Q|KPNB1_ENST00000540627.1_Missense_Mutation_p.E367Q|KPNB1_ENST00000535458.2_Missense_Mutation_p.E367Q	NM_001276453.1|NM_002265.4	NP_001263382.1|NP_002256.2	Q14974	IMB1_HUMAN	karyopherin (importin) beta 1	512					DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein domain specific binding|zinc ion binding			breast(1)|ovary(1)|pancreas(1)|skin(1)	4						GAAGCTCCTAGAGACTACAGA	0.408000													3	55					0	0	1	0	0
TULP4	56995	broad.mit.edu	37	6	158922810	158922810	+	Silent	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr6:158922810G>A	ENST00000367097.3	+	13	3472	c.2115G>A	c.(2113-2115)caG>caA	p.Q705Q	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	705					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		CCCCCACGCAGAGCATAGGGC	0.567000													13	46					0	0	1	0	0
CRAT	1384	broad.mit.edu	37	9	131864267	131864267	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr9:131864267C>G	ENST00000318080.2	-	6	994	c.700G>C	c.(700-702)Gag>Cag	p.E234Q	CRAT_ENST00000464290.1_5'UTR	NM_000755.3|NM_001257363.1	NP_000746|NP_001244292.1	P43155	CACP_HUMAN	carnitine O-acetyltransferase	234					energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport	endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix	carnitine O-acetyltransferase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	CAGATCTTCTCCAGCTGCACA	0.552000													9	21					0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100454857	100454857	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr8:100454857G>C	ENST00000395996.1	+	23	3550	c.3439G>C	c.(3439-3441)Gaa>Caa	p.E1147Q	VPS13B_ENST00000357162.2_Missense_Mutation_p.E1147Q|VPS13B_ENST00000358544.2_Missense_Mutation_p.E1147Q			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1147					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			ACCCATCCTTGAAGAAGGTAT	0.348000													5	28					0	0	1	0	0
CHST8	64377	broad.mit.edu	37	19	34263621	34263621	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr19:34263621G>A	ENST00000262622.4	+	4	1686	c.928G>A	c.(928-930)Gag>Aag	p.E310K	CHST8_ENST00000434302.1_Missense_Mutation_p.E310K|CHST8_ENST00000438847.3_Missense_Mutation_p.E310K	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8						carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					GCGTTTTCCCGAGTTCGTCCA	0.657000													6	32					0	0	1	0	0
ZBTB7A	51341	broad.mit.edu	37	19	4048152	4048152	+	Silent	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr19:4048152G>A	ENST00000322357.4	-	3	1631	c.1353C>T	c.(1351-1353)taC>taT	p.Y451Y	ZBTB7A_ENST00000601588.1_Silent_p.Y451Y	NM_015898.2	NP_056982.1	O95365	ZBT7A_HUMAN	zinc finger and BTB domain containing 7A	451					cell differentiation|multicellular organismal development|transcription, DNA-dependent	nucleus	DNA binding|histone acetyltransferase binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)		TCTTCAGGTCGTAGTTGTGGG	0.647000													9	44					0	0	1	0	0
ERC1	23085	broad.mit.edu	37	12	1219412	1219412	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr12:1219412C>T	ENST00000397203.2	+	5	1622	c.1216C>T	c.(1216-1218)Cag>Tag	p.Q406*	ERC1_ENST00000546231.2_Nonsense_Mutation_p.Q406*|ERC1_ENST00000589028.1_Nonsense_Mutation_p.Q406*|ERC1_ENST00000360905.4_Nonsense_Mutation_p.Q406*|ERC1_ENST00000543086.3_Nonsense_Mutation_p.Q406*|ERC1_ENST00000355446.5_Nonsense_Mutation_p.Q406*|ERC1_ENST00000536573.2_3'UTR			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	406					I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			AGAGGAAATTCAGATGCTGAA	0.383000													4	29					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151845784	151845784	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr7:151845784C>T	ENST00000355193.2	-	53	13617	c.13399G>A	c.(13399-13401)Gat>Aat	p.D4467N	KMT2C_ENST00000262189.6_Missense_Mutation_p.D4410N					lysine (K)-specific methyltransferase 2C																		GTCAATCCATCACCTTCTTCA	0.458000													5	36					0	0	1	0	0
ERBB4	2066	broad.mit.edu	37	2	212543806	212543806	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr2:212543806G>C	ENST00000342788.4	-	13	1903	c.1593C>G	c.(1591-1593)atC>atG	p.I531M	ERBB4_ENST00000402597.1_Missense_Mutation_p.I531M|ERBB4_ENST00000436443.1_Missense_Mutation_p.I531M	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	531	Cys-rich.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		ACTCTATGCAGATCCTTCCTC	0.473000										TSP Lung(8;0.080)			5	12					0	0	1	0	0
PIGW	284098	broad.mit.edu	37	17	34893290	34893290	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr17:34893290G>T	ENST00000592983.1	+	2	920	c.340G>T	c.(340-342)Gaa>Taa	p.E114*	MYO19_ENST00000590081.1_Intron|PIGW_ENST00000328396.2_Nonsense_Mutation_p.E114*			Q7Z7B1	PIGW_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class W	114					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	O-acyltransferase activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AAAAATCCTTGAAAAATTCTT	0.423000													28	79					4.22769e-11	4.4827e-11	1	1	0
CCDC83	220047	broad.mit.edu	37	11	85593586	85593586	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr11:85593586C>T	ENST00000280245.4	+	4	723	c.211C>T	c.(211-213)Cac>Tac	p.H71Y	CCDC83_ENST00000529676.2_Intron|CCDC83_ENST00000342404.3_Missense_Mutation_p.H71Y|CCDC83_ENST00000376067.1_Missense_Mutation_p.H28Y	NM_173556.3	NP_775827.2	Q8IWF9	CCD83_HUMAN	coiled-coil domain containing 83	71										breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				ACAGATTTGGCACATACGGCA	0.388000													16	42					0	0	1	0	0
ISX	91464	broad.mit.edu	37	22	35463282	35463282	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr22:35463282G>C	ENST00000308700.6	+	1	1154	c.202G>C	c.(202-204)Gaa>Caa	p.E68Q	ISX_ENST00000404699.2_Missense_Mutation_p.E68Q|RP1-272J12.1_ENST00000448318.4_RNA	NM_001008494.1	NP_001008494.1	Q2M1V0	ISX_HUMAN	intestine-specific homeobox	68						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4)	26						CTCTGGGCTAGAAAAGCCTCC	0.572000													2	1					0	0	1	0	0
TMEM132A	54972	broad.mit.edu	37	11	60694735	60694735	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr11:60694735G>C	ENST00000005286.4	+	2	313	c.160G>C	c.(160-162)Gac>Cac	p.D54H	TMEM132A_ENST00000453848.2_Missense_Mutation_p.D54H	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN	transmembrane protein 132A	54						endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						GGAGCTCCTAGACGCCCCTGA	0.612000													14	45					0	0	1	0	0
ZNF404	342908	broad.mit.edu	37	19	44377300	44377300	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr19:44377300C>G	ENST00000587539.1	-	3	1065	c.1066G>C	c.(1066-1068)Gat>Cat	p.D356H	ZNF404_ENST00000324394.6_Missense_Mutation_p.D354H	NM_001033719.2	NP_001028891.2	Q494X3	ZN404_HUMAN	zinc finger protein 404	356					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1)	17		Prostate(69;0.0352)				TCCTTACAATCATAGAGTTTC	0.403000													9	27					0	0	1	0	0
KIAA1429	25962	broad.mit.edu	37	8	95504025	95504025	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr8:95504025G>A	ENST00000297591.5	-	22	4996	c.4921C>T	c.(4921-4923)Cag>Tag	p.Q1641*	KIAA1429_ENST00000437199.1_3'UTR	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1641					mRNA processing|RNA splicing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			TGTTTTCTCTGACGAAAAATA	0.458000													12	60					0	0	1	0	0
AKNAD1	254268	broad.mit.edu	37	1	109395216	109395216	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr1:109395216G>C	ENST00000370001.3	-	2	339	c.71C>G	c.(70-72)tCt>tGt	p.S24C	AKNAD1_ENST00000369995.3_Missense_Mutation_p.S24C|AKNAD1_ENST00000369994.1_Missense_Mutation_p.S24C|AKNAD1_ENST00000357393.4_Intron	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	24										breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						CTTAATCTGAGAGAGGTCCCC	0.423000													6	64					0	0	1	0	0
PARL	55486	broad.mit.edu	37	3	183585733	183585733	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr3:183585733G>A	ENST00000317096.4	-	2	301	c.241C>T	c.(241-243)Cct>Tct	p.P81S	PARL_ENST00000311101.5_Missense_Mutation_p.P81S|PARL_ENST00000435888.1_Missense_Mutation_p.P81S	NM_018622.5	NP_061092.3	Q9H300	PARL_HUMAN	presenilin associated, rhomboid-like	81					proteolysis	integral to membrane|mitochondrial inner membrane|nucleus	serine-type endopeptidase activity	p.P81T(1)		endometrium(2)|large_intestine(3)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	17	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.21e-41)|Epithelial(37;1.34e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TCCACAGGAGGAATCAAAGCA	0.423000													39	84					0	0	1	0	0
SRCAP	10847	broad.mit.edu	37	16	30735633	30735633	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr16:30735633C>T	ENST00000262518.4	+	25	5273	c.4888C>T	c.(4888-4890)Cca>Tca	p.P1630S	SRCAP_ENST00000344771.4_Missense_Mutation_p.P1472S|SRCAP_ENST00000395059.2_Missense_Mutation_p.P1568S	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1630	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GACTCCGGTTCCAGTTATGGC	0.557000													10	27					0	0	1	0	0
MYH11	4629	broad.mit.edu	37	16	15829309	15829309	+	Silent	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr16:15829309C>T	ENST00000452625.2	-	27	3528	c.3441G>A	c.(3439-3441)caG>caA	p.Q1147Q	MYH11_ENST00000396324.3_Silent_p.Q1147Q|MYH11_ENST00000576790.2_Silent_p.Q1140Q|MYH11_ENST00000300036.5_Silent_p.Q1140Q	NM_001040113.1	NP_001035202.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1140					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GGTCTCGCTTCTGCTTTTCAG	0.612000			T	CBFB	AML								11	70					0	0	1	0	0
KAT7	11143	broad.mit.edu	37	17	47874175	47874175	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr17:47874175G>C	ENST00000259021.4	+	3	507	c.227G>C	c.(226-228)aGa>aCa	p.R76T	KAT7_ENST00000510819.1_Intron|KAT7_ENST00000435742.2_5'UTR|KAT7_ENST00000454930.2_Intron|KAT7_ENST00000509773.1_Missense_Mutation_p.R76T|KAT7_ENST00000424009.2_Missense_Mutation_p.R76T|KAT7_ENST00000503935.2_5'UTR	NM_007067.4	NP_008998.1	O95251	MYST2_HUMAN	K(lysine) acetyltransferase 7	76					DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	histone acetyltransferase activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding										TCTACCAGAAGAGTGACCCGT	0.448000													23	78					0	0	1	0	0
FOXP2	93986	broad.mit.edu	37	7	114210919	114210919	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr7:114210919C>T	ENST00000408937.3	+	4	690	c.316C>T	c.(316-318)Cct>Tct	p.P106S	FOXP2_ENST00000393498.2_Intron|FOXP2_ENST00000393500.3_Intron|FOXP2_ENST00000393494.2_Intron|FOXP2_ENST00000350908.4_Intron|FOXP2_ENST00000360232.4_Intron|FOXP2_ENST00000459666.1_3'UTR|FOXP2_ENST00000393489.3_Intron|FOXP2_ENST00000403559.4_Intron|FOXP2_ENST00000378237.3_Intron|FOXP2_ENST00000390668.3_Missense_Mutation_p.P105S	NM_001172766.2|NM_014491.3|NM_148898.3	NP_001166237.1|NP_055306.1|NP_683696.2	O15409	FOXP2_HUMAN	forkhead box P2	86	Gln-rich.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						TGATGGGCATCCTCACAACAC	0.398000													17	76					0	0	1	0	0
ZNF611	81856	broad.mit.edu	37	19	53209544	53209544	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr19:53209544C>G	ENST00000543227.1	-	6	1038	c.764G>C	c.(763-765)gGa>gCa	p.G255A	ZNF611_ENST00000540744.1_Missense_Mutation_p.G255A|ZNF611_ENST00000453741.2_Missense_Mutation_p.G186A|ZNF611_ENST00000602162.1_Missense_Mutation_p.G186A|ZNF611_ENST00000595798.1_Missense_Mutation_p.G186A|ZNF611_ENST00000319783.1_Missense_Mutation_p.G255A	NM_001161499.1	NP_001154971.1	Q8N823	ZN611_HUMAN	zinc finger protein 611	255					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		TTGTTTGTCTCCTAAATGGGG	0.383000													30	104					0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54306146	54306146	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr15:54306146C>T	ENST00000545554.1	+	1	1046	c.1046C>T	c.(1045-1047)tCa>tTa	p.S349L	UNC13C_ENST00000260323.11_Missense_Mutation_p.S349L|UNC13C_ENST00000537900.1_Missense_Mutation_p.S349L			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	349					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		ATGGGTTTTTCAGATGCACCA	0.383000													3	25					0	0	1	0	0
GPR6	2830	broad.mit.edu	37	6	110301403	110301403	+	Silent	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr6:110301403G>A	ENST00000414000.2	+	3	1372	c.1133G>A	c.(1132-1134)tGa>tAa	p.*378*	GPR6_ENST00000275169.3_Silent_p.*363*			P46095	GPR6_HUMAN	G protein-coupled receptor 6	0						integral to plasma membrane				breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		AGCGAGGTCTGAAGGGCTCGC	0.607000													21	65					0	0	1	0	0
