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
LDHAL6B	92483	broad.mit.edu	37	15	59499557	59499557	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr15:59499557C>A	ENST00000307144.4	+	1	516	c.418C>A	c.(418-420)Cta>Ata	p.L140I	MYO1E_ENST00000288235.4_Intron	NM_033195.2	NP_149972.1	Q9BYZ2	LDH6B_HUMAN	lactate dehydrogenase A-like 6B	140					glycolysis	cytoplasm	L-lactate dehydrogenase activity|protein binding			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)	10					NADH(DB00157)	AAACTCCAACCTAGTGATTAT	0.428000													75	78					3.41413e-29	5.15223e-29	0.870114	1	0
DCDC1	341019	broad.mit.edu	37	11	31312227	31312227	+	Missense_Mutation	SNP	A	A	C			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr11:31312227A>C	ENST00000597505.1	-	5	926	c.927T>G	c.(925-927)caT>caG	p.H309Q	DCDC1_ENST00000452803.1_Missense_Mutation_p.H309Q			P59894	DCDC1_HUMAN	doublecortin domain containing 1	309					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					CTGTAATCTCATGCCCATCCT	0.348000													32	41					0	0	0.760397	0	0
CHD7	55636	broad.mit.edu	37	8	61774827	61774827	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr8:61774827A>T	ENST00000423902.2	+	36	8382	c.7903A>T	c.(7903-7905)Aaa>Taa	p.K2635*	CHD7_ENST00000524602.1_Nonsense_Mutation_p.K586*	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2635					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			AAACCCTAATAAATTGGATAT	0.368000													11	14					0	0	0.387290	0	0
KCNU1	157855	broad.mit.edu	37	8	36698451	36698451	+	Splice_Site	SNP	C	C	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr8:36698451C>A	ENST00000399881.3	+	16	1670	c.1631_splice	c.e16-1	p.L545_splice		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	545	Segment S8.					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		CCTTCCCAGGCTCTGCTTTCT	0.463000													10	27					1.33987e-11	1.65984e-11	0.361761	1	0
FAM153A	285596	broad.mit.edu	37	5	177158588	177158588	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr5:177158588G>A	ENST00000440605.3	-	15	896	c.613C>T	c.(613-615)Cca>Tca	p.P205S	FAM153A_ENST00000510276.1_Missense_Mutation_p.P205S|FAM153A_ENST00000393518.3_Intron|FAM153A_ENST00000513554.1_Missense_Mutation_p.P73S	NM_173663.3	NP_775934.3	Q9UHL3	F153A_HUMAN	family with sequence similarity 153, member A	205										kidney(6)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|stomach(1)	11	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGCGTGGCTGGGTCCACCTGC	0.463000													31	17					0	0	0.796494	0	0
ZFHX4	79776	broad.mit.edu	37	8	77767876	77767876	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr8:77767876C>G	ENST00000521891.2	+	10	9167	c.8719C>G	c.(8719-8721)Ccg>Gcg	p.P2907A	ZFHX4_ENST00000518282.1_Missense_Mutation_p.P2881A|ZFHX4_ENST00000455469.2_Missense_Mutation_p.P2862A|ZFHX4_ENST00000050961.6_Missense_Mutation_p.P2862A	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2862						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CATAGCGGACCCGAGCTCCCC	0.502000										HNSCC(33;0.089)			21	28					0	0	0.608945	0	0
ZNF607	84775	broad.mit.edu	37	19	38189117	38189117	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr19:38189117G>T	ENST00000355202.4	-	5	2510	c.1915C>A	c.(1915-1917)Cat>Aat	p.H639N	CTD-2528L19.4_ENST00000586606.2_Intron|ZNF607_ENST00000395835.3_Missense_Mutation_p.H638N	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	639					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			CCATCAGCATGAACGCTTTCA	0.378000													61	67					1.45723e-30	2.22949e-30	0.870114	1	0
ARHGEF10	9639	broad.mit.edu	37	8	1844550	1844550	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr8:1844550A>G	ENST00000518288.1	+	15	1730	c.1567A>G	c.(1567-1569)Agc>Ggc	p.S523G	ARHGEF10_ENST00000398560.1_Missense_Mutation_p.S484G|ARHGEF10_ENST00000398564.1_Missense_Mutation_p.S523G|ARHGEF10_ENST00000262112.6_Missense_Mutation_p.S523G|ARHGEF10_ENST00000520359.1_Missense_Mutation_p.S460G|ARHGEF10_ENST00000349830.3_Missense_Mutation_p.S498G			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	523	DH.				centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		GAACAATTTCAGCACAGCCGT	0.403000													41	57					0	0	0.827153	0	0
UNC13C	440279	broad.mit.edu	37	15	54685309	54685309	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr15:54685309C>G	ENST00000545554.1	+	17	4777	c.4777C>G	c.(4777-4779)Ccc>Gcc	p.P1593A	UNC13C_ENST00000537900.1_Missense_Mutation_p.P1591A|UNC13C_ENST00000260323.11_Missense_Mutation_p.P1593A			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1593					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GGATTTTTGGCCCCAACTTAT	0.393000													29	35					0	0	0.740014	0	0
PCDHB3	56132	broad.mit.edu	37	5	140481614	140481614	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr5:140481614C>T	ENST00000231130.2	+	1	1381	c.1381C>T	c.(1381-1383)Cgc>Tgc	p.R461C	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		461	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTGTTCGTCCGCGAGAACAA	0.602000													113	111					0	0	0.870114	0	0
IQCB1	9657	broad.mit.edu	37	3	121547406	121547406	+	Silent	SNP	G	G	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr3:121547406G>A	ENST00000310864.6	-	4	388	c.174C>T	c.(172-174)ctC>ctT	p.L58L	IQCB1_ENST00000349820.6_Silent_p.L58L	NM_001023570.2	NP_001018864.2	Q15051	IQCB1_HUMAN	IQ motif containing B1	58					cilium assembly|maintenance of organ identity|photoreceptor cell maintenance	centrosome|photoreceptor connecting cilium	calmodulin binding			NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)	30				GBM - Glioblastoma multiforme(114;0.0983)		AATATTGAATGAGATCATAAC	0.328000													22	39					0	0	0.608945	0	0
SYNE2	23224	broad.mit.edu	37	14	64634322	64634322	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr14:64634322C>T	ENST00000357395.3	+	93	17169	c.6025C>T	c.(6025-6027)Ctt>Ttt	p.L2009F	SYNE2_ENST00000555002.1_Missense_Mutation_p.L2258F|SYNE2_ENST00000554584.1_Missense_Mutation_p.L5499F|SYNE2_ENST00000358025.3_Missense_Mutation_p.L5624F|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.L2009F|SYNE2_ENST00000344113.4_Missense_Mutation_p.L5624F			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5624					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GGCTAACAGCCTTCCTGAGCT	0.458000													18	44					0	0	0.539581	0	0
GSTO2	119391	broad.mit.edu	37	10	106037800	106037800	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr10:106037800C>T	ENST00000450629.2	+	4	920	c.292C>T	c.(292-294)Cca>Tca	p.P98S	GSTO2_ENST00000338595.2_Missense_Mutation_p.P98S|GSTO2_ENST00000369707.1_Missense_Mutation_p.P70S|GSTO2_ENST00000477078.2_3'UTR|GSTO2_ENST00000401888.2_Missense_Mutation_p.P98S|GSTO2_ENST00000429569.2_Missense_Mutation_p.P70S	NM_001191013.1	NP_001177942.1	Q9H4Y5	GSTO2_HUMAN	glutathione S-transferase omega 2	98	GST N-terminal.				water-soluble vitamin metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11		Colorectal(252;0.178)		Epithelial(162;1.14e-09)|all cancers(201;3.89e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0155)	Glutathione(DB00143)	TGATGCTTATCCAGGAAGGAA	0.408000													26	42					0	0	0.667858	0	0
MET	4233	broad.mit.edu	37	7	116397705	116397705	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr7:116397705C>G	ENST00000397752.3	+	8	2179	c.1979C>G	c.(1978-1980)aCa>aGa	p.T660R	MET_ENST00000436117.2_Missense_Mutation_p.T660R|MET_ENST00000318493.6_Missense_Mutation_p.T660R	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	660	IPT/TIG 2.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			CCTGTAATAACAAGTATTTCG	0.333000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				25	42					0	0	0.667858	0	0
RGS10	6001	broad.mit.edu	37	10	121275037	121275037	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr10:121275037T>C	ENST00000392865.1	-	4	403	c.341A>G	c.(340-342)cAg>cGg	p.Q114R	RGS10_ENST00000369101.3_Missense_Mutation_p.Q120R|RGS10_ENST00000469575.1_Intron|RGS10_ENST00000369103.2_Missense_Mutation_p.Q128R	NM_002925.3	NP_002916.1	O43665	RGS10_HUMAN	regulator of G-protein signaling 10	120	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|protein binding|signal transducer activity			breast(2)|large_intestine(1)|lung(3)	6		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.00105)|GBM - Glioblastoma multiforme(135;0.195)		CTGGAGTTTCTGGAACATCAG	0.512000													15	33					0	0	0.479597	0	0
LOC440040	440040	broad.mit.edu	37	11	49597924	49597924	+	RNA	SNP	G	G	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr11:49597924G>T	ENST00000527477.1	+	0	528																											TCTCTTTTCTGTTCATCACCA	0.512000													8	32					0.000157383	0.0001702	0.278610	1	0
PANK1	53354	broad.mit.edu	37	10	91404709	91404709	+	Silent	SNP	C	C	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr10:91404709C>T	ENST00000307534.4	-	1	506	c.351G>A	c.(349-351)gaG>gaA	p.E117E		NM_148977.2	NP_683878.1	Q8TE04	PANK1_HUMAN	pantothenate kinase 1	117					coenzyme A biosynthetic process|pantothenate metabolic process	cytosol|nucleus	ATP binding|pantothenate kinase activity			cervix(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	11					Bezafibrate(DB01393)	GGAGGTCATTCTCCGGCGTCT	0.741000													8	18					0	0	0.278610	0	0
SLC34A1	6569	broad.mit.edu	37	5	176824901	176824901	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr5:176824901C>T	ENST00000324417.5	+	13	1625	c.1534C>T	c.(1534-1536)Cgc>Tgc	p.R512C	SLC34A1_ENST00000513614.1_3'UTR	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1	512					phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGCCAAGTACCGCTGGTTTGC	0.607000													62	62					0	0	0.870114	0	0
PCDHB3	56132	broad.mit.edu	37	5	140480970	140480970	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr5:140480970T>A	ENST00000231130.2	+	1	737	c.737T>A	c.(736-738)cTc>cAc	p.L246H	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		246					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCACAGCCGCTCTATGAGGTT	0.493000													53	65					0	0	0.870114	0	0
GOLIM4	27333	broad.mit.edu	37	3	167813020	167813020	+	Silent	SNP	C	C	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr3:167813020C>A	ENST00000470487.1	-	1	743	c.54G>T	c.(52-54)ctG>ctT	p.L18L	GOLIM4_ENST00000309027.4_Silent_p.L18L	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	18					transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CGGTCAGCAGCAGCAGCGTCT	0.647000													11	19					2.27111e-07	2.5911e-07	0.411799	1	0
OR5F1	338674	broad.mit.edu	37	11	55762023	55762023	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr11:55762023G>C	ENST00000278409.1	-	1	78	c.79C>G	c.(79-81)Ctc>Gtc	p.L27V		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	27					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					AACAAAAAGAGGATAATCTGT	0.383000													34	45					0	0	0.760397	0	0
MYO7A	4647	broad.mit.edu	37	11	76853808	76853808	+	Silent	SNP	C	C	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr11:76853808C>A	ENST00000409709.3	+	3	344	c.72C>A	c.(70-72)atC>atA	p.I24I	MYO7A_ENST00000409893.1_Silent_p.I24I|MYO7A_ENST00000409619.2_Silent_p.I13I|MYO7A_ENST00000458637.2_Silent_p.I24I	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	24	Myosin head-like.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						ACGTGCCCATCGGGGCGGTGG	0.622000													3	11					0.00909568	0.00940737	0.150653	1	0
NDUFA13	51079	broad.mit.edu	37	19	19626988	19626988	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr19:19626988A>G	ENST00000252576.5	+	1	190	c.190A>G	c.(190-192)Atc>Gtc	p.I64V	NDUFA13_ENST00000507754.3_5'UTR	NM_015965.6	NP_057049.5			NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	12						CGCCACACTCATCATGGCGGT	0.632000													4	43					0	0	0.150653	0	0
