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
PTPRB	5787	broad.mit.edu	37	12	70988422	70988422	+	Silent	SNP	C	C	T			TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chr12:70988422C>T	ENST00000334414.6	-	6	1385	c.1341G>A	c.(1339-1341)gtG>gtA	p.V447V	PTPRB_ENST00000551525.1_Silent_p.V446V|PTPRB_ENST00000550358.1_Silent_p.V447V|PTPRB_ENST00000261266.5_Silent_p.V229V|PTPRB_ENST00000451516.2_Silent_p.V229V|PTPRB_ENST00000550857.1_Silent_p.V229V|PTPRB_ENST00000538708.1_Silent_p.V229V|PTPRB_ENST00000538174.2_5'UTR	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	229	Fibronectin type-III 5.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GGTATCGTTCCACATTCCCAG	0.468000													11	35					0	0	1	0	0
CCDC14	64770	broad.mit.edu	37	3	123649967	123649967	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chr3:123649967C>T	ENST00000485727.1	-	8	5896	c.1304G>A	c.(1303-1305)cGa>cAa	p.R435Q	CCDC14_ENST00000433542.2_Missense_Mutation_p.R594Q|CCDC14_ENST00000310351.4_Missense_Mutation_p.R475Q|CCDC14_ENST00000488653.2_Missense_Mutation_p.R635Q|CCDC14_ENST00000489746.1_Missense_Mutation_p.R435Q|CCDC14_ENST00000483247.1_Intron			Q49A88	CCD14_HUMAN	coiled-coil domain containing 14	635						centrosome				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)	21		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)		TTCTCTTAGTCGAGTCACCTC	0.343000													4	35					0	0	1	0	0
FAM161B	145483	broad.mit.edu	37	14	74411422	74411422	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chr14:74411422C>T	ENST00000286544.3	-	3	928	c.730G>A	c.(730-732)Gag>Aag	p.E244K	FAM161B_ENST00000534936.1_Missense_Mutation_p.E181K	NM_152445.2	NP_689658.2			family with sequence similarity 161, member B											breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)	21						TTCCGGGCCTCGCGCAGCGTC	0.672000													5	25					0	0	1	0	0
PDS5A	23244	broad.mit.edu	37	4	39846337	39846337	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chr4:39846337C>T	ENST00000303538.8	-	30	4026	c.3487G>A	c.(3487-3489)Gag>Aag	p.E1163K		NM_001100399.1	NP_001093869.1	Q29RF7	PDS5A_HUMAN	PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)	1163					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						CTTCCAGTCTCAGTGCCAGTG	0.408000													7	40					0	0	1	0	0
ABCC11	85320	broad.mit.edu	37	16	48204027	48204027	+	Missense_Mutation	SNP	G	G	A	rs139771120		TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chr16:48204027G>A	ENST00000394747.1	-	27	4229	c.3880C>T	c.(3880-3882)Cgc>Tgc	p.R1294C	ABCC11_ENST00000394748.1_Missense_Mutation_p.R1294C|ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000353782.5_Intron|ABCC11_ENST00000356608.2_Missense_Mutation_p.R1294C	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	1294	ABC transporter 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				TTGGAGTTGCGAAGCACAGCC	0.582000													43	96					0	0	1	0	0
WDR64	128025	broad.mit.edu	37	1	241953931	241953931	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chr1:241953931G>A	ENST00000366552.2	+	24	3107	c.2900G>A	c.(2899-2901)cGc>cAc	p.R967H	WDR64_ENST00000437684.2_Missense_Mutation_p.R800H	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	967										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			CTTTTCAAACGCACACCTCCC	0.353000													4	158					0	0	1	0	0
PACSIN1	29993	broad.mit.edu	37	6	34497473	34497473	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chr6:34497473G>C	ENST00000538621.1	+	6	888	c.643G>C	c.(643-645)Gat>Cat	p.D215H	PACSIN1_ENST00000374043.2_Missense_Mutation_p.D173H|PACSIN1_ENST00000244458.2_Missense_Mutation_p.D215H	NM_001199583.2	NP_001186512.1	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in neurons 1	215					endocytosis		protein kinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						AGTGCTGGAAGATGTGGGCAA	0.557000													3	20					0	0	1	0	0
IGHMBP2	3508	broad.mit.edu	37	11	68707082	68707082	+	Silent	SNP	G	G	A			TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chr11:68707082G>A	ENST00000255078.3	+	15	2976	c.2865G>A	c.(2863-2865)ggG>ggA	p.G955G		NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	955					cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CCGGCAGCGGGACCAAGAACG	0.637000													3	8					0	0	1	0	0
UBA52	7311	broad.mit.edu	37	19	18684180	18684180	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chr19:18684180G>C	ENST00000442744.2	+	2	128	c.70G>C	c.(70-72)Gag>Cag	p.E24Q	UBA52_ENST00000595158.1_Missense_Mutation_p.E24Q|UBA52_ENST00000599595.1_Missense_Mutation_p.E24Q|UBA52_ENST00000597451.1_Missense_Mutation_p.E24Q|CRLF1_ENST00000594325.1_Intron|UBA52_ENST00000599551.1_Missense_Mutation_p.E24Q|UBA52_ENST00000596304.1_Missense_Mutation_p.E24Q|UBA52_ENST00000430157.2_Missense_Mutation_p.E24Q|UBA52_ENST00000595683.1_Missense_Mutation_p.E24Q|UBA52_ENST00000596273.1_Missense_Mutation_p.E24Q|UBA52_ENST00000598780.1_Missense_Mutation_p.E24Q	NM_001033930.1	NP_001029102.1	P62987	RL40_HUMAN	ubiquitin A-52 residue ribosomal protein fusion product 1	24	Ubiquitin-like.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endocrine pancreas development|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|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|translational elongation|translational termination|viral transcription	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane|ribosome	protein binding|structural constituent of ribosome			endometrium(1)|large_intestine(2)	3						TGACACCATTGAGAATGTCAA	0.557000													6	32					0	0	1	0	0
ABCC4	10257	broad.mit.edu	37	13	95899984	95899984	+	Missense_Mutation	SNP	A	A	C			TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chr13:95899984A>C	ENST00000376887.4	-	2	212	c.98T>G	c.(97-99)aTt>aGt	p.I33S	ABCC4_ENST00000536256.1_Missense_Mutation_p.I33S|ABCC4_ENST00000431522.1_Missense_Mutation_p.I33S|ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000412704.1_Missense_Mutation_p.I33S	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	33					platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	TTTATGGCCAATTTTAAACAA	0.443000													11	68					0	0	1	0	0
TMEM62	80021	broad.mit.edu	37	15	43473451	43473451	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chr15:43473451G>A	ENST00000260403.2	+	13	1838	c.1559G>A	c.(1558-1560)gGa>gAa	p.G520E	EPB42_ENST00000563128.1_Intron|TMEM62_ENST00000569369.1_3'UTR	NM_024956.3	NP_079232.3	Q0P6H9	TMM62_HUMAN	transmembrane protein 62	520						integral to membrane				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;4.23e-07)		TTTGTTAATGGACATTTCCTA	0.363000													35	117					0	0	1	0	0
PPWD1	23398	broad.mit.edu	37	5	64875361	64875361	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chr5:64875361C>G	ENST00000261308.5	+	7	1343	c.1271C>G	c.(1270-1272)tCt>tGt	p.S424C	PPWD1_ENST00000535264.1_Missense_Mutation_p.S394C|PPWD1_ENST00000538977.1_Missense_Mutation_p.S268C	NM_015342.3	NP_056157.1	Q96BP3	PPWD1_HUMAN	peptidylprolyl isomerase domain and WD repeat containing 1	424					protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	19		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00451)		ATGAAAGCTTCTGAAAATCCT	0.348000													8	42					0	0	1	0	0
ST8SIA5	29906	broad.mit.edu	37	18	44336412	44336412	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chr18:44336412G>T	ENST00000315087.7	-	1	720	c.60C>A	c.(58-60)ttC>ttA	p.F20L	ST8SIA5_ENST00000536490.1_Missense_Mutation_p.F20L|ST8SIA5_ENST00000538168.1_Missense_Mutation_p.F20L	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	20					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane				kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						AGATGAAGATGAAGAGCAAAG	0.607000													5	34					0.000602214	0.000619178	1	1	0
RB1CC1	9821	broad.mit.edu	37	8	53568587	53568587	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chr8:53568587C>G	ENST00000025008.5	-	15	4325	c.3802G>C	c.(3802-3804)Gag>Cag	p.E1268Q	RB1CC1_ENST00000539297.1_Missense_Mutation_p.E1268Q|RB1CC1_ENST00000435644.2_Missense_Mutation_p.E1268Q|RB1CC1_ENST00000521611.1_Intron	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	1268					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				ATTTGATTCTCAAGATGTTTA	0.279000													7	36					0	0	1	0	0
LOC645752	645752	broad.mit.edu	37	15	78217385	78217385	+	RNA	SNP	G	G	A			TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chr15:78217385G>A	ENST00000567226.1	-	0	117																											TTCCTTTGCTGATATTCTTTT	0.448000													61	75					0	0	1	0	0
PRKCQ	5588	broad.mit.edu	37	10	6539060	6539060	+	Silent	SNP	C	C	T			TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chr10:6539060C>T	ENST00000263125.5	-	7	696	c.597G>A	c.(595-597)aaG>aaA	p.K199K	PRKCQ_ENST00000539722.1_Silent_p.K74K|PRKCQ_ENST00000397176.2_Silent_p.K199K	NM_001282644.1|NM_006257.3	NP_001269573.1|NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	199					axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						CAATACACTTCTTGTGAATTG	0.348000													21	116					0	0	1	0	0
