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
CR1L	1379	broad.mit.edu	37	1	207818635	207818635	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr1:207818635G>C	ENST00000508064.2	+	1	117	c.57G>C	c.(55-57)ttG>ttC	p.L19F		NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	19						cytoplasm|extracellular region|membrane		p.L19F(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TTCCTGGGTTGCTTCTGGCGG	0.667000													3	80					0	0	1	0	0
BNIP3P1	0	broad.mit.edu	37	14	28733803	28733803	+	RNA	SNP	A	A	T			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr14:28733803A>T	ENST00000550043.1	+	0	208																											GAGAGCCTGCAGGGCTCCTGG	0.582000													3	37					0	0	1	0	0
PSMG2	56984	broad.mit.edu	37	18	12706677	12706677	+	Silent	SNP	G	G	T			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr18:12706677G>T	ENST00000317615.6	+	2	868	c.186G>T	c.(184-186)gcG>gcT	p.A62A	PSMG2_ENST00000590217.1_Silent_p.A62A|RP11-973H7.2_ENST00000585331.1_RNA	NM_020232.4|NM_147163.1	NP_064617.2|NP_671692.1	Q969U7	PSMG2_HUMAN	proteasome (prosome, macropain) assembly chaperone 2	62					proteasome assembly	nucleus	protein binding	p.A62A(1)		lung(1)|prostate(2)|skin(1)	4						ATCCATATGCGACCACAGAAG	0.348000													48	50					4.64027e-19	5.26173e-19	1	1	0
OR7C1	26664	broad.mit.edu	37	19	14910838	14910838	+	Silent	SNP	G	G	C			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr19:14910838G>C	ENST00000248073.2	-	1	185	c.111C>G	c.(109-111)gtC>gtG	p.V37V	OR7A5_ENST00000601611.1_Intron	NM_198944.1	NP_945182.1	O76099	OR7C1_HUMAN	olfactory receptor, family 7, subfamily C, member 1	37					sensory perception of smell|spermatogenesis	integral to membrane|plasma membrane	olfactory receptor activity	p.V37V(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(2)|ovary(2)|prostate(1)	18						CGGTGAAAGTGACTAGGTACA	0.493000													6	144					0	0	1	0	0
GPR75	10936	broad.mit.edu	37	2	54081085	54081085	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr2:54081085G>A	ENST00000394705.2	-	2	1079	c.809C>T	c.(808-810)gCt>gTt	p.A270V	GPR75-ASB3_ENST00000352846.3_Intron|ASB3_ENST00000498475.2_Intron|ASB3_ENST00000406625.2_Intron	NM_006794.3	NP_006785.1	O95800	GPR75_HUMAN	G protein-coupled receptor 75	270						integral to plasma membrane	G-protein coupled receptor activity	p.A270V(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			CCTATACAGAGCCGGCATGGC	0.557000													3	80					0	0	1	0	0
UBQLNL	143630	broad.mit.edu	37	11	5537038	5537038	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr11:5537038A>T	ENST00000380184.1	-	1	897	c.634T>A	c.(634-636)Tcc>Acc	p.S212T	HBG2_ENST00000380259.2_Intron	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	212								p.S212T(1)		endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		AGAAGGCGGGAAACTTCTGGG	0.468000													9	287					0	0	1	0	0
OR52D1	390066	broad.mit.edu	37	11	5510672	5510672	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr11:5510672T>G	ENST00000322641.5	+	1	758	c.736T>G	c.(736-738)Tcc>Gcc	p.S246A	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D, member 1	246					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S246A(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TACCTGTGGCTCCCACATTGG	0.498000													7	184					0	0	1	0	0
ISX	91464	broad.mit.edu	37	22	35481682	35481682	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr22:35481682C>G	ENST00000308700.6	+	4	1686	c.734C>G	c.(733-735)aCa>aGa	p.T245R	ISX_ENST00000404699.2_Missense_Mutation_p.T245R	NM_001008494.1	NP_001008494.1	Q2M1V0	ISX_HUMAN	intestine-specific homeobox	245						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.T245R(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4)	26						GCTACTTCAACATAGAGATTG	0.532000													3	121					0	0	1	0	0
CRISP2	7180	broad.mit.edu	37	6	49666128	49666128	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr6:49666128C>G	ENST00000339139.4	-	7	600	c.364G>C	c.(364-366)Gtc>Ctc	p.V122L		NM_001142407.2|NM_001142408.2|NM_001142417.2|NM_001142435.2|NM_001261822.1|NM_003296.3	NP_001135879.1|NP_001135880.1|NP_001135889.1|NP_001135907.1|NP_001248751.1|NP_003287.1	P16562	CRIS2_HUMAN	cysteine-rich secretory protein 2	122						extracellular space		p.V122L(1)		kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			ACACCATAGACAAAATCTAGG	0.413000													4	182					0	0	1	0	0
ZNF512B	57473	broad.mit.edu	37	20	62598086	62598086	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr20:62598086C>T	ENST00000450537.1	-	5	502	c.442G>A	c.(442-444)Gca>Aca	p.A148T	ZNF512B_ENST00000369888.1_Missense_Mutation_p.A148T|ZNF512B_ENST00000217130.3_Missense_Mutation_p.A148T			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	148					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A148T(2)		NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					GAGGTGAATGCGGCCTCGCAG	0.647000													3	60					0	0	1	0	0
PRKDC	5591	broad.mit.edu	37	8	48769758	48769758	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr8:48769758C>A	ENST00000314191.2	-	50	6621	c.6565G>T	c.(6565-6567)Gtg>Ttg	p.V2189L	PRKDC_ENST00000338368.3_Missense_Mutation_p.V2189L|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2190					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	p.V2189L(1)|p.V2190L(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				ATAGTGGCCACTATCTCAACC	0.458000								Non-homologous end-joining					5	24					0.0215528	0.0220742	1	1	0
MDN1	23195	broad.mit.edu	37	6	90411737	90411737	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr6:90411737G>A	ENST00000369393.3	-	54	8307	c.8192C>T	c.(8191-8193)gCc>gTc	p.A2731V	MDN1_ENST00000428876.1_Missense_Mutation_p.A2731V			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2731					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TACTGTGTCGGCCACAGTCCA	0.488000													3	53					0	0	1	0	0
PDP2	57546	broad.mit.edu	37	16	66919043	66919043	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr16:66919043G>A	ENST00000311765.2	+	2	1190	c.856G>A	c.(856-858)Gac>Aac	p.D286N	PDP2_ENST00000568720.1_Intron	NM_020786.2	NP_065837.1	Q9P2J9	PDP2_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 2	286					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity|metal ion binding	p.D286N(1)		kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)		AAATGCTGGTGACTGCCGAGC	0.557000													14	70					0	0	1	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18955603	18955603	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr11:18955603G>T	ENST00000302797.3	-	1	953	c.729C>A	c.(727-729)caC>caA	p.H243Q		NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	243					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.H243Q(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CCCTGTCCACGTGGATCCATA	0.478000													12	126					2.80697e-09	3.04689e-09	1	1	0
LRRC3B	116135	broad.mit.edu	37	3	26751543	26751543	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr3:26751543G>C	ENST00000396641.2	+	2	972	c.380G>C	c.(379-381)aGt>aCt	p.S127T	LRRC3B_ENST00000417744.1_Missense_Mutation_p.S127T|LRRC3B_ENST00000456208.2_Missense_Mutation_p.S127T	NM_052953.2	NP_443185.1	Q96PB8	LRC3B_HUMAN	leucine rich repeat containing 3B	127						integral to membrane		p.S127T(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						CGGATTCAAAGTGTGCACAAA	0.478000													25	43					0	0	1	0	0
TCAIM	285343	broad.mit.edu	37	3	44399287	44399287	+	Silent	SNP	G	G	C			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr3:44399287G>C	ENST00000342649.4	+	3	511	c.84G>C	c.(82-84)tcG>tcC	p.S28S	TCAIM_ENST00000417237.1_Silent_p.S28S|TCAIM_ENST00000396078.3_Silent_p.S28S|TCAIM_ENST00000383746.3_Silent_p.S28S	NM_173826.3	NP_776187.2			T cell activation inhibitor, mitochondrial									p.S28S(2)									GAGCTTTATCGGGAGCTGAAG	0.398000													40	78					0	0	1	0	0
MTMR7	9108	broad.mit.edu	37	8	17169089	17169089	+	Silent	SNP	C	C	T			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr8:17169089C>T	ENST00000180173.5	-	9	1066	c.1032G>A	c.(1030-1032)agG>agA	p.R344R	MTMR7_ENST00000398099.3_5'UTR|MTMR7_ENST00000521857.1_Silent_p.R344R	NM_004686.4	NP_004677.3	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	344	Myotubularin phosphatase.|Substrate binding (By similarity).						protein tyrosine phosphatase activity	p.R344R(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		CCTGAGCGGTCCTGTCCCAGC	0.567000													37	203					0	0	1	0	0
CHAF1A	10036	broad.mit.edu	37	19	4432096	4432096	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr19:4432096G>A	ENST00000301280.5	+	12	2196	c.2095G>A	c.(2095-2097)Gat>Aat	p.D699N	CHAF1A_ENST00000587368.1_3'UTR	NM_005483.2	NP_005474.2	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	699	Binds to p60.				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding	p.D699N(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGCGCAGGCGATGACCTGAA	0.637000								Chromatin Structure					14	65					0	0	1	0	0