DVL2	1856	broad.mit.edu	37	17	7132529	7132529	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr17:7132529G>C	ENST00000005340.5	-	8	1164	c.882C>G	c.(880-882)atC>atG	p.I294M	DVL2_ENST00000575458.1_Missense_Mutation_p.I288M|DVL2_ENST00000574642.1_5'UTR	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN	dishevelled segment polarity protein 2	294	PDZ.				canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter	cytosol|nucleus|plasma membrane	frizzled binding|identical protein binding|signal transducer activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						AGCCAATGTAGATGCCTCCGT	0.592000													22	63					0	0	1	0	0
STK31	56164	broad.mit.edu	37	7	23808778	23808778	+	Silent	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr7:23808778C>T	ENST00000354639.3	+	12	1976	c.1512C>T	c.(1510-1512)ttC>ttT	p.F504F	STK31_ENST00000355870.3_Silent_p.F527F|STK31_ENST00000428484.1_Silent_p.F504F|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000433467.2_Silent_p.F527F	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	527							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TAGCATGGTTCCAAAGAACCT	0.388000													13	49					0	0	1	0	0
KDM4A	9682	broad.mit.edu	37	1	44137182	44137182	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr1:44137182C>G	ENST00000372396.3	+	11	1504	c.1370C>G	c.(1369-1371)tCt>tGt	p.S457C		NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	457					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						TCAGATTATTCTGACTCCACT	0.453000													13	44					0	0	1	0	0
STK31	56164	broad.mit.edu	37	7	23810741	23810741	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr7:23810741G>C	ENST00000354639.3	+	14	2226	c.1762G>C	c.(1762-1764)Gag>Cag	p.E588Q	STK31_ENST00000355870.3_Missense_Mutation_p.E611Q|STK31_ENST00000428484.1_Missense_Mutation_p.E588Q|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000433467.2_Missense_Mutation_p.E611Q	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	611							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						GGACAGTATTGAGGTTTGATT	0.308000													13	51					0	0	1	0	0
SEC16A	9919	broad.mit.edu	37	9	139369010	139369010	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr9:139369010G>A	ENST00000313050.7	-	1	3131	c.3058C>T	c.(3058-3060)Cag>Tag	p.Q1020*	SEC16A_ENST00000290037.6_Nonsense_Mutation_p.Q842*|SEC16A_ENST00000431893.2_Nonsense_Mutation_p.Q842*|SEC16A_ENST00000371706.3_Nonsense_Mutation_p.Q842*	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	842	Required for endoplasmic reticulum localization.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		ACACTTTGCTGAGAAGCGAGG	0.527000													6	20					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7585151	7585151	+	Silent	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr6:7585151C>T	ENST00000379802.3	+	24	7997	c.7656C>T	c.(7654-7656)ctC>ctT	p.L2552L	DSP_ENST00000418664.2_Silent_p.L1953L	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2552	Globular 2.				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)		CCGGCAGCCTCAGCCTCACTC	0.483000													14	36					0	0	1	0	0
MUC3A	4584	broad.mit.edu	37	7	100608830	100608830	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr7:100608830G>A	ENST00000319509.7	+	7	2209	c.2209G>A	c.(2209-2211)Gac>Aac	p.D737N	RP11-395B7.2_ENST00000420080.1_RNA					mucin 3A, cell surface associated											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						GTCGGGCGTGGACAACGCCAT	0.657000													8	24					0	0	1	0	0
PIGO	84720	broad.mit.edu	37	9	35092728	35092728	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr9:35092728G>C	ENST00000378617.3	-	7	1550	c.1156C>G	c.(1156-1158)Cag>Gag	p.Q386E	PIGO_ENST00000341666.3_Missense_Mutation_p.Q386E|PIGO_ENST00000298004.5_Missense_Mutation_p.Q386E|PIGO_ENST00000361778.2_Missense_Mutation_p.Q386E	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	386					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			TGAAGGTCCTGAGTAGCAGCT	0.547000													12	29					0	0	1	0	0
BCR	613	broad.mit.edu	37	22	23524111	23524111	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr22:23524111G>C	ENST00000305877.8	+	1	1715	c.964G>C	c.(964-966)Gag>Cag	p.E322Q	BCR_ENST00000398512.5_Missense_Mutation_p.E322Q|BCR_ENST00000359540.3_Missense_Mutation_p.E322Q	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	322	Binding to ABL SH2-domain.|Kinase.				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						CCGGAGTTTTGAGGATTGCGG	0.662000			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""								7	9					0	0	1	0	0
SARDH	1757	broad.mit.edu	37	9	136596520	136596520	+	Silent	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr9:136596520G>C	ENST00000371872.4	-	4	854	c.597C>G	c.(595-597)ctC>ctG	p.L199L	SARDH_ENST00000371867.1_Silent_p.L110L|SARDH_ENST00000298628.5_Silent_p.L199L|SARDH_ENST00000439388.1_Silent_p.L199L|SARDH_ENST00000422262.2_Silent_p.L31L	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	199					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		GGGTCCCGTAGAGGTCGTCCA	0.627000													7	26					0	0	1	0	0
CHD1	1105	broad.mit.edu	37	5	98217734	98217734	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr5:98217734G>C	ENST00000284049.3	-	19	2961	c.2812C>G	c.(2812-2814)Caa>Gaa	p.Q938E		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	938	Helicase C-terminal.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	TCCATTCTTTGAATTACAAGA	0.343000													11	57					0	0	1	0	0
DLEC1	9940	broad.mit.edu	37	3	38137415	38137415	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr3:38137415G>C	ENST00000308059.6	+	14	2170	c.2149G>C	c.(2149-2151)Gag>Cag	p.E717Q	DLEC1_ENST00000346219.3_Missense_Mutation_p.E717Q|DLEC1_ENST00000452631.2_Missense_Mutation_p.E717Q			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	717					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		GATGGTGCTAGAGGAAGTCCC	0.572000													13	37					0	0	1	0	0
RBM12B	389677	broad.mit.edu	37	8	94747101	94747101	+	Nonsense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr8:94747101G>C	ENST00000399300.2	-	3	1751	c.1538C>G	c.(1537-1539)tCa>tGa	p.S513*	RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Nonsense_Mutation_p.S513*	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	513							nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			TGGGTCTTTTGAGTCAAATAA	0.428000													14	82					0	0	1	0	0
GATA2	2624	broad.mit.edu	37	3	128199904	128199904	+	Silent	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr3:128199904G>A	ENST00000341105.2	-	6	1732	c.1401C>T	c.(1399-1401)ttC>ttT	p.F467F	GATA2_ENST00000430265.2_Silent_p.F453F|GATA2_ENST00000489987.1_5'UTR|GATA2_ENST00000487848.1_Silent_p.F467F	NM_032638.4	NP_116027.2	P23769	GATA2_HUMAN	GATA binding protein 2	467					blood coagulation|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of Notch signaling pathway|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79				GBM - Glioblastoma multiforme(114;0.173)		GGGGGTGGCCGAAGGAGAGGC	0.672000			Mis		AML(CML blast transformation)								6	9					0	0	1	0	0
MYO9B	4650	broad.mit.edu	37	19	17265157	17265157	+	Silent	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr19:17265157G>A	ENST00000595618.1	+	6	1283	c.1131G>A	c.(1129-1131)ctG>ctA	p.L377L	CTD-3032J10.2_ENST00000599360.1_RNA|MYO9B_ENST00000594824.1_Silent_p.L377L|CTD-3032J10.2_ENST00000597216.1_RNA|MYO9B_ENST00000397274.2_Silent_p.L377L	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB	377	Myosin head-like.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						GGGAGGACCTGAAGCATGACT	0.582000													9	35					0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23855641	23855641	+	Silent	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr14:23855641C>G	ENST00000405093.3	-	33	4912	c.4842G>C	c.(4840-4842)ctG>ctC	p.L1614L	MYH6_ENST00000356287.3_Silent_p.L1614L	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1614					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TCTTCACCCTCAGGACCTCGT	0.607000													11	54					0	0	1	0	0
SULF2	55959	broad.mit.edu	37	20	46294034	46294034	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr20:46294034C>G	ENST00000359930.4	-	14	2757	c.1906G>C	c.(1906-1908)Gaa>Caa	p.E636Q	SULF2_ENST00000484875.1_Missense_Mutation_p.E636Q|SULF2_ENST00000467815.1_Missense_Mutation_p.E636Q|SULF2_ENST00000361612.4_Missense_Mutation_p.E636Q	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	636					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						TGCAGGGTTTCAATCTGAGGG	0.527000													20	76					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170150751	170150751	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr2:170150751C>G	ENST00000263816.3	-	6	844	c.559G>C	c.(559-561)Gag>Cag	p.E187Q	LRP2_ENST00000443831.1_Missense_Mutation_p.E187Q	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	187	LDL-receptor class A 5.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CATGAAAACTCATTGTGCAAG	0.433000													17	34					0	0	1	0	0
APOL5	80831	broad.mit.edu	37	22	36122624	36122624	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr22:36122624C>T	ENST00000249044.2	+	3	509	c.509C>T	c.(508-510)tCa>tTa	p.S170L		NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN	apolipoprotein L, 5	170					lipid metabolic process|lipid transport|lipoprotein metabolic process	cytoplasm|extracellular region	high-density lipoprotein particle binding|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						CTCATGCTCTCAGCAACTGGG	0.542000													6	66					0	0	1	0	0
YARS2	51067	broad.mit.edu	37	12	32903745	32903745	+	Silent	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr12:32903745G>C	ENST00000324868.8	-	3	1038	c.1011C>G	c.(1009-1011)gtC>gtG	p.V337V		NM_001040436.2	NP_001035526.1	Q9Y2Z4	SYYM_HUMAN	tyrosyl-tRNA synthetase 2, mitochondrial	337					tyrosyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|RNA binding|tyrosine-tRNA ligase activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	16	Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)				L-Tyrosine(DB00135)	CTGGCTCTTTGACATGCAGCT	0.433000													11	37					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152281042	152281042	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr1:152281042G>C	ENST00000368799.1	-	3	6355	c.6320C>G	c.(6319-6321)tCt>tGt	p.S2107C	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2107	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGGGCGCAGACTGTCCATG	0.567000									Ichthyosis				38	152					0	0	1	0	0
EXOC2	55770	broad.mit.edu	37	6	553855	553855	+	Splice_Site	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr6:553855G>A	ENST00000230449.4	-	21	2255	c.2120C>T	c.(2119-2121)tCa>tTa	p.S707L	EXOC2_ENST00000448181.3_Splice_Site_p.S302L	NM_018303.5	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	707					exocytosis|protein transport			p.S707L(1)		breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		CTGACTTACTGAGGTCAAGCT	0.383000													13	44					0	0	1	0	0
CAMKV	79012	broad.mit.edu	37	3	49898242	49898242	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr3:49898242C>G	ENST00000477224.1	-	8	1160	c.682G>C	c.(682-684)Gat>Cat	p.D228H	CAMKV_ENST00000296471.7_Missense_Mutation_p.D200H|CAMKV_ENST00000488336.1_Missense_Mutation_p.D228H|CAMKV_ENST00000463537.1_Missense_Mutation_p.D228H|CAMKV_ENST00000467248.1_Missense_Mutation_p.D153H|CAMKV_ENST00000466940.1_Missense_Mutation_p.D185H			Q8NCB2	CAMKV_HUMAN	CaM kinase-like vesicle-associated	228	Protein kinase.					cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		TTCTCATAATCATCTTCTTCC	0.498000													19	74					0	0	1	0	0
AGBL2	79841	broad.mit.edu	37	11	47713800	47713800	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr11:47713800C>G	ENST00000525123.1	-	9	988	c.703G>C	c.(703-705)Gaa>Caa	p.E235Q	AGBL2_ENST00000529712.1_5'UTR|AGBL2_ENST00000298861.4_Missense_Mutation_p.E235Q|AGBL2_ENST00000528244.1_Missense_Mutation_p.E197Q|AGBL2_ENST00000357610.3_Missense_Mutation_p.E235Q	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	235					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						TAGGAACCTTCTATAGGCACT	0.423000													13	47					0	0	1	0	0
ZRANB3	84083	broad.mit.edu	37	2	135965399	135965399	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr2:135965399G>C	ENST00000401392.1	-	19	2820	c.2608C>G	c.(2608-2610)Ctt>Gtt	p.L870V	ZRANB3_ENST00000412849.1_5'UTR|ZRANB3_ENST00000264159.6_Missense_Mutation_p.L872V|ZRANB3_ENST00000536680.1_Missense_Mutation_p.L870V			Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	872						intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		CCATCTTCAAGAAGTTTTCTA	0.373000													4	27					0	0	1	0	0