PIK3R1	5295	broad.mit.edu	37	5	67575530	67575530	+	Silent	SNP	C	C	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr5:67575530C>T	ENST00000521381.1	+	5	1219	c.603C>T	c.(601-603)gcC>gcT	p.A201A	PIK3R1_ENST00000521657.1_Silent_p.A201A|PIK3R1_ENST00000274335.5_Silent_p.A201A|PIK3R1_ENST00000396611.1_Silent_p.A201A	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	201	Rho-GAP.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	TTCCAGCAGCCGTTTACAGTG	0.433000			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)			43	58					0	0	0.870114	0	0
SLC39A12	221074	broad.mit.edu	37	10	18270306	18270306	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr10:18270306G>C	ENST00000377369.2	+	6	1263	c.990G>C	c.(988-990)aaG>aaC	p.K330N	SLC39A12_ENST00000377374.4_Missense_Mutation_p.K330N|SLC39A12_ENST00000377371.3_Missense_Mutation_p.K330N|SLC39A12_ENST00000539911.1_Missense_Mutation_p.K196N	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	330					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						TCATTTCTAAGGAGGACTTTA	0.488000													26	60					0	0	0.681144	0	0
FLRT2	23768	broad.mit.edu	37	14	86088015	86088015	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr14:86088015A>T	ENST00000330753.4	+	2	924	c.157A>T	c.(157-159)Agc>Tgc	p.S53C	FLRT2_ENST00000554746.1_Missense_Mutation_p.S53C	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	53	LRRNT.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		TAATGAGCGAAGCTTGACCTC	0.512000													41	73					0	0	0.859065	0	0
NRXN3	9369	broad.mit.edu	37	14	79175866	79175866	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr14:79175866G>C	ENST00000554719.1	+	4	900	c.409G>C	c.(409-411)Gtg>Ctg	p.V137L	RP11-232C2.2_ENST00000555680.1_RNA|NRXN3_ENST00000335750.5_Missense_Mutation_p.V137L	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	141	Laminin G-like.				angiogenesis|cell adhesion	integral to membrane		p.V137M(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CTTCTTTGCCGTGGAACTCCT	0.507000													27	73					0	0	0.681144	0	0
GTF3C1	2975	broad.mit.edu	37	16	27518169	27518169	+	Splice_Site	SNP	C	C	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr16:27518169C>A	ENST00000356183.4	-	9	1566	c.1552_splice	c.e9+1	p.K517_splice	GTF3C1_ENST00000561623.1_Splice_Site_p.K517_splice	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	517						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GCTCCCTACCCTTGGTTGGGG	0.622000													4	3					8.12818e-05	8.81881e-05	0.248553	1	0
KRTAP6-1	337966	broad.mit.edu	37	21	31986046	31986046	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr21:31986046C>T	ENST00000329122.2	-	1	203	c.178G>A	c.(178-180)Ggc>Agc	p.G60S		NM_181602.1	NP_853633.1	Q3LI64	KRA61_HUMAN	keratin associated protein 6-1	60						cytosol|intermediate filament				breast(2)|endometrium(1)|lung(7)	10						CATCCATAGCCATAGCCACAG	0.562000													36	128					0	0	0.788014	0	0
APOBEC3G	60489	broad.mit.edu	37	22	39479766	39479766	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr22:39479766C>A	ENST00000407997.3	+	5	969	c.612C>A	c.(610-612)ttC>ttA	p.F204L	APOBEC3G_ENST00000461827.1_3'UTR|APOBEC3G_ENST00000452957.2_Missense_Mutation_p.F204L	NM_021822.3	NP_068594.1			apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G											central_nervous_system(1)|large_intestine(4)|lung(5)|skin(1)|stomach(1)	12	Melanoma(58;0.04)					CATTCACTTTCAACTTTAACA	0.547000													31	41					4.31634e-10	5.21099e-10	0.760397	1	0
SIRPB1	10326	broad.mit.edu	37	20	1585397	1585397	+	Missense_Mutation	SNP	T	T	C	rs148754551	by1000genomes	TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr20:1585397T>C	ENST00000279477.7	-	3	806	c.742A>G	c.(742-744)Acc>Gcc	p.T248A	SIRPB1_ENST00000381603.3_Intron|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000568365.1_Missense_Mutation_p.T248A|SIRPB1_ENST00000381605.4_Intron	NM_001135844.2	NP_001129316.1	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	248					cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding	p.T248A(5)		central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						CCTCGGATGGTCTCAGACAAG	0.627000													3	36					0	0	0.115264	0	0
PTPN14	5784	broad.mit.edu	37	1	214557195	214557195	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr1:214557195C>G	ENST00000366956.5	-	13	2197	c.2003G>C	c.(2002-2004)cGc>cCc	p.R668P	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	668					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		GAGCGTGTTGCGGCGAGCCAT	0.647000													14	29					0	0	0.500413	0	0
ADAM11	4185	broad.mit.edu	37	17	42853010	42853010	+	Missense_Mutation	SNP	T	T	G			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr17:42853010T>G	ENST00000200557.6	+	17	1620	c.1451T>G	c.(1450-1452)aTg>aGg	p.M484R	ADAM11_ENST00000535346.1_Missense_Mutation_p.M284R	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11	484	Disintegrin.				integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				CACGACGCCATGTGCAGCGAC	0.667000													4	3					0	0	0.184627	0	0
OR4F15	390649	broad.mit.edu	37	15	102358657	102358657	+	Missense_Mutation	SNP	A	A	C			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr15:102358657A>C	ENST00000332238.4	+	1	292	c.268A>C	c.(268-270)Aag>Cag	p.K90Q		NM_001001674.1	NP_001001674.1	Q8NGB8	O4F15_HUMAN	olfactory receptor, family 4, subfamily F, member 15	90					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(10)	19	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			CAAGAAGCACAAGGCCATCTC	0.453000													75	89					0	0	0.870114	0	0
C6orf222	389384	broad.mit.edu	37	6	36298043	36298043	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr6:36298043G>C	ENST00000437635.2	-	2	602	c.425C>G	c.(424-426)cCa>cGa	p.P142R		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	142										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						CCTGAGGGCTGGCTCCCCTGC	0.627000													40	62					0	0	0.827153	0	0
SPTBN5	51332	broad.mit.edu	37	15	42172497	42172497	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr15:42172497C>A	ENST00000320955.6	-	14	2899	c.2672G>T	c.(2671-2673)cGg>cTg	p.R891L		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	891					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CTCCTCCAACCGGGCCCTGCG	0.667000													8	11					0.000673444	0.000718918	0.361761	1	0
GTSE1	51512	broad.mit.edu	37	22	46712020	46712020	+	Silent	SNP	G	G	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr22:46712020G>T	ENST00000454366.1	+	7	1355	c.1143G>T	c.(1141-1143)ctG>ctT	p.L381L		NM_016426.6	NP_057510.4	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	362					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		CCGCCATGCTGCGGCCAGCTC	0.592000													26	37					5.71845e-15	7.5941e-15	0.812448	1	0
DPP3	10072	broad.mit.edu	37	11	66264796	66264796	+	Silent	SNP	C	C	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr11:66264796C>T	ENST00000532677.1	+	16	2184	c.1783C>T	c.(1783-1785)Ctg>Ttg	p.L595L	DPP3_ENST00000360510.2_Silent_p.L576L|DPP3_ENST00000531863.1_Silent_p.L596L|DPP3_ENST00000453114.1_Silent_p.L576L|DPP3_ENST00000530165.1_Silent_p.L546L|DPP3_ENST00000541961.1_Silent_p.L576L	NM_001256670.1|NM_005700.4|NM_130443.3	NP_001243599.1|NP_005691.2|NP_569710.2	Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	576					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						GTTTGTGATCCTGAGAGTCTT	0.617000													18	40					0	0	0.539581	0	0
TSC22D1	8848	broad.mit.edu	37	13	45149475	45149475	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr13:45149475T>A	ENST00000458659.2	-	1	1226	c.736A>T	c.(736-738)Agt>Tgt	p.S246C	TSC22D1_ENST00000501704.2_Missense_Mutation_p.S246C	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	246					transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		ATGGATGCACTGGCCACAGCA	0.517000													26	23					0	0	0.667858	0	0
LRP1B	53353	broad.mit.edu	37	2	141294160	141294160	+	Silent	SNP	C	C	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr2:141294160C>A	ENST00000389484.3	-	46	8603	c.7632G>T	c.(7630-7632)ctG>ctT	p.L2544L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2544	LDL-receptor class A 11.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CACAGTAGAGCAGTTTTTCAT	0.408000										TSP Lung(27;0.18)			51	65					4.86159e-25	7.14181e-25	0.870114	1	0
PCDHA7	56141	broad.mit.edu	37	5	140215502	140215502	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr5:140215502G>T	ENST00000525929.1	+	1	1534	c.1534G>T	c.(1534-1536)Gcg>Tcg	p.A512S	PCDHA7_ENST00000378125.3_Missense_Mutation_p.A512S|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCAGTGCACGCGGAGAGCGG	0.701000													76	96					3.83088e-25	5.65267e-25	0.870114	1	0
ZIC4	84107	broad.mit.edu	37	3	147108741	147108741	+	Silent	SNP	C	C	G			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr3:147108741C>G	ENST00000383075.3	-	4	1493	c.981G>C	c.(979-981)gcG>gcC	p.A327A	ZIC4_ENST00000525172.2_Silent_p.A377A|ZIC4_ENST00000484399.1_Silent_p.A327A|ZIC4_ENST00000491672.1_Silent_p.A121A|ZIC4_ENST00000473123.1_Silent_p.A327A|ZIC4_ENST00000472749.2_5'UTR|ZIC4_ENST00000425731.3_Silent_p.A365A	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	327						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						CGGCGGTACGCGCCGCCACCG	0.701000													10	14					0	0	0.387290	0	0
PPIP5K1	9677	broad.mit.edu	37	15	43827131	43827131	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr15:43827131T>A	ENST00000420765.1	-	31	4225	c.4043A>T	c.(4042-4044)aAg>aTg	p.K1348M	PPIP5K1_ENST00000381879.4_Missense_Mutation_p.K1324M|PPIP5K1_ENST00000360301.4_Missense_Mutation_p.K1323M|PPIP5K1_ENST00000360135.4_Missense_Mutation_p.K1321M|PPIP5K1_ENST00000348806.6_Missense_Mutation_p.K1321M|PPIP5K1_ENST00000381885.1_Missense_Mutation_p.K1344M|PPIP5K1_ENST00000334933.4_Missense_Mutation_p.K1323M|PPIP5K1_ENST00000396923.3_Missense_Mutation_p.K1348M	NM_001130858.2	NP_001124330.1	Q6PFW1	VIP1_HUMAN	diphosphoinositol pentakisphosphate kinase 1	1348					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			large_intestine(1)	1						ATGGACCAGCTTGCCAACCTC	0.552000													66	50					0	0	0.870114	0	0
GAL3ST3	89792	broad.mit.edu	37	11	65811010	65811010	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr11:65811010C>A	ENST00000312006.4	-	3	545	c.264G>T	c.(262-264)gaG>gaT	p.E88D	GAL3ST3_ENST00000527878.1_Missense_Mutation_p.E88D	NM_033036.2	NP_149025.1	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3	88					monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			kidney(1)|lung(9)|ovary(2)|skin(2)	14						GGTTGTGGCGCTCGGCAAAGC	0.662000													4	20					0.150653	0.152491	0.150653	1	0
FURIN	5045	broad.mit.edu	37	15	91421523	91421523	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr15:91421523G>T	ENST00000268171.3	+	8	1108	c.829G>T	c.(829-831)Ggg>Tgg	p.G277W		NM_002569.2	NP_002560.1	P09958	FURIN_HUMAN	furin (paired basic amino acid cleaving enzyme)	277					cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|Notch signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release	cell surface|Golgi lumen|Golgi membrane|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle	metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	36	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			CTTCTTCCGTGGGGTTAGCCA	0.587000													17	14					5.26018e-13	6.69111e-13	0.608945	1	0