DNAJB2	3300	broad.mit.edu	37	2	220145308	220145308	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr2:220145308G>A	ENST00000336576.5	+	3	362	c.74G>A	c.(73-75)cGc>cAc	p.R25H	DNAJB2_ENST00000392086.4_Missense_Mutation_p.R25H|DNAJB2_ENST00000463463.1_3'UTR	NM_006736.5	NP_006727.2	P25686	DNJB2_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 2	25	J.				ER-associated protein catabolic process|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of inclusion body assembly|negative regulation of protein deubiquitination|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding|response to unfolded protein	inclusion body	heat shock protein binding|Hsp70 protein binding|polyubiquitin binding|proteasome binding|protein binding|unfolded protein binding	p.R25H(1)		endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14		Renal(207;0.0474)		Epithelial(149;1.97e-06)|all cancers(144;0.00028)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGGTATCGGCGCAAGGCTCTC	0.517000													3	57					0	0	1	0	0
KCNAB3	9196	broad.mit.edu	37	17	7827736	7827736	+	Silent	SNP	G	G	T	rs145774275		TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr17:7827736G>T	ENST00000303790.2	-	9	707	c.708C>A	c.(706-708)atC>atA	p.I236I		NM_004732.3	NP_004723.2	O43448	KCAB3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 3	236						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity	p.I236I(1)		breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	8		Prostate(122;0.157)				CACTCACCATGATTTCTGCAG	0.572000													3	57					1	1	1	1	0
DUOX2	50506	broad.mit.edu	37	15	45404868	45404868	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr15:45404868T>C	ENST00000389039.6	-	4	594	c.209A>G	c.(208-210)tAt>tGt	p.Y70C	DUOX2_ENST00000603300.1_Missense_Mutation_p.Y70C			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	70	Peroxidase-like; mediates peroxidase activity (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity	p.Y70C(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CAGAGCCTGATACACACCGTC	0.687000													15	29					0	0	1	0	0
RASGRP3	25780	broad.mit.edu	37	2	33745725	33745725	+	Silent	SNP	C	C	T			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr2:33745725C>T	ENST00000403687.3	+	6	1082	c.342C>T	c.(340-342)caC>caT	p.H114H	RASGRP3_ENST00000402538.3_Silent_p.H114H|RASGRP3_ENST00000407811.1_Silent_p.H114H	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	114	N-terminal Ras-GEF.				MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity	p.H114H(1)		large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					ATGAAAAACACGTCAGCCTCA	0.448000													92	159					0	0	1	0	0
KRTDAP	388533	broad.mit.edu	37	19	35981320	35981320	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr19:35981320C>T	ENST00000338897.3	-	1	113	c.25G>A	c.(25-27)Gtg>Atg	p.V9M	KRTDAP_ENST00000479340.1_Intron|KRTDAP_ENST00000484218.2_Missense_Mutation_p.V9M	NM_207392.2	NP_997275.1	P60985	KTDAP_HUMAN	keratinocyte differentiation-associated protein	9					cell differentiation	extracellular region		p.V9M(1)		breast(1)|lung(4)|prostate(1)	6	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			AGGAGCACCACGGCAGGAAGG	0.572000													6	150					0	0	1	0	0
LY9	4063	broad.mit.edu	37	1	160783454	160783454	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr1:160783454G>C	ENST00000263285.5	+	3	513	c.483G>C	c.(481-483)atG>atC	p.M161I	LY9_ENST00000471816.1_3'UTR|LY9_ENST00000368040.1_5'UTR|LY9_ENST00000341032.4_Missense_Mutation_p.M161I|LY9_ENST00000368041.2_Missense_Mutation_p.M121I	NM_001261456.1|NM_002348.3	NP_001248385.1|NP_002339.2	Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	161	Ig-like C2-type 1.				cell adhesion|immunoglobulin mediated immune response	integral to membrane		p.M161I(1)		autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			AAGTCACCATGAAGTCTGTGA	0.532000													10	114					0	0	1	0	0
PCDHA12	0	broad.mit.edu	37	5	140255276	140255276	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr5:140255276C>A	ENST00000398631.2	+	1	219	c.219C>A	c.(217-219)gaC>gaA	p.D73E	PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1												p.D73E(1)		NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACACGGGGACCTTCTGGAGG	0.622000													59	134					5.98616e-33	7.03928e-33	1	1	0
UBTF	7343	broad.mit.edu	37	17	42284563	42284563	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr17:42284563G>C	ENST00000527034.1	-	20	2408	c.2227C>G	c.(2227-2229)Ctc>Gtc	p.L743V	UBTF_ENST00000533177.1_3'UTR|UBTF_ENST00000393606.3_3'UTR|UBTF_ENST00000436088.1_3'UTR|UBTF_ENST00000302904.4_3'UTR|UBTF_ENST00000343638.5_3'UTR|CTB-175E5.7_ENST00000586560.1_RNA			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I	0	Asp/Glu/Ser-rich (acidic).				positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		CAGTTGGGGAGGGGAGCTCCT	0.567000													15	25					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48318294	48318294	+	Silent	SNP	T	T	C			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr7:48318294T>C	ENST00000435803.1	+	18	7527	c.7503T>C	c.(7501-7503)acT>acC	p.T2501T		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2501					transport	integral to membrane	ATP binding|ATPase activity	p.T2501T(2)|p.T2446T(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TGTCTGGGACTCTGGTCATGC	0.428000													29	378					0	0	1	0	0
EIF2D	1939	broad.mit.edu	37	1	206778810	206778810	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr1:206778810G>A	ENST00000271764.2	-	5	681	c.473C>T	c.(472-474)aCg>aTg	p.T158M	EIF2D_ENST00000367114.3_Missense_Mutation_p.T158M	NM_006893.2	NP_008824.2	P41214	EIF2D_HUMAN	eukaryotic translation initiation factor 2D	158	PUA.				intracellular protein transport	cytoplasm	protein binding|receptor activity|translation initiation factor activity	p.T158M(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						CAGGCCTGACGTGAGCATCTC	0.537000													4	44					0	0	1	0	0
CCR9	10803	broad.mit.edu	37	3	45942586	45942586	+	Silent	SNP	C	C	T			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr3:45942586C>T	ENST00000357632.2	+	3	486	c.306C>T	c.(304-306)ccC>ccT	p.P102P	CCR9_ENST00000422395.1_3'UTR|CCR9_ENST00000355983.2_Silent_p.P90P|LZTFL1_ENST00000539217.1_Intron|LZTFL1_ENST00000536047.1_Intron|CCR9_ENST00000395963.2_Silent_p.P90P	NM_001256369.1|NM_031200.2	NP_001243298.1|NP_112477.1	P51686	CCR9_HUMAN	chemokine (C-C motif) receptor 9	102					cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane		p.P102P(1)		breast(1)|endometrium(4)|large_intestine(8)|lung(2)|ovary(2)|prostate(2)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214)		TCACTCTTCCCTTCTGGGCCA	0.473000													8	396					0	0	1	0	0
EBF2	64641	broad.mit.edu	37	8	25745379	25745379	+	Silent	SNP	C	C	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr8:25745379C>A	ENST00000520164.1	-	9	1398	c.861G>T	c.(859-861)ggG>ggT	p.G287G	EBF2_ENST00000535548.1_Silent_p.G18G|EBF2_ENST00000408929.3_Silent_p.G139G	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	287	IPT/TIG.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding	p.G287G(2)		endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		CAAGCATAGTCCCAAACACCA	0.488000													35	67					2.20474e-14	2.45615e-14	1	1	0
VWC2L	402117	broad.mit.edu	37	2	215278952	215278952	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr2:215278952T>G	ENST00000312504.5	+	2	837	c.35T>G	c.(34-36)cTg>cGg	p.L12R	AC107218.3_ENST00000412896.1_RNA|AC107218.3_ENST00000437883.1_RNA|VWC2L_ENST00000427124.1_Missense_Mutation_p.L12R	NM_001080500.2	NP_001073969.1	B2RUY7	VWC2L_HUMAN	von Willebrand factor C domain containing protein 2-like	12						extracellular region		p.L12R(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(10)|prostate(1)	16						TGCATACTTCTGTTGGTCATC	0.433000													9	107					0	0	1	0	0
LARP1	23367	broad.mit.edu	37	5	154182914	154182914	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr5:154182914C>A	ENST00000336314.4	+	12	1967	c.1943C>A	c.(1942-1944)cCt>cAt	p.P648H		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	725							protein binding|RNA binding	p.P725H(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ACACTGACCCCTGAGCCCCCT	0.532000													3	59					1	1	1	1	0
XIRP1	165904	broad.mit.edu	37	3	39226607	39226607	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr3:39226607G>T	ENST00000340369.3	-	2	4558	c.4330C>A	c.(4330-4332)Ccc>Acc	p.P1444T	XIRP1_ENST00000396251.1_3'UTR|XIRP1_ENST00000421646.1_Missense_Mutation_p.P127T	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1444							actin binding	p.P1444T(1)		breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		TCTCCTGAGGGGCCGGGGCCC	0.612000													34	112					2.47316e-13	2.70768e-13	1	1	0
GRM4	2914	broad.mit.edu	37	6	34100899	34100899	+	Silent	SNP	C	C	T			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr6:34100899C>T	ENST00000374181.3	-	1	544	c.375G>A	c.(373-375)gcG>gcA	p.A125A	GRM4_ENST00000374177.3_Intron|GRM4_ENST00000538487.1_Silent_p.A125A	NM_001256810.1	NP_001243739.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	125					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.A125A(2)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	TCTCGATGAGCGCCTGCACAA	0.632000													16	19					0	0	1	0	0