TBC1D9	23158	broad.mit.edu	37	4	141598232	141598232	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chr4:141598232C>T	ENST00000442267.2	-	6	949	c.875G>A	c.(874-876)aGt>aAt	p.S292N		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	292						intracellular	calcium ion binding|Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				GTATCTCTCACTCTTTGCCCT	0.418000													19	76					0	0	1	0	0
MAP7	9053	broad.mit.edu	37	6	136699007	136699007	+	Splice_Site	SNP	C	C	T			TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chr6:136699007C>T	ENST00000354570.3	-	7	1048		c.e7-1		MAP7_ENST00000454590.1_Splice_Site|MAP7_ENST00000438100.2_Splice_Site|MAP7_ENST00000432797.2_Splice_Site|MAP7_ENST00000544465.1_Splice_Site	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7						establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		AGGCGGCGAGCTAAACGTCAC	0.507000													11	18					0	0	1	0	0
CNOT1	23019	broad.mit.edu	37	16	58568241	58568241	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chr16:58568241C>T	ENST00000317147.5	-	40	6037	c.5705G>A	c.(5704-5706)tGt>tAt	p.C1902Y	CNOT1_ENST00000569240.1_Missense_Mutation_p.C1897Y|CNOT1_ENST00000245138.4_Missense_Mutation_p.C753Y	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1902					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CATTTCAGTACACAGACGAAA	0.448000													14	29					0	0	1	0	0
CASS4	57091	broad.mit.edu	37	20	55026997	55026997	+	Silent	SNP	C	C	G			TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chr20:55026997C>G	ENST00000371336.3	+	5	966	c.765C>G	c.(763-765)gtC>gtG	p.V255V	CASS4_ENST00000434344.1_Intron|CASS4_ENST00000360314.3_Silent_p.V255V	NM_001164114.1|NM_020356.3	NP_001157586.1|NP_065089.2	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	255					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						AGGCCAGCGTCAGAAACACGC	0.512000													11	30					0	0	1	0	0
CDC14B	8555	broad.mit.edu	37	9	99285914	99285914	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chr9:99285914C>T	ENST00000375241.1	-	10	1491	c.1040G>A	c.(1039-1041)tGc>tAc	p.C347Y	CDC14B_ENST00000375236.1_Missense_Mutation_p.C347Y|CDC14B_ENST00000375240.3_Missense_Mutation_p.C347Y|CDC14B_ENST00000463569.1_Missense_Mutation_p.C347Y|CDC14B_ENST00000265659.2_Missense_Mutation_p.C347Y|CDC14B_ENST00000375242.3_Missense_Mutation_p.C310Y	NM_003671.3|NM_033331.2	NP_003662.1|NP_201588.1	O60729	CC14B_HUMAN	cell division cycle 14B	347	B.				activation of anaphase-promoting complex activity|DNA repair|G2/M transition DNA damage checkpoint	nucleolus|nucleoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	15		Acute lymphoblastic leukemia(62;0.0559)				GCCAGGTCTGCAGATCCTGAC	0.537000													3	40					0	0	1	0	0
MYO6	4646	broad.mit.edu	37	6	76550944	76550944	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chr6:76550944G>T	ENST00000369981.3	+	9	944	c.665G>T	c.(664-666)gGa>gTa	p.G222V	MYO6_ENST00000369977.3_Missense_Mutation_p.G222V|MYO6_ENST00000369985.4_Missense_Mutation_p.G222V|MYO6_ENST00000369975.1_Missense_Mutation_p.G222V			Q9UM54	MYO6_HUMAN	myosin VI	222	Myosin head-like.				actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		TCAGTTGTTGGAGGATTTGTT	0.294000													3	38					0.115264	0.115264	1	1	0
FAR2	55711	broad.mit.edu	37	12	29474782	29474782	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chr12:29474782C>A	ENST00000536681.3	+	10	1428	c.1182C>A	c.(1180-1182)ttC>ttA	p.F394L	FAR2_ENST00000182377.4_Missense_Mutation_p.F394L|FAR2_ENST00000547116.1_Missense_Mutation_p.F297L	NM_001271783.1|NM_001271784.1	NP_001258712.1|NP_001258713.1	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2						ether lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor			central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						TGGAGTATTTCATCAACCGGA	0.443000													14	62					1.3612e-06	1.41954e-06	1	1	0
UHRF1BP1	54887	broad.mit.edu	37	6	34827250	34827250	+	Silent	SNP	C	C	T			TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chr6:34827250C>T	ENST00000192788.5	+	14	3288	c.3117C>T	c.(3115-3117)ctC>ctT	p.L1039L	UHRF1BP1_ENST00000452449.2_Silent_p.L1039L	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	1039										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						CCATGGACCTCACCAAGGAAG	0.522000													10	56					0	0	1	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													3	36					0	0	1	0	0
SLC9A7	84679	broad.mit.edu	37	X	46508179	46508179	+	Silent	SNP	G	G	A			TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chrX:46508179G>A	ENST00000328306.4	-	11	1426	c.1401C>T	c.(1399-1401)ctC>ctT	p.L467L		NM_001257291.1|NM_032591.2	NP_001244220.1|NP_115980.1	Q96T83	SL9A7_HUMAN	solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7	467					regulation of pH	Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network	potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	21						TGCCCAAGTTGAGGAAGAAGG	0.458000													4	14					0	0	1	0	0
TUBG1	7283	broad.mit.edu	37	17	40767058	40767058	+	Silent	SNP	G	G	A			TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chr17:40767058G>A	ENST00000251413.3	+	11	1417	c.1355G>A	c.(1354-1356)tGa>tAa	p.*452*		NM_001070.4	NP_001061.2	P23258	TBG1_HUMAN	tubulin, gamma 1	0					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)		CAGGAGCAGTGAGTCCCCCAG	0.602000													8	39					0	0	1	0	0
ARSF	416	broad.mit.edu	37	X	3002515	3002515	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chrX:3002515C>G	ENST00000381127.1	+	6	859	c.638C>G	c.(637-639)tCt>tGt	p.S213C	ARSF_ENST00000537104.1_Missense_Mutation_p.S213C|ARSF_ENST00000359361.2_Missense_Mutation_p.S213C	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	213						extracellular region	arylsulfatase activity|metal ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGCTGGGTCTCTGTTCCCTGG	0.522000													11	23					0	0	1	0	0
CYB561D1	284613	broad.mit.edu	37	1	110038700	110038700	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chr1:110038700G>C	ENST00000420578.2	+	3	549	c.509G>C	c.(508-510)gGa>gCa	p.G170A	CYB561D1_ENST00000533024.1_3'UTR|CYB561D1_ENST00000393709.3_Missense_Mutation_p.G113A|CYB561D1_ENST00000527072.1_3'UTR|CYB561D1_ENST00000430195.2_3'UTR|CYB561D1_ENST00000369868.3_Missense_Mutation_p.G192A|CYB561D1_ENST00000310611.4_3'UTR|CYB561D1_ENST00000496961.1_3'UTR|CYB561D1_ENST00000528785.1_Missense_Mutation_p.G170A			Q8N8Q1	C56D1_HUMAN	cytochrome b561 family, member D1	170	Cytochrome b561.				electron transport chain|transport	integral to membrane	metal ion binding			breast(1)|large_intestine(3)|prostate(1)	5		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0422)|Epithelial(280;0.0655)|all cancers(265;0.0685)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)		CTGACATGTGGACTGGTGGTC	0.597000													17	75					0	0	1	0	0
SIGLEC16	400709	broad.mit.edu	37	19	50473221	50473221	+	RNA	SNP	T	T	C	rs117072442	by1000genomes	TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chr19:50473221T>C	ENST00000602139.1	+	0	222									sialic acid binding Ig-like lectin 16 (gene/pseudogene)									p.W65R(3)		endometrium(2)|kidney(2)|lung(6)	10						GTTCAAAGGATGGACCAGCCC	0.602000													3	17					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29628278	29628278	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chr20:29628278G>A	ENST00000278882.3	+	6	660	c.280G>A	c.(280-282)Gca>Aca	p.A94T	FRG1B_ENST00000358464.4_Missense_Mutation_p.A94T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A99T																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGCAATGAAGCAGGGGACAT	0.373000													4	104					0	0	1	0	0
CRYL1	51084	broad.mit.edu	37	13	20987468	20987468	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chr13:20987468C>T	ENST00000382812.1	-	7	854	c.626G>A	c.(625-627)cGg>cAg	p.R209Q	CRYL1_ENST00000298248.7_Missense_Mutation_p.R231Q			Q9Y2S2	CRYL1_HUMAN	crystallin, lambda 1	231					fatty acid metabolic process	cytosol	3-hydroxyacyl-CoA dehydrogenase activity|L-gulonate 3-dehydrogenase activity|NAD+ binding|protein homodimerization activity			NS(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(29;2.27e-23)|all_epithelial(30;1.69e-19)|all_lung(29;8.29e-18)|Lung SC(185;0.0262)|Ovarian(182;0.0827)|Hepatocellular(188;0.244)		all cancers(112;6.6e-05)|Epithelial(112;0.00178)|OV - Ovarian serous cystadenocarcinoma(117;0.0169)|Lung(94;0.0215)|GBM - Glioblastoma multiforme(144;0.0402)|LUSC - Lung squamous cell carcinoma(192;0.061)		GAATGCATACCGCATGCCCAA	0.478000													8	29					0	0	1	0	0
CTBP2	1488	broad.mit.edu	37	10	126682516	126682516	+	Silent	SNP	G	G	A			TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chr10:126682516G>A	ENST00000309035.6	-	6	2569	c.2439C>T	c.(2437-2439)ggC>ggT	p.G813G	CTBP2_ENST00000494626.2_Silent_p.G273G|CTBP2_ENST00000334808.6_Silent_p.G341G|CTBP2_ENST00000411419.2_Silent_p.G273G|CTBP2_ENST00000531469.1_Silent_p.G273G|CTBP2_ENST00000337195.5_Silent_p.G273G	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN	C-terminal binding protein 2	273					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		CCACCAGGCCGCCACGGGCTG	0.582000													4	108					0	0	1	0	0