ATP11A	23250	broad.mit.edu	37	13	113536255	113536255	+	Silent	SNP	A	A	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr13:113536255A>T	ENST00000375630.2	+	29	3541	c.3453A>T	c.(3451-3453)acA>acT	p.T1151T	ATP11A_ENST00000487903.1_3'UTR|ATP11A_ENST00000375645.3_3'UTR	NM_032189.3	NP_115565.3	P98196	AT11A_HUMAN	ATPase, class VI, type 11A	0					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				AGCAGGTGACACTCGCGGCCT	0.632000													27	46					0	0	0.693898	0	0
ZEB1	6935	broad.mit.edu	37	10	31810827	31810827	+	Missense_Mutation	SNP	A	A	C			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr10:31810827A>C	ENST00000446923.2	+	7	2907	c.2516A>C	c.(2515-2517)gAa>gCa	p.E839A	ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000542815.3_Missense_Mutation_p.E788A|ZEB1_ENST00000320985.10_Missense_Mutation_p.E855A|ZEB1_ENST00000361642.5_Missense_Mutation_p.E856A|ZEB1_ENST00000560721.2_Missense_Mutation_p.E835A	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	855					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				GCAGTCCAAGAACCACCCTTG	0.438000													26	52					0	0	0.706142	0	0
ITLN1	55600	broad.mit.edu	37	1	160849122	160849122	+	Silent	SNP	G	G	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr1:160849122G>T	ENST00000326245.3	-	7	883	c.768C>A	c.(766-768)gtC>gtA	p.V256V	ITLN1_ENST00000487531.1_5'UTR	NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	intelectin 1 (galactofuranose binding)	256					positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TACATCCGGTGACCCTCATTC	0.507000													46	88					8.72198e-27	1.29852e-26	0.870114	1	0
TTN	7273	broad.mit.edu	37	2	179584097	179584097	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr2:179584097C>A	ENST00000589042.1	-	83	24244	c.24020G>T	c.(24019-24021)cGa>cTa	p.R8007L	TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.R6763L|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.R7690L|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7690	Ig-like 62.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCCAGAGACTCGGCACTCCAA	0.517000													31	95					1.08312e-15	1.47375e-15	0.740014	1	0
OR51D1	390038	broad.mit.edu	37	11	4661103	4661103	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr11:4661103G>A	ENST00000357605.2	+	1	159	c.83G>A	c.(82-84)gGt>gAt	p.G28D		NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, member 1	28					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTTTTGGTGGGTATCCCTGGC	0.512000													63	68					0	0	0.870114	0	0
DCLK3	85443	broad.mit.edu	37	3	36779060	36779060	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr3:36779060T>C	ENST00000416516.2	-	2	1581	c.1091A>G	c.(1090-1092)gAt>gGt	p.D364G		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	364	Protein kinase.					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						AAAGTTCCCATCCCCAATGAC	0.577000													19	56					0	0	0.592651	0	0
ESPNP	284729	broad.mit.edu	37	1	17023143	17023143	+	RNA	SNP	C	C	T	rs559507	by1000genomes	TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr1:17023143C>T	ENST00000492551.1	-	0	1720					NR_026567.1																						TGTGGGGCTCCGGACTGGTAA	0.692000													9	41					0	0	0.307466	0	0
ZNF536	9745	broad.mit.edu	37	19	31040381	31040381	+	Silent	SNP	C	C	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr19:31040381C>T	ENST00000355537.3	+	4	4002	c.3855C>T	c.(3853-3855)agC>agT	p.S1285S		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1285					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TTGCAAGTAGCACAGCAAATT	0.493000													41	59					0	0	0.840704	0	0
RYR2	6262	broad.mit.edu	37	1	237947838	237947838	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr1:237947838G>T	ENST00000366574.2	+	90	13143	c.12826G>T	c.(12826-12828)Gtg>Ttg	p.V4276L	RYR2_ENST00000542537.1_Missense_Mutation_p.V4260L|RYR2_ENST00000360064.6_Missense_Mutation_p.V4282L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4276					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.V4274L(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AAAGATGACCGTGAAGGACAT	0.468000													23	26					1.96895e-08	2.27767e-08	0.639603	1	0
CPXM1	56265	broad.mit.edu	37	20	2774857	2774857	+	Silent	SNP	C	C	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr20:2774857C>A	ENST00000380605.2	-	14	2248	c.2184G>T	c.(2182-2184)cgG>cgT	p.R728R		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	728					cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						GTCCCCTTAGCCGCTCCAGGC	0.612000													29	69					2.08457e-15	2.79063e-15	0.750413	1	0
PAIP1	10605	broad.mit.edu	37	5	43537010	43537010	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr5:43537010T>A	ENST00000306846.3	-	6	1115	c.883A>T	c.(883-885)Att>Ttt	p.I295F	PAIP1_ENST00000514514.1_Missense_Mutation_p.I216F|PAIP1_ENST00000436644.2_Missense_Mutation_p.I216F|PAIP1_ENST00000338972.4_Missense_Mutation_p.I183F	NM_006451.4|NM_182789.3	NP_006442.2|NP_877590.1	Q9H074	PAIP1_HUMAN	poly(A) binding protein interacting protein 1	295	MIF4G.				mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation	cytosol	protein binding|RNA binding|translation activator activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Lung NSC(6;2.07e-05)					ACCTGAAGAATATCTGCTCTT	0.338000													6	65					0	0	0.248553	0	0
PMF1	11243	broad.mit.edu	37	1	156203520	156203520	+	Splice_Site	SNP	G	G	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr1:156203520G>T	ENST00000368277.3	+	3	377		c.e3+1		PMF1_ENST00000368273.4_Splice_Site|PMF1_ENST00000368279.3_Splice_Site|PMF1-BGLAP_ENST00000320139.5_Splice_Site|PMF1-BGLAP_ENST00000368276.4_Splice_Site|PMF1_ENST00000567140.1_Splice_Site|PMF1_ENST00000565805.1_Splice_Site|PMF1-BGLAP_ENST00000490491.1_Splice_Site	NM_007221.3	NP_009152.2			polyamine-modulated factor 1											kidney(1)|large_intestine(2)|lung(3)	6	Hepatocellular(266;0.158)					AGCCAGCCTGGTGAGAGTGGG	0.468000													52	87					1.30916e-28	1.95785e-28	0.870114	1	0
IL2	3558	broad.mit.edu	37	4	123377319	123377319	+	Nonsense_Mutation	SNP	T	T	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr4:123377319T>A	ENST00000226730.4	-	2	471	c.187A>T	c.(187-189)Aag>Tag	p.K63*		NM_000586.3	NP_000577.2	P60568	IL2_HUMAN	interleukin 2	63					anti-apoptosis|cell adhesion|cell-cell signaling|immune response|natural killer cell activation|negative regulation of B cell apoptosis|positive regulation of activated T cell proliferation|positive regulation of B cell proliferation|positive regulation of cell growth|positive regulation of interleukin-17 production|positive regulation of tyrosine phosphorylation of Stat5 protein|T cell differentiation	extracellular space	cytokine activity|growth factor activity|interleukin-2 receptor binding|kinase activator activity			endometrium(2)|large_intestine(4)|lung(6)|skin(1)	13				LUSC - Lung squamous cell carcinoma(721;0.185)		ATGTAAAACTTAAATGTGAGC	0.284000			T	TNFRSF17	intestinal T-cell lymphoma								15	41					0	0	0.479597	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													4	76					0	0	0.150653	0	0
SNX7	51375	broad.mit.edu	37	1	99203889	99203889	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr1:99203889G>T	ENST00000306121.3	+	8	1231	c.1222G>T	c.(1222-1224)Gat>Tat	p.D408Y	SNX7_ENST00000370189.5_Intron|SNX7_ENST00000529992.1_Missense_Mutation_p.D353Y	NM_015976.4	NP_057060.2	Q9UNH6	SNX7_HUMAN	sorting nexin 7	344					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	13		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)		Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234)		TATGCAAAATGATATCAAGTT	0.338000													25	79					4.87955e-14	6.35299e-14	0.693898	1	0
TRIM51HP	440041	broad.mit.edu	37	11	55065640	55065640	+	RNA	SNP	G	G	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr11:55065640G>T	ENST00000526016.1	-	0	68					NR_038174.2																						AAACAGGGCCGGCAAAAGCTG	0.493000													25	51					3.08376e-08	3.55489e-08	0.654019	1	0
SLC12A7	10723	broad.mit.edu	37	5	1064054	1064054	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr5:1064054C>A	ENST00000264930.5	-	20	2687	c.2644G>T	c.(2644-2646)Gcc>Tcc	p.A882S		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	882					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	TCCACCTGGGCCACGGTGAAG	0.627000													23	40					4.16121e-05	4.54448e-05	0.639603	1	0
NUP98	4928	broad.mit.edu	37	11	3714511	3714511	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr11:3714511G>T	ENST00000324932.7	-	27	4682	c.4262C>A	c.(4261-4263)cCa>cAa	p.P1421Q	NUP98_ENST00000355260.3_Missense_Mutation_p.P1421Q|NUP98_ENST00000359171.4_Missense_Mutation_p.P1421Q	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	1438					carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		GGAGGCTGTTGGTGGAAGCAA	0.463000			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML								50	115					7.77372e-23	1.13695e-22	0.870114	1	0
PTPRD	5789	broad.mit.edu	37	9	8340442	8340442	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr9:8340442C>A	ENST00000381196.4	-	39	5697	c.5154G>T	c.(5152-5154)caG>caT	p.Q1718H	PTPRD_ENST00000540109.1_Missense_Mutation_p.Q1718H|PTPRD_ENST00000397617.3_Missense_Mutation_p.Q1311H|PTPRD_ENST00000358503.5_Missense_Mutation_p.Q1696H|PTPRD_ENST00000360074.4_Missense_Mutation_p.Q1705H|PTPRD_ENST00000355233.5_Missense_Mutation_p.Q1312H|PTPRD_ENST00000397611.3_Missense_Mutation_p.Q1308H|PTPRD_ENST00000397606.3_Missense_Mutation_p.Q1311H|PTPRD_ENST00000486161.1_Missense_Mutation_p.Q1311H|PTPRD_ENST00000537002.1_Missense_Mutation_p.Q1308H|PTPRD_ENST00000356435.5_Missense_Mutation_p.Q1718H	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1718	Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CCAAGGGCCCCTGGGTAGCGA	0.458000										TSP Lung(15;0.13)			25	22					0.00047179	0.000508553	0.654019	1	0
KIF21A	55605	broad.mit.edu	37	12	39734815	39734815	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr12:39734815T>A	ENST00000395670.3	-	15	2422	c.2003A>T	c.(2002-2004)cAg>cTg	p.Q668L	KIF21A_ENST00000361418.5_Missense_Mutation_p.Q668L|KIF21A_ENST00000541463.2_Missense_Mutation_p.Q655L|KIF21A_ENST00000361961.3_Missense_Mutation_p.Q655L|KIF21A_ENST00000544797.2_Missense_Mutation_p.Q655L			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	668					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				CAGTCTTTTCTGGCTGTTTTC	0.363000													14	12					0	0	0.457914	0	0
ANKRD55	79722	broad.mit.edu	37	5	55472081	55472081	+	Silent	SNP	A	A	G			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr5:55472081A>G	ENST00000341048.4	-	4	361	c.210T>C	c.(208-210)tcT>tcC	p.S70S	ANKRD55_ENST00000513241.2_Silent_p.S41S|ANKRD55_ENST00000504958.2_Silent_p.S70S	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55	69										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				CTTGACGTCCAGAAACCGCAT	0.493000													42	108					0	0	0.853193	0	0
SULT1C3	442038	broad.mit.edu	37	2	108881780	108881780	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr2:108881780C>A	ENST00000329106.2	+	7	888	c.888C>A	c.(886-888)agC>agA	p.S296R		NM_001008743.1	NP_001008743.1	Q6IMI6	ST1C3_HUMAN	sulfotransferase family, cytosolic, 1C, member 3	296						cytoplasm	alcohol sulfotransferase activity			breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						TGGCAGGAAGCACCCTAACCT	0.463000													18	43					9.16793e-09	1.07174e-08	0.520397	1	0
SLC18A2	6571	broad.mit.edu	37	10	119013583	119013583	+	Missense_Mutation	SNP	C	C	A	rs11568719		TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr10:119013583C>A	ENST00000298472.5	+	5	691	c.548C>A	c.(547-549)gCc>gAc	p.A183D	SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	183					neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)	AGCAGCTATGCCTTCCTGCTG	0.592000													66	103					2.02627e-32	3.17322e-32	0.870114	1	0