RCBTB1	55213	broad.mit.edu	37	13	50123715	50123715	+	Silent	SNP	G	G	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr13:50123715G>A	ENST00000378302.2	-	9	1184	c.924C>T	c.(922-924)taC>taT	p.Y308Y	RCBTB1_ENST00000546015.1_Silent_p.Y308Y|RCBTB1_ENST00000258646.3_Silent_p.Y308Y	NM_018191.3	NP_060661.3	Q8NDN9	RCBT1_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1	308					cell cycle|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		p.Y308Y(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(1)	16		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;4.7e-09)		GGCCCCACATGTACACGTGCC	0.577000													20	47					0	0	1	0	0
PEMT	10400	broad.mit.edu	37	17	17412831	17412831	+	Silent	SNP	C	C	T			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr17:17412831C>T	ENST00000395781.2	-	5	576	c.495G>A	c.(493-495)gcG>gcA	p.A165A	PEMT_ENST00000395783.1_Silent_p.A128A|PEMT_ENST00000484838.2_5'UTR|PEMT_ENST00000395782.1_Silent_p.A128A|PEMT_ENST00000435340.2_Silent_p.A143A|PEMT_ENST00000255389.5_Silent_p.A165A	NM_001267552.1	NP_001254481.1	Q9UBM1	PEMT_HUMAN	phosphatidylethanolamine N-methyltransferase	128					cell proliferation|phosphatidylcholine biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial membrane	phosphatidylethanolamine N-methyltransferase activity	p.A165A(1)		endometrium(1)|kidney(1)|large_intestine(2)|prostate(3)	7				Colorectal(2;0.0157)|READ - Rectum adenocarcinoma(2;0.0891)		CGGTCACTCTCGCCTCCTTGA	0.592000													11	72					0	0	1	0	0
RSPRY1	89970	broad.mit.edu	37	16	57243065	57243065	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr16:57243065C>T	ENST00000537866.1	+	4	1355	c.482C>T	c.(481-483)aCa>aTa	p.T161I	RSPRY1_ENST00000394420.4_Missense_Mutation_p.T161I			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	161						extracellular region	zinc ion binding	p.T161I(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						GCTGTTATAACATTGTTACTA	0.348000													24	388					0	0	1	0	0
NUDCD1	84955	broad.mit.edu	37	8	110293385	110293385	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr8:110293385C>G	ENST00000239690.4	-	6	1214	c.840G>C	c.(838-840)tgG>tgC	p.W280C	NUDCD1_ENST00000427660.2_Missense_Mutation_p.W251C	NM_032869.3	NP_116258.2	Q96RS6	NUDC1_HUMAN	NudC domain containing 1	280	CS.							p.W280C(2)		breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(2)|skin(1)	25	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)			CAGTCTGTTGCCAGTAATACA	0.348000													10	140					0	0	1	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38600988	38600988	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr19:38600988G>A	ENST00000222345.6	+	8	2764	c.2255G>A	c.(2254-2256)cGa>cAa	p.R752Q		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	752	Rap-GAP.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	p.R752Q(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			ATCATTGTCCGAGTCCACAAC	0.597000													26	31					0	0	1	0	0
STK4	6789	broad.mit.edu	37	20	43703680	43703680	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr20:43703680G>A	ENST00000372806.3	+	11	1422	c.1327G>A	c.(1327-1329)Gac>Aac	p.D443N	STK4_ENST00000372801.1_3'UTR|STK4_ENST00000499879.2_Missense_Mutation_p.D388N	NM_006282.2	NP_006273.1	Q13043	STK4_HUMAN	serine/threonine kinase 4	443	SARAH.				apoptosis|cell morphogenesis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of apoptosis|protein autophosphorylation	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein homodimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity|transcription factor binding	p.D443N(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Myeloproliferative disorder(115;0.0122)				GACAGTGGAGGACCTTCAGAA	0.542000													5	68					0	0	1	0	0
OR1J1	347168	broad.mit.edu	37	9	125239347	125239347	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr9:125239347G>T	ENST00000259357.2	-	1	888	c.859C>A	c.(859-861)Cca>Aca	p.P287T		NM_001004451.1	NP_001004451.1	Q8NGS3	OR1J1_HUMAN	olfactory receptor, family 1, subfamily J, member 1	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P287T(1)		endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	16						TAAATGAATGGGTTCAACATG	0.418000													63	151					7.59065e-32	8.84415e-32	1	1	0
FLG	2312	broad.mit.edu	37	1	152275293	152275293	+	Silent	SNP	A	A	G			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr1:152275293A>G	ENST00000368799.1	-	3	12104	c.12069T>C	c.(12067-12069)gaT>gaC	p.D4023D	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	4023					keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.D4023D(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACCTTGGATGATCTTTACCAA	0.383000									Ichthyosis				68	192					0	0	1	0	0
TENM4	26011	broad.mit.edu	37	11	78516453	78516453	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr11:78516453T>A	ENST00000278550.7	-	15	2525	c.2063A>T	c.(2062-2064)aAc>aTc	p.N688I		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4									p.N688I(2)									GGTCTCGCAGTTGGTGCCTCC	0.617000													4	9					0	0	1	0	0
NOTCH2	4853	broad.mit.edu	37	1	120479922	120479922	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr1:120479922C>T	ENST00000256646.2	-	21	3724	c.3505G>A	c.(3505-3507)Ggt>Agt	p.G1169S		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1169	EGF-like 30; calcium-binding (Potential).				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTGTATCCACCAATGAAGTCA	0.527000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				18	148					0	0	1	0	0
PIAS3	10401	broad.mit.edu	37	1	145580242	145580242	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr1:145580242A>G	ENST00000393045.2	+	6	814	c.724A>G	c.(724-726)Atc>Gtc	p.I242V	PIAS3_ENST00000369299.3_Missense_Mutation_p.I233V|PIAS3_ENST00000369298.1_Missense_Mutation_p.I207V	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	242	PINIT.				positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding	p.I242V(2)|p.I233V(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CAGCCGCCCCATCAACATCAC	0.587000													14	205					0	0	1	0	0
MCOLN3	55283	broad.mit.edu	37	1	85510885	85510885	+	Silent	SNP	G	G	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr1:85510885G>A	ENST00000370587.1	-	3	535	c.159C>T	c.(157-159)ttC>ttT	p.F53F	WDR63_ENST00000370596.1_Intron|MCOLN3_ENST00000370589.2_Silent_p.F53F|MCOLN3_ENST00000341115.4_Silent_p.F53F			Q8TDD5	MCLN3_HUMAN	mucolipin 3	53						integral to membrane	ion channel activity	p.F53F(1)		endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34				all cancers(265;0.00957)|Epithelial(280;0.0254)		CTCGAGCCCAGAACTTCTCAC	0.393000													7	140					0	0	1	0	0
RP11-156P1.3	0	broad.mit.edu	37	17	45128812	45128812	+	RNA	SNP	C	C	T			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr17:45128812C>T	ENST00000575173.1	-	0	418																											AGTCCTGTTTCTGTGTGGATT	0.373000													3	76					0	0	1	0	0
RETSAT	54884	broad.mit.edu	37	2	85571797	85571797	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr2:85571797G>C	ENST00000295802.4	-	7	1288	c.1176C>G	c.(1174-1176)atC>atG	p.I392M	RETSAT_ENST00000263854.6_Missense_Mutation_p.I392M|RETSAT_ENST00000457495.2_Missense_Mutation_p.I331M|RETSAT_ENST00000475624.2_5'UTR	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)	392					retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity	p.I392M(1)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	CTCGCAGGCAGATGAAAACAG	0.592000													3	77					0	0	1	0	0
CDH17	1015	broad.mit.edu	37	8	95158181	95158181	+	Silent	SNP	G	G	A	rs147500239	byFrequency	TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr8:95158181G>A	ENST00000027335.3	-	15	2266	c.2142C>T	c.(2140-2142)aaC>aaT	p.N714N	CDH17_ENST00000450165.2_Silent_p.N714N|CDH17_ENST00000441892.2_Silent_p.N500N	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	714	Cadherin 7.					integral to membrane	calcium ion binding	p.N714N(1)		NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			CTTCCCAGTCGTTTTGTAAGC	0.408000													37	108					0	0	1	0	0
ACAD10	80724	broad.mit.edu	37	12	112153696	112153696	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr12:112153696G>A	ENST00000455480.2	+	8	1192	c.1015G>A	c.(1015-1017)Gat>Aat	p.D339N	ACAD10_ENST00000549590.1_Missense_Mutation_p.D308N|ACAD10_ENST00000313698.4_Missense_Mutation_p.D308N|ACAD10_ENST00000392636.2_5'UTR|ACAD10_ENST00000413681.3_3'UTR	NM_001136538.1	NP_001130010.1	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	308							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups	p.D308N(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						GGCTAATCGTGATCTAGTTCT	0.488000													29	387					0	0	1	0	0
TANGO6	79613	broad.mit.edu	37	16	69056743	69056743	+	Nonsense_Mutation	SNP	C	C	G			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr16:69056743C>G	ENST00000261778.1	+	16	2867	c.2855C>G	c.(2854-2856)tCa>tGa	p.S952*		NM_024562.1	NP_078838.1			transport and golgi organization 6 homolog (Drosophila)									p.S952*(1)|p.S481*(1)									GACATGGTCTCAAAGTACCGA	0.438000													3	11					0	0	1	0	0
PDE2A	5138	broad.mit.edu	37	11	72295684	72295684	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr11:72295684G>T	ENST00000334456.5	-	18	1693	c.1448C>A	c.(1447-1449)gCc>gAc	p.A483D	PDE2A_ENST00000544570.1_Missense_Mutation_p.A476D|PDE2A_ENST00000540345.1_Missense_Mutation_p.A474D|PDE2A_ENST00000444035.2_Missense_Mutation_p.A474D|PDE2A_ENST00000376450.3_Missense_Mutation_p.A227D|RP11-169D4.2_ENST00000545254.1_RNA|PDE2A_ENST00000418754.2_Missense_Mutation_p.A368D	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	483	GAF 2.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.A483D(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	AAGCGGATGGGCATATGCGTC	0.642000													6	26					0.000673444	0.000712728	1	1	0