JAKMIP1	152789	broad.mit.edu	37	4	6066679	6066679	+	Silent	SNP	C	C	T			TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chr4:6066679C>T	ENST00000409021.3	-	9	1808	c.1359G>A	c.(1357-1359)acG>acA	p.T453T	JAKMIP1_ENST00000457227.2_5'UTR|JAKMIP1_ENST00000409831.1_Silent_p.T453T|JAKMIP1_ENST00000409371.3_Silent_p.T268T|JAKMIP1_ENST00000410077.2_Silent_p.T288T|JAKMIP1_ENST00000282924.5_Silent_p.T453T	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	453	Mediates interaction with TYK2 and GABBR1.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TTTCGGACAACGTTTCTGAGT	0.483000													12	86					0	0	1	0	0
CDC27	996	broad.mit.edu	37	17	45258931	45258931	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chr17:45258931C>T	ENST00000066544.3	-	2	193	c.100G>A	c.(100-102)Gaa>Aaa	p.E34K	CDC27_ENST00000446365.2_Missense_Mutation_p.R22K|CDC27_ENST00000527547.1_Missense_Mutation_p.E34K|CDC27_ENST00000528748.1_5'UTR|CDC27_ENST00000531206.1_Missense_Mutation_p.E34K	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	34					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TTCAAACCTTCTGCATAAAGG	0.353000													7	35					0	0	1	0	0
FAM214A	56204	broad.mit.edu	37	15	52876944	52876944	+	Silent	SNP	C	C	T			TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chr15:52876944C>T	ENST00000261844.7	-	12	3227	c.3075G>A	c.(3073-3075)ctG>ctA	p.L1025L	RP11-23N2.4_ENST00000562062.1_RNA|FAM214A_ENST00000546305.2_Silent_p.L1032L	NM_019600.2	NP_062546.2	Q32MH5	K1370_HUMAN	family with sequence similarity 214, member A	1025																	AGCATTACCTCAGATGTATGA	0.323000													8	32					0	0	1	0	0
ELAVL3	1995	broad.mit.edu	37	19	11569393	11569393	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chr19:11569393G>A	ENST00000359227.3	-	4	791	c.367C>T	c.(367-369)Cgg>Tgg	p.R123W	ELAVL3_ENST00000438662.2_Missense_Mutation_p.R123W	NM_001420.3|NM_032281.2	NP_001411.2|NP_115657.2	Q14576	ELAV3_HUMAN	ELAV like neuron-specific RNA binding protein 3	123					cell differentiation|nervous system development		AU-rich element binding|nucleotide binding			breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						TTAGCATCCCGGATGGATGCT	0.587000													14	50					0	0	1	0	0
LHX9	56956	broad.mit.edu	37	1	197898235	197898235	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chr1:197898235C>T	ENST00000367390.3	+	6	1040	c.1013C>T	c.(1012-1014)tCa>tTa	p.S338L	LHX9_ENST00000561173.1_Intron|LHX9_ENST00000367391.1_Intron|LHX9_ENST00000337020.2_Intron|LHX9_ENST00000367387.4_Missense_Mutation_p.S347L	NM_001014434.1	NP_001014434.1	Q9NQ69	LHX9_HUMAN	LIM homeobox 9	347					motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						GCCCCGCCCTCAGCAGACAGC	0.557000													10	59					0	0	1	0	0
YY2	404281	broad.mit.edu	37	X	21874979	21874979	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chrX:21874979C>T	ENST00000429584.2	+	1	875	c.377C>T	c.(376-378)tCg>tTg	p.S126L	MBTPS2_ENST00000365779.2_Intron|MBTPS2_ENST00000465888.1_3'UTR|MBTPS2_ENST00000379484.5_Intron	NM_206923.3	NP_996806.2	O15391	TYY2_HUMAN	YY2 transcription factor	126					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|plasma membrane	DNA binding|zinc ion binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	19						CTGTCGGCCTCGGCGGCATCA	0.597000													6	13					0	0	1	0	0
RGS4	5999	broad.mit.edu	37	1	163043313	163043313	+	Silent	SNP	C	C	T			TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chr1:163043313C>T	ENST00000421743.2	+	5	730	c.570C>T	c.(568-570)atC>atT	p.I190I	RGS4_ENST00000367908.4_Intron|RGS4_ENST00000527809.1_Silent_p.I75I|RGS4_ENST00000367909.6_Silent_p.I93I|RGS4_ENST00000531057.1_Silent_p.I93I|RGS4_ENST00000491263.1_3'UTR|RGS4_ENST00000367906.3_Silent_p.I75I	NM_001102445.2|NM_001113380.1	NP_001095915.1|NP_001106851.1	P49798	RGS4_HUMAN	regulator of G-protein signaling 4	93					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)	21						ACTTCTGGATCAGCTGTGAAG	0.408000													11	55					0	0	1	0	0
ADSS	159	broad.mit.edu	37	1	244586160	244586160	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chr1:244586160C>T	ENST00000366535.3	-	7	956	c.640G>A	c.(640-642)Gaa>Aaa	p.E214K	ADSS_ENST00000462358.1_5'UTR	NM_001126.3	NP_001117.2	P30520	PURA2_HUMAN	adenylosuccinate synthase	214					AMP biosynthetic process|immune system process|purine base metabolic process	cytosol|plasma membrane	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)	all_cancers(173;0.0896)|all_epithelial(177;0.172)	all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014)		L-Aspartic Acid(DB00128)	AATTCACCTTCAATGTCTATT	0.328000													7	33					0	0	1	0	0
TRMT10B	158234	broad.mit.edu	37	9	37762013	37762013	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chr9:37762013G>A	ENST00000297994.3	+	2	150	c.85G>A	c.(85-87)Gaa>Aaa	p.E29K	RP11-613M10.9_ENST00000540557.1_Intron|TRMT10B_ENST00000377753.2_Missense_Mutation_p.E29K|TRMT10B_ENST00000537911.1_Missense_Mutation_p.E29K|TRMT10B_ENST00000377754.2_5'UTR	NM_144964.2	NP_659401.2			tRNA methyltransferase 10 homolog B (S. cerevisiae)																		GGAGACAGGTGAAGATGGACT	0.552000													4	15					0	0	1	0	0
TBL2	26608	broad.mit.edu	37	7	72988743	72988743	+	Silent	SNP	G	G	A			TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chr7:72988743G>A	ENST00000305632.5	-	2	472	c.231C>T	c.(229-231)ttC>ttT	p.F77F	TBL2_ENST00000452475.1_Silent_p.F77F|TBL2_ENST00000432538.1_Silent_p.F41F|TBL2_ENST00000459913.1_5'UTR	NM_012453.2	NP_036585.1	Q9Y4P3	TBL2_HUMAN	transducin (beta)-like 2	77										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	19		Lung NSC(55;0.0659)|all_lung(88;0.152)				GGCGGTGGGTGAAGTTGTGTT	0.532000													29	76					0	0	1	0	0
PPP1R16A	84988	broad.mit.edu	37	8	145724197	145724197	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chr8:145724197G>A	ENST00000292539.4	+	3	1221	c.304G>A	c.(304-306)Gag>Aag	p.E102K	PPP1R16A_ENST00000435887.1_Missense_Mutation_p.E102K|CTD-2517M22.14_ENST00000532766.1_RNA|CTD-2517M14.5_ENST00000569326.1_RNA			Q96I34	PP16A_HUMAN	protein phosphatase 1, regulatory subunit 16A	102						plasma membrane	protein binding			NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-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;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CTTGGCCAACGAGGACGGCCT	0.667000													10	23					0	0	1	0	0
KIF26B	55083	broad.mit.edu	37	1	245850477	245850477	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chr1:245850477G>T	ENST00000366518.4	+	9	3153	c.3049G>T	c.(3049-3051)Gcc>Tcc	p.A1017S	KIF26B_ENST00000407071.2_Missense_Mutation_p.A1398S			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1398					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CCCCTGCATTGCCATGAGCCC	0.592000													6	21					0.00307968	0.00312245	1	1	0
NUMA1	4926	broad.mit.edu	37	11	71727567	71727567	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chr11:71727567C>T	ENST00000393695.3	-	14	1460	c.1129G>A	c.(1129-1131)Gaa>Aaa	p.E377K	NUMA1_ENST00000358965.6_Missense_Mutation_p.E377K|NUMA1_ENST00000351960.6_Missense_Mutation_p.E377K|RP11-849H4.4_ENST00000502284.1_RNA	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	377					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						TTCTTCTCTTCAAGGCATTTC	0.517000			T	RARA	APL								5	49					0	0	1	0	0
ENKD1	84080	broad.mit.edu	37	16	67700166	67700166	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chr16:67700166G>C	ENST00000243878.4	-	2	409	c.88C>G	c.(88-90)Caa>Gaa	p.Q30E	ENKD1_ENST00000602644.1_Missense_Mutation_p.Q30E	NM_032140.1	NP_115516.1			enkurin domain containing 1																		AGGCGCCCTTGAGCTGTGGGG	0.731000													8	15					0	0	1	0	0
UHRF2	115426	broad.mit.edu	37	9	6481669	6481669	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chr9:6481669C>T	ENST00000276893.5	+	7	1355	c.1187C>T	c.(1186-1188)tCc>tTc	p.S396F		NM_152896.2	NP_690856.1	Q96PU4	UHRF2_HUMAN	ubiquitin-like with PHD and ring finger domains 2, E3 ubiquitin protein ligase	396					cell cycle|cell differentiation|cell proliferation|protein autoubiquitination|regulation of cell cycle|ubiquitin-dependent protein catabolic process	nucleus	DNA binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)	17		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)		AAAACTGATTCCAGTGAAGTT	0.383000													12	39					0	0	1	0	0
CDK20	23552	broad.mit.edu	37	9	90585510	90585510	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chr9:90585510C>T	ENST00000325303.8	-	5	841	c.536G>A	c.(535-537)cGc>cAc	p.R179H	CDK20_ENST00000336654.5_Intron|CDK20_ENST00000375883.3_Intron|CDK20_ENST00000605159.1_Intron|CDK20_ENST00000375871.4_Intron	NM_001039803.2	NP_001034892.1	Q8IZL9	CDK20_HUMAN	cyclin-dependent kinase 20	179	Protein kinase.				cell division|multicellular organismal development	cilium|mitochondrion|nucleus	ATP binding|cyclin-dependent protein kinase activity			skin(1)	1						GTCATACTGGCGGGCACCATA	0.617000													3	15					0	0	1	0	0
PLEKHA7	144100	broad.mit.edu	37	11	16810698	16810698	+	Missense_Mutation	SNP	G	G	A	rs141880623		TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chr11:16810698G>A	ENST00000355661.3	-	23	3312	c.3302C>T	c.(3301-3303)aCg>aTg	p.T1101M	PLEKHA7_ENST00000332954.4_5'UTR|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.T1102M|PLEKHA7_ENST00000532079.1_3'UTR|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.T1101M			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	1101					epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						GGGCAGGCCCGTCCTCTCCCC	0.657000													9	28					0	0	1	0	0