PRDM9	56979	broad.mit.edu	37	5	23527869	23527869	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr5:23527869G>T	ENST00000296682.3	+	11	2854	c.2672G>T	c.(2671-2673)aGg>aTg	p.R891M		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	891					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TACGTCTGCAGGGAGGATGAG	0.522000										HNSCC(3;0.000094)			17	47					7.05477e-17	9.63861e-17	0.520397	1	0
RYR2	6262	broad.mit.edu	37	1	237880547	237880547	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr1:237880547G>C	ENST00000366574.2	+	72	10690	c.10373G>C	c.(10372-10374)cGg>cCg	p.R3458P	RYR2_ENST00000542537.1_Missense_Mutation_p.R3442P|RYR2_ENST00000360064.6_Missense_Mutation_p.R3456P	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3458					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.R3456L(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AAAGGAGATCGGTATTCCATG	0.493000													19	12					0	0	0.608945	0	0
FHOD3	80206	broad.mit.edu	37	18	34320650	34320650	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr18:34320650A>T	ENST00000257209.4	+	18	3205	c.3083A>T	c.(3082-3084)gAg>gTg	p.E1028V	FHOD3_ENST00000592128.1_Missense_Mutation_p.E7V|FHOD3_ENST00000445677.1_Missense_Mutation_p.E990V|FHOD3_ENST00000591635.1_Missense_Mutation_p.E224V|FHOD3_ENST00000590592.1_Missense_Mutation_p.E1203V|FHOD3_ENST00000359247.4_Missense_Mutation_p.E1011V	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	1011	FH2.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				ACCGATGAGGAGAAGCAGAAA	0.488000													17	27					0	0	0.500413	0	0
ATP11A	23250	broad.mit.edu	37	13	113439475	113439475	+	Silent	SNP	C	C	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr13:113439475C>T	ENST00000487903.1	+	2	154	c.66C>T	c.(64-66)gaC>gaT	p.D22D	ATP11A_ENST00000375645.3_Silent_p.D22D|ATP11A_ENST00000283558.8_Silent_p.D22D|ATP11A_ENST00000375630.2_Silent_p.D22D			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	22					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				ATTGGGTGGACAGCAGGACCA	0.567000											OREG0003855	type=REGULATORY REGION|Gene=ATP11A|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	42	73					0	0	0.827153	0	0
STAT3	6774	broad.mit.edu	37	17	40475303	40475303	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr17:40475303A>G	ENST00000264657.5	-	19	2035	c.1723T>C	c.(1723-1725)Tac>Cac	p.Y575H	STAT3_ENST00000585517.1_Missense_Mutation_p.Y575H|STAT3_ENST00000404395.3_Missense_Mutation_p.Y575H|STAT3_ENST00000588969.1_Missense_Mutation_p.Y575H|STAT3_ENST00000389272.3_Missense_Mutation_p.Y477H	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	575					cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		GCCAGGATGTACTTTTTCACA	0.517000									Hyperimmunoglobulin E Recurrent Infection Syndrome		OREG0024421	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	112					0	0	0.150653	0	0
AKAP8	10270	broad.mit.edu	37	19	15484083	15484083	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr19:15484083C>A	ENST00000269701.2	-	5	500	c.440G>T	c.(439-441)cGc>cTc	p.R147L		NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN	A kinase (PRKA) anchor protein 8	147					signal transduction	nuclear matrix		p.R147H(1)		breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						GTAGCTGGGGCGGTAGGGGTT	0.642000													29	20					1.88708e-17	2.62139e-17	0.729181	1	0
PCDHGC5	56097	broad.mit.edu	37	5	140870351	140870351	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr5:140870351G>T	ENST00000252087.1	+	1	1544	c.1544G>T	c.(1543-1545)cGg>cTg	p.R515L	PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN		515	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGGATGGACGGATCTTTGCC	0.547000													36	99					5.71845e-15	7.5941e-15	0.812448	1	0
AKAP1	8165	broad.mit.edu	37	17	55195744	55195744	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr17:55195744G>A	ENST00000337714.3	+	9	2736	c.2503G>A	c.(2503-2505)Gat>Aat	p.D835N	AKAP1_ENST00000571629.1_Missense_Mutation_p.D835N|AKAP1_ENST00000572557.1_Missense_Mutation_p.D835N|AKAP1_ENST00000539273.1_Missense_Mutation_p.D835N	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	835					blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					TCCTGAAGACGATGACCAGTT	0.532000													37	39					0	0	0.840704	0	0
SLCO3A1	28232	broad.mit.edu	37	15	92647611	92647611	+	Missense_Mutation	SNP	T	T	G			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr15:92647611T>G	ENST00000318445.6	+	4	1062	c.848T>G	c.(847-849)tTt>tGt	p.F283C	SLCO3A1_ENST00000555549.1_3'UTR|SLCO3A1_ENST00000424469.2_Missense_Mutation_p.F283C	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	283					sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			CTCTTGATGTTTGGGTTTCCA	0.597000													36	102					0	0	0.779181	0	0
OR51A7	119687	broad.mit.edu	37	11	4929367	4929367	+	Silent	SNP	C	C	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr11:4929367C>A	ENST00000359350.4	+	1	768	c.768C>A	c.(766-768)acC>acA	p.T256T	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004749.1	NP_001004749.1	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A, member 7	256					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCATCATCACCCTGGCTGCCA	0.493000													90	113					1.13762e-57	1.83345e-57	0.870114	1	0
ADAM2	2515	broad.mit.edu	37	8	39624758	39624758	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr8:39624758T>A	ENST00000265708.4	-	13	1328	c.1225A>T	c.(1225-1227)Att>Ttt	p.I409F	ADAM2_ENST00000521880.1_Missense_Mutation_p.I409F|ADAM2_ENST00000347580.4_Missense_Mutation_p.I390F|ADAM2_ENST00000379853.2_Missense_Mutation_p.I283F	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	409	Disintegrin.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		GTTTCTCCAATAAGGGCACAA	0.378000													65	100					0	0	0.870114	0	0
IRF9	10379	broad.mit.edu	37	14	24624848	24624848	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr14:24624848G>C	ENST00000558468.1	+	6	865	c.865G>C	c.(865-867)Gag>Cag	p.E289Q	RNF31_ENST00000324103.6_Missense_Mutation_p.E814Q|RNF31_ENST00000559275.1_Missense_Mutation_p.E663Q|RNF31_ENST00000382687.3_Missense_Mutation_p.E663Q																							TGAGCAGCTGGAGGCAACTTG	0.532000													33	78					0	0	0.760397	0	0
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	A	rs121913530		TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr12:25398285C>A	ENST00000311936.3	-	2	225	c.34G>T	c.(34-36)Ggt>Tgt	p.G12C	KRAS_ENST00000557334.1_Missense_Mutation_p.G12C|KRAS_ENST00000556131.1_Missense_Mutation_p.G12C|KRAS_ENST00000256078.4_Missense_Mutation_p.G12C	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348000	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			10	5					0.00621372	0.00646694	0.335167	1	0
INSL5	10022	broad.mit.edu	37	1	67263744	67263744	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr1:67263744C>A	ENST00000304526.2	-	2	394	c.360G>T	c.(358-360)ttG>ttT	p.L120F		NM_005478.4	NP_005469.2	Q9Y5Q6	INSL5_HUMAN	insulin-like 5	120						extracellular region	hormone activity			breast(2)|endometrium(1)|lung(5)	8						CAGTGCAACACAAAGTTTGTA	0.443000													13	58					1.05317e-09	1.24432e-09	0.457914	1	0
SYNE1	23345	broad.mit.edu	37	6	152473247	152473247	+	Silent	SNP	C	C	G			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr6:152473247C>G	ENST00000367255.5	-	134	24760	c.24159G>C	c.(24157-24159)ctG>ctC	p.L8053L	SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000356820.4_Silent_p.L2577L|SYNE1_ENST00000265368.4_Silent_p.L8053L|SYNE1_ENST00000354674.4_Silent_p.L208L|SYNE1_ENST00000448038.1_Silent_p.L7982L|SYNE1_ENST00000423061.1_Silent_p.L7982L|SYNE1_ENST00000341594.5_Silent_p.L7665L|SYNE1_ENST00000539504.1_Silent_p.L208L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8053					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCAGCTGCGTCAGGCACTCGT	0.542000										HNSCC(10;0.0054)			24	43					0	0	0.681144	0	0
ANKRD35	148741	broad.mit.edu	37	1	145561641	145561641	+	Silent	SNP	A	A	G			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr1:145561641A>G	ENST00000355594.4	+	10	1416	c.1329A>G	c.(1327-1329)caA>caG	p.Q443Q		NM_144698.3	NP_653299.3	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	443										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CAGGACAGCAACTGACTACCA	0.557000													18	95					0	0	0.539581	0	0
TTN	7273	broad.mit.edu	37	2	179396045	179396045	+	Silent	SNP	A	A	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr2:179396045A>T	ENST00000589042.1	-	358	105521	c.105297T>A	c.(105295-105297)tcT>tcA	p.S35099S	TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000359218.5_Silent_p.S26159S|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN_ENST00000342992.6_Silent_p.S32531S|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN_ENST00000342175.6_Silent_p.S26226S|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000591111.1_Silent_p.S33458S|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN_ENST00000460472.2_Silent_p.S26034S|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	33458							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGCAGATGCAGAGTGTTCAT	0.408000													61	70					0	0	0.870114	0	0
TRPM3	80036	broad.mit.edu	37	9	73151003	73151003	+	Missense_Mutation	SNP	G	G	A	rs41287375	by1000genomes	TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr9:73151003G>A	ENST00000377110.2	-	25	5233	c.4990C>T	c.(4990-4992)Cgg>Tgg	p.R1664W	TRPM3_ENST00000423814.3_Missense_Mutation_p.R1691W|TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000396292.4_Missense_Mutation_p.R1536W|TRPM3_ENST00000396285.1_Missense_Mutation_p.R1523W|TRPM3_ENST00000408909.2_Missense_Mutation_p.R1523W|TRPM3_ENST00000377106.1_Missense_Mutation_p.R1536W|TRPM3_ENST00000396280.5_Missense_Mutation_p.R1513W|TRPM3_ENST00000358082.3_Missense_Mutation_p.R1526W|TRPM3_ENST00000377105.1_Missense_Mutation_p.R1523W|TRPM3_ENST00000357533.2_Missense_Mutation_p.R1668W|TRPM3_ENST00000360823.2_Missense_Mutation_p.R1526W	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1689						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GCTGTGTTCCGCTGCCTGTCG	0.577000													133	74					0	0	0.870114	0	0
ZNF835	90485	broad.mit.edu	37	19	57176448	57176448	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr19:57176448A>T	ENST00000537055.2	-	2	350	c.119T>A	c.(118-120)gTg>gAg	p.V40E		NM_001005850.2	NP_001005850.2			zinc finger protein 835											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						CTTGCAGGCCACGGCCTCTGG	0.597000													22	14					0	0	0.624587	0	0
UPP1	7378	broad.mit.edu	37	7	48141551	48141551	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr7:48141551A>G	ENST00000331803.4	+	6	916	c.293A>G	c.(292-294)tAt>tGt	p.Y98C	UPP1_ENST00000429491.2_Intron|UPP1_ENST00000395564.4_Missense_Mutation_p.Y98C|UPP1_ENST00000341253.4_Missense_Mutation_p.Y98C|UPP1_ENST00000482015.1_Intron			Q16831	UPP1_HUMAN	uridine phosphorylase 1	98					nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage	cytosol	uridine phosphorylase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	18						TATGCCATGTATAAAGTAGGA	0.562000													39	44					0	0	0.853193	0	0
SYT8	90019	broad.mit.edu	37	11	1858580	1858580	+	Silent	SNP	C	C	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr11:1858580C>T	ENST00000341958.3	+	8	1385	c.1083C>T	c.(1081-1083)ccC>ccT	p.P361P	SYT8_ENST00000535046.1_3'UTR|SYT8_ENST00000381968.3_Silent_p.P375P			Q8NBV8	SYT8_HUMAN	synaptotagmin VIII	375						acrosomal vesicle|integral to membrane|plasma membrane|synaptic vesicle	transporter activity			breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		AGCGGCACCCCCTGCGGCCAG	0.726000													4	11					0	0	0.150653	0	0