MECOM	2122	broad.mit.edu	37	3	168834378	168834378	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr3:168834378C>T	ENST00000464456.1	-	7	1918	c.718G>A	c.(718-720)Gag>Aag	p.E240K	MECOM_ENST00000264674.3_Missense_Mutation_p.E305K|MECOM_ENST00000460814.1_Missense_Mutation_p.E240K|MECOM_ENST00000472280.1_Missense_Mutation_p.E241K|MECOM_ENST00000468789.1_Missense_Mutation_p.E240K|MECOM_ENST00000433243.2_Missense_Mutation_p.E241K|MECOM_ENST00000494292.1_Missense_Mutation_p.E428K|MECOM_ENST00000392736.3_Missense_Mutation_p.E240K	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TTCTTGCCCTCACAAAACCTC	0.443000													20	130					0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77365633	77365633	+	Silent	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr9:77365633G>C	ENST00000451710.3	-	30	5241	c.5004C>G	c.(5002-5004)ctC>ctG	p.L1668L	TRPM6_ENST00000361255.3_Silent_p.L1663L|TRPM6_ENST00000449912.2_Silent_p.L1663L|TRPM6_ENST00000376871.3_Silent_p.L501L|TRPM6_ENST00000376864.4_Silent_p.L1668L|TRPM6_ENST00000360774.1_Silent_p.L1668L|TRPM6_ENST00000376872.3_Silent_p.L619L			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1668					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						AGTTTTTGCTGAGATCCTGAG	0.443000													6	55					0	0	1	0	0
ZFYVE16	9765	broad.mit.edu	37	5	79751510	79751510	+	Splice_Site	SNP	G	G	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr5:79751510G>T	ENST00000338008.5	+	11	3787		c.e11-1		ZFYVE16_ENST00000505560.1_Splice_Site|ZFYVE16_ENST00000510158.1_Splice_Site	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16						BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		CTTATGTATAGCATATCCTGC	0.318000													11	55					0.000978159	0.000994032	1	1	0
UPF3B	65109	broad.mit.edu	37	X	118985779	118985779	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chrX:118985779G>C	ENST00000276201.2	-	2	283	c.214C>G	c.(214-216)Caa>Gaa	p.Q72E	UPF3B_ENST00000345865.2_Missense_Mutation_p.Q72E	NM_080632.2	NP_542199.1	Q9BZI7	REN3B_HUMAN	UPF3 regulator of nonsense transcripts homolog B (yeast)	72	Necessary for interaction with UPF2.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription	cytosol|exon-exon junction complex|nucleoplasm	mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1)	30						GGCATAGGTTGAAGATGTTCC	0.323000													9	9					0	0	1	0	0
CCDC15	80071	broad.mit.edu	37	11	124857212	124857212	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr11:124857212G>C	ENST00000529051.1	+	8	1349	c.1090G>C	c.(1090-1092)Gaa>Caa	p.E364Q	CCDC15_ENST00000344762.5_Missense_Mutation_p.E364Q			Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	364						centrosome				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		CCAGGCTGTTGAAATGAAGGT	0.483000													15	73					0	0	1	0	0
SMAD4	4089	broad.mit.edu	37	18	48604632	48604632	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr18:48604632C>T	ENST00000342988.3	+	12	1992	c.1454C>T	c.(1453-1455)tCa>tTa	p.S485L	SMAD4_ENST00000588745.1_Missense_Mutation_p.S389L|SMAD4_ENST00000586253.1_3'UTR|SMAD4_ENST00000398417.2_Missense_Mutation_p.S485L	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	485	MH2.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TTAGGTCTGTCAGCTGCTGCT	0.463000													4	37					0	0	1	0	0
TMPRSS5	80975	broad.mit.edu	37	11	113568007	113568007	+	Silent	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr11:113568007G>A	ENST00000299882.5	-	5	610	c.462C>T	c.(460-462)ctC>ctT	p.L154L	TMPRSS5_ENST00000538955.1_Silent_p.L110L|TMPRSS5_ENST00000536856.1_5'UTR|TMPRSS5_ENST00000544634.1_Silent_p.L154L|TMPRSS5_ENST00000544476.1_Silent_p.L110L|TMPRSS5_ENST00000540540.1_5'UTR|TMPRSS5_ENST00000545579.1_Silent_p.L145L	NM_030770.2	NP_110397.2	Q9H3S3	TMPS5_HUMAN	transmembrane protease, serine 5	154	SRCR.				proteolysis	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity			endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	10		all_cancers(61;2.71e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.75e-06)|Epithelial(105;6.34e-05)|all cancers(92;0.000502)		CCTGTTACCTGAGATGCCCAA	0.617000													11	46					0	0	1	0	0
CDC37	11140	broad.mit.edu	37	19	10506702	10506702	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr19:10506702C>G	ENST00000222005.2	-	2	333	c.280G>C	c.(280-282)Gag>Cag	p.E94Q		NM_007065.3	NP_008996.1	Q16543	CDC37_HUMAN	cell division cycle 37	94					protein targeting|regulation of cyclin-dependent protein kinase activity|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway		unfolded protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	16			OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)		CTCCGCTCCTCCTTGCGCAGC	0.642000													8	89					0	0	1	0	0
GJA8	2703	broad.mit.edu	37	1	147380362	147380362	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr1:147380362G>A	ENST00000240986.4	+	2	333	c.280G>A	c.(280-282)Ggg>Agg	p.G94R	GJA8_ENST00000369235.1_Missense_Mutation_p.G94R	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	94					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					GATGTACGTGGGGCACGCGGT	0.657000													54	48					0	0	1	0	0
FBXW7	55294	broad.mit.edu	37	4	153273859	153273859	+	Silent	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr4:153273859C>T	ENST00000263981.5	-	1	264	c.24G>A	c.(22-24)ttG>ttA	p.L8L	FBXW7_ENST00000603841.1_Intron|FBXW7_ENST00000296555.5_Intron|FBXW7_ENST00000281708.4_Intron|FBXW7_ENST00000603548.1_Intron	NM_018315.4	NP_060785.2	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	0					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding			NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				AGCTCAGTATCAAACCGCTTC	0.458000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								7	14					0	0	1	0	0
ZNF582	147948	broad.mit.edu	37	19	56896385	56896385	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr19:56896385T>C	ENST00000301310.4	-	5	559	c.401A>G	c.(400-402)aAt>aGt	p.N134S	ZNF582_ENST00000586929.1_Missense_Mutation_p.N134S	NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN	zinc finger protein 582	134					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		TCTGTCTGGATTTCCCTGTTG	0.393000													22	80					0	0	1	0	0
PAH	5053	broad.mit.edu	37	12	103306618	103306618	+	Missense_Mutation	SNP	G	G	A	rs62642938		TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr12:103306618G>A	ENST00000553106.1	-	2	591	c.119C>T	c.(118-120)tCa>tTa	p.S40L	PAH_ENST00000307000.2_Missense_Mutation_p.S35L|PAH_ENST00000551988.1_5'UTR	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	40	ACT.		S -> L (in PKU).		catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	TTCTTTGAGTGAGAAGATCAG	0.373000													15	50					0	0	1	0	0
ACOT12	134526	broad.mit.edu	37	5	80681643	80681643	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr5:80681643C>G	ENST00000307624.3	-	2	158	c.130G>C	c.(130-132)Gag>Cag	p.E44Q	ACOT12_ENST00000513751.1_Missense_Mutation_p.E44Q	NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	44	Acyl coenzyme A hydrolase 1.				acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		GCATGTTTCTCAGCTTCAAAA	0.393000													3	19					0	0	1	0	0
SLC9A7P1	121456	broad.mit.edu	37	12	98850129	98850129	+	RNA	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr12:98850129G>C	ENST00000554295.1	-	0	794					NR_033801.1																						GTCAGTGGCAGAGATGATTGC	0.408000													4	21					0	0	1	0	0
NDST3	9348	broad.mit.edu	37	4	119163264	119163264	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr4:119163264C>G	ENST00000296499.5	+	12	2762	c.2359C>G	c.(2359-2361)Cta>Gta	p.L787V		NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	787	Heparan sulfate N-sulfotransferase 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						ACAGAAGTTTCTAGGAGTCTT	0.303000													24	92					0	0	1	0	0
SREBF2	6721	broad.mit.edu	37	22	42263176	42263176	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr22:42263176C>G	ENST00000361204.4	+	2	596	c.430C>G	c.(430-432)Cag>Gag	p.Q144E		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	144	Gln-rich.				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						acctcaaactcagctgcaacA	0.542000													7	34					0	0	1	0	0
MED23	9439	broad.mit.edu	37	6	131926605	131926605	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr6:131926605C>G	ENST00000403834.3	-	14	1579	c.1406G>C	c.(1405-1407)aGa>aCa	p.R469T	MED23_ENST00000540546.1_Missense_Mutation_p.R469T|MED23_ENST00000368068.3_Missense_Mutation_p.R463T|MED23_ENST00000368058.1_Missense_Mutation_p.R469T|MED23_ENST00000368053.4_Missense_Mutation_p.R469T|MED23_ENST00000354577.4_Missense_Mutation_p.R469T|MED23_ENST00000368060.3_Missense_Mutation_p.R463T|MED23_ENST00000539158.1_Intron|MED23_ENST00000545957.1_Missense_Mutation_p.R104T			Q9ULK4	MED23_HUMAN	mediator complex subunit 23	463					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)		ACTTTTATTTCTTAGACTCTG	0.289000													3	21					0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10415430	10415430	+	Silent	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr17:10415430G>A	ENST00000226207.5	-	13	1321	c.1227C>T	c.(1225-1227)gtC>gtT	p.V409V	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	409	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						ACTCATTGCCGACCTTGACCC	0.458000													33	187					0	0	1	0	0
COPS3	8533	broad.mit.edu	37	17	17150440	17150440	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr17:17150440G>A	ENST00000539941.2	-	12	1392	c.1184C>T	c.(1183-1185)tCa>tTa	p.S395L	COPS3_ENST00000439936.2_Missense_Mutation_p.S337L|COPS3_ENST00000268717.5_Missense_Mutation_p.S415L	NM_001199125.1	NP_001186054.1	Q9UNS2	CSN3_HUMAN	COP9 signalosome subunit 3	415					cullin deneddylation|response to light stimulus|signal transduction	cytoplasm|signalosome	protein binding			NS(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						TTTGTTTCCTGAATCATCTTC	0.428000													9	91					0	0	1	0	0
IGLON5	402665	broad.mit.edu	37	19	51827016	51827016	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr19:51827016C>G	ENST00000270642.8	+	3	259	c.259C>G	c.(259-261)Ctg>Gtg	p.L87V		NM_001101372.1	NP_001094842.1	A6NGN9	IGLO5_HUMAN	IgLON family member 5	87	Ig-like C2-type 1.					extracellular region				large_intestine(5)|lung(6)|prostate(1)	12						GCGGGTGCGGCTGCTCATCAA	0.662000													7	28					0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12368508	12368508	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr1:12368508G>A	ENST00000358136.3	+	27	6590	c.6460G>A	c.(6460-6462)Gat>Aat	p.D2154N	VPS13D_ENST00000356315.4_Missense_Mutation_p.D2154N	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	2154					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CTGCCTGCTGGATTGCGTTGT	0.463000													15	36					0	0	1	0	0
PIFO	128344	broad.mit.edu	37	1	111892843	111892843	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr1:111892843G>A	ENST00000369738.4	+	5	870	c.505G>A	c.(505-507)Gag>Aag	p.E169K	PIFO_ENST00000369737.4_Missense_Mutation_p.E136K|PIFO_ENST00000484512.1_3'UTR	NM_181643.4	NP_857594.2			primary cilia formation																		CCTAAAAGCTGAGGTAATAAG	0.428000													19	96					0	0	1	0	0
PTPRN	5798	broad.mit.edu	37	2	220172524	220172524	+	Silent	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr2:220172524G>A	ENST00000295718.2	-	2	396	c.156C>T	c.(154-156)gtC>gtT	p.V52V	PTPRN_ENST00000423636.2_5'UTR|PTPRN_ENST00000409251.3_Silent_p.V52V	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	52					response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		CCTGAATACAGACTTCCAGGT	0.532000													19	61					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179400511	179400511	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr2:179400511C>T	ENST00000589042.1	-	358	101055	c.100831G>A	c.(100831-100833)Gaa>Aaa	p.E33611K	TTN-AS1_ENST00000591466.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E24671K|TTN-AS1_ENST00000588716.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E24546K|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E24738K|TTN_ENST00000591111.1_Missense_Mutation_p.E31970K|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E31043K|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	31970							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)			CTGACCACTTCACCTCGGAGA	0.403000													7	33					0	0	1	0	0