CACNA1H	8912	broad.mit.edu	37	16	1270949	1270949	+	Silent	SNP	C	C	G			TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chr16:1270949C>G	ENST00000348261.5	+	35	7265	c.7017C>G	c.(7015-7017)ccC>ccG	p.P2339P	CACNA1H_ENST00000358590.4_Silent_p.P2333P|CACNA1H_ENST00000565831.1_Silent_p.P2333P	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	2339					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	CAGGGTCCCCCTCAGCCACCC	0.697000													13	24					0	0	1	0	0
EIF3D	8664	broad.mit.edu	37	22	36922179	36922179	+	Splice_Site	SNP	C	C	G			TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chr22:36922179C>G	ENST00000216190.8	-	2	361		c.e2-1		EIF3D_ENST00000405442.1_Splice_Site|EIF3D_ENST00000541106.1_Splice_Site	NM_003753.3	NP_003744.1	O15371	EIF3D_HUMAN	eukaryotic translation initiation factor 3, subunit D							cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			cervix(1)|endometrium(2)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	15						CTTCCAAAATCTGAAAAATAT	0.468000													5	40					0	0	1	0	0
NALCN	259232	broad.mit.edu	37	13	101714454	101714454	+	Missense_Mutation	SNP	A	A	C			TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chr13:101714454A>C	ENST00000251127.6	-	41	4702	c.4621T>G	c.(4621-4623)Tcc>Gcc	p.S1541A		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1541						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					ATGTCCACGGACCGGTATGAA	0.542000													12	22					0	0	1	0	0
MLPH	79083	broad.mit.edu	37	2	238434266	238434266	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chr2:238434266C>T	ENST00000264605.3	+	7	992	c.698C>T	c.(697-699)tCa>tTa	p.S233L	MLPH_ENST00000409373.1_Missense_Mutation_p.S193L|MLPH_ENST00000338530.4_Missense_Mutation_p.S233L|MLPH_ENST00000468178.1_3'UTR|MLPH_ENST00000445024.2_Missense_Mutation_p.S233L|MLPH_ENST00000410032.1_Intron	NM_024101.5	NP_077006.1	Q9BV36	MELPH_HUMAN	melanophilin	233							metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)		GAGTCCTGCTCAGAGAAGGCA	0.607000													3	34					0	0	1	0	0
FAM193A	8603	broad.mit.edu	37	4	2698141	2698141	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chr4:2698141C>T	ENST00000324666.5	+	16	2806	c.2455C>T	c.(2455-2457)Cgc>Tgc	p.R819C	FAM193A_ENST00000502458.1_Missense_Mutation_p.R841C|FAM193A_ENST00000382839.3_Missense_Mutation_p.R819C|FAM193A_ENST00000505311.1_Missense_Mutation_p.R819C|FAM193A_ENST00000545951.1_Missense_Mutation_p.R819C	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	819										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						GGAAAAGCTTCGCTTACGGCT	0.408000													17	66					0	0	1	0	0
SLC12A5	57468	broad.mit.edu	37	20	44680355	44680355	+	Silent	SNP	C	C	T			TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chr20:44680355C>T	ENST00000243964.3	+	18	2321	c.2223C>T	c.(2221-2223)ttC>ttT	p.F741F	SLC12A5_ENST00000454036.2_Silent_p.F764F	NM_020708.4	NP_065759.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	764					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	TGAAGGGCTTCTGCCAGGTGG	0.632000													13	71					0	0	1	0	0
NSF	4905	broad.mit.edu	37	17	44828881	44828881	+	Missense_Mutation	SNP	T	T	G			TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chr17:44828881T>G	ENST00000398238.4	+	19	2163	c.2056T>G	c.(2056-2058)Ttc>Gtc	p.F686V	NSF_ENST00000575068.1_Missense_Mutation_p.F681V|NSF_ENST00000225282.8_Missense_Mutation_p.F592V	NM_006178.3	NP_006169.2	P46459	NSF_HUMAN	N-ethylmaleimide-sensitive factor	686				F -> L (in Ref. 1; AAA17411, 2; AAF70545 and 3; AAF04745).	protein transport|synaptic transmission	cytosol	ATP binding|metal ion binding			kidney(2)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	14		Melanoma(429;0.203)	BRCA - Breast invasive adenocarcinoma(9;0.0257)	BRCA - Breast invasive adenocarcinoma(366;0.241)		TTTGGGCAACTTCAAGGATAA	0.368000													9	30					0	0	1	0	0
CELSR2	1952	broad.mit.edu	37	1	109793864	109793864	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chr1:109793864C>T	ENST00000271332.3	+	1	1224	c.1163C>T	c.(1162-1164)tCt>tTt	p.S388F		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	388	Cadherin 2.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GTTTTCCTTTCTGTGGAGGAT	0.582000													9	60					0	0	1	0	0
TECTA	7007	broad.mit.edu	37	11	120998580	120998580	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chr11:120998580G>A	ENST00000392793.1	+	9	2165	c.1894G>A	c.(1894-1896)Gag>Aag	p.E632K	TECTA_ENST00000264037.2_Missense_Mutation_p.E632K			O75443	TECTA_HUMAN	tectorin alpha	632	TIL 1.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		AGAGGGCTGCGAGTGCAACCA	0.642000													9	45					0	0	1	0	0
OTUD7A	161725	broad.mit.edu	37	15	31851254	31851254	+	Silent	SNP	C	C	T			TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chr15:31851254C>T	ENST00000382902.1	-	3	560	c.468G>A	c.(466-468)ctG>ctA	p.L156L	OTUD7A_ENST00000307050.4_Silent_p.L156L			Q8TE49	OTU7A_HUMAN	OTU domain containing 7A	156						cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding			endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		TGTACACGCTCAGGTCTGGCA	0.582000													6	20					0	0	1	0	0
TMEM87A	25963	broad.mit.edu	37	15	42528584	42528584	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chr15:42528584G>A	ENST00000389834.4	-	10	1166	c.902C>T	c.(901-903)tCa>tTa	p.S301L	TMEM87A_ENST00000448392.1_Missense_Mutation_p.S240L	NM_015497.3	NP_056312.2	Q8NBN3	TM87A_HUMAN	transmembrane protein 87A	301						integral to membrane				breast(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24		all_cancers(109;4.28e-16)|all_epithelial(112;1.04e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;1.03e-06)		TTTCACTGCTGAAAGCAGCTC	0.453000													64	106					0	0	1	0	0
LILRA5	353514	broad.mit.edu	37	19	54822870	54822870	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chr19:54822870C>T	ENST00000301219.3	-	5	645	c.526G>A	c.(526-528)Gaa>Aaa	p.E176K	LILRA5_ENST00000346508.3_Missense_Mutation_p.E164K|LILRA5_ENST00000432233.3_Missense_Mutation_p.E176K|LILRA5_ENST00000446712.3_Missense_Mutation_p.E164K|AC008984.2_ENST00000507363.1_RNA	NM_021250.2	NP_067073.1	A6NI73	LIRA5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5	176	Ig-like C2-type 2.				innate immune response	extracellular region|integral to membrane	receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGGTCTCCTTCCTCAGTCAGA	0.617000													8	33					0	0	1	0	0
SDC2	6383	broad.mit.edu	37	8	97621773	97621773	+	Silent	SNP	G	G	A			TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chr8:97621773G>A	ENST00000302190.4	+	5	1524	c.603G>A	c.(601-603)gcG>gcA	p.A201A	SDC2_ENST00000518385.1_Silent_p.A165A|SDC2_ENST00000519914.1_Silent_p.A172A|SDC2_ENST00000522911.1_Silent_p.A172A	NM_002998.3	NP_002989.2	P34741	SDC2_HUMAN	syndecan 2	201						integral to plasma membrane	cytoskeletal protein binding|PDZ domain binding	p.A201A(1)		breast(1)|cervix(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|stomach(2)	16	Breast(36;3.41e-05)				Sargramostim(DB00020)	AGTTTTATGCGTAAAACTCCA	0.358000													17	43					0	0	1	0	0
HTT	3064	broad.mit.edu	37	4	3235030	3235030	+	Silent	SNP	C	C	G			TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chr4:3235030C>G	ENST00000355072.5	+	61	8551	c.8406C>G	c.(8404-8406)ctC>ctG	p.L2802L	HTT_ENST00000513806.1_Intron	NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	2802					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CCAAGCAGCTCATCCCGGTCA	0.642000													33	121					0	0	1	0	0
BRCA1	672	broad.mit.edu	37	17	41245878	41245878	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chr17:41245878G>T	ENST00000309486.4	-	9	1809	c.782C>A	c.(781-783)aCa>aAa	p.T261K	BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000471181.2_Missense_Mutation_p.T557K|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000493795.1_Missense_Mutation_p.T510K|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000346315.3_Missense_Mutation_p.T557K|BRCA1_ENST00000357654.3_Missense_Mutation_p.T557K|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000354071.3_Missense_Mutation_p.T557K	NM_007297.3	NP_009228.2	P38398	BRCA1_HUMAN	breast cancer 1, early onset	557					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		ATCACCTTTTGTTTTATTCTC	0.358000			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			20	93					1.28384e-07	1.35826e-07	1	1	0
FAM117B	150864	broad.mit.edu	37	2	203590972	203590972	+	Splice_Site	SNP	G	G	C			TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chr2:203590972G>C	ENST00000303116.6	+	4	856		c.e4-1		FAM117B_ENST00000392238.2_Splice_Site	NM_173511.3	NP_775782.2	Q6P1L5	F117B_HUMAN	family with sequence similarity 117, member B											breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)	17						TGCTTTCTCAGATTGCAAAAT	0.388000													11	61					0	0	1	0	0
PELI2	57161	broad.mit.edu	37	14	56763378	56763378	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chr14:56763378C>G	ENST00000267460.4	+	6	1043	c.757C>G	c.(757-759)Ctc>Gtc	p.L253V		NM_021255.2	NP_067078.1	Q9HAT8	PELI2_HUMAN	pellino E3 ubiquitin protein ligase family member 2	253					innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	protein binding			kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	22						TGGGGCCACTCTCCTCTGGAG	0.522000													8	34					0	0	1	0	0