ZNF733P	643955	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1																						CTTATGTCTAGTAAGGTTTGA	0.438000													4	8					0	0	0.150653	0	0
WNT7A	7476	broad.mit.edu	37	3	13860915	13860915	+	Silent	SNP	C	C	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr3:13860915C>T	ENST00000285018.4	-	4	880	c.576G>A	c.(574-576)ctG>ctA	p.L192L		NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family, member 7A	192					activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						TGTTCTCCTCCAGGATCTGCA	0.657000													19	56					0	0	0.575678	0	0
ATR	545	broad.mit.edu	37	3	142272808	142272808	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr3:142272808T>A	ENST00000350721.4	-	11	2512	c.2391A>T	c.(2389-2391)gaA>gaT	p.E797D	ATR_ENST00000383101.3_Missense_Mutation_p.E733D	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	797					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						CTGTTTCATCTTCTCTAAAAT	0.308000								Other conserved DNA damage response genes					9	27					0	0	0.307466	0	0
SNORD114-1	767577	broad.mit.edu	37	14	101416185	101416185	+	RNA	SNP	G	G	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr14:101416185G>A	ENST00000362705.1	+	0	16					NR_003193.1																						CTATGATGATGACTGGTGGCG	0.353000													15	30					0	0	0.457914	0	0
PRSS1	5644	broad.mit.edu	37	7	142458515	142458515	+	Silent	SNP	C	C	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr7:142458515C>T	ENST00000486171.1	+	2	167	c.150C>T	c.(148-150)ggC>ggT	p.G50G	PRSS1_ENST00000311737.7_Silent_p.G50G			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	50	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			TCTGTGGTGGCTCCCTCATCA	0.562000													7	147					0	0	0.248553	0	0
SLC9A1	6548	broad.mit.edu	37	1	27480730	27480730	+	Silent	SNP	G	G	C			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr1:27480730G>C	ENST00000263980.3	-	1	671	c.96C>G	c.(94-96)ctC>ctG	p.L32L	SLC9A1_ENST00000545949.1_5'UTR|SLC9A1_ENST00000374086.3_Silent_p.L32L	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN	solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	32					regulation of pH	integral to membrane	sodium:hydrogen antiporter activity			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	CATGGCTCCTGAGAACAGGCA	0.607000													17	73					0	0	0.520397	0	0
ZNF16	7564	broad.mit.edu	37	8	146156251	146156251	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr8:146156251C>T	ENST00000276816.4	-	4	2108	c.1922G>A	c.(1921-1923)cGt>cAt	p.R641H	ZNF16_ENST00000394909.2_Missense_Mutation_p.R641H	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	641					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		GAGGACCGAACGCTGACTGAA	0.537000													49	69					0	0	0.870114	0	0
PAX3	5077	broad.mit.edu	37	2	223160317	223160317	+	Silent	SNP	G	G	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr2:223160317G>T	ENST00000350526.4	-	3	517	c.381C>A	c.(379-381)ggC>ggA	p.G127G	PAX3_ENST00000409551.3_Silent_p.G126G|PAX3_ENST00000258387.5_Silent_p.G127G|PAX3_ENST00000336840.6_Silent_p.G127G|PAX3_ENST00000409828.3_Silent_p.G127G|PAX3_ENST00000344493.4_Silent_p.G127G|PAX3_ENST00000392070.2_Silent_p.G127G|PAX3_ENST00000392069.2_Silent_p.G127G	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN	paired box 3	127	Paired.				apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGCTGAACATGCCCGGGTTCT	0.542000			T	"""FOXO1A, NCOA1"""	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome						17	58					3.32936e-07	3.77252e-07	0.539581	1	0
RBL2	5934	broad.mit.edu	37	16	53515618	53515618	+	Silent	SNP	A	A	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr16:53515618A>T	ENST00000262133.6	+	21	3257	c.3120A>T	c.(3118-3120)gtA>gtT	p.V1040V	RBL2_ENST00000379935.4_3'UTR|RBL2_ENST00000544545.1_Intron	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2 (p130)	1040					cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						ATCCATTTGTAAGAACAGGCT	0.333000													12	21					0	0	0.411799	0	0
ESPNP	284729	broad.mit.edu	37	1	17033809	17033809	+	RNA	SNP	G	G	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr1:17033809G>T	ENST00000492551.1	-	0	669					NR_026567.1																						CGCAGGCAGTGGGTGCAGTGG	0.662000													4	33					0.000602214	0.000644952	0.184627	1	0
STON2	85439	broad.mit.edu	37	14	81743750	81743750	+	Silent	SNP	G	G	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr14:81743750G>T	ENST00000555447.1	-	6	2317	c.1905C>A	c.(1903-1905)acC>acA	p.T635T	STON2_ENST00000267540.2_Silent_p.T635T	NM_001256430.1	NP_001243359.1	Q8WXE9	STON2_HUMAN	stonin 2	635	MHD.				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		ACTTTGTGGTGGTGGTGGGCA	0.517000													19	19					3.32936e-07	3.77252e-07	0.539581	1	0
HPSE2	60495	broad.mit.edu	37	10	100374727	100374727	+	Silent	SNP	C	C	G			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr10:100374727C>G	ENST00000370552.3	-	9	1313	c.1254G>C	c.(1252-1254)gtG>gtC	p.V418V	HPSE2_ENST00000404542.1_Silent_p.V306V|HPSE2_ENST00000370549.1_Silent_p.V360V|HPSE2_ENST00000370546.1_Silent_p.V418V	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2	418					carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		AGTGCCGTATCACGACATCAA	0.388000													53	113					0	0	0.870114	0	0
TPTE	7179	broad.mit.edu	37	21	10942750	10942750	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr21:10942750T>A	ENST00000298232.7	-	12	1004	c.637A>T	c.(637-639)Aca>Tca	p.T213S	TPTE_ENST00000342420.5_Missense_Mutation_p.T193S|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.T231S	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	231					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CCATCCCTTGTGTATCGCCTT	0.313000													76	437					0	0	0.870114	0	0
KRT6A	3853	broad.mit.edu	37	12	52885323	52885323	+	Silent	SNP	C	C	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr12:52885323C>T	ENST00000330722.6	-	2	806	c.738G>A	c.(736-738)gtG>gtA	p.V246V		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	246	Coil 1B.|Rod.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		TGAAGTCCTCCACCAGGTCCT	0.542000													42	43					0	0	0.834066	0	0
NAF1	92345	broad.mit.edu	37	4	164087830	164087830	+	Missense_Mutation	SNP	T	T	A	rs113104155	by1000genomes	TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr4:164087830T>A	ENST00000274054.2	-	1	243	c.50A>T	c.(49-51)aAt>aTt	p.N17I	NAF1_ENST00000422287.2_Missense_Mutation_p.N17I	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 ribonucleoprotein	17					rRNA processing|snRNA pseudouridine synthesis	cytoplasm|nucleus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21	all_hematologic(180;0.166)	Prostate(90;0.109)				GTCGGTGCCATTGAATTTCAG	0.657000													17	19					0	0	0.520397	0	0
CSMD1	64478	broad.mit.edu	37	8	3263580	3263580	+	Silent	SNP	C	C	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr8:3263580C>A	ENST00000602557.1	-	16	2793	c.2238G>T	c.(2236-2238)gtG>gtT	p.V746V	CSMD1_ENST00000539096.1_Silent_p.V745V|CSMD1_ENST00000542608.1_Silent_p.V745V|CSMD1_ENST00000602723.1_Silent_p.V746V|CSMD1_ENST00000400186.3_Silent_p.V746V|CSMD1_ENST00000520002.1_Silent_p.V746V|CSMD1_ENST00000537824.1_Silent_p.V745V			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	746	Sushi 4.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AGCTCCAGACCACGTTCCCGT	0.547000													13	28					6.53275e-17	8.96229e-17	0.457914	1	0
HMCN1	83872	broad.mit.edu	37	1	185932971	185932971	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr1:185932971G>T	ENST00000271588.4	+	13	2271	c.2042G>T	c.(2041-2043)tGc>tTc	p.C681F	HMCN1_ENST00000485744.1_3'UTR|HMCN1_ENST00000367492.2_Missense_Mutation_p.C681F	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	681	Ig-like C2-type 3.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ATCTATGGTTGCCTAGCAAGT	0.328000													57	86					1.45723e-30	2.22949e-30	0.870114	1	0
RBM46	166863	broad.mit.edu	37	4	155720682	155720682	+	Silent	SNP	G	G	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr4:155720682G>A	ENST00000510397.1	+	4	1547	c.1368G>A	c.(1366-1368)aaG>aaA	p.K456K	RBM46_ENST00000514866.1_Silent_p.K456K|RBM46_ENST00000281722.3_Silent_p.K456K	NM_001277173.1	NP_001264102.1	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	456							nucleotide binding|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				AAGATGCAAAGGAACTGGCAG	0.323000													3	18					0	0	0.150653	0	0
RYR2	6262	broad.mit.edu	37	1	237880546	237880546	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr1:237880546C>T	ENST00000366574.2	+	72	10689	c.10372C>T	c.(10372-10374)Cgg>Tgg	p.R3458W	RYR2_ENST00000542537.1_Missense_Mutation_p.R3442W|RYR2_ENST00000360064.6_Missense_Mutation_p.R3456W	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3458					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CAAAGGAGATCGGTATTCCAT	0.493000													19	12					0	0	0.608945	0	0
TONSL	4796	broad.mit.edu	37	8	145661513	145661513	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr8:145661513C>T	ENST00000409379.3	-	17	2332	c.2303G>A	c.(2302-2304)cGg>cAg	p.R768Q	AC084125.4_ENST00000544423.1_RNA	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	768					cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						GGCTGCCACCCGTTGTGCTGT	0.711000													4	9					0	0	0.217242	0	0
KLHL1	57626	broad.mit.edu	37	13	70535565	70535565	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr13:70535565C>T	ENST00000377844.4	-	3	1451	c.692G>A	c.(691-693)aGt>aAt	p.S231N	KLHL1_ENST00000545028.1_Missense_Mutation_p.S38N	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	231	BTB.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		GGAGACTGAACTCAGAACAAG	0.438000													31	41					0	0	0.769981	0	0
ADAMTS14	140766	broad.mit.edu	37	10	72434578	72434578	+	Silent	SNP	C	C	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr10:72434578C>T	ENST00000373208.1	+	2	349	c.349C>T	c.(349-351)Ctg>Ttg	p.L117L	ADAMTS14_ENST00000373207.1_Silent_p.L117L	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	117					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						CGGGAAGGAACTGCACTTGCG	0.637000													18	23					0	0	0.539581	0	0
MGA	23269	broad.mit.edu	37	15	42058514	42058514	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr15:42058514A>T	ENST00000219905.7	+	24	8415	c.8234A>T	c.(8233-8235)aAa>aTa	p.K2745I	MGA_ENST00000389936.4_Missense_Mutation_p.K2706I|MGA_ENST00000570161.1_Missense_Mutation_p.K2745I|MGA_ENST00000566586.1_Missense_Mutation_p.K2536I|MGA_ENST00000545763.1_Missense_Mutation_p.K2536I	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	2706						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		TTCTTACCTAAAAAGATTTCT	0.378000													13	10					0	0	0.457914	0	0
FUT11	170384	broad.mit.edu	37	10	75532234	75532234	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr10:75532234G>T	ENST00000372841.3	+	1	186	c.143G>T	c.(142-144)cGg>cTg	p.R48L	AC022400.2_ENST00000595757.1_Silent_p.R49R|FUT11_ENST00000394790.1_Missense_Mutation_p.R48L	NM_173540.2	NP_775811.2	Q495W5	FUT11_HUMAN	fucosyltransferase 11 (alpha (1,3) fucosyltransferase)	48					protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	7	Prostate(51;0.0112)					GCGGTTTTCCGGCCGCCCTCG	0.741000													3	21					0.115264	0.117385	0.115264	1	0
PTCHD4	442213	broad.mit.edu	37	6	47846599	47846599	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr6:47846599C>G	ENST00000339488.4	-	3	2014	c.1981G>C	c.(1981-1983)Gtt>Ctt	p.V661L		NM_001013732.3	NP_001013754.3	Q6ZW05	CF138_HUMAN	patched domain containing 4	661						integral to membrane	hedgehog receptor activity										GCAATCAGAACAGGCACTGTG	0.483000													45	79					0	0	0.859065	0	0