BET1	10282	broad.mit.edu	37	7	93633528	93633528	+	Translation_Start_Site	SNP	T	T	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr7:93633528T>A	ENST00000222547.3	-	1	159	c.1A>T	c.(1-3)Atg>Ttg	p.M1L	BET1_ENST00000425626.1_Start_Codon_SNP_p.M1L|AC006378.2_ENST00000426634.1_RNA|BET1_ENST00000433727.1_Start_Codon_SNP_p.M1L	NM_005868.4	NP_005859.1	O15155	BET1_HUMAN	Bet1 golgi vesicular membrane trafficking protein	1					ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	protein binding	p.M1L(1)		large_intestine(2)|lung(1)|prostate(1)|skin(1)	5	all_cancers(62;2.22e-10)|all_epithelial(64;1.38e-09)|Lung NSC(181;0.218)	Breast(660;0.000162)|Ovarian(593;0.000626)	STAD - Stomach adenocarcinoma(171;0.000967)			GCACGCCTCATCCTGCCAGAG	0.632000													37	76					0	0	1	0	0
ABCG5	64240	broad.mit.edu	37	2	44040309	44040309	+	Silent	SNP	A	A	T			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr2:44040309A>T	ENST00000543989.1	-	9	2422	c.717T>A	c.(715-717)ctT>ctA	p.L239L	ABCG5_ENST00000405322.1_Silent_p.L463L|ABCG5_ENST00000260645.1_Silent_p.L634L			Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5	634	ABC transporter.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity	p.L634L(1)		breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CTAGGATGACAAGAGCTGGAA	0.403000													26	60					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152647137	152647137	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr6:152647137T>A	ENST00000367255.5	-	80	15995	c.15394A>T	c.(15394-15396)Act>Tct	p.T5132S	SYNE1_ENST00000265368.4_Missense_Mutation_p.T5132S|SYNE1_ENST00000423061.1_Missense_Mutation_p.T5061S|SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000448038.1_Missense_Mutation_p.T5061S	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5132					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	p.T5132S(3)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTAGACGAAGTCTTCAACAAA	0.348000										HNSCC(10;0.0054)			46	79					0	0	1	0	0
SLC38A2	54407	broad.mit.edu	37	12	46757763	46757763	+	Silent	SNP	C	C	G			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr12:46757763C>G	ENST00000256689.5	-	11	1341	c.897G>C	c.(895-897)ctG>ctC	p.L299L	SLC38A2_ENST00000551374.1_Silent_p.L137L	NM_018976.4	NP_061849.2	Q96QD8	S38A2_HUMAN	solute carrier family 38, member 2	299					cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity	p.L299L(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	18	Lung SC(27;0.192)|Renal(347;0.236)		OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)		ATGAAAAGATCAGAATTGGCA	0.328000													14	30					0	0	1	0	0
FAM214A	56204	broad.mit.edu	37	15	52877000	52877000	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr15:52877000T>G	ENST00000261844.7	-	12	3171	c.3019A>C	c.(3019-3021)Aat>Cat	p.N1007H	FAM214A_ENST00000546305.2_Missense_Mutation_p.N1014H|RP11-23N2.4_ENST00000562062.1_RNA	NM_019600.2	NP_062546.2	Q32MH5	K1370_HUMAN	family with sequence similarity 214, member A	1007								p.N1007H(1)									TTCTCTTTATTAACACTTCTC	0.348000													14	53					0	0	1	0	0
THTPA	0	broad.mit.edu	37	14	24027979	24027979	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr14:24027979G>A	ENST00000288014.6	+	2	1359	c.623G>A	c.(622-624)cGc>cAc	p.R208H	THTPA_ENST00000556015.1_3'UTR|RP11-66N24.4_ENST00000556354.1_RNA|RP11-66N24.4_ENST00000553985.1_RNA|THTPA_ENST00000554970.1_Missense_Mutation_p.R118H|RP11-66N24.4_ENST00000555446.1_RNA|THTPA_ENST00000554789.1_3'UTR|THTPA_ENST00000404535.3_Missense_Mutation_p.R208H			Q9BU02	THTPA_HUMAN	thiamine triphosphatase	208					dephosphorylation|generation of precursor metabolites and energy|thiamine metabolic process	cytosol|nucleolus|soluble fraction	thiamin-triphosphatase activity	p.R208H(1)		large_intestine(1)|prostate(2)	3	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00643)	Thiamine(DB00152)	GACTATCAGCGCCTGCTAGAA	0.547000											OREG0022604	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	80					0	0	1	0	0
ESRP1	54845	broad.mit.edu	37	8	95676990	95676990	+	Nonsense_Mutation	SNP	C	C	G			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr8:95676990C>G	ENST00000433389.2	+	7	900	c.710C>G	c.(709-711)tCa>tGa	p.S237*	ESRP1_ENST00000423620.2_Nonsense_Mutation_p.S237*|ESRP1_ENST00000358397.5_Nonsense_Mutation_p.S237*|ESRP1_ENST00000454170.2_Nonsense_Mutation_p.S237*	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	237	RRM 1.				mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding	p.S237*(2)	ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						TGGCAGTCTTCAGATCAAGAT	0.373000													32	96					0	0	1	0	0
ZNF556	80032	broad.mit.edu	37	19	2878237	2878237	+	Silent	SNP	C	C	T			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr19:2878237C>T	ENST00000586426.1	+	4	1365	c.1278C>T	c.(1276-1278)tgC>tgT	p.C426C	ZNF556_ENST00000307635.2_Silent_p.C427C			Q9HAH1	ZN556_HUMAN	zinc finger protein 556	427					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.C427C(4)		endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAGTAAATGCGAAAAATGTG	0.448000													5	192					0	0	1	0	0
SF3A1	10291	broad.mit.edu	37	22	30736751	30736751	+	Silent	SNP	T	T	C			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr22:30736751T>C	ENST00000439242.1	-	8	1058	c.927A>G	c.(925-927)acA>acG	p.T309T	SF3A1_ENST00000215793.7_Silent_p.T374T	NM_001005409.1	NP_001005409.1	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa	374					nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex	protein binding|RNA binding	p.T374T(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						GAGGCATGGGTGTCTCTGGGG	0.582000													59	112					0	0	1	0	0
INADL	10207	broad.mit.edu	37	1	62456031	62456031	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr1:62456031T>G	ENST00000371158.2	+	28	3976	c.3862T>G	c.(3862-3864)Tta>Gta	p.L1288V	INADL_ENST00000316485.6_Missense_Mutation_p.L1288V|INADL_ENST00000543708.1_Missense_Mutation_p.L72V|INADL_ENST00000545929.1_5'UTR	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1288	PDZ 7.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding	p.L1288V(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						AGATGAACTCTTAGAGGTGAG	0.443000													8	54					0	0	1	0	0
C12orf63	0	broad.mit.edu	37	12	97098576	97098576	+	Splice_Site	SNP	T	T	C			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr12:97098576T>C	ENST00000524981.3	+	14	1881		c.e14+2					Q6ZTY8	CL063_HUMAN										p.?(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						AATATACAGGTAAGGATAATA	0.284000													26	27					0	0	1	0	0
NYAP2	57624	broad.mit.edu	37	2	226447105	226447105	+	Silent	SNP	G	G	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr2:226447105G>A	ENST00000272907.6	+	4	1385	c.972G>A	c.(970-972)ccG>ccA	p.P324P	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	324	Pro-rich.							p.P324P(1)									ACATCCCTCCGCCCTTCCCCA	0.647000													8	40					0	0	1	0	0
PEG10	23089	broad.mit.edu	37	7	94293408	94293408	+	Silent	SNP	T	T	C			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr7:94293408T>C	ENST00000482108.1	+	2	1019	c.540T>C	c.(538-540)tcT>tcC	p.S180S	PEG10_ENST00000488574.1_Silent_p.S180S	NM_001040152.1|NM_001172438.1|NM_001184962.1	NP_001035242.1|NP_001165909.1|NP_001171891.1	Q86TG7	PEG10_HUMAN	paternally expressed 10	180	Necessary for interaction with ALK1.				apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	p.S180S(1)		NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1)	21	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			GCATGGGGTCTGTCATCGACT	0.547000													25	271					0	0	1	0	0
B3GNT3	10331	broad.mit.edu	37	19	17922668	17922668	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr19:17922668G>C	ENST00000318683.6	+	3	1003	c.856G>C	c.(856-858)Gct>Cct	p.A286P	B3GNT3_ENST00000595387.1_Missense_Mutation_p.A286P	NM_014256.3	NP_055071.2	Q9Y2A9	B3GN3_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3	286					protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity	p.A286P(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						CCTGCGCCGTGCTGCCCATGT	0.602000													32	114					0	0	1	0	0
TRIM74	378108	broad.mit.edu	37	7	72430608	72430608	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr7:72430608G>T	ENST00000285805.3	-	4	869	c.670C>A	c.(670-672)Caa>Aaa	p.Q224K	TRIM74_ENST00000395244.1_Missense_Mutation_p.Q224K	NM_198853.1	NP_942150.1	Q86UV6	TRI74_HUMAN	tripartite motif containing 74	224						intracellular	zinc ion binding	p.Q224K(1)		prostate(1)	1						CACTCGGCTTGGGCCAGCCGC	0.672000													5	80					0.0293803	0.0298504	1	1	0
USP2	9099	broad.mit.edu	37	11	119228895	119228895	+	Silent	SNP	G	G	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr11:119228895G>A	ENST00000260187.2	-	8	1599	c.1305C>T	c.(1303-1305)ttC>ttT	p.F435F	USP2_ENST00000525735.1_Silent_p.F226F|USP2_ENST00000455332.2_Silent_p.F192F	NM_004205.4	NP_004196.4	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2	435	Necessary for interaction with MDM4.				cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity	p.F435F(2)		breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		AGAAGGGGTCGAAGACCGTAG	0.517000													33	70					0	0	1	0	0