NUMA1	4926	broad.mit.edu	37	11	71727229	71727229	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chr11:71727229C>G	ENST00000393695.3	-	15	1651	c.1320G>C	c.(1318-1320)gaG>gaC	p.E440D	NUMA1_ENST00000358965.6_Missense_Mutation_p.E440D|NUMA1_ENST00000351960.6_Intron|RP11-849H4.4_ENST00000502284.1_RNA	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	440					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						CTCGCTCAGTCTCCAGCATCT	0.542000			T	RARA	APL						OREG0021187	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	59					0	0	1	0	0
TLR3	7098	broad.mit.edu	37	4	187004578	187004578	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chr4:187004578G>T	ENST00000296795.3	+	4	1842	c.1738G>T	c.(1738-1740)Gag>Tag	p.E580*	TLR3_ENST00000504367.1_Nonsense_Mutation_p.E303*	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3						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)		GATCCCAGTTGAGGTCTTCAA	0.403000													14	70					4.36969e-10	4.65675e-10	1	1	0
CELSR2	1952	broad.mit.edu	37	1	109793732	109793732	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chr1:109793732C>T	ENST00000271332.3	+	1	1092	c.1031C>T	c.(1030-1032)cCt>cTt	p.P344L		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	344	Cadherin 2.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GAGATCGACCCTCGCTCTGGG	0.627000													10	44					0	0	1	0	0
ANKMY1	51281	broad.mit.edu	37	2	241420447	241420447	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chr2:241420447G>A	ENST00000391987.1	-	17	3052	c.2686C>T	c.(2686-2688)Cgc>Tgc	p.R896C	ANKMY1_ENST00000403283.1_Missense_Mutation_p.R798C|ANKMY1_ENST00000406958.1_Missense_Mutation_p.R657C|ANKMY1_ENST00000373318.2_Missense_Mutation_p.R675C|ANKMY1_ENST00000272972.3_Missense_Mutation_p.R896C|ANKMY1_ENST00000373320.4_Missense_Mutation_p.R666C|ANKMY1_ENST00000401804.1_Missense_Mutation_p.R985C|ANKMY1_ENST00000361678.4_Missense_Mutation_p.R672C	NM_001282771.1	NP_001269700.1	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	896							zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		CCGTAGCAGCGAGGGCAGGGC	0.617000													11	50					0	0	1	0	0
CLIP2	7461	broad.mit.edu	37	7	73753110	73753110	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chr7:73753110G>A	ENST00000223398.6	+	3	781	c.454G>A	c.(454-456)Gag>Aag	p.E152K	CLIP2_ENST00000395060.1_Missense_Mutation_p.E152K|CLIP2_ENST00000361545.5_Missense_Mutation_p.E152K	NM_003388.4	NP_003379	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	152						microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						GCCCACGGCCGAGGGCTCGGG	0.687000													5	12					0	0	1	0	0
TTLL7	79739	broad.mit.edu	37	1	84417612	84417612	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chr1:84417612G>C	ENST00000260505.8	-	3	450	c.73C>G	c.(73-75)Caa>Gaa	p.Q25E	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	25					cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		ATTGTGCTTTGATAAGGTAAT	0.338000													13	56					0	0	1	0	0
ASIC5	51802	broad.mit.edu	37	4	156751057	156751057	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chr4:156751057G>C	ENST00000537611.2	-	10	1515	c.1469C>G	c.(1468-1470)cCt>cGt	p.P490R		NM_017419.2	NP_059115.1	Q9NY37	ACCN5_HUMAN	acid-sensing (proton-gated) ion channel family member 5	490						integral to membrane|plasma membrane											CTGAGGTGGAGGAGTCCACTG	0.338000													13	63					0	0	1	0	0
C8orf34	116328	broad.mit.edu	37	8	69351787	69351787	+	Silent	SNP	C	C	T			TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chr8:69351787C>T	ENST00000337103.4	+	1	1640	c.48C>T	c.(46-48)ctC>ctT	p.L16L	C8orf34_ENST00000348340.2_Silent_p.L41L|C8orf34_ENST00000523686.1_Silent_p.L41L|C8orf34_ENST00000539993.1_Silent_p.L41L|C8orf34_ENST00000518698.1_Silent_p.L127L|C8orf34_ENST00000349492.3_3'UTR			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	41					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			TCCCATTTCTCATTGACCATC	0.388000													9	48					0	0	1	0	0
RPS6KL1	83694	broad.mit.edu	37	14	75376489	75376489	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chr14:75376489G>A	ENST00000555647.1	-	8	1314	c.1027C>T	c.(1027-1029)Cgg>Tgg	p.R343W	RPS6KL1_ENST00000557413.1_Missense_Mutation_p.R343W|RPS6KL1_ENST00000354625.2_Missense_Mutation_p.R312W|RPS6KL1_ENST00000358328.4_Missense_Mutation_p.R343W			Q9Y6S9	RPKL1_HUMAN	ribosomal protein S6 kinase-like 1	343	Protein kinase.					ribosome	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(234;0.00658)		GTGAGCCCCCGAGGGGGCCCA	0.697000													3	14					0	0	1	0	0
BSX	390259	broad.mit.edu	37	11	122848410	122848410	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chr11:122848410C>T	ENST00000343035.2	-	3	697	c.649G>A	c.(649-651)Gag>Aag	p.E217K		NM_001098169.1	NP_001091639.1	Q3C1V8	BSH_HUMAN	brain-specific homeobox	217										endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	10		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361)		ATGTCCACCTCGTCCTCTGGC	0.731000													9	19					0	0	1	0	0
KCNA5	3741	broad.mit.edu	37	12	5154624	5154624	+	Silent	SNP	C	C	T			TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chr12:5154624C>T	ENST00000252321.3	+	1	1540	c.1311C>T	c.(1309-1311)ctC>ctT	p.L437L		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	437						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						TGGGGCTGCTCATCTTCTTCC	0.592000													3	35					0	0	1	0	0
CARS2	79587	broad.mit.edu	37	13	111298408	111298408	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chr13:111298408G>A	ENST00000257347.4	-	12	1286	c.1223C>T	c.(1222-1224)gCg>gTg	p.A408V	CARS2_ENST00000535398.1_5'UTR	NM_024537.2	NP_078813.1	Q9HA77	SYCM_HUMAN	cysteinyl-tRNA synthetase 2, mitochondrial (putative)	408					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)	TGCCAAGGCCGCCTTCACGGC	0.622000													30	52					0	0	1	0	0
CELSR2	1952	broad.mit.edu	37	1	109793731	109793731	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chr1:109793731C>A	ENST00000271332.3	+	1	1091	c.1030C>A	c.(1030-1032)Cct>Act	p.P344T		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	344	Cadherin 2.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TGAGATCGACCCTCGCTCTGG	0.627000													10	43					7.48243e-07	7.85924e-07	1	1	0
KIF5B	3799	broad.mit.edu	37	10	32311928	32311928	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chr10:32311928T>C	ENST00000302418.4	-	16	2219	c.1762A>G	c.(1762-1764)Act>Gct	p.T588A		NM_004521.2	NP_004512.1	P33176	KINH_HUMAN	kinesin family member 5B	588					stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity		KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				CTTGCAACAGTGAACTCTTCA	0.358000			T	"""RET, ALK"""	NSCLC								11	33					0	0	1	0	0
ACTG1	71	broad.mit.edu	37	17	79477789	79477789	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chr17:79477789A>G	ENST00000575842.1	-	5	1481	c.1055T>C	c.(1054-1056)tTc>tCc	p.F352S	ACTG1_ENST00000331925.2_Missense_Mutation_p.F352S|ACTG1_ENST00000575087.1_Missense_Mutation_p.F352S|ACTG1_ENST00000573283.1_Missense_Mutation_p.F352S			P63261	ACTG_HUMAN	actin, gamma 1	352					adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			CATCTGCTGGAAGGTGGACAG	0.577000													23	115					0	0	1	0	0
CCDC14	64770	broad.mit.edu	37	3	123649972	123649972	+	Silent	SNP	C	C	T			TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chr3:123649972C>T	ENST00000485727.1	-	8	5891	c.1299G>A	c.(1297-1299)gtG>gtA	p.V433V	CCDC14_ENST00000433542.2_Silent_p.V592V|CCDC14_ENST00000310351.4_Silent_p.V473V|CCDC14_ENST00000488653.2_Silent_p.V633V|CCDC14_ENST00000489746.1_Silent_p.V433V|CCDC14_ENST00000483247.1_Intron			Q49A88	CCD14_HUMAN	coiled-coil domain containing 14	633						centrosome				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)	21		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)		TTAGTCGAGTCACCTCAGCAT	0.343000													4	35					0	0	1	0	0
C12orf50	160419	broad.mit.edu	37	12	88379780	88379780	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chr12:88379780T>C	ENST00000298699.2	-	11	1153	c.973A>G	c.(973-975)Aaa>Gaa	p.K325E	C12orf50_ENST00000550553.1_Missense_Mutation_p.K286E	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN	chromosome 12 open reading frame 50	325										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						TTTCGATTTTTATTATTGCGG	0.478000													23	94					0	0	1	0	0
THAP7-AS1	439931	broad.mit.edu	37	22	21363149	21363149	+	RNA	SNP	C	C	T			TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chr22:21363149C>T	ENST00000452284.1	+	0	816				THAP7-AS1_ENST00000436079.1_RNA|TUBA3FP_ENST00000422086.1_RNA	NR_027051.1																						TGACATCTTTCAGGACCACAT	0.547000													13	57					0	0	1	0	0