CAMK2A	815	broad.mit.edu	37	5	149618304	149618304	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr5:149618304G>A	ENST00000348628.6	-	14	1657	c.992C>T	c.(991-993)tCa>tTa	p.S331L	CAMK2A_ENST00000398376.3_Missense_Mutation_p.S342L|CAMK2A_ENST00000351010.6_5'UTR	NM_015981.3|NM_171825.2	NP_057065.2|NP_741960.1	Q9UQM7	KCC2A_HUMAN	calcium/calmodulin-dependent protein kinase II alpha	331					interferon-gamma-mediated signaling pathway|positive regulation of NF-kappaB transcription factor activity|synaptic transmission	cell junction|cytosol|endocytic vesicle membrane|nucleoplasm|presynaptic membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)	15		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGTGCTCTCTGAGGATTCCTG	0.597000													4	11					0	0	1	0	0
KRT13	3860	broad.mit.edu	37	17	39659541	39659541	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr17:39659541C>G	ENST00000246635.3	-	3	779	c.733G>C	c.(733-735)Gag>Cag	p.E245Q	KRT13_ENST00000587544.1_Missense_Mutation_p.E245Q|KRT13_ENST00000336861.3_Missense_Mutation_p.E245Q	NM_153490.2	NP_705694	P13646	K1C13_HUMAN	keratin 13	245	Coil 1B.|Rod.				epidermis development	intermediate filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				CCGCTCACCTCTTCATGGTTC	0.572000													16	82					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61956290	61956290	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr10:61956290C>G	ENST00000280772.2	-	15	1974	c.1783G>C	c.(1783-1785)Ggg>Cgg	p.G595R	ANK3_ENST00000503366.1_Missense_Mutation_p.G578R|ANK3_ENST00000373827.2_Missense_Mutation_p.G589R	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)						establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CTTACCTTCCCAGCAGCATCT	0.433000													5	26					0	0	1	0	0
GLIS3	169792	broad.mit.edu	37	9	3932366	3932366	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr9:3932366C>A	ENST00000324333.10	-	5	1705	c.1512G>T	c.(1510-1512)agG>agT	p.R504S	GLIS3_ENST00000381971.3_Missense_Mutation_p.R659S|GLIS3_ENST00000461870.1_5'UTR	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	504					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)		TTACCTTTTTCCTTGCTTGTT	0.398000													14	69					2.61681e-11	2.78054e-11	1	1	0
ZNF644	84146	broad.mit.edu	37	1	91406670	91406670	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr1:91406670C>T	ENST00000370440.1	-	3	458	c.241G>A	c.(241-243)Gac>Aac	p.D81N	ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000337393.5_Missense_Mutation_p.D81N|ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000347275.5_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	81					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TCAGATTTGTCCTTTGACAGT	0.388000													18	91					0	0	1	0	0
DOLK	22845	broad.mit.edu	37	9	131709109	131709109	+	Silent	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr9:131709109C>T	ENST00000372586.3	-	1	789	c.474G>A	c.(472-474)tcG>tcA	p.S158S	RP11-101E3.5_ENST00000482796.1_Intron	NM_014908.3	NP_055723.1	Q9UPQ8	DOLK_HUMAN	dolichol kinase	158					dolichyl diphosphate biosynthetic process|dolichyl monophosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to endoplasmic reticulum membrane|membrane fraction	dolichol kinase activity			breast(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	11						CCACGCTCAACGAGTGCTTCA	0.532000													8	19					0	0	1	0	0
SERPINE1	5054	broad.mit.edu	37	7	100771753	100771753	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr7:100771753C>T	ENST00000223095.4	+	2	236	c.79C>T	c.(79-81)Ccc>Tcc	p.P27S	SERPINE1_ENST00000445463.2_Missense_Mutation_p.P27S	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	27					angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)	TGTGCACCATCCCCCATCCTA	0.607000													9	31					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176671771	176671771	+	Missense_Mutation	SNP	T	T	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr1:176671771T>G	ENST00000367662.3	+	9	4429	c.3265T>G	c.(3265-3267)Tac>Gac	p.Y1089D		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1089					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GATGTATCAGTACCAAGTTCT	0.512000													30	27					0	0	1	0	0
SYNJ1	8867	broad.mit.edu	37	21	34067402	34067402	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr21:34067402C>T	ENST00000382499.2	-	5	786	c.787G>A	c.(787-789)Gat>Aat	p.D263N	SYNJ1_ENST00000357345.3_Missense_Mutation_p.D224N|SYNJ1_ENST00000322229.7_Missense_Mutation_p.D224N|SYNJ1_ENST00000433931.2_Missense_Mutation_p.D263N|SYNJ1_ENST00000382491.3_Missense_Mutation_p.D224N	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN	synaptojanin 1	224	SAC.						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						ACATGACCATCATCATTTGTT	0.353000													31	58					0	0	1	0	0
MTMR12	54545	broad.mit.edu	37	5	32276800	32276800	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr5:32276800G>A	ENST00000382142.3	-	2	300	c.130C>T	c.(130-132)Cac>Tac	p.H44Y	MTMR12_ENST00000280285.5_Missense_Mutation_p.H44Y|MTMR12_ENST00000264934.5_Missense_Mutation_p.H44Y	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	44						cytoplasm	phosphatase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						GGCAACAAGTGAAGAGTTACT	0.353000													3	38					0	0	1	0	0
HAUS6	54801	broad.mit.edu	37	9	19058406	19058406	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr9:19058406G>C	ENST00000380502.3	-	16	2826	c.2359C>G	c.(2359-2361)Cta>Gta	p.L787V	HAUS6_ENST00000380496.1_Missense_Mutation_p.L651V	NM_001270890.1|NM_017645.4	NP_001257819.1|NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	787					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleus|spindle		p.L787V(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TTAAAACTTAGATGACCAACT	0.383000													11	36					0	0	1	0	0
KIAA1109	84162	broad.mit.edu	37	4	123227107	123227107	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr4:123227107C>T	ENST00000264501.4	+	57	10121	c.9748C>T	c.(9748-9750)Cga>Tga	p.R3250*	KIAA1109_ENST00000388738.3_Nonsense_Mutation_p.R3250*|KIAA1109_ENST00000455637.1_Nonsense_Mutation_p.R3250*			Q2LD37	K1109_HUMAN	KIAA1109	3250					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AAATGCCCTCCGAGAAGAAAT	0.358000													6	88					0	0	1	0	0
IGFBP1	3484	broad.mit.edu	37	7	45930194	45930194	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr7:45930194G>A	ENST00000275525.3	+	2	693	c.397G>A	c.(397-399)Gag>Aag	p.E133K	IGFBP1_ENST00000457280.1_Missense_Mutation_p.E133K|IGFBP1_ENST00000468955.1_Missense_Mutation_p.E133K	NM_000596.2	NP_000587.1	P08833	IBP1_HUMAN	insulin-like growth factor binding protein 1	133						extracellular space	insulin-like growth factor binding			large_intestine(2)|lung(4)	6						AACTGAGGAGGAGCTCCTGGA	0.537000											OREG0018048	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	46					0	0	1	0	0
WASF1	8936	broad.mit.edu	37	6	110421781	110421781	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr6:110421781C>T	ENST00000392589.1	-	11	2460	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K	WASF1_ENST00000392588.1_Missense_Mutation_p.E542K|WASF1_ENST00000359451.2_Missense_Mutation_p.E542K|WASF1_ENST00000392587.2_Missense_Mutation_p.E542K|WASF1_ENST00000392586.1_Missense_Mutation_p.E542K	NM_003931.2	NP_003922.1	Q92558	WASF1_HUMAN	WAS protein family, member 1	542					actin filament polymerization|cellular component movement	actin cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687)		TCACTATATTCAACAGCAATA	0.388000													9	38					0	0	1	0	0
ZFC3H1	196441	broad.mit.edu	37	12	72026239	72026239	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr12:72026239G>A	ENST00000378743.3	-	15	3231	c.2873C>T	c.(2872-2874)tCa>tTa	p.S958L		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	958					RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TAGTTCTGCTGAATGCTTTCT	0.363000													5	52					0	0	1	0	0
CTTN	2017	broad.mit.edu	37	11	70281184	70281184	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr11:70281184G>C	ENST00000301843.8	+	18	1775	c.1569G>C	c.(1567-1569)gaG>gaC	p.E523D	CTTN_ENST00000538675.1_Missense_Mutation_p.E207D|CTTN_ENST00000346329.3_Missense_Mutation_p.E486D|CTTN_ENST00000376561.3_Missense_Mutation_p.E486D	NM_005231.3	NP_005222.2	Q14247	SRC8_HUMAN	cortactin	523	SH3.					cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		CCAACATCGAGATGATTGACG	0.592000													18	52					0	0	1	0	0
CLIP1	6249	broad.mit.edu	37	12	122825795	122825795	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr12:122825795C>G	ENST00000358808.2	-	10	2077	c.1923G>C	c.(1921-1923)gaG>gaC	p.E641D	CLIP1_ENST00000361654.4_Missense_Mutation_p.E606D|CLIP1_ENST00000545889.1_Missense_Mutation_p.E342D|CLIP1_ENST00000537178.1_Missense_Mutation_p.E606D|CLIP1_ENST00000540338.1_Missense_Mutation_p.E652D|CLIP1_ENST00000302528.7_Missense_Mutation_p.E641D	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	652					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		ATTCTGCCGTCTCTGTTCCAA	0.433000													14	80					0	0	1	0	0
GPR137	56834	broad.mit.edu	37	11	64054107	64054107	+	Silent	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr11:64054107C>T	ENST00000539851.1	+	2	578	c.111C>T	c.(109-111)ctC>ctT	p.L37L	GPR137_ENST00000411458.1_Silent_p.L95L|GPR137_ENST00000377702.4_Silent_p.L37L|GPR137_ENST00000438980.2_Silent_p.L37L|GPR137_ENST00000313074.3_Silent_p.L37L	NM_001177358.1	NP_001170829.1	Q96N19	G137A_HUMAN	G protein-coupled receptor 137	37						integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						ATGCCCTGCTCTTCTTCTCCG	0.637000													19	67					0	0	1	0	0
KCNB1	3745	broad.mit.edu	37	20	47990230	47990230	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr20:47990230C>T	ENST00000371741.4	-	2	2033	c.1867G>A	c.(1867-1869)Gaa>Aaa	p.E623K		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	623					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CAGCCCACTTCTGGGGCTGTG	0.592000													11	20					0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118609486	118609486	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr1:118609486C>T	ENST00000336338.5	-	18	2487	c.2422G>A	c.(2422-2424)Gat>Aat	p.D808N		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	808						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TAGTAAGAATCAACACACCTA	0.363000													14	44					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141116408	141116408	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr2:141116408C>T	ENST00000389484.3	-	73	12210	c.11239G>A	c.(11239-11241)Gat>Aat	p.D3747N		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3747	LDL-receptor class A 31.				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)		TGATCTTCATCTGAATTGTCA	0.388000										TSP Lung(27;0.18)			15	51					0	0	1	0	0
NRROS	375387	broad.mit.edu	37	3	196387289	196387289	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr3:196387289C>G	ENST00000328557.4	+	3	978	c.775C>G	c.(775-777)Cac>Gac	p.H259D		NM_198565.1	NP_940967.1			negative regulator of reactive oxygen species																		GGACCTGTCTCACAACCAGCT	0.627000													5	69					0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240256741	240256741	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr1:240256741G>C	ENST00000319653.9	+	1	1562	c.1332G>C	c.(1330-1332)aaG>aaC	p.K444N		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	444					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCAGGATCAAGAGGCGGCCGG	0.687000													13	52					0	0	1	0	0
DOPEY2	9980	broad.mit.edu	37	21	37665798	37665798	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr21:37665798G>C	ENST00000399151.3	+	37	6911	c.6826G>C	c.(6826-6828)Gat>Cat	p.D2276H		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	2276					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TCCTGTCACAGATAGCCCAAG	0.413000													17	39					0	0	1	0	0
IFNW1	3467	broad.mit.edu	37	9	21141551	21141551	+	Silent	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr9:21141551G>A	ENST00000380229.2	-	1	593	c.19C>T	c.(19-21)Cta>Tta	p.L7L		NM_002177.1	NP_002168.1	P05000	IFNW1_HUMAN	interferon, omega 1	7					cell cycle arrest|defense response|response to virus	extracellular space	cytokine activity|cytokine receptor binding			endometrium(1)|kidney(1)|lung(2)|ovary(1)	5				GBM - Glioblastoma multiforme(5;2.35e-185)|Lung(24;2.24e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		GCTGCCAGTAGAGGGAACAGG	0.522000													7	49					0	0	1	0	0
PPIF	10105	broad.mit.edu	37	10	81113558	81113558	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr10:81113558C>G	ENST00000225174.3	+	6	655	c.584C>G	c.(583-585)tCc>tGc	p.S195C	PPIF_ENST00000394579.3_3'UTR	NM_005729.3	NP_005720.1	P30405	PPIF_HUMAN	peptidylprolyl isomerase F	195	PPIase cyclophilin-type.				protein folding	membrane fraction|mitochondrial matrix	peptidyl-prolyl cis-trans isomerase activity			endometrium(2)|lung(2)|skin(2)	6	all_cancers(46;0.0893)|Breast(12;8.52e-05)|all_epithelial(25;0.00449)|Prostate(51;0.00985)		Epithelial(14;0.00242)|all cancers(16;0.0069)|Colorectal(32;0.229)		Dimethyl sulfoxide(DB01093)|L-Proline(DB00172)	GGGAGGACATCCAAGAAGATT	0.532000													9	23					0	0	1	0	0