TLN1	7094	broad.mit.edu	37	9	35711265	35711265	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr9:35711265C>A	ENST00000314888.9	-	30	4359	c.4006G>T	c.(4006-4008)Gct>Tct	p.A1336S	TLN1_ENST00000540444.1_Missense_Mutation_p.A1336S	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	1336	Interaction with SYNM.				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding	p.A1336S(2)		NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GCAGCTGCAGCCAGCTGACTC	0.557000													4	65					5.18039e-06	5.57551e-06	1	1	0
NUP43	348995	broad.mit.edu	37	6	150048281	150048281	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr6:150048281G>A	ENST00000340413.2	-	8	1043	c.967C>T	c.(967-969)Cac>Tac	p.H323Y	NUP43_ENST00000367403.3_3'UTR|NUP43_ENST00000367404.4_Missense_Mutation_p.H227Y|NUP43_ENST00000460354.2_Missense_Mutation_p.H323Y	NM_198887.1	NP_942590.1	Q8NFH3	NUP43_HUMAN	nucleoporin 43kDa	323					carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	protein binding	p.H323Y(1)		breast(1)|large_intestine(2)|lung(8)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;4.71e-13)|GBM - Glioblastoma multiforme(68;0.101)		ACAGACTGGTGAACATTAGCT	0.393000													8	70					0	0	1	0	0
EMR2	30817	broad.mit.edu	37	19	14865794	14865794	+	Missense_Mutation	SNP	G	G	A	rs146763976		TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr19:14865794G>A	ENST00000315576.3	-	14	2013	c.1562C>T	c.(1561-1563)gCc>gTc	p.A521V	EMR2_ENST00000595839.1_Missense_Mutation_p.A379V|EMR2_ENST00000392967.2_Missense_Mutation_p.A510V|EMR2_ENST00000346057.1_Missense_Mutation_p.A472V|EMR2_ENST00000594294.1_Missense_Mutation_p.A472V|EMR2_ENST00000392965.3_Intron|EMR2_ENST00000601345.1_Missense_Mutation_p.A510V|EMR2_ENST00000353876.1_Missense_Mutation_p.A428V|EMR2_ENST00000594076.1_Missense_Mutation_p.A428V|EMR2_ENST00000596991.2_Missense_Mutation_p.A510V|EMR2_ENST00000392964.3_Silent_p.C185C|EMR2_ENST00000353005.1_Missense_Mutation_p.A379V	NM_013447.2	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	521	GPS.				cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.A521V(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						CATGAGGACGGCAAAGCTGCT	0.572000													5	103					0	0	1	0	0
TTC30B	150737	broad.mit.edu	37	2	178416809	178416809	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr2:178416809C>T	ENST00000408939.2	-	1	933	c.683G>A	c.(682-684)gGc>gAc	p.G228D		NM_152517.2	NP_689730.2	Q8N4P2	TT30B_HUMAN	tetratricopeptide repeat domain 30B	228					cell projection organization	cilium	binding	p.G228D(2)		cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			AGTGGTCATGCCCACACCTAG	0.522000													4	118					0	0	1	0	0
ADAM20	8748	broad.mit.edu	37	14	70989752	70989752	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr14:70989752G>C	ENST00000256389.3	-	2	2117	c.1873C>G	c.(1873-1875)Ctg>Gtg	p.L625V	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	575	Cys-rich.				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.L625V(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		TGCTCTATCAGATTGGGAATT	0.448000													3	131					0	0	1	0	0
MOXD1	26002	broad.mit.edu	37	6	132695782	132695782	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr6:132695782G>T	ENST00000367963.3	-	2	517	c.399C>A	c.(397-399)gaC>gaA	p.D133E	MOXD1_ENST00000336749.3_Missense_Mutation_p.D65E	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	133	DOMON.				catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity	p.D65E(1)|p.D133E(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		TTATACTCTTGTCATTTATGT	0.343000													61	156					6.07242e-22	6.94773e-22	1	1	0
KIAA1551	55196	broad.mit.edu	37	12	32135815	32135815	+	Silent	SNP	C	C	T			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr12:32135815C>T	ENST00000312561.4	+	4	2340	c.1926C>T	c.(1924-1926)ggC>ggT	p.G642G	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639.3			KIAA1551									p.G642G(1)									ATGTAAGTGGCAGGGTTTTGG	0.413000													30	47					0	0	1	0	0
CHSY3	337876	broad.mit.edu	37	5	129520761	129520761	+	Silent	SNP	A	A	G			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr5:129520761A>G	ENST00000305031.4	+	3	2284	c.1926A>G	c.(1924-1926)gaA>gaG	p.E642E		NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	642						Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	p.E642E(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		AGAACTTTGAAAACATGTGTC	0.403000													3	161					0	0	1	0	0
SLC22A16	85413	broad.mit.edu	37	6	110752470	110752470	+	Silent	SNP	C	C	T			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr6:110752470C>T	ENST00000368919.3	-	7	1491	c.1425G>A	c.(1423-1425)tcG>tcA	p.S475S	SLC22A16_ENST00000330550.4_Silent_p.S441S|SLC22A16_ENST00000439654.1_Silent_p.S475S	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	475					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity	p.S475S(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		CCACAGCCAGCGATCTGGAAA	0.587000													16	23					0	0	1	0	0
ADNP	23394	broad.mit.edu	37	20	49509965	49509965	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr20:49509965G>C	ENST00000396029.3	-	5	1853	c.1286C>G	c.(1285-1287)gCt>gGt	p.A429G	ADNP_ENST00000396032.3_Missense_Mutation_p.A429G|ADNP_ENST00000349014.3_Missense_Mutation_p.A429G|ADNP_ENST00000371602.4_Missense_Mutation_p.A429G	NM_015339.2	NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	429						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A429G(1)		NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						GGCAGCTGCAGCAGGTTTGGA	0.473000													64	154					0	0	1	0	0
GUCY2F	2986	broad.mit.edu	37	X	108718895	108718895	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chrX:108718895G>C	ENST00000218006.2	-	2	562	c.271C>G	c.(271-273)Ctg>Gtg	p.L91V		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	91					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	p.L91V(2)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						GAATAACTCAGGTCAAAAGAT	0.502000											OREG0019905	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	96	44					0	0	1	0	0
ATL2	64225	broad.mit.edu	37	2	38525644	38525644	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr2:38525644G>A	ENST00000378954.4	-	12	1275	c.1274C>T	c.(1273-1275)gCg>gTg	p.A425V	ATL2_ENST00000419554.2_Missense_Mutation_p.A425V|ATL2_ENST00000332337.4_Missense_Mutation_p.A407V|ATL2_ENST00000452935.2_Missense_Mutation_p.A407V|ATL2_ENST00000406122.1_Missense_Mutation_p.A254V|ATL2_ENST00000539122.1_Missense_Mutation_p.A254V|ATL2_ENST00000546051.1_Missense_Mutation_p.A254V|ATL2_ENST00000402054.1_Missense_Mutation_p.A254V	NM_001135673.1|NM_022374.2	NP_001129145.1|NP_071769.2	Q8NHH9	ATLA2_HUMAN	atlastin GTPase 2	425					endoplasmic reticulum organization|Golgi organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding	p.A425V(2)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22						TTGTTTTATCGCCACTTCCTT	0.428000													5	270					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186055463	186055463	+	Silent	SNP	T	T	G			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr1:186055463T>G	ENST00000271588.4	+	58	9199	c.8970T>G	c.(8968-8970)ggT>ggG	p.G2990G	HMCN1_ENST00000367492.2_Silent_p.G2990G	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2990	Ig-like C2-type 28.				response to stimulus|visual perception	basement membrane	calcium ion binding	p.G2990G(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AGGTCTCTGGTTTTCCACCTC	0.408000													27	114					0	0	1	0	0
BARD1	580	broad.mit.edu	37	2	215645851	215645851	+	Silent	SNP	G	G	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr2:215645851G>A	ENST00000260947.4	-	4	881	c.747C>T	c.(745-747)atC>atT	p.I249I	BARD1_ENST00000449967.2_Silent_p.I105I|BARD1_ENST00000471787.1_5'UTR	NM_000465.2	NP_000456.2	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	249					cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	p.I249I(2)		NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GAGGACTGGAGATAACAGATG	0.383000									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				54	115					0	0	1	0	0
ATG13	9776	broad.mit.edu	37	11	46670720	46670720	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr11:46670720G>A	ENST00000434074.1	+	5	993	c.304G>A	c.(304-306)Gaa>Aaa	p.E102K	ATG13_ENST00000451945.1_Missense_Mutation_p.E102K|ATG13_ENST00000529655.1_Missense_Mutation_p.E102K|ATG13_ENST00000530500.1_Missense_Mutation_p.E23K|ATG13_ENST00000528494.1_Missense_Mutation_p.E102K|ATG13_ENST00000524625.1_Missense_Mutation_p.E102K|ATG13_ENST00000526508.1_Missense_Mutation_p.E102K|ATG13_ENST00000312040.4_Missense_Mutation_p.E102K|ATG13_ENST00000359513.4_Missense_Mutation_p.E102K	NM_001205120.1	NP_001192049.1	O75143	ATG13_HUMAN	autophagy related 13	102					autophagic vacuole assembly	cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding	p.E102K(2)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	15						ATGGTGTCTTGAAATGAATGA	0.353000													37	88					0	0	1	0	0