TLN2	83660	broad.mit.edu	37	15	63131165	63131165	+	Silent	SNP	G	G	A			TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chr15:63131165G>A	ENST00000561311.1	+	57	7715	c.7485G>A	c.(7483-7485)gtG>gtA	p.V2495V	TLN2_ENST00000306829.6_Silent_p.V2495V|RP11-1069G10.1_ENST00000558404.1_RNA			Q9Y4G6	TLN2_HUMAN	talin 2	2495	I/LWEQ.				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						CCAAGTTTGTGGGGGGCATTG	0.428000													27	149					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38951088	38951088	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chr19:38951088G>C	ENST00000355481.4	+	20	2565	c.2434G>C	c.(2434-2436)Gag>Cag	p.E812Q	RYR1_ENST00000359596.3_Missense_Mutation_p.E812Q|RYR1_ENST00000360985.3_Missense_Mutation_p.E812Q	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	812					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TCCATGCCATGAGGCTGTGCT	0.627000													20	69					0	0	1	0	0
ROBO2	6092	broad.mit.edu	37	3	77147369	77147369	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chr3:77147369C>G	ENST00000461745.1	+	2	1166	c.266C>G	c.(265-267)tCc>tGc	p.S89C	ROBO2_ENST00000332191.8_Missense_Mutation_p.S89C|ROBO2_ENST00000487694.3_Missense_Mutation_p.S105C	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	89	Ig-like C2-type 1.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CCCAGCGGATCCTTATTCTTC	0.562000													10	37					0	0	1	0	0
MICAL2	9645	broad.mit.edu	37	11	12280035	12280035	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chr11:12280035C>T	ENST00000256194.4	+	25	3451	c.3163C>T	c.(3163-3165)Cac>Tac	p.H1055Y	MICAL2_ENST00000379612.3_Missense_Mutation_p.H829Y|MICAL2_ENST00000342902.5_Missense_Mutation_p.H1034Y|MICAL2_ENST00000537344.1_Missense_Mutation_p.H865Y|MICAL2_ENST00000527546.1_Missense_Mutation_p.H865Y	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	1055	LIM zinc-binding.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		CTGCAAGCCTCACTTCATTCA	0.418000													14	41					0	0	1	0	0
BBS12	166379	broad.mit.edu	37	4	123663498	123663498	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chr4:123663498G>A	ENST00000542236.1	+	3	832	c.451G>A	c.(451-453)Gaa>Aaa	p.E151K	BBS12_ENST00000314218.3_Missense_Mutation_p.E151K	NM_001178007.1	NP_001171478.1	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	151					cellular protein metabolic process	cilium	ATP binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						TTCTCAACTTGAAACATTTAG	0.363000									Bardet-Biedl syndrome				21	82					0	0	1	0	0
FPGT	8790	broad.mit.edu	37	1	74670521	74670521	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chr1:74670521G>C	ENST00000609362.1	+	4	827	c.790G>C	c.(790-792)Gac>Cac	p.D264H	FPGT-TNNI3K_ENST00000557284.2_Intron|FPGT_ENST00000524915.1_Intron|FPGT-TNNI3K_ENST00000370899.3_Intron|FPGT_ENST00000370898.3_Missense_Mutation_p.D277H|FPGT_ENST00000370894.5_Intron|TNNI3K_ENST00000370891.2_Intron|FPGT-TNNI3K_ENST00000370893.1_Intron|FPGT-TNNI3K_ENST00000533006.1_Intron|FPGT_ENST00000534056.1_Intron|FPGT-TNNI3K_ENST00000370895.1_Intron	NM_003838.4	NP_003829.3			fucose-1-phosphate guanylyltransferase											breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	39						TCTTAAATTAGACTCTGACTA	0.373000													13	33					0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33337840	33337840	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chr20:33337840G>C	ENST00000374796.2	-	10	4728	c.2158C>G	c.(2158-2160)Caa>Gaa	p.Q720E	NCOA6_ENST00000359003.2_Missense_Mutation_p.Q720E			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	720	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						CCCTGCATTTGATTGGTCATA	0.512000													20	124					0	0	1	0	0
CDAN1	146059	broad.mit.edu	37	15	43023132	43023132	+	Silent	SNP	G	G	A			TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chr15:43023132G>A	ENST00000356231.3	-	13	2021	c.1998C>T	c.(1996-1998)ctC>ctT	p.L666L		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	666						integral to membrane	protein binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		CCTGGCTCCTGAGGGCCAGAA	0.592000													19	65					0	0	1	0	0
FOXP2	93986	broad.mit.edu	37	7	114270000	114270000	+	Silent	SNP	G	G	A			TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chr7:114270000G>A	ENST00000393500.3	+	11	1132	c.312G>A	c.(310-312)caG>caA	p.Q104Q	FOXP2_ENST00000393491.3_Silent_p.Q87Q|FOXP2_ENST00000360232.4_Silent_p.Q179Q|FOXP2_ENST00000350908.4_Silent_p.Q179Q|FOXP2_ENST00000393489.3_Silent_p.Q87Q|FOXP2_ENST00000390668.3_Silent_p.Q203Q|FOXP2_ENST00000403559.4_Silent_p.Q196Q|FOXP2_ENST00000408937.3_Silent_p.Q204Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000378237.3_Silent_p.Q179Q|FOXP2_ENST00000393494.2_Silent_p.Q179Q|FOXP2_ENST00000393498.2_Silent_p.Q159Q			O15409	FOXP2_HUMAN	forkhead box P2	179	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	p.Q204Q(1)		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						agcaacaacagcagcagcagc	0.498000													3	53					0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70988421	70988421	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chr12:70988421C>T	ENST00000334414.6	-	6	1386	c.1342G>A	c.(1342-1344)Gaa>Aaa	p.E448K	PTPRB_ENST00000551525.1_Missense_Mutation_p.E447K|PTPRB_ENST00000550358.1_Missense_Mutation_p.E448K|PTPRB_ENST00000261266.5_Missense_Mutation_p.E230K|PTPRB_ENST00000451516.2_Missense_Mutation_p.E230K|PTPRB_ENST00000550857.1_Missense_Mutation_p.E230K|PTPRB_ENST00000538708.1_Missense_Mutation_p.E230K|PTPRB_ENST00000538174.2_5'UTR	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	230	Fibronectin type-III 5.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CGGTATCGTTCCACATTCCCA	0.473000													11	35					0	0	1	0	0
GRK4	2868	broad.mit.edu	37	4	3039236	3039236	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chr4:3039236G>A	ENST00000398052.4	+	14	1886	c.1543G>A	c.(1543-1545)Gag>Aag	p.E515K	GRK4_ENST00000345167.6_Missense_Mutation_p.E483K|GRK4_ENST00000504933.1_Missense_Mutation_p.E515K|GRK4_ENST00000509545.1_3'UTR|GRK4_ENST00000398051.4_Missense_Mutation_p.E483K	NM_182982.2	NP_892027.2	P32298	GRK4_HUMAN	G protein-coupled receptor kinase 4	515	AGC-kinase C-terminal.					cell cortex	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			lung(1)|upper_aerodigestive_tract(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CTGGCAGAATGAGGTACTGCC	0.542000											OREG0016045	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	58					0	0	1	0	0
OR8B8	26493	broad.mit.edu	37	11	124310696	124310696	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chr11:124310696C>T	ENST00000328064.2	-	1	358	c.286G>A	c.(286-288)Ggg>Agg	p.G96R		NM_012378.1	NP_036510.1	Q15620	OR8B8_HUMAN	olfactory receptor, family 8, subfamily B, member 8	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		GTCATACACCCTGCGTAGGAG	0.438000													13	30					0	0	1	0	0
CNOT8	9337	broad.mit.edu	37	5	154244931	154244931	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chr5:154244931C>G	ENST00000517876.1	+	4	773	c.297C>G	c.(295-297)ttC>ttG	p.F99L	CNOT8_ENST00000520671.1_5'UTR|CNOT8_ENST00000521450.1_Intron|CNOT8_ENST00000285896.6_Missense_Mutation_p.F99L|CNOT8_ENST00000403027.2_Missense_Mutation_p.F99L|CNOT8_ENST00000523698.1_Intron|CNOT8_ENST00000521583.1_5'UTR|CNOT8_ENST00000519404.1_Missense_Mutation_p.F99L|CNOT8_ENST00000524105.1_5'UTR|CNOT8_ENST00000521402.1_3'UTR			Q9UFF9	CNOT8_HUMAN	CCR4-NOT transcription complex, subunit 8	99				FKFNLTE -> CKLYLTV (in Ref. 3; AAP97157).	negative regulation of cell proliferation|nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleus	nucleic acid binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	10	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AGTTCAATTTCAAATTTAACC	0.373000													9	44					0	0	1	0	0
VWA3A	146177	broad.mit.edu	37	16	22161217	22161217	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chr16:22161217G>C	ENST00000389397.4	+	30	3262	c.400G>C	c.(400-402)Gct>Cct	p.A134P	VWA3A_ENST00000563755.1_Missense_Mutation_p.A134P|VWA3A_ENST00000389398.5_Missense_Mutation_p.A1032P			A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	1032						extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		CCACCTGCAAGCTCAGGGCAG	0.557000													16	57					0	0	1	0	0
DTNB	1838	broad.mit.edu	37	2	25655804	25655804	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chr2:25655804C>G	ENST00000406818.3	-	14	1657	c.1408G>C	c.(1408-1410)Gag>Cag	p.E470Q	DTNB_ENST00000288642.8_Missense_Mutation_p.E470Q|DTNB_ENST00000496972.2_Missense_Mutation_p.E413Q|DTNB_ENST00000405222.1_Missense_Mutation_p.E440Q|DTNB_ENST00000545439.1_Missense_Mutation_p.E266Q|DTNB_ENST00000407186.1_Missense_Mutation_p.E440Q|DTNB_ENST00000407038.3_Missense_Mutation_p.E440Q|DTNB_ENST00000407661.3_Missense_Mutation_p.E470Q|DTNB_ENST00000404103.3_Missense_Mutation_p.E470Q	NM_001256303.1|NM_021907.4	NP_001243232.1|NP_068707.1	O60941	DTNB_HUMAN	dystrobrevin, beta	470						cytoplasm	calcium ion binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGTGCCTTCTCAGGGGTGGGC	0.587000													4	11					0	0	1	0	0
NAIP	4671	broad.mit.edu	37	5	70308224	70308224	+	Silent	SNP	G	G	C			TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chr5:70308224G>C	ENST00000517649.1	-	4	809	c.519C>G	c.(517-519)gtC>gtG	p.V173V	NAIP_ENST00000194097.4_Silent_p.V173V|NAIP_ENST00000503719.2_Intron|NAIP_ENST00000523981.1_Intron|NAIP_ENST00000508426.2_Silent_p.V173V	NM_004536.2	NP_004527.2	Q13075	BIRC1_HUMAN	NLR family, apoptosis inhibitory protein	173					anti-apoptosis|apoptosis|nervous system development	basolateral plasma membrane|cytoplasm	caspase inhibitor activity|metal ion binding|nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(1)	1		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		ATATCCCTTGGACATAAAATG	0.453000													10	39					0	0	1	0	0