CDRT1	374286	broad.mit.edu	37	17	15522668	15522668	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr17:15522668C>G	ENST00000395906.3	-	1	158	c.159G>C	c.(157-159)caG>caC	p.Q53H	RP11-385D13.1_ENST00000455584.2_Intron	NM_006382.3	NP_006373.2	O95170	CDRT1_HUMAN	CMT1A duplicated region transcript 1	53										endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(2;1.36e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0541)		GAAACCTCCTCTGTGATATGT	0.428000													5	146					0	0	1	0	0
ATP13A2	23400	broad.mit.edu	37	1	17319020	17319020	+	Silent	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr1:17319020C>G	ENST00000452699.1	-	17	1980	c.1791G>C	c.(1789-1791)gtG>gtC	p.V597V	ATP13A2_ENST00000326735.8_Silent_p.V602V|ATP13A2_ENST00000341676.5_Silent_p.V597V|RP1-37C10.3_ENST00000446261.1_RNA	NM_001141973.1|NM_022089.2	NP_001135445.1|NP_071372.1	Q9NQ11	AT132_HUMAN	ATPase type 13A2	602					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		GGGGTCTCATCACTGCCAAGA	0.652000													20	84					0	0	1	0	0
HIST1H3I	8354	broad.mit.edu	37	6	27839706	27839706	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr6:27839706G>A	ENST00000328488.2	-	1	393	c.388C>T	c.(388-390)Cgc>Tgc	p.R130C		NM_003533.2	NP_003524.1	P68431	H31_HUMAN	histone cluster 1, H3i	130					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CCTCGGATGCGGCGCGCAAGC	0.522000													16	114					0	0	1	0	0
RAB11FIP1	80223	broad.mit.edu	37	8	37734862	37734862	+	Silent	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr8:37734862G>A	ENST00000330843.4	-	2	591	c.579C>T	c.(577-579)atC>atT	p.I193I	RAB11FIP1_ENST00000524118.1_Silent_p.I45I|RAB11FIP1_ENST00000522727.1_Silent_p.I45I|RAB11FIP1_ENST00000287263.4_Silent_p.I193I	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	193					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			TCGTGCTAGGGATGATGGCGG	0.443000													26	90					0	0	1	0	0
FLVCR2	55640	broad.mit.edu	37	14	76045651	76045651	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr14:76045651C>G	ENST00000238667.4	+	1	692	c.336C>G	c.(334-336)ttC>ttG	p.F112L	AC007182.6_ENST00000455232.1_RNA	NM_017791.2	NP_060261.2	Q9UPI3	FLVC2_HUMAN	feline leukemia virus subgroup C cellular receptor family, member 2	112			NIF -> I (in PVHH).		transmembrane transport	integral to membrane|plasma membrane	heme binding|heme transporter activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15				BRCA - Breast invasive adenocarcinoma(234;0.029)		ATAACATCTTCATGCACTTCT	0.547000													9	45					0	0	1	0	0
GRM5	2915	broad.mit.edu	37	11	88300897	88300897	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr11:88300897C>A	ENST00000418177.2	-	8	2321	c.1954G>T	c.(1954-1956)Ggt>Tgt	p.G652C	GRM5_ENST00000305432.5_Missense_Mutation_p.G652C|GRM5_ENST00000393297.1_Missense_Mutation_p.G652C|GRM5_ENST00000305447.4_Missense_Mutation_p.G652C|GRM5_ENST00000455756.2_Missense_Mutation_p.G652C			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	652					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	GGGGAGAGACCAATGCCAATT	0.488000													9	17					7.48243e-07	7.74524e-07	1	1	0
GPATCH3	63906	broad.mit.edu	37	1	27220757	27220757	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr1:27220757C>G	ENST00000361720.5	-	3	1044	c.1021G>C	c.(1021-1023)Gat>Cat	p.D341H		NM_022078.2	NP_071361.2	Q96I76	GPTC3_HUMAN	G patch domain containing 3	341						intracellular	nucleic acid binding			endometrium(2)|large_intestine(1)|lung(11)|skin(1)	15		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)		AACTGGGCATCAGTATAAAAC	0.572000													6	67					0	0	1	0	0
EDC4	23644	broad.mit.edu	37	16	67915076	67915076	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr16:67915076G>C	ENST00000358933.5	+	19	2868	c.2629G>C	c.(2629-2631)Gag>Cag	p.E877Q		NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	877					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		TGCCAGTGCTGAGCAAAGGTG	0.597000													3	36					0	0	1	0	0
PLA2G2A	5320	broad.mit.edu	37	1	20304519	20304519	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr1:20304519C>G	ENST00000375111.3	-	5	552	c.281G>C	c.(280-282)aGa>aCa	p.R94T	PLA2G2A_ENST00000400520.3_Missense_Mutation_p.R94T|PLA2G2A_ENST00000496748.1_5'UTR	NM_000300.3|NM_001161727.1	NP_000291.1|NP_001155199.1	P14555	PA2GA_HUMAN	phospholipase A2, group IIA (platelets, synovial fluid)	94					defense response to Gram-positive bacterium|lipid catabolic process|low-density lipoprotein particle remodeling|phosphatidic acid metabolic process|positive regulation of inflammatory response|positive regulation of macrophage derived foam cell differentiation	endoplasmic reticulum|extracellular space|membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|phospholipid binding			central_nervous_system(1)|lung(6)|prostate(1)|stomach(1)	9		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000138)|Kidney(64;0.000171)|GBM - Glioblastoma multiforme(114;0.00032)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		ACAGGTGATTCTGCTCCCCGA	0.507000													3	46					0	0	1	0	0
EFHC2	80258	broad.mit.edu	37	X	44089008	44089008	+	Silent	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chrX:44089008G>A	ENST00000420999.1	-	11	1721	c.1638C>T	c.(1636-1638)ctC>ctT	p.L546L		NM_025184.3	NP_079460.2	Q5JST6	EFHC2_HUMAN	EF-hand domain (C-terminal) containing 2	546							calcium ion binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	29						GGGCAAGTTTGAGGTTACTGA	0.408000													8	29					0	0	1	0	0
ZNF24	7572	broad.mit.edu	37	18	32917690	32917690	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr18:32917690C>T	ENST00000261332.6	-	4	792	c.613G>A	c.(613-615)Gag>Aag	p.E205K	ZNF24_ENST00000589881.1_3'UTR|ZNF24_ENST00000399061.3_Missense_Mutation_p.E205K	NM_006965.2	NP_008896.2	P17028	ZNF24_HUMAN	zinc finger protein 24	205					myelination|negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	15						GAAGGAAGCTCCTGCTTTGGA	0.388000													5	80					0	0	1	0	0
OIT3	170392	broad.mit.edu	37	10	74660207	74660207	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr10:74660207G>A	ENST00000334011.5	+	3	727	c.509G>A	c.(508-510)gGa>gAa	p.G170E		NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN	oncoprotein induced transcript 3	170						nuclear envelope	calcium ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					TGCGCTCCAGGAACTGTGCTA	0.453000													5	13					0	0	1	0	0
UGT2B4	7363	broad.mit.edu	37	4	70361310	70361310	+	Silent	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr4:70361310G>A	ENST00000305107.6	-	1	316	c.270C>T	c.(268-270)atC>atT	p.I90I	UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000512583.1_Silent_p.I90I|UGT2B4_ENST00000381096.3_Intron	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	90					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						CCAGCTGCTTGATAATATCCT	0.348000													4	24					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100364724	100364724	+	RNA	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr7:100364724G>C	ENST00000542585.1	+	0	4852				ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CCTATGTCCTGACCCGGCCTT	0.617000													19	24					0	0	1	0	0
RHBDF2	79651	broad.mit.edu	37	17	74468785	74468785	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr17:74468785G>A	ENST00000591885.1	-	18	2597	c.2047C>T	c.(2047-2049)Ctc>Ttc	p.L683F	RHBDF2_ENST00000389760.4_Missense_Mutation_p.L683F|RHBDF2_ENST00000313080.4_Missense_Mutation_p.L712F			Q6PJF5	RHDF2_HUMAN	rhomboid 5 homolog 2 (Drosophila)	712					negative regulation of protein secretion|protein transport|proteolysis	endoplasmic reticulum membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1)	27						CGGTATGGGAGAAAGATGGCA	0.612000													8	22					0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91630939	91630939	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr7:91630939G>C	ENST00000359028.2	+	9	1969	c.1744G>C	c.(1744-1746)Gat>Cat	p.D582H	AKAP9_ENST00000356239.3_Missense_Mutation_p.D570H|AKAP9_ENST00000358100.2_Missense_Mutation_p.D582H			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	582	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TACAGTGGAAGATTTGAAAGC	0.343000			T	BRAF	papillary thyroid								9	30					0	0	1	0	0
ZNF518A	9849	broad.mit.edu	37	10	97916829	97916829	+	RNA	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr10:97916829G>A	ENST00000534948.1	+	0	1607							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		GAGAGCTTCAGAAGCACCTTC	0.368000													19	32					0	0	1	0	0
SNX25	83891	broad.mit.edu	37	4	186180201	186180201	+	Silent	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr4:186180201G>C	ENST00000504273.1	+	3	516	c.222G>C	c.(220-222)ctG>ctC	p.L74L	SNX25_ENST00000264694.8_Silent_p.L74L			Q9H3E2	SNX25_HUMAN	sorting nexin 25	74	PXA.				cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		TCTGTGACCTGAAAGCTGCCA	0.393000													12	58					0	0	1	0	0
ANKS1B	56899	broad.mit.edu	37	12	100377964	100377964	+	Silent	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr12:100377964G>A	ENST00000547776.2	-	1	51	c.52C>T	c.(52-54)Ctg>Ttg	p.L18L	ANKS1B_ENST00000547010.1_5'UTR|ANKS1B_ENST00000329257.7_Silent_p.L18L	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	18						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		TTCTCCACCAGAGCCACATTT	0.622000													5	19					0	0	1	0	0
ARHGAP30	257106	broad.mit.edu	37	1	161018599	161018599	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr1:161018599C>T	ENST00000368013.3	-	12	2532	c.2212G>A	c.(2212-2214)Gga>Aga	p.G738R	ARHGAP30_ENST00000368015.1_Missense_Mutation_p.G561R|ARHGAP30_ENST00000368016.3_Intron	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	738	Glu-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			TCATCTCCTCCTGGTTCCTCC	0.478000													25	149					0	0	1	0	0
RASGRF1	5923	broad.mit.edu	37	15	79272977	79272977	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr15:79272977C>G	ENST00000419573.3	-	25	3801	c.3527G>C	c.(3526-3528)aGa>aCa	p.R1176T	RASGRF1_ENST00000394745.3_Missense_Mutation_p.R392T|RP11-16K12.1_ENST00000316148.4_RNA|RASGRF1_ENST00000558480.2_Missense_Mutation_p.R1160T|RASGRF1_ENST00000560334.1_5'UTR	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	1178	Ras-GEF.				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CAGAGCTTCTCTGAGATTCTT	0.428000													10	48					0	0	1	0	0
PRKCB	5579	broad.mit.edu	37	16	24043488	24043488	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr16:24043488A>G	ENST00000303531.7	+	4	472	c.320A>G	c.(319-321)cAc>cGc	p.H107R	PRKCB_ENST00000321728.7_Missense_Mutation_p.H107R	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	107					apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	TTTAAGATCCACACGTACTCC	0.512000													5	27					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9065727	9065727	+	Nonsense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr19:9065727G>C	ENST00000397910.4	-	3	21922	c.21719C>G	c.(21718-21720)tCa>tGa	p.S7240*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7242	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						GGAGGAAATTGACTCTTTCTG	0.468000													44	104					0	0	1	0	0
MRC1	4360	broad.mit.edu	37	10	17949613	17949613	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr10:17949613C>G	ENST00000331429.2	+	28	4080	c.3977C>G	c.(3976-3978)tCt>tGt	p.S1326C																	breast(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GGAGATCCCTCTGGTGAACGG	0.398000													9	40					0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77386741	77386741	+	Silent	SNP	G	G	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr9:77386741G>T	ENST00000451710.3	-	25	3651	c.3414C>A	c.(3412-3414)ctC>ctA	p.L1138L	TRPM6_ENST00000361255.3_Silent_p.L1133L|TRPM6_ENST00000449912.2_Silent_p.L1133L|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Silent_p.L1138L|TRPM6_ENST00000360774.1_Silent_p.L1138L|TRPM6_ENST00000376872.3_Intron			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1138					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CCTCCTTACTGAGGTAGAGTT	0.373000													18	91					1.01871e-10	1.07561e-10	1	1	0
PCDHB8	56128	broad.mit.edu	37	5	140559515	140559515	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr5:140559515C>T	ENST00000239444.2	+	1	2145	c.1900C>T	c.(1900-1902)Cgc>Tgc	p.R634C		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		634	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTGAGCGAGCGCGACGCGGC	0.692000													15	36					0	0	1	0	0