TUBD1	51174	broad.mit.edu	37	17	57955539	57955539	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr17:57955539C>T	ENST00000325752.3	-	5	971	c.694G>A	c.(694-696)Gca>Aca	p.A232T	TUBD1_ENST00000394239.3_Missense_Mutation_p.A232T|TUBD1_ENST00000539018.1_Missense_Mutation_p.A16T|TUBD1_ENST00000376094.4_Missense_Mutation_p.A232T|TUBD1_ENST00000346141.6_Intron|TUBD1_ENST00000340993.6_Missense_Mutation_p.A232T|TUBD1_ENST00000592426.1_Missense_Mutation_p.A232T	NM_016261.3	NP_057345.2	Q9UJT1	TBD_HUMAN	tubulin, delta 1	232					cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis	centriole|microtubule|nucleus	GTP binding|GTPase activity|structural molecule activity	p.A232T(1)		NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)			AGCTGATGTGCGAGGACTTGA	0.418000													47	120					0	0	1	0	0
MYCBP2	23077	broad.mit.edu	37	13	77664342	77664342	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr13:77664342C>A	ENST00000407578.2	-	60	10690	c.10424G>T	c.(10423-10425)aGa>aTa	p.R3475I	MYCBP2_ENST00000357337.6_Missense_Mutation_p.R3437I|MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000544440.2_Missense_Mutation_p.R3437I	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	3437					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	p.R3437I(1)|p.R3475I(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TGAGTATGATCTTTGGAAGAC	0.388000													63	118					2.01871e-26	2.33069e-26	1	1	0
EIF4G1	1981	broad.mit.edu	37	3	184040943	184040943	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr3:184040943C>G	ENST00000342981.4	+	13	2416	c.2002C>G	c.(2002-2004)Cca>Gca	p.P668A	EIF4G1_ENST00000435046.2_Missense_Mutation_p.P472A|EIF4G1_ENST00000352767.3_Missense_Mutation_p.P675A|EIF4G1_ENST00000350481.5_Missense_Mutation_p.P504A|EIF4G1_ENST00000411531.1_Missense_Mutation_p.P628A|EIF4G1_ENST00000346169.2_Missense_Mutation_p.P668A|EIF4G1_ENST00000427845.1_Missense_Mutation_p.P581A|EIF4G1_ENST00000414031.1_Missense_Mutation_p.P628A|EIF4G1_ENST00000434061.2_Missense_Mutation_p.P472A|EIF4G1_ENST00000319274.6_Missense_Mutation_p.P668A|EIF4G1_ENST00000441154.1_Missense_Mutation_p.P504A|EIF4G1_ENST00000424196.1_Missense_Mutation_p.P675A|EIF4G1_ENST00000392537.2_Missense_Mutation_p.P581A|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000382330.3_Missense_Mutation_p.P675A	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	668	MIF4G.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	p.P668A(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGACTTCACTCCATCCTTTGC	0.607000													5	190					0	0	1	0	0
SEPT10	151011	broad.mit.edu	37	2	110301775	110301775	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr2:110301775C>A	ENST00000356688.4	-	12	1874	c.1559G>T	c.(1558-1560)gGt>gTt	p.G520V	SEPT10_ENST00000397712.2_3'UTR|SEPT10_ENST00000334001.6_3'UTR|SEPT10_ENST00000397714.2_3'UTR			Q9P0V9	SEP10_HUMAN	septin 10	0					cell cycle|cell division	septin complex	GTP binding			breast(2)|endometrium(3)|large_intestine(4)|lung(8)|prostate(1)	18						TGGCTGTTCACCAAATATAGA	0.333000													19	22					0.00074312	0.000779969	1	1	0
SEPT4	5414	broad.mit.edu	37	17	56598642	56598642	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr17:56598642G>A	ENST00000457347.2	-	10	1276	c.1132C>T	c.(1132-1134)Cga>Tga	p.R378*	SEPT4_ENST00000583114.1_Nonsense_Mutation_p.R216*|SEPT4_ENST00000580844.1_Nonsense_Mutation_p.R264*|SEPT4_ENST00000426861.1_3'UTR|SEPT4_ENST00000412945.3_Nonsense_Mutation_p.R355*|SEPT4_ENST00000393086.1_Nonsense_Mutation_p.R344*|SEPT4_ENST00000579371.1_Nonsense_Mutation_p.R264*|RP11-112H10.4_ENST00000580589.1_RNA|SEPT4_ENST00000317268.3_Nonsense_Mutation_p.R363*|SEPT4_ENST00000317256.6_Nonsense_Mutation_p.R344*	NM_001256782.1	NP_001243711.1	O43236	SEPT4_HUMAN	septin 4	363					apoptosis|cell cycle|cytokinesis|regulation of apoptosis	cytoskeleton|mitochondrion|nucleus	GTP binding|GTPase activity|protein binding|structural molecule activity	p.R363*(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	18	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGGTAGAGTCGACCCCGAACT	0.582000											OREG0024614	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	95					0	0	1	0	0
STK36	27148	broad.mit.edu	37	2	219538385	219538385	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr2:219538385C>T	ENST00000295709.3	+	3	401	c.122C>T	c.(121-123)tCa>tTa	p.S41L	STK36_ENST00000392105.3_Missense_Mutation_p.S41L|STK36_ENST00000392106.2_Missense_Mutation_p.S41L|STK36_ENST00000440309.1_Missense_Mutation_p.S41L	NM_015690.4	NP_056505.2	Q9NRP7	STK36_HUMAN	serine/threonine kinase 36	41	Protein kinase.				cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding	p.S41L(2)		biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		TTGGGGCGCTCAGAGAAGGAG	0.448000													20	39					0	0	1	0	0
RABEP1	9135	broad.mit.edu	37	17	5264856	5264856	+	Silent	SNP	A	A	G			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr17:5264856A>G	ENST00000262477.6	+	9	1673	c.1449A>G	c.(1447-1449)caA>caG	p.Q483Q	NUP88_ENST00000573169.1_5'UTR|RABEP1_ENST00000546142.2_Silent_p.Q483Q|RABEP1_ENST00000408982.2_Silent_p.Q483Q|RABEP1_ENST00000537505.1_Silent_p.Q440Q|RABEP1_ENST00000341923.6_Silent_p.Q483Q	NM_004703.4	NP_004694.2	Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	483					apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity	p.Q483Q(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						CACCAGAACAAGAAGAGACAG	0.478000													40	34					0	0	1	0	0
MFAP4	4239	broad.mit.edu	37	17	19288435	19288435	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr17:19288435G>A	ENST00000395592.2	-	5	640	c.569C>T	c.(568-570)gCa>gTa	p.A190V	MFAP4_ENST00000497081.2_Missense_Mutation_p.A191V|MFAP4_ENST00000299610.4_Missense_Mutation_p.A166V	NM_001198695.1	NP_001185624.1	P55083	MFAP4_HUMAN	microfibrillar-associated protein 4	166	Fibrinogen C-terminal.				cell adhesion|signal transduction	microfibril	receptor binding	p.A166V(1)		large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	10	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					CTCAAAGCCTGCCACAAAGAG	0.602000													34	37					0	0	1	0	0
KIRREL	55243	broad.mit.edu	37	1	158057827	158057827	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr1:158057827G>A	ENST00000368172.1	+	3	205	c.193G>A	c.(193-195)Gcc>Acc	p.A65T	KIRREL_ENST00000416935.2_Missense_Mutation_p.A167T|KIRREL_ENST00000359209.6_Missense_Mutation_p.A267T|KIRREL_ENST00000360089.4_Missense_Mutation_p.A103T|KIRREL_ENST00000368173.3_Missense_Mutation_p.A267T|KIRREL_ENST00000392272.2_Missense_Mutation_p.A164T			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	267	Ig-like C2-type 1.					integral to membrane		p.A103T(1)|p.A267T(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					GATTGAAGACGCCCACGAGAG	0.522000											OREG0013906	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	276					0	0	1	0	0
LRRC14	9684	broad.mit.edu	37	8	145746456	145746456	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr8:145746456T>G	ENST00000292524.1	+	4	1222	c.1076T>G	c.(1075-1077)cTg>cGg	p.L359R	LRRC14_ENST00000529022.1_Missense_Mutation_p.L359R	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	Q15048	LRC14_HUMAN	leucine rich repeat containing 14	359								p.L359R(1)		endometrium(1)|lung(3)|prostate(1)	5	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)			TTCCAGGGTCTGTTGCAGGCA	0.597000													21	46					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151932988	151932988	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr7:151932988T>A	ENST00000355193.2	-	16	2901	c.2683A>T	c.(2683-2685)Aga>Tga	p.R895*	KMT2C_ENST00000262189.6_Nonsense_Mutation_p.R895*					lysine (K)-specific methyltransferase 2C									p.R895*(2)									CCTCGAGGTCTCCGCTTTCCT	0.502000													4	104					0	0	1	0	0
PPEF2	5470	broad.mit.edu	37	4	76813115	76813115	+	Silent	SNP	G	G	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr4:76813115G>A	ENST00000286719.7	-	3	428	c.72C>T	c.(70-72)gcC>gcT	p.A24A	PPEF2_ENST00000510607.1_5'UTR	NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	24	IQ.				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity	p.A24A(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TCTGGATCAGGGCTGCTGCCT	0.607000													19	69					0	0	1	0	0
LINC00264	0	broad.mit.edu	37	10	26880266	26880266	+	RNA	SNP	G	G	A	rs138111133	by1000genomes	TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr10:26880266G>A	ENST00000412114.1	+	0	501					NR_026793.1																						ACCAAGCCCAGTGGACAGATG	0.443000													3	39					0	0	1	0	0
DPP6	1804	broad.mit.edu	37	7	154667617	154667617	+	Splice_Site	SNP	G	G	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr7:154667617G>A	ENST00000404039.1	+	20	2280	c.1691_splice	c.e20-1	p.D565_splice	DPP6_ENST00000377770.3_Splice_Site_p.D629_splice|DPP6_ENST00000332007.3_Splice_Site_p.D567_splice|DPP6_ENST00000427557.1_Splice_Site_p.D522_splice	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	629					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	p.D629N(1)|p.D565N(1)		NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			TCTTTCCAGGGATGGCACCCC	0.632000													5	13					0	0	1	0	0