CHRNA3	1136	broad.mit.edu	37	15	78909405	78909405	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr15:78909405G>A	ENST00000326828.5	-	4	722	c.338C>T	c.(337-339)gCa>gTa	p.A113V	CHRNA3_ENST00000348639.3_Missense_Mutation_p.A113V	NM_000743.4	NP_000734.2	P32297	ACHA3_HUMAN	cholinergic receptor, nicotinic, alpha 3 (neuronal)	113					activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GATCTTCTGTGCAGGGACACG	0.562000													13	11					0	0	0.479597	0	0
CASP3	836	broad.mit.edu	37	4	185553059	185553059	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr4:185553059C>A	ENST00000308394.4	-	6	605	c.343G>T	c.(343-345)Gtt>Ttt	p.V115F	CASP3_ENST00000393588.4_Missense_Mutation_p.V115F|CASP3_ENST00000517513.1_Missense_Mutation_p.V115F|CASP3_ENST00000523916.1_Missense_Mutation_p.V115F|CASP3_ENST00000393585.2_Missense_Mutation_p.V115F	NM_004346.3	NP_004337.2	P42574	CASP3_HUMAN	caspase 3, apoptosis-related cysteine peptidase	115					activation of caspase activity by cytochrome c|DNA fragmentation involved in apoptotic nuclear change|negative regulation of apoptosis|nerve growth factor receptor signaling pathway|nuclear fragmentation involved in apoptotic nuclear change|proteolysis|response to tumor necrosis factor	cytosol|mitochondrion|nucleoplasm|plasma membrane	cysteine-type endopeptidase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	12		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.057)|all_hematologic(60;0.0592)		all cancers(43;2.05e-27)|Epithelial(43;4.27e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.04e-11)|Colorectal(24;2e-05)|STAD - Stomach adenocarcinoma(60;2.35e-05)|GBM - Glioblastoma multiforme(59;4.94e-05)|COAD - Colon adenocarcinoma(29;0.00017)|BRCA - Breast invasive adenocarcinoma(30;0.000218)|LUSC - Lung squamous cell carcinoma(40;0.00904)|READ - Rectum adenocarcinoma(43;0.161)	Melatonin(DB01065)|Minocycline(DB01017)|Simvastatin(DB00641)	AGCACACAAACAAAACTGCTC	0.338000													38	73					6.48837e-15	8.58222e-15	0.853193	1	0
PRKACG	5568	broad.mit.edu	37	9	71628335	71628335	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr9:71628335A>G	ENST00000377276.2	-	1	704	c.674T>C	c.(673-675)cTa>cCa	p.L225P		NM_002732.3	NP_002723.2	P22612	KAPCG_HUMAN	protein kinase, cAMP-dependent, catalytic, gamma	225	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport	cytosol|nucleoplasm	ATP binding|cAMP-dependent protein kinase activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						GAGCACCCCTAGGGCCCACCA	0.612000													25	23					0	0	0.654019	0	0
FBLN1	2192	broad.mit.edu	37	22	45960816	45960816	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr22:45960816G>A	ENST00000348697.2	+	15	1897	c.1750G>A	c.(1750-1752)Gac>Aac	p.D584N	FBLN1_ENST00000442170.2_Missense_Mutation_p.D584N|FBLN1_ENST00000327858.6_Intron			P23142	FBLN1_HUMAN	fibulin 1	580					interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		AAGTAAAGAGGACTGCAGGGT	0.537000													16	22					0	0	0.500413	0	0
ARHGEF11	9826	broad.mit.edu	37	1	156917973	156917973	+	Splice_Site	SNP	C	C	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr1:156917973C>A	ENST00000368194.3	-	24	3192	c.2153_splice	c.e24+1	p.R718_splice	ARHGEF11_ENST00000315174.8_Splice_Site_p.R94_splice|ARHGEF11_ENST00000361409.2_Splice_Site_p.R678_splice	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	678					actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CATCACTTACCTGCGGCCCAT	0.587000													13	33					4.36969e-10	5.25629e-10	0.435327	1	0
BPI	671	broad.mit.edu	37	20	36935979	36935979	+	Silent	SNP	G	G	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr20:36935979G>A	ENST00000262865.4	+	2	242	c.153G>A	c.(151-153)caG>caA	p.Q51Q	CTD-2308N23.2_ENST00000437016.1_RNA	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	51					defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding			kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				CCAGCCAGCAGGGGACGGCCG	0.592000													36	82					0	0	0.804634	0	0
SLC5A3	6526	broad.mit.edu	37	21	35469090	35469090	+	Silent	SNP	T	T	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr21:35469090T>A	ENST00000381151.3	+	2	2105	c.1593T>A	c.(1591-1593)ctT>ctA	p.L531L	MRPS6_ENST00000399312.2_Intron	NM_006933.4	NP_008864.3	P53794	SC5A3_HUMAN	solute carrier family 5 (sodium/myo-inositol cotransporter), member 3	531						integral to plasma membrane	myo-inositol:sodium symporter activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						TTGTGAGCCTTCTCACACCAC	0.468000													26	32					0	0	0.693898	0	0
OBSL1	23363	broad.mit.edu	37	2	220432677	220432677	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr2:220432677G>A	ENST00000404537.1	-	3	1353	c.1297C>T	c.(1297-1299)Cgc>Tgc	p.R433C	OBSL1_ENST00000289656.3_Missense_Mutation_p.R20C|OBSL1_ENST00000265318.4_Missense_Mutation_p.R433C|OBSL1_ENST00000603926.1_Missense_Mutation_p.R433C|OBSL1_ENST00000373873.4_Missense_Mutation_p.R433C|OBSL1_ENST00000373876.1_Missense_Mutation_p.R433C	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	433					cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		CGGGGCAGGCGCTTCAGGATG	0.637000													10	35					0	0	0.335167	0	0
DDX25	29118	broad.mit.edu	37	11	125778353	125778353	+	Silent	SNP	G	G	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr11:125778353G>A	ENST00000263576.6	+	6	617	c.462G>A	c.(460-462)gtG>gtA	p.V154V	RP11-680F20.9_ENST00000533033.2_RNA|DDX25_ENST00000525943.1_3'UTR	NM_013264.4	NP_037396.3	Q9UHL0	DDX25_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 25	154	Helicase ATP-binding.				mRNA export from nucleus|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|nucleus	ATP binding|ATP-dependent RNA helicase activity|RNA binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)	10	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0203)|Lung NSC(97;0.0203)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.14e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.046)		CGGCATTTGTGTTGGCAATGT	0.463000													68	95					0	0	0.870114	0	0
DDX42	11325	broad.mit.edu	37	17	61895427	61895427	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr17:61895427G>A	ENST00000578681.1	+	19	3087	c.2486G>A	c.(2485-2487)aGc>aAc	p.S829N	DDX42_ENST00000582985.1_Intron|DDX42_ENST00000457800.2_Missense_Mutation_p.S829N|DDX42_ENST00000389924.2_Missense_Mutation_p.S829N|DDX42_ENST00000359353.5_Missense_Mutation_p.S710N|DDX42_ENST00000583590.1_Missense_Mutation_p.S829N	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42	829	Gly-rich.|His-rich.|Necessary for interaction with TP53BP2.				protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	p.S829I(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						AATCGGCATAGCGATAGTCCA	0.587000													20	52					0	0	0.592651	0	0
LOC101927060	101927060	broad.mit.edu	37	17	45128812	45128812	+	RNA	SNP	C	C	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr17:45128812C>T	ENST00000575173.1	-	0	418																											AGTCCTGTTTCTGTGTGGATT	0.373000													3	42					0	0	0.115264	0	0
TFDP1	7027	broad.mit.edu	37	13	114288852	114288852	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr13:114288852G>T	ENST00000375370.5	+	8	834	c.622G>T	c.(622-624)Gaa>Taa	p.E208*	TFDP1_ENST00000538138.1_Nonsense_Mutation_p.E113*|TFDP1_ENST00000544902.1_Nonsense_Mutation_p.E113*	NM_007111.4	NP_009042.1	Q14186	TFDP1_HUMAN	transcription factor Dp-1	208	Dimerization (Potential).				cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|regulation of transcription from RNA polymerase II promoter	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding	p.E208*(1)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	all cancers(43;0.0576)			TTTGAAGGTGGAAAGACAGAG	0.398000										TSP Lung(29;0.18)			30	56					3.99451e-17	5.50281e-17	0.740014	1	0
OR5AC2	81050	broad.mit.edu	37	3	97806880	97806880	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr3:97806880C>G	ENST00000358642.2	+	1	864	c.864C>G	c.(862-864)aaC>aaG	p.N288K		NM_054106.1	NP_473447.1	Q9NZP5	O5AC2_HUMAN	olfactory receptor, family 5, subfamily AC, member 2	288					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						CCCTGCTAAACCCATTTATTT	0.358000													13	35					0	0	0.435327	0	0
MUC5B	727897	broad.mit.edu	37	11	1267214	1267214	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr11:1267214C>T	ENST00000447027.1	+	31	9171	c.9113C>T	c.(9112-9114)aCc>aTc	p.T3038I	MUC5B_ENST00000529681.1_Missense_Mutation_p.T3035I|RP11-532E4.2_ENST00000532061.2_RNA			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3035	17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCCACAGCCACCAGTTCCAAA	0.612000													63	110					0	0	0.870114	0	0
SDK1	221935	broad.mit.edu	37	7	3991439	3991439	+	Missense_Mutation	SNP	G	G	A	rs138596298	byFrequency	TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr7:3991439G>A	ENST00000404826.2	+	7	1176	c.1037G>A	c.(1036-1038)cGc>cAc	p.R346H	SDK1_ENST00000389531.3_Missense_Mutation_p.R346H	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	346	Ig-like C2-type 3.			R -> H (in Ref. 1; AAP75619 and 2; BAB71066).	cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TTTGGAAGACGCCTCACCATC	0.617000													9	81					0	0	0.307466	0	0
SLITRK1	114798	broad.mit.edu	37	13	84453805	84453805	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr13:84453805C>A	ENST00000377084.2	-	1	2723	c.1838G>T	c.(1837-1839)aGc>aTc	p.S613I		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	613						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GGACACCCTGCTGGTGTCTAG	0.582000													14	29					1.49906e-05	1.65345e-05	0.457914	1	0
TFAP2C	7022	broad.mit.edu	37	20	55206867	55206867	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr20:55206867G>T	ENST00000201031.2	+	3	784	c.541G>T	c.(541-543)Gac>Tac	p.D181Y	TFAP2C_ENST00000544508.1_Missense_Mutation_p.D12Y	NM_003222.3	NP_003213.1	Q92754	AP2C_HUMAN	transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma)	181					cell-cell signaling|male gonad development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			Colorectal(105;0.229)			CCAGAATGTCGACGACCAGCA	0.557000													27	47					4.59853e-10	5.51159e-10	0.693898	1	0
TBC1D21	161514	broad.mit.edu	37	15	74178467	74178467	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr15:74178467C>A	ENST00000300504.2	+	7	711	c.628C>A	c.(628-630)Ctc>Atc	p.L210I	TBC1D21_ENST00000562056.1_Missense_Mutation_p.L173I|TBC1D21_ENST00000535547.2_Missense_Mutation_p.L174I	NM_153356.1	NP_699187.1	Q8IYX1	TBC21_HUMAN	TBC1 domain family, member 21	210	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	17						CCTAGACATGCTCAGCACCCT	0.592000													26	36					9.39395e-14	1.21354e-13	0.706142	1	0
PPP2R5B	5526	broad.mit.edu	37	11	64694309	64694309	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr11:64694309G>A	ENST00000164133.2	+	3	947	c.325G>A	c.(325-327)Gag>Aag	p.E109K		NM_006244.3	NP_006235.1	Q15173	2A5B_HUMAN	protein phosphatase 2, regulatory subunit B', beta	109					signal transduction	cytoplasm|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)	21						AGCCCTCAACGAGCTGGTGGA	0.642000													14	67					0	0	0.479597	0	0
LMBRD2	92255	broad.mit.edu	37	5	36122394	36122394	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr5:36122394T>A	ENST00000296603.4	-	9	1570	c.1108A>T	c.(1108-1110)Aat>Tat	p.N370Y		NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	370						integral to membrane				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AATGTAGGATTATAAAAATAT	0.294000													17	27					0	0	0.557998	0	0