ZNF521	25925	broad.mit.edu	37	18	22671972	22671972	+	Silent	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr18:22671972C>T	ENST00000361524.3	-	6	3880	c.3732G>A	c.(3730-3732)ctG>ctA	p.L1244L	ZNF521_ENST00000584787.1_Silent_p.L1024L|ZNF521_ENST00000538137.2_Silent_p.L1244L	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	1244					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TGTGCTCTATCAGGTGGCACT	0.493000			T	PAX5	ALL								6	34					0	0	1	0	0
RASGEF1C	255426	broad.mit.edu	37	5	179546350	179546350	+	Silent	SNP	G	G	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr5:179546350G>T	ENST00000393371.2	-	7	1199	c.903C>A	c.(901-903)atC>atA	p.I301I	RASGEF1C_ENST00000519883.1_5'UTR|RASGEF1C_ENST00000361132.4_Silent_p.I301I|RASGEF1C_ENST00000522500.1_Silent_p.I150I			Q8N431	RGF1C_HUMAN	RasGEF domain family, member 1C	301	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity			breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACTCACAGATGATGGCCATGA	0.642000													14	32					1.67942e-08	1.76207e-08	1	1	0
VCAN	1462	broad.mit.edu	37	5	82835730	82835730	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr5:82835730G>A	ENST00000265077.3	+	8	7473	c.6908G>A	c.(6907-6909)aGa>aAa	p.R2303K	VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.R1316K|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000342785.4_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2303	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		GACTTTAACAGAATGGAAAAT	0.358000													8	48					0	0	1	0	0
BRD2	6046	broad.mit.edu	37	6	32942477	32942477	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr6:32942477C>G	ENST00000395289.2	+	3	1869	c.268C>G	c.(268-270)Ctg>Gtg	p.L90V	BRD2_ENST00000449085.2_Missense_Mutation_p.L43V|BRD2_ENST00000395287.1_Missense_Mutation_p.L90V|BRD2_ENST00000443797.2_5'UTR|BRD2_ENST00000374825.4_Missense_Mutation_p.L90V|BRD2_ENST00000374831.4_Missense_Mutation_p.L90V			P25440	BRD2_HUMAN	bromodomain containing 2	90					spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5						GATGAAGGCTCTGTGGAAACA	0.562000													5	17					0	0	1	0	0
ACOT12	134526	broad.mit.edu	37	5	80681642	80681642	+	Missense_Mutation	SNP	T	T	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr5:80681642T>A	ENST00000307624.3	-	2	159	c.131A>T	c.(130-132)gAg>gTg	p.E44V	ACOT12_ENST00000513751.1_Missense_Mutation_p.E44V	NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	44	Acyl coenzyme A hydrolase 1.				acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		AGCATGTTTCTCAGCTTCAAA	0.398000													3	19					0	0	1	0	0
SWT1	54823	broad.mit.edu	37	1	185175868	185175868	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr1:185175868G>C	ENST00000367500.4	+	13	2110	c.1945G>C	c.(1945-1947)Gag>Cag	p.E649Q	SWT1_ENST00000367501.3_Missense_Mutation_p.E649Q	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	649										breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						TTTAACTATTGAGAGCCTATA	0.338000													4	43					0	0	1	0	0
NFATC1	4772	broad.mit.edu	37	18	77221328	77221328	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr18:77221328G>A	ENST00000253506.5	+	7	2290	c.1921G>A	c.(1921-1923)Gag>Aag	p.E641K	NFATC1_ENST00000592223.1_Missense_Mutation_p.E628K|NFATC1_ENST00000587635.1_Silent_p.G612G|NFATC1_ENST00000545796.1_Missense_Mutation_p.E169K|NFATC1_ENST00000542384.1_Missense_Mutation_p.E641K|NFATC1_ENST00000427363.2_Missense_Mutation_p.E641K|NFATC1_ENST00000591814.1_Missense_Mutation_p.E641K|NFATC1_ENST00000329101.4_Missense_Mutation_p.E628K|NFATC1_ENST00000586434.1_Missense_Mutation_p.E628K|NFATC1_ENST00000397790.2_Missense_Mutation_p.E169K|NFATC1_ENST00000318065.5_Missense_Mutation_p.E628K	NM_006162.3	NP_006153.2	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	641					intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		CCATGTCTGGGAGATGGAAGC	0.622000													5	38					0	0	1	0	0
TMEM45B	120224	broad.mit.edu	37	11	129725682	129725682	+	Silent	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr11:129725682C>T	ENST00000281441.3	+	4	553	c.465C>T	c.(463-465)ttC>ttT	p.F155F	TMEM45B_ENST00000524567.1_Silent_p.F155F	NM_138788.3	NP_620143.1	Q96B21	TM45B_HUMAN	transmembrane protein 45B	155						integral to membrane				endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.012)|Lung(977;0.179)|LUSC - Lung squamous cell carcinoma(976;0.189)		ATGCTCTGTTCGGAGGGTGTG	0.532000													6	89					0	0	1	0	0
MPDZ	8777	broad.mit.edu	37	9	13138005	13138005	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr9:13138005C>G	ENST00000319217.7	-	29	4398	c.4151G>C	c.(4150-4152)gGa>gCa	p.G1384A	MPDZ_ENST00000536827.1_Missense_Mutation_p.G1351A|MPDZ_ENST00000447879.1_Missense_Mutation_p.G1351A|MPDZ_ENST00000540202.1_5'UTR|MPDZ_ENST00000538841.1_Missense_Mutation_p.G243A|MPDZ_ENST00000381015.4_Missense_Mutation_p.G1384A|MPDZ_ENST00000381022.2_Missense_Mutation_p.G1384A|MPDZ_ENST00000541718.1_Missense_Mutation_p.G1384A|MPDZ_ENST00000546205.1_Missense_Mutation_p.G1398A	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1384	PDZ 8.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		TCCTGCAGCTCCATTTGGATC	0.403000													4	18					0	0	1	0	0
ANAPC4	29945	broad.mit.edu	37	4	25391798	25391798	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr4:25391798G>C	ENST00000315368.3	+	8	698	c.556G>C	c.(556-558)Gag>Cag	p.E186Q	ANAPC4_ENST00000510092.1_Missense_Mutation_p.E186Q	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN	anaphase promoting complex subunit 4	186					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|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|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity	p.E186*(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				TGGATTTATTGAGCTTTATGC	0.338000													13	38					0	0	1	0	0
OR8S1	341568	broad.mit.edu	37	12	48920205	48920205	+	Nonsense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr12:48920205C>G	ENST00000310194.1	+	1	791	c.791C>G	c.(790-792)tCa>tGa	p.S264*	OR8S1_ENST00000551654.1_Intron	NM_001005203.2	NP_001005203.2	Q8NH09	OR8S1_HUMAN	olfactory receptor, family 8, subfamily S, member 1	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						ATGCCAAACTCAGGTTCCCCC	0.498000													7	56					0	0	1	0	0
KIR3DX1	90011	broad.mit.edu	37	19	55046971	55046971	+	Silent	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr19:55046971G>A	ENST00000335056.3	+	4	554	c.516G>A	c.(514-516)ggG>ggA	p.G172G	KIR3DX1_ENST00000482404.1_3'UTR																endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1)	24				GBM - Glioblastoma multiforme(193;0.099)		TGGAGGCTGGGATCCATTACG	0.527000													7	31					0	0	1	0	0
FAM47E-STBD1	100631383	broad.mit.edu	37	4	77230462	77230462	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr4:77230462C>G	ENST00000237642.6	+	2	1130	c.386C>G	c.(385-387)tCt>tGt	p.S129C	FAM47E_ENST00000515604.1_3'UTR|FAM47E-STBD1_ENST00000539752.1_5'UTR	NM_003943.4	NP_003934.1																					CCAGCTACCTCTGAGACCAGT	0.438000													6	26					0	0	1	0	0
TP73	7161	broad.mit.edu	37	1	3624168	3624168	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr1:3624168C>T	ENST00000378295.4	+	4	397	c.242C>T	c.(241-243)tCg>tTg	p.S81L	TP73_ENST00000603362.1_Missense_Mutation_p.S81L|TP73_ENST00000378288.4_Missense_Mutation_p.S32L|TP73_ENST00000378285.1_Missense_Mutation_p.S32L|TP73_ENST00000604479.1_Missense_Mutation_p.S81L|TP73_ENST00000346387.4_Missense_Mutation_p.S81L|TP73_ENST00000378280.1_Missense_Mutation_p.S32L|TP73_ENST00000354437.4_Missense_Mutation_p.S81L|TP73_ENST00000378290.4_Missense_Mutation_p.S10L|TP73_ENST00000604074.1_Missense_Mutation_p.S81L|TP73_ENST00000357733.3_Missense_Mutation_p.S81L	NM_001204185.1|NM_005427.3	NP_001191114.1|NP_005418.1	O15350	P73_HUMAN	tumor protein p73	81					cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to gamma radiation|response to X-ray	chromatin|cytosol|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1)	20	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		CGCGCGGCCTCGGCCAGCCCC	0.677000													11	65					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21238404	21238404	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr2:21238404C>A	ENST00000233242.1	-	22	3473	c.3346G>T	c.(3346-3348)Gaa>Taa	p.E1116*		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1116					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)	TTTCTTTCTTCCTTTGTGTCA	0.433000													9	26					3.07112e-06	3.17243e-06	1	1	0
ZNF18	7566	broad.mit.edu	37	17	11886701	11886701	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr17:11886701C>G	ENST00000322748.3	-	8	1379	c.775G>C	c.(775-777)Gac>Cac	p.D259H	ZNF18_ENST00000454073.3_Missense_Mutation_p.D258H|ZNF18_ENST00000580306.2_Missense_Mutation_p.D259H	NM_144680.2	NP_653281.2	P17022	ZNF18_HUMAN	zinc finger protein 18	259	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	14				Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233)		TTAGTCAGGTCAGATTTGGGA	0.453000													10	51					0	0	1	0	0
SGSM3	27352	broad.mit.edu	37	22	40801808	40801808	+	Nonsense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr22:40801808C>G	ENST00000248929.9	+	8	963	c.774C>G	c.(772-774)taC>taG	p.Y258*	SGSM3_ENST00000454798.2_Nonsense_Mutation_p.Y191*	NM_015705.4	NP_056520.2	Q96HU1	SGSM3_HUMAN	small G protein signaling modulator 3	258	Rab-GAP TBC.				cell cycle arrest|Rap protein signal transduction	cytoplasm	Rab GTPase activator activity|Rab GTPase binding			cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						TTGTCCAGTACCTGCCTCGCC	0.637000													20	30					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152404175	152404175	+	Silent	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr2:152404175G>C	ENST00000397345.3	-	132	20437	c.20235C>G	c.(20233-20235)gtC>gtG	p.V6745V	NEB_ENST00000172853.10_Silent_p.V5044V|NEB_ENST00000409198.1_Silent_p.V5044V|NEB_ENST00000603639.1_Silent_p.V6745V|NEB_ENST00000427231.2_Silent_p.V6745V|NEB_ENST00000604864.1_Silent_p.V6745V	NM_001164508.1	NP_001157980	P20929	NEBU_HUMAN	nebulin	5044					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GTGTCTTCTTGACTTGGCGGA	0.428000													6	11					0	0	1	0	0
IFNW1	3467	broad.mit.edu	37	9	21141383	21141383	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr9:21141383G>A	ENST00000380229.2	-	1	761	c.187C>T	c.(187-189)Cag>Tag	p.Q63*		NM_002177.1	NP_002168.1	P05000	IFNW1_HUMAN	interferon, omega 1	63					cell cycle arrest|defense response|response to virus	extracellular space	cytokine activity|cytokine receptor binding			endometrium(1)|kidney(1)|lung(2)|ovary(1)	5				GBM - Glioblastoma multiforme(5;2.35e-185)|Lung(24;2.24e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		ACCATCTCCTGGGGGAACCTG	0.527000													10	64					0	0	1	0	0
CA2	760	broad.mit.edu	37	8	86392977	86392977	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr8:86392977C>G	ENST00000285379.5	+	7	972	c.742C>G	c.(742-744)Cag>Gag	p.Q248E		NM_000067.2	NP_000058.1	P00918	CAH2_HUMAN	carbonic anhydrase II	248					one-carbon metabolic process	apical part of cell	carbonate dehydratase activity|zinc ion binding			central_nervous_system(2)|cervix(1)|large_intestine(2)|lung(5)|prostate(1)	11					Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)	GCGCCCAGCTCAGCCACTGAA	0.428000													10	20					0	0	1	0	0
TESK1	7016	broad.mit.edu	37	9	35606242	35606242	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr9:35606242G>C	ENST00000336395.5	+	3	600	c.350G>C	c.(349-351)gGa>gCa	p.G117A	TESK1_ENST00000498522.1_3'UTR	NM_006285.2	NP_006276.2	Q15569	TESK1_HUMAN	testis-specific kinase 1	117	Protein kinase.				cell junction assembly|spermatogenesis	cytosol	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	27			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			AGGTTCATGGGAGTCTGTGTG	0.557000													9	42					0	0	1	0	0
MON2	23041	broad.mit.edu	37	12	62972277	62972277	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr12:62972277G>C	ENST00000393630.3	+	32	4961	c.4570G>C	c.(4570-4572)Gat>Cat	p.D1524H	MON2_ENST00000280379.6_Missense_Mutation_p.D1524H|MON2_ENST00000393629.2_Missense_Mutation_p.D1517H|MON2_ENST00000552738.1_Missense_Mutation_p.D1494H|MON2_ENST00000393632.2_Missense_Mutation_p.D1523H|MON2_ENST00000546600.1_Missense_Mutation_p.D1523H	NM_001278470.1|NM_001278472.1	NP_001265399.1|NP_001265401.1	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	1524					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		TGAAAATATTGATGTCGAGGT	0.284000													4	26					0	0	1	0	0