CEP350	9857	broad.mit.edu	37	1	179989287	179989287	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr1:179989287C>G	ENST00000367607.3	+	12	2796	c.2378C>G	c.(2377-2379)aCt>aGt	p.T793S		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	793						centrosome|nucleus|spindle		p.T793S(2)		central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						AGGCCATTAACTTTTACACCT	0.378000													63	131					0	0	1	0	0
PFKP	5214	broad.mit.edu	37	10	3176719	3176719	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr10:3176719C>G	ENST00000381075.2	+	22	2267	c.2043C>G	c.(2041-2043)atC>atG	p.I681M	PFKP_ENST00000381125.4_Missense_Mutation_p.I689M|PFKP_ENST00000381072.1_Missense_Mutation_p.I107M	NM_001242339.1	NP_001229268.1	Q01813	K6PP_HUMAN	phosphofructokinase, platelet	689					glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding	p.I689M(2)|p.I681M(1)		breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		GAACCAAAATCTCTGCCAGAG	0.512000													82	212					0	0	1	0	0
ASAP1	50807	broad.mit.edu	37	8	131249205	131249205	+	Silent	SNP	C	C	G			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr8:131249205C>G	ENST00000357668.1	-	3	249	c.222G>C	c.(220-222)gtG>gtC	p.V74V	ASAP1_ENST00000518721.1_Silent_p.V74V			Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	74					cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	p.V74V(1)		breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						CAGACTTCTTCACTTTCTGAA	0.294000													20	67					0	0	1	0	0
GHR	2690	broad.mit.edu	37	5	42718930	42718930	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr5:42718930C>A	ENST00000230882.4	+	10	1511	c.1321C>A	c.(1321-1323)Cct>Act	p.P441T	GHR_ENST00000537449.1_Missense_Mutation_p.P254T|GHR_ENST00000357703.3_Missense_Mutation_p.P419T	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	441					2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding	p.P441T(1)		NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TGATGCTTGCCCTGCTACTCA	0.463000													4	83					0.00909568	0.00946845	1	1	0
THEMIS2	9473	broad.mit.edu	37	1	28208523	28208523	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr1:28208523G>T	ENST00000373921.3	+	4	692	c.688G>T	c.(688-690)Gac>Tac	p.D230Y	THEMIS2_ENST00000373927.3_Intron|THEMIS2_ENST00000328928.7_Missense_Mutation_p.D230Y|THEMIS2_ENST00000373925.1_Intron	NM_001105556.1	NP_001099026.1			thymocyte selection associated family member 2									p.D230Y(1)									CCTGGAGGTCGACGTGGAGGA	0.642000													25	66					9.39395e-14	1.03742e-13	1	1	0
DCSTAMP	81501	broad.mit.edu	37	8	105361522	105361522	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr8:105361522A>G	ENST00000297581.2	+	2	791	c.742A>G	c.(742-744)Acc>Gcc	p.T248A	DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000517991.1_Missense_Mutation_p.T248A	NM_030788.3	NP_110415.1	Q9H295	TM7S4_HUMAN	dendrocyte expressed seven transmembrane protein	248					osteoclast differentiation	cell surface|integral to membrane|plasma membrane		p.T248A(1)									CATCTACATCACCAGACAATT	0.488000													11	172					0	0	1	0	0
DNAJB11	51726	broad.mit.edu	37	3	186302301	186302301	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr3:186302301A>G	ENST00000439351.1	+	10	1864	c.935A>G	c.(934-936)aAc>aGc	p.N312S	DNAJB11_ENST00000265028.3_Missense_Mutation_p.N312S			Q9UBS4	DJB11_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 11	312					protein folding	endoplasmic reticulum lumen	heat shock protein binding	p.N312S(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2)	15	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)		TTTGACAACAACAATATCAAG	0.433000													25	39					0	0	1	0	0
EP400NL	347918	broad.mit.edu	37	12	132589578	132589578	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr12:132589578A>G	ENST00000376625.4	+	1	1039	c.1013A>G	c.(1012-1014)aAg>aGg	p.K338R	EP400NL_ENST00000392352.1_Missense_Mutation_p.K206R|EP400NL_ENST00000361109.5_Missense_Mutation_p.K185R|EP400NL_ENST00000443539.2_Missense_Mutation_p.K206R|EP400NL_ENST00000389560.2_Missense_Mutation_p.K269R					EP400 N-terminal like									p.K338R(2)		endometrium(1)|lung(1)|prostate(2)|urinary_tract(1)	5						AAGGTTCCCAAGAAGTTAGAG	0.607000													8	41					0	0	1	0	0
NAA20	51126	broad.mit.edu	37	20	20013297	20013297	+	Splice_Site	SNP	G	G	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr20:20013297G>A	ENST00000398602.2	+	5	1050	c.415_splice	c.e5+1	p.D139_splice	NAA20_ENST00000334982.4_Splice_Site_p.D151_splice|NAA20_ENST00000310450.4_Intron|NAA20_ENST00000484480.1_3'UTR	NM_181527.3	NP_852668.1	P61599	NAA20_HUMAN	N(alpha)-acetyltransferase 20, NatB catalytic subunit	151	N-acetyltransferase.					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity	p.D151N(1)		endometrium(3)|lung(2)|prostate(1)	6						GGACGCTTATGGTAAGCTCCC	0.408000													10	77					0	0	1	0	0
OR7A5	26659	broad.mit.edu	37	19	14938095	14938095	+	Nonstop_Mutation	SNP	C	C	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr19:14938095C>A	ENST00000322301.3	-	2	1046	c.959G>T	c.(958-960)tGa>tTa	p.*320L	OR7A5_ENST00000601611.1_Intron|OR7A5_ENST00000594432.1_Nonstop_Mutation_p.*320L			Q15622	OR7A5_HUMAN	olfactory receptor, family 7, subfamily A, member 5	0					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.*320L(1)		breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						GCCCTGCAATCATGGGCACTT	0.383000													63	132					2.89935e-36	3.44129e-36	1	1	0
KCND3	3752	broad.mit.edu	37	1	112318709	112318709	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr1:112318709G>C	ENST00000369697.1	-	6	1970	c.1901C>G	c.(1900-1902)tCc>tGc	p.S634C	KCND3_ENST00000302127.4_Missense_Mutation_p.S634C|KCND3_ENST00000315987.2_Missense_Mutation_p.S653C			Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	653						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding	p.S634C(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		TTACAAGGCGGAGACCTTGAC	0.612000													29	82					0	0	1	0	0
GNB5	0	broad.mit.edu	37	15	52433404	52433404	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr15:52433404T>C	ENST00000261837.7	-	7	625	c.560A>G	c.(559-561)aAa>aGa	p.K187R	GNB5_ENST00000358784.7_Missense_Mutation_p.K145R|GNB5_ENST00000396335.4_Intron	NM_016194.3	NP_057278.2	O14775	GBB5_HUMAN	guanine nucleotide binding protein (G protein), beta 5	187						heterotrimeric G-protein complex	GTPase activity|signal transducer activity	p.K187R(1)		large_intestine(1)|lung(1)	2				all cancers(107;0.0163)		AGACTTCTTTTTGGCAGCCAT	0.453000													49	80					0	0	1	0	0
NUP107	57122	broad.mit.edu	37	12	69094533	69094533	+	Silent	SNP	C	C	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr12:69094533C>A	ENST00000229179.4	+	7	912	c.580C>A	c.(580-582)Cga>Aga	p.R194R	NUP107_ENST00000539906.1_Silent_p.R165R|NUP107_ENST00000378905.2_Silent_p.R43R	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	194					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	p.R194R(1)	NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			AATAGTGAGTCGAGCAACACC	0.363000													32	67					3.99451e-17	4.4894e-17	1	1	0
SPATA31C1	0	broad.mit.edu	37	9	90535282	90535282	+	RNA	SNP	A	A	G			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr9:90535282A>G	ENST00000602681.1	+	0	1186																											TCATGAGCCTATGGAAGATGC	0.582000													4	226					0	0	1	0	0
IFI16	3428	broad.mit.edu	37	1	159021757	159021757	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr1:159021757G>A	ENST00000295809.7	+	10	2209	c.1954G>A	c.(1954-1956)Gat>Aat	p.D652N	IFI16_ENST00000430894.2_Missense_Mutation_p.D600N|IFI16_ENST00000448393.2_Missense_Mutation_p.D540N|IFI16_ENST00000368132.3_Missense_Mutation_p.D596N|IFI16_ENST00000368131.4_Missense_Mutation_p.D596N|IFI16_ENST00000359709.3_Missense_Mutation_p.D596N|IFI16_ENST00000340979.6_Missense_Mutation_p.D540N			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	652	HIN-200 2.				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding	p.D596N(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					ACTTGTGGCTGATGTGAATGC	0.428000													7	180					0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23909862	23909862	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr13:23909862G>C	ENST00000382298.3	-	10	8741	c.8153C>G	c.(8152-8154)gCa>gGa	p.A2718G	SACS_ENST00000402364.1_Missense_Mutation_p.A1968G|SACS_ENST00000382292.3_Missense_Mutation_p.A2718G	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	2718					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	p.A2571G(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TCTGTCTGATGCTGGAACAGA	0.378000													55	128					0	0	1	0	0
DUOX2	50506	broad.mit.edu	37	15	45404890	45404890	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr15:45404890C>G	ENST00000389039.6	-	4	572	c.187G>C	c.(187-189)Gcc>Ccc	p.A63P	DUOX2_ENST00000603300.1_Missense_Mutation_p.A63P			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	63	Peroxidase-like; mediates peroxidase activity (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity	p.A63P(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		GCGTAATTGGCTGGTACGCGG	0.682000													18	28					0	0	1	0	0