IKBIP	121457	broad.mit.edu	37	12	99019846	99019846	+	Silent	SNP	A	A	G			TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chr12:99019846A>G	ENST00000299157.4	-	3	1369	c.996T>C	c.(994-996)aaT>aaC	p.N332N	IKBIP_ENST00000420861.1_Intron|IKBIP_ENST00000393042.3_Intron|IKBIP_ENST00000342502.2_Intron	NM_153687.3	NP_710154.1	Q70UQ0	IKIP_HUMAN	IKBKB interacting protein	327					induction of apoptosis|response to X-ray	endoplasmic reticulum membrane|integral to membrane	protein binding			NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						TTAATATGCTATTATCATACT	0.313000													8	46					0	0	1	0	0
GRM1	2911	broad.mit.edu	37	6	146350564	146350564	+	Translation_Start_Site	SNP	G	G	A			TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chr6:146350564G>A	ENST00000392299.2	+	0	381				GRM1_ENST00000282753.1_De_novo_Start_OutOfFrame|GRM1_ENST00000355289.4_De_novo_Start_OutOfFrame|GRM1_ENST00000361719.2_De_novo_Start_OutOfFrame|GRM1_ENST00000492807.2_De_novo_Start_OutOfFrame			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1						synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	GAGAGGCGGCGCTGGGCGTCT	0.701000													4	15					0	0	1	0	0
NUMA1	4926	broad.mit.edu	37	11	71726124	71726124	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chr11:71726124C>T	ENST00000393695.3	-	15	2756	c.2425G>A	c.(2425-2427)Gaa>Aaa	p.E809K	NUMA1_ENST00000358965.6_Missense_Mutation_p.E809K|NUMA1_ENST00000351960.6_Intron|RP11-849H4.4_ENST00000502284.1_RNA	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	809					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						GCAGCTACTTCTTTGACGAGC	0.587000			T	RARA	APL								11	67					0	0	1	0	0
SNX18	112574	broad.mit.edu	37	5	53814560	53814560	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chr5:53814560G>C	ENST00000343017.6	+	1	972	c.778G>C	c.(778-780)Gtg>Ctg	p.V260L	SNX18_ENST00000326277.3_Missense_Mutation_p.V260L|SNX18_ENST00000381410.4_Missense_Mutation_p.V260L	NM_001145427.1	NP_001138899.1	Q96RF0	SNX18_HUMAN	sorting nexin 18	260					cell communication|endocytosis|positive regulation of GTPase activity|protein transport	endomembrane system|endosome membrane|extrinsic to internal side of plasma membrane	phosphatidylinositol binding|protein binding			endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	18		Lung NSC(810;3.46e-05)|Breast(144;0.102)				CAAGCTGTGCGTGGTGCTGGG	0.637000													14	51					0	0	1	0	0
TBC1D16	125058	broad.mit.edu	37	17	77926584	77926584	+	Silent	SNP	G	G	A			TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chr17:77926584G>A	ENST00000310924.2	-	4	928	c.813C>T	c.(811-813)ttC>ttT	p.F271F		NM_001271844.1|NM_001271845.1|NM_019020.2	NP_001258773.1|NP_001258774.1|NP_061893.2	Q8TBP0	TBC16_HUMAN	TBC1 domain family, member 16	271						intracellular	Rab GTPase activator activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3)	28	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			TGCTGTCCGGGAACCGCAGGC	0.692000													8	44					0	0	1	0	0
HOXA9	3205	broad.mit.edu	37	7	27204563	27204563	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chr7:27204563C>T	ENST00000343483.6	-	1	586	c.514G>A	c.(514-516)Gaa>Aaa	p.E172K	HOXA9_ENST00000396345.1_3'UTR|RP1-170O19.20_ENST00000470747.4_Missense_Mutation_p.E12K|RP1-170O19.20_ENST00000465941.1_Intron|HOXA9_ENST00000497089.1_Intron	NM_152739.3	NP_689952.1	P31269	HXA9_HUMAN	homeobox A9	172							protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|lung(5)|prostate(1)	8						AAGGCGCCTTCGCTGGGTTGT	0.552000			T	"""NUP98, MSI2"""	AML*								7	29					0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79284666	79284666	+	Splice_Site	SNP	G	G	A			TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chr4:79284666G>A	ENST00000264895.6	+	21	2862		c.e21-1		FRAS1_ENST00000325942.6_Splice_Site	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1						cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TCCCCCTCCAGACTGCCATCA	0.562000													6	20					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100685609	100685609	+	Missense_Mutation	SNP	A	A	T			TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chr7:100685609A>T	ENST00000306151.4	+	3	10976	c.10912A>T	c.(10912-10914)Acc>Tcc	p.T3638S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3638	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)					CACTCCATTAACCATTATGCC	0.488000													14	94					0	0	1	0	0
PRKCQ	5588	broad.mit.edu	37	10	6539050	6539050	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chr10:6539050C>T	ENST00000263125.5	-	7	706	c.607G>A	c.(607-609)Gat>Aat	p.D203N	PRKCQ_ENST00000539722.1_Missense_Mutation_p.D78N|PRKCQ_ENST00000397176.2_Missense_Mutation_p.D203N	NM_001282644.1|NM_006257.3	NP_001269573.1|NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	203					axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						ATAACTTTATCAATACACTTC	0.343000													25	121					0	0	1	0	0
CUL2	8453	broad.mit.edu	37	10	35360127	35360127	+	Splice_Site	SNP	G	G	T			TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chr10:35360127G>T	ENST00000374748.1	-	3	432	c.119C>A	c.(118-120)tCa>tAa	p.S40*	CUL2_ENST00000602371.1_5'UTR|CUL2_ENST00000374746.1_Splice_Site_p.S40*|CUL2_ENST00000478044.1_5'UTR|CUL2_ENST00000537177.1_Splice_Site_p.S59*|CUL2_ENST00000374751.3_Splice_Site_p.S40*|CUL2_ENST00000374742.1_Splice_Site_p.S40*|CUL2_ENST00000374749.3_Splice_Site_p.S40*			Q13617	CUL2_HUMAN	cullin 2	40					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|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						AAAAGGATACGAGAAACGGTC	0.353000													20	80					3.51602e-12	3.77455e-12	1	1	0
SYNJ1	8867	broad.mit.edu	37	21	34037238	34037238	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chr21:34037238C>G	ENST00000382499.2	-	18	2405	c.2406G>C	c.(2404-2406)caG>caC	p.Q802H	SYNJ1_ENST00000382491.3_Missense_Mutation_p.Q758H|SYNJ1_ENST00000433931.2_Missense_Mutation_p.Q802H|SYNJ1_ENST00000322229.7_Missense_Mutation_p.Q763H|SYNJ1_ENST00000357345.3_Missense_Mutation_p.Q763H	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN	synaptojanin 1	763	Catalytic (Potential).						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						CAGCATTTTTCTGATTGATAA	0.328000													19	89					0	0	1	0	0
KAT8	84148	broad.mit.edu	37	16	31138519	31138519	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chr16:31138519G>A	ENST00000543774.2	+	6	861	c.526G>A	c.(526-528)Gtg>Atg	p.V176M	KAT8_ENST00000219797.4_Missense_Mutation_p.V176M|KAT8_ENST00000448516.2_Missense_Mutation_p.V176M			Q9H7Z6	MYST1_HUMAN	K(lysine) acetyltransferase 8	176					histone H4-K16 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex|MSL complex	histone acetyltransferase activity|metal ion binding|methylated histone residue binding|transcription factor binding										GATCACCAAGGTGAAGTATGT	0.582000													6	48					0	0	1	0	0
SENP3	26168	broad.mit.edu	37	17	7469082	7469082	+	Splice_Site	SNP	G	G	T			TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chr17:7469082G>T	ENST00000321337.7	+	6	1583		c.e6+1		SENP3_ENST00000429205.2_Splice_Site|SENP3-EIF4A1_ENST00000579777.1_RNA|SENP3_ENST00000578868.1_Splice_Site	NM_015670.5	NP_056485.2	Q9H4L4	SENP3_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 3						proteolysis	MLL1 complex|nucleolus	cysteine-type peptidase activity			central_nervous_system(1)|ovary(1)	2		Prostate(122;0.157)				CCCTGAAAAGGTAGGCCCAAC	0.502000													9	29					5.50884e-06	5.70419e-06	1	1	0
IYD	389434	broad.mit.edu	37	6	150713491	150713491	+	Silent	SNP	G	G	A	rs151181823	byFrequency	TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chr6:150713491G>A	ENST00000344419.3	+	3	521	c.381G>A	c.(379-381)ccG>ccA	p.P127P	IYD_ENST00000392256.2_Silent_p.P127P|IYD_ENST00000392255.3_Silent_p.P127P|IYD_ENST00000229447.5_Silent_p.P127P|IYD_ENST00000425615.3_Silent_p.P72P|IYD_ENST00000500320.3_Silent_p.P127P	NM_203395.2	NP_981932.1	Q6PHW0	IYD1_HUMAN	iodotyrosine deiodinase	127					cellular nitrogen compound metabolic process|hormone biosynthetic process	integral to membrane|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	15		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;4.16e-12)		GAACAGCCCCGAGTGGGGCTC	0.488000													17	81					0	0	1	0	0
DCST1	149095	broad.mit.edu	37	1	155018875	155018875	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chr1:155018875C>G	ENST00000295542.1	+	13	1504	c.1408C>G	c.(1408-1410)Ctg>Gtg	p.L470V	DCST1_ENST00000392480.1_Missense_Mutation_p.L470V|DCST1_ENST00000423025.2_Missense_Mutation_p.L445V|DCST1_ENST00000368419.2_Missense_Mutation_p.L470V	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	470						integral to membrane	zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			TCTGCTGCTGCTGGTGGTGCT	0.627000													3	66					0	0	1	0	0