NHLRC2	374354	broad.mit.edu	37	10	115636548	115636548	+	Silent	SNP	C	C	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr10:115636548C>T	ENST00000369301.3	+	3	812	c.600C>T	c.(598-600)gaC>gaT	p.D200D		NM_198514.3	NP_940916.2	Q8NBF2	NHLC2_HUMAN	NHL repeat containing 2	200	Thioredoxin.				cell redox homeostasis					breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15				Epithelial(162;0.017)|all cancers(201;0.0187)		ATTACAAAGACAGGGGGCAGA	0.343000													23	39					0	0	0.624587	0	0
SLITRK2	84631	broad.mit.edu	37	X	144904874	144904874	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chrX:144904874C>A	ENST00000370490.1	+	1	5186	c.931C>A	c.(931-933)Cca>Aca	p.P311T	SLITRK2_ENST00000447897.2_Missense_Mutation_p.P311T|SLITRK2_ENST00000428560.2_Missense_Mutation_p.P311T|SLITRK2_ENST00000434188.2_Missense_Mutation_p.P311T|SLITRK2_ENST00000413937.2_Missense_Mutation_p.P311T			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	311						integral to membrane		p.P311A(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					GAGAAATCGTCCAACTCCTCG	0.552000													35	16					1.414e-09	1.66471e-09	0.788014	1	0
IL7R	3575	broad.mit.edu	37	5	35876359	35876359	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr5:35876359C>A	ENST00000303115.3	+	8	1280	c.1151C>A	c.(1150-1152)tCt>tAt	p.S384Y	IL7R_ENST00000343305.4_3'UTR	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	384				S -> P (in Ref. 7; AAH67537).	immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity	p.S384F(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			ATTCTCTCCTCTTCCAGGTCC	0.542000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency						31	38					1.56442e-22	2.27801e-22	0.760397	1	0
SEZ6L	23544	broad.mit.edu	37	22	26747058	26747058	+	Silent	SNP	C	C	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr22:26747058C>A	ENST00000529632.2	+	12	2644	c.2448C>A	c.(2446-2448)acC>acA	p.T816T	SEZ6L_ENST00000403121.1_Silent_p.T589T|SEZ6L_ENST00000402979.1_Silent_p.T589T|SEZ6L_ENST00000343706.4_Silent_p.T816T|SEZ6L_ENST00000360929.3_Intron|SEZ6L_ENST00000411842.2_Silent_p.T13T|SEZ6L_ENST00000248933.6_Silent_p.T816T|SEZ6L_ENST00000404234.3_Silent_p.T816T	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	816	Sushi 4.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						ATCACTCGACCCGCTTAATTT	0.542000													28	48					7.26314e-15	9.5689e-15	0.717897	1	0
RASIP1	54922	broad.mit.edu	37	19	49224080	49224080	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr19:49224080C>T	ENST00000222145.4	-	12	3071	c.2867G>A	c.(2866-2868)gGg>gAg	p.G956E		NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN	Ras interacting protein 1	956					signal transduction	Golgi stack|perinuclear region of cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		CACGGGAGGCCCATGGCGATA	0.612000													95	44					0	0	0.870114	0	0
TRPV5	56302	broad.mit.edu	37	7	142626165	142626165	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr7:142626165G>C	ENST00000265310.1	-	5	886	c.538C>G	c.(538-540)Cgg>Ggg	p.R180G	TRPV5_ENST00000442623.1_Missense_Mutation_p.R180G	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	180					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					ATGAGCAGCCGCACGATCTCC	0.612000													17	14					0	0	0.557998	0	0
ARHGAP11A	9824	broad.mit.edu	37	15	32929036	32929036	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr15:32929036A>G	ENST00000361627.3	+	12	2784	c.2062A>G	c.(2062-2064)Ata>Gta	p.I688V	ARHGAP11A_ENST00000565905.1_Missense_Mutation_p.I499V|ARHGAP11A_ENST00000543522.1_Missense_Mutation_p.I499V	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	688					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.I688V(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		AGAAACAACTATAAAATGTTA	0.323000													12	28					0	0	0.387290	0	0
PTPRD	5789	broad.mit.edu	37	9	8484231	8484231	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr9:8484231C>A	ENST00000381196.4	-	27	3844	c.3301G>T	c.(3301-3303)Gca>Tca	p.A1101S	PTPRD_ENST00000540109.1_Missense_Mutation_p.A1101S|PTPRD_ENST00000397617.3_Missense_Mutation_p.A680S|PTPRD_ENST00000358503.5_Missense_Mutation_p.A1079S|PTPRD_ENST00000360074.4_Missense_Mutation_p.A1088S|PTPRD_ENST00000355233.5_Missense_Mutation_p.A690S|PTPRD_ENST00000397611.3_Missense_Mutation_p.A687S|PTPRD_ENST00000397606.3_Missense_Mutation_p.A680S|PTPRD_ENST00000486161.1_Missense_Mutation_p.A690S|PTPRD_ENST00000537002.1_Missense_Mutation_p.A687S|PTPRD_ENST00000356435.5_Missense_Mutation_p.A1101S	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1101	Fibronectin type-III 8.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GCAGTCTTTGCCGTGACCCTG	0.473000										TSP Lung(15;0.13)			43	38					6.5261e-18	9.18079e-18	0.840704	1	0
MARS2	92935	broad.mit.edu	37	2	198570930	198570930	+	Silent	SNP	G	G	T	rs144114997		TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr2:198570930G>T	ENST00000282276.6	+	1	844	c.801G>T	c.(799-801)ccG>ccT	p.P267P	AC011997.1_ENST00000409845.1_Intron	NM_138395.3	NP_612404.1	Q96GW9	SYMM_HUMAN	methionyl-tRNA synthetase 2, mitochondrial	267					methionyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|methionine-tRNA ligase activity			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22					L-Methionine(DB00134)	GGGGCATTCCGGTGCCCGGGG	0.547000													31	52					2.61193e-14	3.42752e-14	0.740014	1	0
RQCD1	9125	broad.mit.edu	37	2	219452361	219452361	+	Silent	SNP	A	A	C			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr2:219452361A>C	ENST00000273064.6	+	5	858	c.483A>C	c.(481-483)acA>acC	p.T161T	RQCD1_ENST00000542068.1_Silent_p.T161T|RQCD1_ENST00000509807.2_Silent_p.T193T|RQCD1_ENST00000295701.5_Silent_p.T161T	NM_005444.2	NP_005435.1	Q92600	RCD1_HUMAN	RCD1 required for cell differentiation1 homolog (S. pombe)	161					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|sex differentiation|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)	15		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000192)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TATTAACAACAGAAATTATCC	0.303000													9	17					0	0	0.335167	0	0
TFAP2D	83741	broad.mit.edu	37	6	50683151	50683151	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr6:50683151C>T	ENST00000008391.3	+	2	590	c.362C>T	c.(361-363)gCg>gTg	p.A121V		NM_172238.3	NP_758438.2	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 delta (activating enhancer binding protein 2 delta)	121							DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					AATGCGCGGGCGCTCAAGTCG	0.607000													59	86					0	0	0.870114	0	0
ELN	2006	broad.mit.edu	37	7	73467602	73467602	+	Silent	SNP	T	T	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr7:73467602T>A	ENST00000252034.7	+	18	1458	c.1059T>A	c.(1057-1059)gtT>gtA	p.V353V	ELN_ENST00000414324.1_Silent_p.V348V|ELN_ENST00000380553.4_Silent_p.V236V|ELN_ENST00000380562.4_Silent_p.V353V|ELN_ENST00000358929.4_Silent_p.V353V|ELN_ENST00000458204.1_Silent_p.V343V|ELN_ENST00000320399.6_Silent_p.V353V|ELN_ENST00000445912.1_Silent_p.V353V|ELN_ENST00000357036.5_Silent_p.V358V|ELN_ENST00000380575.4_Silent_p.V343V|ELN_ENST00000380584.4_Silent_p.V339V|ELN_ENST00000429192.1_Silent_p.V358V|ELN_ENST00000466878.1_3'UTR|ELN_ENST00000320492.7_Silent_p.V317V|ELN_ENST00000380576.5_Silent_p.V353V	NM_000501.2	NP_000492.2	P15502	ELN_HUMAN	elastin	353	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	GGATTCCAGTTGTCCCAGGTG	0.587000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""						43	24					0	0	0.840704	0	0
KREMEN2	79412	broad.mit.edu	37	16	3014592	3014592	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr16:3014592C>A	ENST00000572045.1	+	1	376	c.71C>A	c.(70-72)tCg>tAg	p.S24*	KREMEN2_ENST00000303746.5_Nonsense_Mutation_p.S24*|KREMEN2_ENST00000571007.1_Nonsense_Mutation_p.S24*|KREMEN2_ENST00000319500.6_Nonsense_Mutation_p.S24*|KREMEN2_ENST00000575885.1_Nonsense_Mutation_p.S24*|KREMEN2_ENST00000575769.1_Nonsense_Mutation_p.S24*	NM_172229.2	NP_757384.1	Q8NCW0	KREM2_HUMAN	kringle containing transmembrane protein 2	24					Wnt receptor signaling pathway	integral to membrane				central_nervous_system(2)|endometrium(1)|large_intestine(1)	4						CGTGGGGCCTCGGCTGGGAGC	0.687000													9	34					0.00621372	0.00646694	0.335167	1	0
LDB3	11155	broad.mit.edu	37	10	88441336	88441336	+	Silent	SNP	C	C	T	rs45516997	byFrequency	TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr10:88441336C>T	ENST00000429277.2	+	5	610	c.465C>T	c.(463-465)ctC>ctT	p.L155L	LDB3_ENST00000458213.2_Intron|LDB3_ENST00000263066.6_Intron|LDB3_ENST00000352360.5_Intron|LDB3_ENST00000542786.1_Silent_p.L155L|LDB3_ENST00000372066.3_Intron|LDB3_ENST00000361373.4_Silent_p.L155L|LDB3_ENST00000310944.6_Silent_p.L155L|LDB3_ENST00000372056.4_Silent_p.L155L	NM_001171610.1	NP_001165081.1	O75112	LDB3_HUMAN	LIM domain binding 3	155						cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						TCTCCTCACTCGCCGAGGCCT	0.736000													3	42					0	0	0.115264	0	0
DNAH9	1770	broad.mit.edu	37	17	11865532	11865532	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr17:11865532A>G	ENST00000262442.3	+	68	13260	c.13192A>G	c.(13192-13194)Atc>Gtc	p.I4398V	RP11-1096G20.5_ENST00000580270.1_RNA|DNAH9_ENST00000396001.2_Missense_Mutation_p.I710V|DNAH9_ENST00000454412.2_Missense_Mutation_p.I4322V	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	4398					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGGGGCCTACATCCATGGCCT	0.517000													33	29					0	0	0.769981	0	0
BMPER	168667	broad.mit.edu	37	7	34085918	34085918	+	Splice_Site	SNP	G	G	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr7:34085918G>T	ENST00000297161.2	+	8	951	c.576_splice	c.e8-1	p.G193_splice	BMPER_ENST00000494786.1_3'UTR|BMPER_ENST00000426693.1_Splice_Site_p.G193_splice	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	193	VWFC 3.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						CTTTTCTTAGGGAGGCAGGAC	0.438000													34	116					1.22384e-17	1.7072e-17	0.769981	1	0
KCTD16	57528	broad.mit.edu	37	5	143587020	143587020	+	Missense_Mutation	SNP	T	T	G			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr5:143587020T>G	ENST00000507359.2	+	2	1834	c.743T>G	c.(742-744)gTg>gGg	p.V248G	KCTD16_ENST00000512467.1_Missense_Mutation_p.V248G	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	potassium channel tetramerization domain containing 16	248						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			TTCCACATGGTGGCCTGTAAC	0.428000													71	77					0	0	0.870114	0	0
FBN2	2201	broad.mit.edu	37	5	127782228	127782228	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr5:127782228C>G	ENST00000508053.1	-	13	1872	c.898G>C	c.(898-900)Gaa>Caa	p.E300Q	FBN2_ENST00000262464.4_Missense_Mutation_p.E300Q|FBN2_ENST00000508989.1_Missense_Mutation_p.E267Q			P35556	FBN2_HUMAN	fibrillin 2	300	EGF-like 4; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CATCTGCATTCAAAAGAGCCC	0.428000													38	67					0	0	0.812448	0	0
GPR112	139378	broad.mit.edu	37	X	135431752	135431752	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chrX:135431752G>T	ENST00000394143.1	+	6	6178	c.5887G>T	c.(5887-5889)Gct>Tct	p.A1963S	GPR112_ENST00000287534.4_Missense_Mutation_p.A1900S|GPR112_ENST00000370652.1_Missense_Mutation_p.A1963S|GPR112_ENST00000412101.1_Missense_Mutation_p.A1758S|GPR112_ENST00000394141.1_Missense_Mutation_p.A1758S	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1963					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ATCTTTAAGAGCTATCACTTC	0.418000													33	15					2.08457e-15	2.79063e-15	0.750413	1	0
SUCO	51430	broad.mit.edu	37	1	172579150	172579150	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr1:172579150G>C	ENST00000367723.3	+	23	4096	c.3972G>C	c.(3970-3972)caG>caC	p.Q1324H	SUCO_ENST00000263688.3_Missense_Mutation_p.Q1172H	NM_016227.2	NP_057311.2			SUN domain containing ossification factor																		CTTCATCACAGTCAGAAGAGT	0.403000													21	139					0	0	0.624587	0	0