FRMPD1	22844	broad.mit.edu	37	9	37733772	37733772	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr9:37733772C>T	ENST00000539465.1	+	12	1761	c.1168C>T	c.(1168-1170)Ctc>Ttc	p.L390F	FRMPD1_ENST00000536622.1_Missense_Mutation_p.L212F|FRMPD1_ENST00000541302.1_Missense_Mutation_p.L259F|RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Missense_Mutation_p.L390F			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	390	FERM.					cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		TCTACAGATCCTCGGAGAACT	0.358000													11	58					0	0	1	0	0
TMEM115	11070	broad.mit.edu	37	3	50396206	50396206	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr3:50396206C>A	ENST00000266025.3	-	1	835	c.289G>T	c.(289-291)Gag>Tag	p.E97*	XXcos-LUCA11.5_ENST00000606589.1_Intron	NM_007024.4	NP_008955.1	Q12893	TM115_HUMAN	transmembrane protein 115	97					negative regulation of cell proliferation	Golgi apparatus|integral to membrane|nucleus				breast(2)|endometrium(1)|lung(1)|prostate(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		ATGAGCAGCTCCAAGGCCCCC	0.612000													15	43					5.03518e-11	5.32762e-11	1	1	0
STK38L	23012	broad.mit.edu	37	12	27467992	27467992	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr12:27467992G>C	ENST00000389032.3	+	8	886	c.717G>C	c.(715-717)aaG>aaC	p.K239N	STK38L_ENST00000539577.1_Missense_Mutation_p.K146N	NM_015000.3	NP_055815.1	Q9Y2H1	ST38L_HUMAN	serine/threonine kinase 38 like	239	Protein kinase.				intracellular protein kinase cascade|regulation of cellular component organization	actin cytoskeleton|cytoplasm	actin binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12	Colorectal(261;0.0847)					CGGGATTAAAGAAAGCTCACA	0.323000													15	38					0	0	1	0	0
FLT4	2324	broad.mit.edu	37	5	180048837	180048837	+	Silent	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr5:180048837G>C	ENST00000261937.6	-	13	1803	c.1725C>G	c.(1723-1725)ctC>ctG	p.L575L	FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000393347.3_Silent_p.L575L|FLT4_ENST00000502649.1_Silent_p.L575L	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	575	Ig-like C2-type 6.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	GGCAGCTCAGGAGCACCGGCT	0.632000													15	44					0	0	1	0	0
AVIL	10677	broad.mit.edu	37	12	58200272	58200272	+	Silent	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr12:58200272G>A	ENST00000537081.1	-	13	1520	c.1521C>T	c.(1519-1521)ctC>ctT	p.L507L	TSFM_ENST00000548851.1_Intron|AVIL_ENST00000257861.3_Silent_p.L514L|AVIL_ENST00000550083.1_5'UTR			O75366	AVIL_HUMAN	advillin	514	Core (By similarity).				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					GAATTTGGAAGAGTCTTACTG	0.488000													10	45					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7584878	7584878	+	Silent	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr6:7584878C>T	ENST00000379802.3	+	24	7724	c.7383C>T	c.(7381-7383)ctC>ctT	p.L2461L	DSP_ENST00000418664.2_Silent_p.L1862L	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2461	Globular 2.				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)		AGAATACCCTCAGGAAGCGTA	0.413000													14	49					0	0	1	0	0
STK17A	9263	broad.mit.edu	37	7	43659295	43659295	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr7:43659295G>A	ENST00000319357.5	+	4	843	c.664G>A	c.(664-666)Gaa>Aaa	p.E222K	STK17A_ENST00000462448.1_3'UTR	NM_004760.2	NP_004751.2	Q9UEE5	ST17A_HUMAN	serine/threonine kinase 17a	222	Protein kinase.				apoptosis|induction of apoptosis|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						AGAGCTCCGAGAAATTATGGG	0.408000													15	59					0	0	1	0	0
TIAM1	7074	broad.mit.edu	37	21	32513513	32513513	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr21:32513513C>G	ENST00000286827.3	-	23	4168	c.3697G>C	c.(3697-3699)Gag>Cag	p.E1233Q	TIAM1_ENST00000541036.1_Missense_Mutation_p.E1173Q	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1233	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						TTCTGCATCTCATTGATGTGA	0.473000													4	15					0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77369704	77369704	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr16:77369704C>T	ENST00000282849.5	-	12	2226	c.1808G>A	c.(1807-1809)cGg>cAg	p.R603Q		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	603	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						ACCACATGTCCGGGAACATTC	0.577000													17	107					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76525703	76525703	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr17:76525703C>T	ENST00000389840.5	-	22	3482	c.3358G>A	c.(3358-3360)Gat>Aat	p.D1120N	DNAH17_ENST00000585328.1_Missense_Mutation_p.D1117N					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			ACAAGCCCATCATAGTCCCCC	0.557000													29	45					0	0	1	0	0
TRAV27	28655	broad.mit.edu	37	14	22616478	22616478	+	RNA	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr14:22616478G>C	ENST00000390457.2	+	0	316																											GTGGAGAAGTGAAGAAGCTGA	0.502000													3	31					0	0	1	0	0
MYCBP2	23077	broad.mit.edu	37	13	77759426	77759426	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr13:77759426C>A	ENST00000407578.2	-	32	4797	c.4531G>T	c.(4531-4533)Gaa>Taa	p.E1511*	MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Nonsense_Mutation_p.E1473*|MYCBP2_ENST00000544440.2_Nonsense_Mutation_p.E1473*	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	1473					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TCAACTCCTTCTGATAAAATT	0.378000													20	79					5.03518e-11	5.32762e-11	1	1	0
ZEB2	9839	broad.mit.edu	37	2	145147383	145147383	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr2:145147383C>G	ENST00000558170.2	-	10	4464	c.3280G>C	c.(3280-3282)Gag>Cag	p.E1094Q	ZEB2_ENST00000303660.4_Missense_Mutation_p.E1094Q|ZEB2_ENST00000539609.3_Missense_Mutation_p.E1070Q|ZEB2_ENST00000409487.3_Missense_Mutation_p.E1094Q	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	1094	Glu-rich (acidic).					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding	p.E1094K(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		TCGCGCGCCTCGCGCTCCGCC	0.617000													15	49					0	0	1	0	0
HPS6	79803	broad.mit.edu	37	10	103827142	103827142	+	Silent	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr10:103827142C>G	ENST00000299238.5	+	1	1996	c.1911C>G	c.(1909-1911)ctC>ctG	p.L637L		NM_024747.5	NP_079023.2	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome 6	637						cytosol|early endosome membrane|endoplasmic reticulum|microsome				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		AAGCTGTGCTCCAAGCTGTCG	0.617000									Hermansky-Pudlak syndrome				15	27					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7584134	7584134	+	Silent	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr6:7584134C>T	ENST00000379802.3	+	24	6980	c.6639C>T	c.(6637-6639)atC>atT	p.I2213I	DSP_ENST00000418664.2_Silent_p.I1614I	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2213	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	p.I2213M(2)		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)		TCCAAGGAATCAGACAACCTG	0.468000													7	53					0	0	1	0	0
FOXL2	668	broad.mit.edu	37	3	138665349	138665349	+	Silent	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr3:138665349C>T	ENST00000330315.3	-	1	633	c.216G>A	c.(214-216)gaG>gaA	p.E72E		NM_023067.3	NP_075555.1	P58012	FOXL2_HUMAN	forkhead box L2	72					convergent extension|DNA fragmentation involved in apoptotic nuclear change|embryonic eye morphogenesis|extraocular skeletal muscle development|female somatic sex determination|induction of apoptosis|menstruation|negative regulation of transcription, DNA-dependent|ovarian follicle development|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin conjugating enzyme binding			large_intestine(1)|lung(1)|ovary(333)|skin(1)	336						TGAGCCTCTTCTCCGCGCTCT	0.632000			Mis		granulosa-cell tumour of the ovary		"""Blepharophimosis, ptosis and epicanthus inversus Types I, II; Premature ovarian failure type III"""						14	78					0	0	1	0	0
DAGLA	747	broad.mit.edu	37	11	61508657	61508657	+	Silent	SNP	G	G	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr11:61508657G>T	ENST00000257215.5	+	19	2123	c.2007G>T	c.(2005-2007)ggG>ggT	p.G669G		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	669					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		ACAACAAGGGGAAGACCGCTC	0.642000													10	26					7.48243e-07	7.74524e-07	1	1	0
MR1	3140	broad.mit.edu	37	1	181024377	181024377	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr1:181024377C>G	ENST00000367580.5	+	6	1007	c.1002C>G	c.(1000-1002)atC>atG	p.I334M	MR1_ENST00000367579.3_Missense_Mutation_p.I289M|MR1_ENST00000434571.2_Missense_Mutation_p.I207M|MR1_ENST00000438435.2_3'UTR|MR1_ENST00000282990.6_Missense_Mutation_p.I242M	NM_001531.2	NP_001522.1	Q95460	HMR1_HUMAN	major histocompatibility complex, class I-related	334					antigen processing and presentation of peptide antigen via MHC class I|immune response	endoplasmic reticulum|extracellular region|integral to membrane|MHC class I protein complex	MHC class I receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	18						ATGGAGCCATCTACCTTCCAA	0.433000													14	74					0	0	1	0	0
ALOX12	239	broad.mit.edu	37	17	6903688	6903688	+	Silent	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr17:6903688C>T	ENST00000251535.6	+	7	894	c.841C>T	c.(841-843)Ctg>Ttg	p.L281L	RP11-589P10.7_ENST00000572547.1_RNA|AC027763.2_ENST00000399541.2_Intron|AC027763.2_ENST00000574377.1_Intron|AC027763.2_ENST00000575727.1_Intron	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase	281	Lipoxygenase.				anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation	cytosol|sarcolemma	arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						CTTCATCCTTCTGGATGGAAT	0.542000													31	76					0	0	1	0	0
UFSP2	55325	broad.mit.edu	37	4	186339602	186339602	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr4:186339602G>A	ENST00000264689.6	-	4	442	c.326C>T	c.(325-327)tCa>tTa	p.S109L	UFSP2_ENST00000502282.1_5'UTR	NM_018359.3	NP_060829.2	Q9NUQ7	UFSP2_HUMAN	UFM1-specific peptidase 2	109						endoplasmic reticulum|nucleus	small conjugating protein-specific protease activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;3.4e-25)|Epithelial(43;2.23e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;8.1e-05)|GBM - Glioblastoma multiforme(59;0.000148)|STAD - Stomach adenocarcinoma(60;0.000782)|LUSC - Lung squamous cell carcinoma(40;0.00939)|COAD - Colon adenocarcinoma(29;0.0108)|READ - Rectum adenocarcinoma(43;0.166)		TACCATGTCTGATAACTTTTT	0.279000													4	23					0	0	1	0	0
TATDN2	9797	broad.mit.edu	37	3	10291002	10291002	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr3:10291002C>G	ENST00000287652.4	+	2	1169	c.118C>G	c.(118-120)Cag>Gag	p.Q40E	TATDN2_ENST00000448281.2_Missense_Mutation_p.Q40E	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	40						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						CCGGCCAGCTCAGAGGTCTGC	0.667000													23	61					0	0	1	0	0
EIF4ENIF1	56478	broad.mit.edu	37	22	31859710	31859710	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr22:31859710C>G	ENST00000397525.1	-	5	765	c.542G>C	c.(541-543)aGa>aCa	p.R181T	EIF4ENIF1_ENST00000344710.5_Intron|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.R181T|RP11-247I13.11_ENST00000464523.1_RNA|RP11-247I13.8_ENST00000439588.1_RNA|RP11-247I13.11_ENST00000483736.1_RNA|EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.R181T	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	181	Arg-rich.					nucleus	protein binding|protein transporter activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GTCTCTGTCTCTCAAGTCCCG	0.468000													13	41					0	0	1	0	0
DNM2	1785	broad.mit.edu	37	19	10939861	10939861	+	Silent	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr19:10939861C>T	ENST00000314646.5	+	19	2372	c.2208C>T	c.(2206-2208)atC>atT	p.I736I	DNM2_ENST00000408974.4_Silent_p.I732I|DNM2_ENST00000355667.6_Silent_p.I736I|DNM2_ENST00000585892.1_Silent_p.I736I|DNM2_ENST00000359692.6_Silent_p.I732I|DNM2_ENST00000389253.4_Silent_p.I736I			P50570	DYN2_HUMAN	dynamin 2	736	GED.				G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding	p.I732I(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			TCAACATCATCGGTGACATCA	0.637000			"""F, N, Splice, Mis, O"""		ETP ALL								4	38					0	0	1	0	0