GGT3P	2679	broad.mit.edu	37	22	18769203	18769203	+	RNA	SNP	G	G	A	rs111245818		TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chr22:18769203G>A	ENST00000412448.1	-	0	1083																											AGCCAGCCGCGGCAGGGTCAG	0.637000													3	28					0	0	1	0	0
TXNDC5	81567	broad.mit.edu	37	6	7891941	7891941	+	Silent	SNP	C	C	T	rs145727157	byFrequency	TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chr6:7891941C>T	ENST00000539054.1	-	5	428	c.429G>A	c.(427-429)ccG>ccA	p.P143P	BLOC1S5-TXNDC5_ENST00000439343.2_3'UTR|TXNDC5_ENST00000473453.1_Silent_p.P107P|TXNDC5_ENST00000379757.4_Silent_p.P215P			Q8NBS9	TXND5_HUMAN	thioredoxin domain containing 5 (endoplasmic reticulum)		Thioredoxin 1.				anti-apoptosis|cell redox homeostasis|cellular membrane organization|glycerol ether metabolic process|post-Golgi vesicle-mediated transport	endoplasmic reticulum lumen|lysosomal lumen	electron carrier activity|isomerase activity|protein disulfide oxidoreductase activity	p.P215P(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(2)	22	Ovarian(93;0.0398)					GACCACACCACGGAGCGAAGA	0.532000													4	39					0	0	1	0	0
NUMA1	4926	broad.mit.edu	37	11	71727559	71727559	+	Silent	SNP	C	C	T			TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chr11:71727559C>T	ENST00000393695.3	-	14	1468	c.1137G>A	c.(1135-1137)aaG>aaA	p.K379K	NUMA1_ENST00000358965.6_Silent_p.K379K|NUMA1_ENST00000351960.6_Silent_p.K379K|RP11-849H4.4_ENST00000502284.1_RNA	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	379					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						GGATTTCGTTCTTCTCTTCAA	0.502000			T	RARA	APL								7	51					0	0	1	0	0
FOXM1	2305	broad.mit.edu	37	12	2968461	2968461	+	Silent	SNP	C	C	T			TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chr12:2968461C>T	ENST00000342628.2	-	10	1862	c.1749G>A	c.(1747-1749)cgG>cgA	p.R583R	ITFG2_ENST00000545509.1_Intron|FOXM1_ENST00000361953.3_Silent_p.R530R|FOXM1_ENST00000359843.3_Silent_p.R545R	NM_202002.2	NP_973731.1	Q08050	FOXM1_HUMAN	forkhead box M1	545					cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			GCTGTTTTCTCCGAGACCGGC	0.602000													14	46					0	0	1	0	0
NUMA1	4926	broad.mit.edu	37	11	71727562	71727562	+	Silent	SNP	C	C	T			TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chr11:71727562C>T	ENST00000393695.3	-	14	1465	c.1134G>A	c.(1132-1134)gaG>gaA	p.E378E	NUMA1_ENST00000358965.6_Silent_p.E378E|NUMA1_ENST00000351960.6_Silent_p.E378E|RP11-849H4.4_ENST00000502284.1_RNA	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	378					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						TTTCGTTCTTCTCTTCAAGGC	0.502000			T	RARA	APL								7	52					0	0	1	0	0
TGFB1I1	7041	broad.mit.edu	37	16	31487362	31487362	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chr16:31487362C>A	ENST00000394863.3	+	8	874	c.744C>A	c.(742-744)caC>caA	p.H248Q	TGFB1I1_ENST00000394858.2_Missense_Mutation_p.H231Q|TGFB1I1_ENST00000567607.1_Missense_Mutation_p.H231Q|TGFB1I1_ENST00000361773.3_Missense_Mutation_p.H231Q	NM_001042454.2	NP_001035919.1	O43294	TGFI1_HUMAN	transforming growth factor beta 1 induced transcript 1	248	LIM zinc-binding 1.				androgen receptor signaling pathway|cell adhesion|negative regulation of cell proliferation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|transcription from RNA polymerase II promoter|ubiquitin-dependent SMAD protein catabolic process|Wnt receptor signaling pathway	cytoplasm|cytoskeleton|focal adhesion|nuclear matrix	androgen receptor binding|I-SMAD binding|Roundabout binding|transcription coactivator activity|zinc ion binding			lung(8)|upper_aerodigestive_tract(1)	9						GCGCCTGGCACCCCGAGCACT	0.647000													5	59					0.00198382	0.00202544	1	1	0
ZBTB40	9923	broad.mit.edu	37	1	22817053	22817053	+	Silent	SNP	G	G	A	rs146825007	by1000genomes	TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chr1:22817053G>A	ENST00000404138.1	+	3	1123	c.612G>A	c.(610-612)gcG>gcA	p.A204A	ZBTB40_ENST00000375647.4_Silent_p.A204A|ZBTB40_ENST00000374651.4_Silent_p.A204A	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	204					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		AAACCCCAGCGGAGACTCCTA	0.507000													15	59					0	0	1	0	0
TCFL5	10732	broad.mit.edu	37	20	61488847	61488847	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chr20:61488847C>T	ENST00000335351.3	-	4	1230	c.1138G>A	c.(1138-1140)Gag>Aag	p.E380K	TCFL5_ENST00000217162.5_Missense_Mutation_p.E332K	NM_006602.2	NP_006593.2	Q9UL49	TCFL5_HUMAN	transcription factor-like 5 (basic helix-loop-helix)	380			E -> D (in dbSNP:rs34304654).		cell differentiation|multicellular organismal development|regulation of cell differentiation|regulation of cell proliferation|spermatogenesis|transcription from RNA polymerase II promoter		DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|urinary_tract(1)	9	Breast(26;5.68e-08)					TGTGAGGACTCCGAGGACTGC	0.572000													18	101					0	0	1	0	0
CYP7A1	1581	broad.mit.edu	37	8	59409363	59409363	+	Silent	SNP	C	C	T			TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chr8:59409363C>T	ENST00000301645.3	-	3	845	c.708G>A	c.(706-708)gaG>gaA	p.E236E		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1	236					bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				CTGCCAGTTTCTCCCGGGCAT	0.498000									Neonatal Giant Cell Hepatitis				26	97					0	0	1	0	0
KIAA0947	23379	broad.mit.edu	37	5	5466456	5466456	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chr5:5466456G>C	ENST00000296564.7	+	14	6124	c.5902G>C	c.(5902-5904)Gag>Cag	p.E1968Q		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	1968										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						GCATTTAGCAGAGTGCTTGCT	0.348000													8	38					0	0	1	0	0
NUMA1	4926	broad.mit.edu	37	11	71727240	71727240	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chr11:71727240C>G	ENST00000393695.3	-	15	1640	c.1309G>C	c.(1309-1311)Gag>Cag	p.E437Q	NUMA1_ENST00000358965.6_Missense_Mutation_p.E437Q|NUMA1_ENST00000351960.6_Intron|RP11-849H4.4_ENST00000502284.1_RNA	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	437					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						TCCAGCATCTCTACCCTGGCT	0.537000			T	RARA	APL						OREG0021187	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	59					0	0	1	0	0
RP11-93K22.13	0	broad.mit.edu	37	3	129811873	129811877	+	RNA	DEL	AAAAA	AAAAA	-	rs71158104		TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chr3:129811873_129811877delAAAAA	ENST00000514010.1	-	0	157				ALG1L2_ENST00000507643.1_RNA																							agtctgtcagaaaaaaaaaaaaaaa	0.385													5	8	---	---	---	---					
PTAR1	375743	broad.mit.edu	37	9	72338340	72338342	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chr9:72338340_72338342delTTC	ENST00000377200.5	-	4	612_614	c.610_612delGAA	c.(610-612)gaadel	p.E204del	PTAR1_ENST00000340434.4_In_Frame_Del_p.E283del			Q7Z6K3	PTAR1_HUMAN	protein prenyltransferase alpha subunit repeat containing 1	283					protein prenylation		protein prenyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)	5						TAATCCTTGGTTCTTCTGTTGAA	0.424													11	47	---	---	---	---					
TSC1	7248	broad.mit.edu	37	9	135797312	135797323	+	In_Frame_Del	DEL	GCGTACACACTG	GCGTACACACTG	-	rs118203398		TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chr9:135797312_135797323delGCGTACACACTG	ENST00000298552.3	-	7	767_778	c.546_557delCAGTGTGTACGC	c.(544-558)gccagtgtgtacgca>gca	p.182_186ASVYA>A	TSC1_ENST00000403810.1_In_Frame_Del_p.182_186ASVYA>A|TSC1_ENST00000440111.2_In_Frame_Del_p.182_186ASVYA>A|TSC1_ENST00000545250.1_In_Frame_Del_p.131_135ASVYA>A|TSC1_ENST00000475903.1_5'UTR	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	182					activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	p.Y185Y(1)|p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		ATGAAAGAGTGCGTACACACTGGCATGGAGAT	0.462			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				8	65	---	---	---	---					
ZFP36L1	677	broad.mit.edu	37	14	69256784	69256785	+	Frame_Shift_Ins	INS	-	-	A			TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chr14:69256784_69256785insA	ENST00000439696.2	-	2	783_784	c.482_483insT	c.(481-483)ttcfs	p.F161fs	ZFP36L1_ENST00000555997.1_3'UTR|ZFP36L1_ENST00000336440.3_Frame_Shift_Ins_p.F161fs	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	161					regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.F161L(1)		breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		CGATGGTGTGGAAGGTGCGGCA	0.668											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	73	---	---	---	---					
TPTE	7179	broad.mit.edu	37	21	10944697	10944697	+	Frame_Shift_Del	DEL	A	A	-			TCGA-XF-AAMR-01A-31D-A42E-08	TCGA-XF-AAMR-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82cffe80-d5bd-47d3-8ac5-e39aea1a186e	e26e9010-21c7-479e-84c7-b952cb579cd7	g.chr21:10944697delA	ENST00000298232.7	-	10	850	c.483delT	c.(481-483)tttfs	p.F161fs	TPTE_ENST00000361285.4_Frame_Shift_Del_p.F179fs|TPTE_ENST00000342420.5_Frame_Shift_Del_p.F141fs|TPTE_ENST00000415664.2_5'UTR	NM_199259.2	NP_954868	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	179					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			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)		ACTTAATGTCAAAAAAAATGT	0.299													10	305	---	---	---	---