KRTAP10-1	386677	broad.mit.edu	37	21	45959620	45959620	+	Silent	SNP	C	C	T			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr21:45959620C>T	ENST00000400375.1	-	1	458	c.414G>A	c.(412-414)caG>caA	p.Q138Q	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198691.2	NP_941964.2	P60331	KR101_HUMAN	keratin associated protein 10-1	138	24 X 5 AA repeats of C-C-X(3).					keratin filament		p.Q138Q(1)		breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1)	11						AGCAGGACTGCTGGCTGGAGG	0.582000													33	26					0	0	1	0	0
RINT1	60561	broad.mit.edu	37	7	105190573	105190573	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr7:105190573G>C	ENST00000257700.2	+	8	1299	c.1068G>C	c.(1066-1068)caG>caC	p.Q356H		NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	356	RINT1/TIP20.				cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding	p.Q356H(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						AGAAGATTCAGCCAATATTAG	0.378000													8	117					0	0	1	0	0
KIF16B	55614	broad.mit.edu	37	20	16360552	16360552	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr20:16360552C>A	ENST00000354981.2	-	19	2252	c.2095G>T	c.(2095-2097)Gaa>Taa	p.E699*	KIF16B_ENST00000408042.1_Nonsense_Mutation_p.E699*|KIF16B_ENST00000355755.3_Nonsense_Mutation_p.E699*|KIF16B_ENST00000378003.2_5'UTR	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	699	Glu-rich.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	p.E699*(2)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						AAGGTCTCTTCTTCTTGTCTC	0.448000													76	184					1.77355e-41	2.12492e-41	1	1	0
KCTD10	83892	broad.mit.edu	37	12	109898479	109898479	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr12:109898479C>G	ENST00000228495.6	-	3	630	c.349G>C	c.(349-351)Gtc>Ctc	p.V117L	KCTD10_ENST00000540411.1_Missense_Mutation_p.V114L|KCTD10_ENST00000538161.1_5'UTR|KCTD10_ENST00000424763.2_Intron	NM_031954.3	NP_114160.1	Q9H3F6	BACD3_HUMAN	potassium channel tetramerization domain containing 10	117					proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	Cul3-RING ubiquitin ligase complex|cytoplasm|nucleus|voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.V117L(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	10						AGGCCTTGGACTAGGTAGTAC	0.577000													28	140					0	0	1	0	0
ZZZ3	26009	broad.mit.edu	37	1	78098722	78098723	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr1:78098722_78098723delTC	ENST00000370801.3	-	5	792_793	c.317_318delGA	c.(316-318)afs	p.R107fs	ZZZ3_ENST00000370798.1_Intron	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	107					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						CTGTTTGCCTTCTCTCACAATT	0.391													117	268	---	---	---	---					
RP11-85M11.2	0	broad.mit.edu	37	3	165320296	165320297	+	RNA	DEL	TA	TA	-			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr3:165320296_165320297delTA	ENST00000496693.1	+	0	508																											TGTTGTAACTTACCCTTCTGCC	0.391													44	127	---	---	---	---					
FXR1	0	broad.mit.edu	37	3	180675619	180675620	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr3:180675619_180675620insA	ENST00000357559.4	+	10	1277_1278	c.893_894insA	c.(892-894)gaafs	p.E298fs	FXR1_ENST00000445140.2_Frame_Shift_Ins_p.E298fs|FXR1_ENST00000480918.1_Frame_Shift_Ins_p.E285fs|FXR1_ENST00000305586.7_Frame_Shift_Ins_p.E213fs|FXR1_ENST00000491062.1_Frame_Shift_Ins_p.E249fs|FXR1_ENST00000468861.1_Frame_Shift_Ins_p.E213fs	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	298	KH 2.				apoptosis|cell differentiation|muscle organ development	nucleolus|polysome				breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			AAAGTAATTGGAAAAAATGGCA	0.342													41	89	---	---	---	---					
SERINC1	57515	broad.mit.edu	37	6	122768119	122768119	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr6:122768119delA	ENST00000368454.1	-	11	1355	c.1026delT	c.(1024-1026)aafs	p.N342fs	SERINC1_ENST00000339697.3_Frame_Shift_Del_p.N342fs			Q9NRX5	SERC1_HUMAN	serine incorporator 1	342					phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	L-serine transmembrane transporter activity|protein binding			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(1)	13				GBM - Glioblastoma multiforme(226;0.126)		GAGTCAGTTTATTAACCTGAC	0.363													58	116	---	---	---	---					
LINGO2	158038	broad.mit.edu	37	9	27949103	27949103	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr9:27949103delC	ENST00000379992.2	-	6	2016	c.1567delG	c.(1567-1569)acfs	p.D523fs	LINGO2_ENST00000308675.3_Frame_Shift_Del_p.D523fs	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	523						integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		GAAATGGTGTCATTGGAGTCG	0.458													7	325	---	---	---	---					
ANKRD20A4	728747	broad.mit.edu	37	9	69423761	69423762	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr9:69423761_69423762insA	ENST00000357336.3	+	15	2338_2339	c.2057_2058insA	c.(2056-2058)aaafs	p.K686fs		NM_001098805.1	NP_001092275.1	Q4UJ75	A20A4_HUMAN	ankyrin repeat domain 20 family, member A4	686										breast(1)|large_intestine(1)|liver(1)|lung(9)|pancreas(2)|skin(2)	16						GATAGTCTCAGAAAAAAGTCAT	0.337													7	174	---	---	---	---					
DCLRE1C	64421	broad.mit.edu	37	10	14951253	14951253	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr10:14951253delA	ENST00000453695.2	-	14	1317	c.873delT	c.(871-873)ttfs	p.F291fs	DCLRE1C_ENST00000378258.1_Frame_Shift_Del_p.F291fs|DCLRE1C_ENST00000378242.1_Frame_Shift_Del_p.F64fs|DCLRE1C_ENST00000378289.4_Intron|DCLRE1C_ENST00000492201.1_5'UTR|DCLRE1C_ENST00000378246.2_Frame_Shift_Del_p.F296fs|DCLRE1C_ENST00000378254.1_Frame_Shift_Del_p.F291fs|DCLRE1C_ENST00000396817.2_Frame_Shift_Del_p.F291fs|DCLRE1C_ENST00000378249.1_Frame_Shift_Del_p.F296fs|DCLRE1C_ENST00000357717.2_Frame_Shift_Del_p.F296fs|DCLRE1C_ENST00000378278.2_Frame_Shift_Del_p.F411fs|DCLRE1C_ENST00000378255.1_Frame_Shift_Del_p.F291fs	NM_001033855.1	NP_001029027.1	Q96SD1	DCR1C_HUMAN	DNA cross-link repair 1C	411					DNA recombination	nucleus	5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						CCTCAGGGTGAAAAGTTTCCG	0.448								Non-homologous end-joining					17	112	---	---	---	---					
FAM111A	63901	broad.mit.edu	37	11	58920573	58920574	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr11:58920573_58920574insA	ENST00000528737.1	+	5	4250_4251	c.1432_1433insA	c.(1432-1434)aaafs	p.K478fs	FAM111A_ENST00000361723.3_Frame_Shift_Ins_p.K478fs|FAM111A_ENST00000533703.1_Frame_Shift_Ins_p.K478fs|FAM111A_ENST00000531147.1_Frame_Shift_Ins_p.K478fs|FAM111A_ENST00000420244.1_Frame_Shift_Ins_p.K478fs			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	478					proteolysis		serine-type endopeptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				TCCATATGGAGAAAAAAAGCAG	0.406													72	165	---	---	---	---					
GANAB	23193	broad.mit.edu	37	11	62402415	62402416	+	Frame_Shift_Ins	INS	-	-	GGAC			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr11:62402415_62402416insGGAC	ENST00000346178.4	-	5	452_453	c.437_438insGTCC	c.(436-438)ctafs	p.L146fs	GANAB_ENST00000534422.1_5'UTR|GANAB_ENST00000540933.1_Frame_Shift_Ins_p.L49fs|GANAB_ENST00000356638.3_Frame_Shift_Ins_p.L146fs|GANAB_ENST00000534779.1_Frame_Shift_Ins_p.L32fs	NM_001278192.1|NM_198335.2	NP_001265121.1|NP_938149.2	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	146					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						TGATCTTGTAGGGTCCCTCAGC	0.480													46	136	---	---	---	---					
SLTM	79811	broad.mit.edu	37	15	59182525	59182526	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr15:59182525_59182526delTC	ENST00000380516.2	-	15	2120_2121	c.2033_2034delGA	c.(2032-2034)afs	p.R678fs	SLTM_ENST00000536328.1_Frame_Shift_Del_p.R247fs|AC025918.2_ENST00000452467.1_RNA	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	678	Arg/Glu-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CGCGTTCCATTCTCTCTCTCTC	0.431													7	392	---	---	---	---					
ROCK1	6093	broad.mit.edu	37	18	18690838	18690839	+	In_Frame_Ins	INS	-	-	AAA			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr18:18690838_18690839insAAA	ENST00000399799.1	-	1	973_974	c.33_34insTTT	c.(31-36)ttaaaa>ttTTTaaaa	p.11_12insF		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	11					actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					TCCATTTTTTCAAATCGAGTCT	0.485													43	140	---	---	---	---					
ZCCHC3	85364	broad.mit.edu	37	20	278688	278690	+	In_Frame_Del	DEL	CGG	CGG	-	rs63544660		TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr20:278688_278690delCGG	ENST00000382352.3	+	1	952_954	c.461_463delCGG	c.(460-465)ccg>c	p.PA154del		NM_033089.6	NP_149080.2	Q9NUD5	ZCHC3_HUMAN	zinc finger, CCHC domain containing 3	154							nucleic acid binding|zinc ion binding	p.A159delA(3)		endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8		all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			CAGGATGAgccggcggcggcggc	0.768													3	4	---	---	---	---					
NUDT11	0	broad.mit.edu	37	X	51239296	51239309	+	Translation_Start_Site	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-	rs78182391		TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	ENST00000375992.3	-	0	139_152					NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11							cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)			2	4	---	---	---	---					