CLASP2	23122	broad.mit.edu	37	3	33612275	33612275	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr3:33612275C>T	ENST00000399362.4	-	27	3084	c.2731G>A	c.(2731-2733)Gaa>Aaa	p.E911K	CLASP2_ENST00000480013.1_Missense_Mutation_p.E691K|CLASP2_ENST00000359576.5_Missense_Mutation_p.E903K|CLASP2_ENST00000539981.1_Missense_Mutation_p.E681K|CLASP2_ENST00000461133.3_Missense_Mutation_p.E670K|CLASP2_ENST00000307312.7_Missense_Mutation_p.E392K|CLASP2_ENST00000468888.2_Missense_Mutation_p.E912K	NM_015097.2	NP_055912.2	B2RTR1	B2RTR1_HUMAN	cytoplasmic linker associated protein 2	912										breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						CTTTTCAGTTCAACTCGACTG	0.284000													4	6					0	0	1	0	0
RSRC2	65117	broad.mit.edu	37	12	122990075	122990075	+	Silent	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr12:122990075C>T	ENST00000331738.7	-	10	1449	c.1304G>A	c.(1303-1305)tGa>tAa	p.*435*	RSRC2_ENST00000354654.2_Silent_p.*387*|RSRC2_ENST00000392442.2_5'UTR	NM_023012.5	NP_075388.2	Q7L4I2	RSRC2_HUMAN	arginine/serine-rich coiled-coil 2	0										breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|urinary_tract(2)	24	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)		TGATCATTTTCAAACTGCATC	0.413000													18	64					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39918000	39918000	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr1:39918000G>A	ENST00000564288.1	+	86	21368	c.20591G>A	c.(20590-20592)cGg>cAg	p.R6864Q	MACF1_ENST00000567887.1_Missense_Mutation_p.R6901Q|MACF1_ENST00000289893.4_Missense_Mutation_p.R5307Q|MACF1_ENST00000539005.1_Missense_Mutation_p.R4675Q|MACF1_ENST00000372915.3_Missense_Mutation_p.R6763Q|MACF1_ENST00000545844.1_Missense_Mutation_p.R4805Q|MACF1_ENST00000317713.7_Missense_Mutation_p.R4805Q|MACF1_ENST00000361689.2_Missense_Mutation_p.R4805Q			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6872					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AAACAAAGCCGGCTTGAGCAG	0.448000													12	48					0	0	1	0	0
PAK1	5058	broad.mit.edu	37	11	77054919	77054919	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr11:77054919C>T	ENST00000356341.3	-	10	1474	c.943G>A	c.(943-945)Gag>Aag	p.E315K	PAK1_ENST00000525542.1_5'UTR|PAK1_ENST00000528203.1_Missense_Mutation_p.E217K|PAK1_ENST00000278568.4_Missense_Mutation_p.E315K|PAK1_ENST00000530617.1_Missense_Mutation_p.E315K	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 1	315	Protein kinase.				apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway	cytosol|focal adhesion|Golgi apparatus	ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29	all_cancers(14;1.75e-18)					ACCAGGATCTCATTAATAATC	0.448000													25	103					0	0	1	0	0
GBA	2629	broad.mit.edu	37	1	155210881	155210881	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr1:155210881C>T	ENST00000327247.5	-	2	255	c.23G>A	c.(22-24)aGa>aAa	p.R8K	GBA_ENST00000368373.3_Missense_Mutation_p.R8K|GBA_ENST00000427500.3_Missense_Mutation_p.R8K|GBA_ENST00000493842.1_5'UTR|GBA_ENST00000428024.3_Intron|GBA_ENST00000536770.1_Missense_Mutation_p.R8K	NM_001005741.2|NM_001005742.2	NP_001005741.1|NP_001005742.1	P04062	GLCM_HUMAN	glucosidase, beta, acid	8					carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of interleukin-6 production|negative regulation of MAP kinase activity|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction	lysosomal lumen|lysosomal membrane	cation binding|glucosylceramidase activity|receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	26	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		Alglucerase(DB00088)|Imiglucerase(DB00053)	TCTTACCTCTCTGGAAGGACT	0.468000									Gaucher disease type I				7	33					0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129911795	129911795	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr10:129911795C>T	ENST00000368654.3	-	8	1927	c.1552G>A	c.(1552-1554)Gat>Aat	p.D518N	MKI67_ENST00000368653.3_Missense_Mutation_p.D158N	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	518					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				AAGTTTTCATCAAATAGTTCA	0.438000													40	49					0	0	1	0	0
ISL1	3670	broad.mit.edu	37	5	50685712	50685712	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr5:50685712G>C	ENST00000230658.7	+	4	1296	c.711G>C	c.(709-711)aaG>aaC	p.K237N	ISL1_ENST00000505475.2_3'UTR|ISL1_ENST00000511384.1_Missense_Mutation_p.K237N	NM_002202.2	NP_002193.2	P61371	ISL1_HUMAN	ISL LIM homeobox 1	237					generation of precursor metabolites and energy|multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		Lung NSC(810;0.000845)|Breast(144;0.0411)				GCAAGGACAAGAAGCGAAGCA	0.582000													7	14					0	0	1	0	0
C5orf42	65250	broad.mit.edu	37	5	37165751	37165751	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr5:37165751C>G	ENST00000274258.7	-	36	7650	c.4063G>C	c.(4063-4065)Gag>Cag	p.E1355Q	C5orf42_ENST00000425232.2_Missense_Mutation_p.E2475Q|C5orf42_ENST00000508244.1_Missense_Mutation_p.E2475Q			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	2475										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TCTTGCAGCTCTTTCTCAGCT	0.313000													6	32					0	0	1	0	0
ZNF131	7690	broad.mit.edu	37	5	43161417	43161417	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr5:43161417G>C	ENST00000509634.1	+	4	894	c.438G>C	c.(436-438)aaG>aaC	p.K146N	ZNF131_ENST00000505606.2_Missense_Mutation_p.K146N|ZNF131_ENST00000306938.4_Missense_Mutation_p.K146N|ZNF131_ENST00000509156.1_Missense_Mutation_p.K146N|ZNF131_ENST00000509931.1_Intron|ZNF131_ENST00000399534.1_Missense_Mutation_p.K146N			P52739	ZN131_HUMAN	zinc finger protein 131	146						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	17						AAAAAAGGAAGATTGCAGAAA	0.383000													13	37					0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48616933	48616933	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr3:48616933G>A	ENST00000328333.8	-	59	5358	c.5251C>T	c.(5251-5253)Cgg>Tgg	p.R1751W	COL7A1_ENST00000454817.1_Missense_Mutation_p.R1751W	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1751	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGGGGTCCCCGAAACCCTTCA	0.607000													3	19					0	0	1	0	0
SIX4	51804	broad.mit.edu	37	14	61190788	61190788	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr14:61190788G>C	ENST00000216513.4	-	1	64	c.5C>G	c.(4-6)tCc>tGc	p.S2C		NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN	SIX homeobox 4	2						nucleus				breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		GGAGGAAGAGGACATTTTTTG	0.557000													17	33					0	0	1	0	0
SUPT16H	11198	broad.mit.edu	37	14	21821946	21821946	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr14:21821946C>G	ENST00000216297.2	-	24	3174	c.2836G>C	c.(2836-2838)Gag>Cag	p.E946Q		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	946	Glu-rich (acidic).				DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		TTAAAAGTCTCATCTTCAATT	0.378000													23	70					0	0	1	0	0
RRM1	6240	broad.mit.edu	37	11	4142993	4142993	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr11:4142993C>G	ENST00000300738.5	+	10	1240	c.1036C>G	c.(1036-1038)Cag>Gag	p.Q346E	RRM1_ENST00000534285.1_Missense_Mutation_p.Q124E|RRM1_ENST00000528470.1_3'UTR|RRM1_ENST00000423050.2_Missense_Mutation_p.Q249E|RRM1_ENST00000537197.1_Missense_Mutation_p.Q8E	NM_001033.3	NP_001024.1	P23921	RIR1_HUMAN	ribonucleotide reductase M1	346					deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleoplasm|ribonucleoside-diphosphate reductase complex	ATP binding|ribonucleoside-diphosphate reductase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)	14		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)	GGAGACTAATCAGGTGAGAGA	0.403000													13	42					0	0	1	0	0
AC012363.13	0	broad.mit.edu	37	2	121080891	121080893	+	RNA	DEL	CCT	CCT	-	rs138298647	by1000genomes	TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr2:121080891_121080893delCCT	ENST00000437837.1	+	0	132																											CTGCCTCCCCCCTCCTCCTCCTC	0.542													2	4	---	---	---	---					
CHD1	1105	broad.mit.edu	37	5	98218870	98218872	+	In_Frame_Del	DEL	AAC	AAC	-			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr5:98218870_98218872delAAC	ENST00000284049.3	-	18	2787_2789	c.2638_2640delGTT	c.(2638-2640)gttdel	p.V880del		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	880	Helicase C-terminal.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	AATCAAATATAACAACAGTGTCA	0.355													9	24	---	---	---	---					
RBM12B	389677	broad.mit.edu	37	8	94747366	94747366	+	Frame_Shift_Del	DEL	G	G	-			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr8:94747366delG	ENST00000399300.2	-	3	1486	c.1273delC	c.(1273-1275)cttfs	p.L425fs	RBM12B_ENST00000517700.1_Frame_Shift_Del_p.L425fs|RBM12B_ENST00000520961.1_Intron	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	425	RRM 3.						nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			TCCTCAGCAAGAAGAAAGTCT	0.373													21	88	---	---	---	---					
DLG5	9231	broad.mit.edu	37	10	79613112	79613114	+	Splice_Site	DEL	CTG	CTG	-			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr10:79613112_79613114delCTG	ENST00000372391.2	-	5	867_869	c.862_864delCAG	c.(862-864)cagdel	p.Q288del	DLG5_ENST00000372388.2_Splice_Site_p.Q288del	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	288					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			ctgggCCTACCTGCTGCTGCTGG	0.576													2	4	---	---	---	---					
TROAP	10024	broad.mit.edu	37	12	49725148	49725149	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr12:49725148_49725149delCA	ENST00000551245.1	+	13	2631_2632	c.2520_2521delCA	c.(2518-2523)tgcaccfs	p.T841fs	TROAP_ENST00000257909.3_Frame_Shift_Del_p.T751fs|TROAP_ENST00000547923.1_Frame_Shift_Del_p.T430fs			Q12815	TROAP_HUMAN	trophinin associated protein	342					cell adhesion	cytoplasm				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						CCCGGGTCTGCACCAACCCTGT	0.619											OREG0021792	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	24	---	---	---	---					
EME2	197342	broad.mit.edu	37	16	1824298	1824300	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr16:1824298_1824300delTGC	ENST00000307394.7	+	3	422_424	c.422_424delTGC	c.(421-426)ttgctg>ttg	p.141_142LL>L	EME2_ENST00000568449.1_In_Frame_Del_p.141_142LL>L			A4GXA9	EME2_HUMAN	essential meiotic structure-specific endonuclease subunit 2	141					DNA recombination|DNA repair	nucleus	DNA binding|endonuclease activity			central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						GAACAGGAATTGCTGCTGCTGCT	0.655								Direct reversal of damage;Homologous recombination					8	74	---	---	---	---					
AMDHD2	51005	broad.mit.edu	37	16	2570482	2570483	+	Frame_Shift_Ins	INS	-	-	G			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr16:2570482_2570483insG	ENST00000302956.4	+	1	117_118	c.23_24insG	c.(22-27)gcggggfs	p.AG8fs	AMDHD2_ENST00000293971.6_Frame_Shift_Ins_p.AG8fs|ATP6C_ENST00000569317.1_Intron|AMDHD2_ENST00000413459.3_Frame_Shift_Ins_p.AG8fs			Q9Y303	NAGA_HUMAN	amidohydrolase domain containing 2	8					N-acetylglucosamine metabolic process		N-acetylglucosamine-6-phosphate deacetylase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)|skin(2)|urinary_tract(2)	19						CAGGGCGCGGCGGGGGCCCGCG	0.762													2	4	---	---	---	---					
FUK	197258	broad.mit.edu	37	16	70504888	70504888	+	Frame_Shift_Del	DEL	G	G	-			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr16:70504888delG	ENST00000288078.6	+	12	1315	c.1083delG	c.(1081-1083)ctgfs	p.L361fs	FUK_ENST00000378912.2_Frame_Shift_Del_p.L393fs|FUK_ENST00000571514.1_5'UTR	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase	361						cytoplasm	ATP binding|fucokinase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				AGCAGCTTCTGGCGGCCGGGA	0.687													2	4	---	---	---	---					
JUNB	3726	broad.mit.edu	37	19	12902917	12902917	+	Frame_Shift_Del	DEL	A	A	-			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr19:12902917delA	ENST00000302754.4	+	1	608	c.332delA	c.(331-333)tacfs	p.Y111fs		NM_002229.2	NP_002220.1	P17275	JUNB_HUMAN	jun B proto-oncogene	111						chromatin|nucleus	protein dimerization activity|transcription coactivator activity|transcription corepressor activity			central_nervous_system(1)|cervix(1)|kidney(1)|lung(3)	6						CAGTACTTTTACCCCCGCGGG	0.672													2	4	---	---	---	---					
PREX1	57580	broad.mit.edu	37	20	47254286	47254286	+	Frame_Shift_Del	DEL	C	C	-			TCGA-XF-A9T8-01A-11D-A391-08	TCGA-XF-A9T8-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e3e375-d384-4f3b-864a-587165d27fbf	b9412329-1c4c-4ab1-8627-4f285ff25296	g.chr20:47254286delC	ENST00000396220.1	-	31	3931	c.3909delG	c.(3907-3909)gggfs	p.G1303fs	PREX1_ENST00000371941.3_Frame_Shift_Del_p.G1303fs			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	1303					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GCTGGTTCTTCCCATCTGGAA	0.642													2	4	---	---	---	---					