DUSP27	92235	broad.mit.edu	37	1	167097826	167097826	+	Missense_Mutation	SNP	A	A	C	rs111745868	byFrequency	TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr1:167097826A>C	ENST00000361200.2	+	6	3624	c.3458A>C	c.(3457-3459)cAg>cCg	p.Q1153P	DUSP27_ENST00000271385.5_Missense_Mutation_p.Q1153P|DUSP27_ENST00000443333.1_Missense_Mutation_p.Q1153P|DUSP27_ENST00000485151.1_Intron			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	1153					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						ACCAAGCTGCAGAAAAGGAGG	0.527000													13	27					0	0	0.479597	0	0
SLC12A5	57468	broad.mit.edu	37	20	44682333	44682333	+	Silent	SNP	C	C	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr20:44682333C>A	ENST00000454036.1	+	20	2809	c.2733C>A	c.(2731-2733)gtC>gtA	p.V911V	SLC12A5_ENST00000243964.3_Silent_p.V888V	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	911					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CTGCGGAGGTCGAGGTGGTGG	0.542000													51	100					1.0442e-30	1.61244e-30	0.870114	1	0
KEAP1	9817	broad.mit.edu	37	19	10602746	10602746	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr19:10602746G>A	ENST00000171111.5	-	3	1379	c.832C>T	c.(832-834)Ccg>Tcg	p.P278S	KEAP1_ENST00000588024.1_5'UTR|KEAP1_ENST00000393623.2_Missense_Mutation_p.P278S	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	278	BACK.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			AGGAAGTTCGGCGTCAACGAG	0.612000													35	20					0	0	0.788014	0	0
SNRPD3	6634	broad.mit.edu	37	22	24964111	24964111	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr22:24964111G>C	ENST00000215829.3	+	3	873	c.286G>C	c.(286-288)Ggc>Cgc	p.G96R	SNRPD3_ENST00000402849.1_Missense_Mutation_p.G96R	NM_001278656.1|NM_004175.3	NP_001265585.1|NP_004166.1	P62318	SMD3_HUMAN	small nuclear ribonucleoprotein D3 polypeptide 18kDa	96	Arg/Lys-rich (basic).				histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	enzyme binding|histone pre-mRNA DCP binding	p.G96C(1)|p.G96S(1)		endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6						CTCAGGGGCTGGCCGAGGAAA	0.458000													26	38					0	0	0.693898	0	0
SPRY2	10253	broad.mit.edu	37	13	80911269	80911269	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr13:80911269T>A	ENST00000377102.1	-	2	1549	c.572A>T	c.(571-573)tAc>tTc	p.Y191F	SPRY2_ENST00000377104.3_Missense_Mutation_p.Y191F|SPRY2_ENST00000540649.1_Missense_Mutation_p.Y191F			O43597	SPY2_HUMAN	sprouty homolog 2 (Drosophila)	191	Cys-rich.|SPR.				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of gene expression|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein kinase B signaling cascade	cytosol|microtubule|ruffle membrane	protein serine/threonine kinase activator activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	12	Medulloblastoma(90;0.18)	Acute lymphoblastic leukemia(28;0.218)|Breast(118;0.244)		GBM - Glioblastoma multiforme(99;0.0318)		AGGCCTTGGGTAGGTGCACTC	0.537000													32	48					0	0	0.729181	0	0
SGOL2	151246	broad.mit.edu	37	2	201436615	201436615	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr2:201436615G>C	ENST00000357799.4	+	7	1644	c.1546G>C	c.(1546-1548)Gag>Cag	p.E516Q		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	516					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding			NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						ATTTCACCAGGAGAGTAAATT	0.313000													49	51					0	0	0.870114	0	0
PRC1	9055	broad.mit.edu	37	15	91512795	91512795	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr15:91512795G>A	ENST00000361188.5	-	13	2842	c.1631C>T	c.(1630-1632)gCc>gTc	p.A544V	PRC1_ENST00000442656.2_Missense_Mutation_p.A503V|PRC1_ENST00000394249.3_Missense_Mutation_p.A544V|PRC1-AS1_ENST00000556200.1_RNA|PRC1-AS1_ENST00000554388.1_RNA|PRC1_ENST00000361919.3_Missense_Mutation_p.A544V			O43663	PRC1_HUMAN	protein regulator of cytokinesis 1	544	Unstructured, Arg/Lys rich.				cytokinesis|mitotic spindle elongation	cytoplasm|nucleus|spindle microtubule|spindle pole	protein binding			endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25	Lung NSC(78;0.0987)|all_lung(78;0.175)					CTCCTTGTTGGCTCCATGCCT	0.552000													28	83					0	0	0.729181	0	0
MCM4	4173	broad.mit.edu	37	8	48883348	48883348	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr8:48883348G>T	ENST00000262105.2	+	11	1921	c.1712G>T	c.(1711-1713)tGc>tTc	p.C571F	MCM4_ENST00000523944.1_Missense_Mutation_p.C571F	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	571	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				AACGGCATCTGCTGTATCGAT	0.498000													18	34					1.67942e-08	1.94953e-08	0.539581	1	0
BRINP3	339479	broad.mit.edu	37	1	190067402	190067402	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr1:190067402G>T	ENST00000367462.3	-	8	2278	c.2047C>A	c.(2047-2049)Ctg>Atg	p.L683M	FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Missense_Mutation_p.L581M	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		683						extracellular region		p.L683M(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					TGCAAAATCAGGTCCCGAATT	0.463000													58	84					1.93748e-29	2.93718e-29	0.870114	1	0
TSLP	85480	broad.mit.edu	37	5	110407631	110407631	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr5:110407631A>T	ENST00000420978.2	+	2	1465	c.43A>T	c.(43-45)Agg>Tgg	p.R15W	TSLP_ENST00000344895.3_Missense_Mutation_p.R15W			Q969D9	TSLP_HUMAN	thymic stromal lymphopoietin	15						extracellular space	cytokine activity			breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11		all_cancers(142;2.72e-05)|all_epithelial(76;4.39e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0417)|Ovarian(225;0.0443)|Colorectal(57;0.0464)|all_lung(232;0.0507)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.24e-08)|Epithelial(69;1.54e-07)|all cancers(49;1.73e-05)|COAD - Colon adenocarcinoma(37;0.109)		AGTTTCTTTCAGGAAAATCTT	0.408000													51	67					0	0	0.870114	0	0
TBX2	6909	broad.mit.edu	37	17	59483009	59483009	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr17:59483009C>A	ENST00000240328.3	+	6	1779	c.1498C>A	c.(1498-1500)Cct>Act	p.P500T	RP11-332H18.4_ENST00000592009.1_RNA	NM_005994.3	NP_005985.3	Q13207	TBX2_HUMAN	T-box 2	500	Gly-rich.				cell aging|positive regulation of cell proliferation		sequence-specific DNA binding			endometrium(1)|lung(7)|ovary(1)	9						CACCATGGGCCCTGGCGCCTT	0.716000													4	3					0.184627	0.186311	0.184627	1	0
PCDHGA2	56113	broad.mit.edu	37	5	140720243	140720243	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr5:140720243A>T	ENST00000394576.2	+	1	1705	c.1705A>T	c.(1705-1707)Aca>Tca	p.T569S	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCCTTCCCCACAGACGGTTC	0.637000													100	153					0	0	0.870114	0	0
PMS2	5395	broad.mit.edu	37	7	6029588	6029588	+	Splice_Site	SNP	T	T	C			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr7:6029588T>C	ENST00000265849.7	-	10	1094		c.e10-2		PMS2_ENST00000441476.2_Splice_Site|PMS2_ENST00000469652.1_Intron|PMS2_ENST00000406569.3_Splice_Site|PMS2_ENST00000382321.4_Intron	NM_000535.5	NP_000526.1	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)						mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		CAACGCATTCTAAGGCAAAAA	0.313000			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				18	17					0	0	0.520397	0	0
DNM1P46	196968	broad.mit.edu	37	15	100331207	100331207	+	RNA	SNP	G	G	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr15:100331207G>T	ENST00000341853.1	-	0	2984					NR_003260.1																						TGGGCTTGGAGCATTAAGGCC	0.562000													43	117					1.19451e-25	1.77044e-25	0.870114	1	0
OR5M3	219482	broad.mit.edu	37	11	56237637	56237637	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr11:56237637G>C	ENST00000312240.2	-	1	377	c.337C>G	c.(337-339)Ctt>Gtt	p.L113V		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	113					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					ATCGCAGCAAGAATAAAAATT	0.373000													43	90					0	0	0.847076	0	0
COL6A6	131873	broad.mit.edu	37	3	130284398	130284398	+	Silent	SNP	C	C	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr3:130284398C>A	ENST00000358511.6	+	3	1253	c.1222C>A	c.(1222-1224)Cgg>Agg	p.R408R	COL6A6_ENST00000453409.2_Silent_p.R408R	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	408	Nonhelical region.|VWFA 2.				axon guidance|cell adhesion	collagen		p.R408W(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GAAGAAGCTGCGGAACCAAAT	0.463000													8	13					5.18039e-06	5.75214e-06	0.278610	1	0
CCDC39	339829	broad.mit.edu	37	3	180372601	180372601	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr3:180372601A>T	ENST00000273654.4	-	13	1750	c.1131T>A	c.(1129-1131)tgT>tgA	p.C377*	CCDC39_ENST00000442201.2_Nonsense_Mutation_p.C293*			Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	293					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			ATGCCGTTCTACATTTTAAAA	0.358000													13	20					0	0	0.457914	0	0
GIMAP8	155038	broad.mit.edu	37	7	150174248	150174248	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr7:150174248G>T	ENST00000307271.3	+	5	1952	c.1378G>T	c.(1378-1380)Ggg>Tgg	p.G460W		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	460						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding	p.G460W(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		CTCTATCCTGGGGAGCCTCGT	0.592000													20	48					6.44725e-10	7.6996e-10	0.624587	1	0
LOC645166	645166	broad.mit.edu	37	1	148932838	148932838	+	RNA	SNP	G	G	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr1:148932838G>A	ENST00000539543.1	+	0	94					NR_027355.1																						GAGCTGCCCAGCATGGCTGCA	0.607000													47	205					0	0	0.870114	0	0
SALL1	6299	broad.mit.edu	37	16	51173592	51173592	+	Silent	SNP	G	G	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr16:51173592G>A	ENST00000440970.1	-	2	2681	c.2250C>T	c.(2248-2250)tcC>tcT	p.S750S	SALL1_ENST00000251020.4_Silent_p.S847S|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	847					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			AGCTGTCTTGGGAGGCGTCTG	0.488000													66	64					0	0	0.870114	0	0
LAMA3	3909	broad.mit.edu	37	18	21461922	21461922	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr18:21461922G>T	ENST00000313654.9	+	40	5376	c.5135G>T	c.(5134-5136)gGa>gTa	p.G1712V	LAMA3_ENST00000587184.1_Missense_Mutation_p.G103V|LAMA3_ENST00000399516.3_Missense_Mutation_p.G1712V|LAMA3_ENST00000269217.6_Missense_Mutation_p.G103V	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1712	Domain III A.|Laminin EGF-like 13.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AACACCGCGGGAGAGCACTGT	0.547000													10	20					1.08611e-07	1.24341e-07	0.387290	1	0
TRPM6	140803	broad.mit.edu	37	9	77436629	77436629	+	Silent	SNP	C	C	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr9:77436629C>A	ENST00000451710.3	-	8	1203	c.966G>T	c.(964-966)gcG>gcT	p.A322A	TRPM6_ENST00000360774.1_Silent_p.A322A|TRPM6_ENST00000376871.3_Silent_p.A322A|TRPM6_ENST00000361255.3_Silent_p.A317A|TRPM6_ENST00000449912.2_Silent_p.A317A|TRPM6_ENST00000483186.1_5'UTR|TRPM6_ENST00000376864.4_Silent_p.A322A|TRPM6_ENST00000376872.3_Silent_p.A322A			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	322					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GGAGGTCAGCCGCCCTACCTG	0.542000													32	22					1.62565e-12	2.04437e-12	0.760397	1	0
RNASE3	6037	broad.mit.edu	37	14	21360027	21360027	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr14:21360027G>A	ENST00000304639.3	+	2	240	c.182G>A	c.(181-183)cGa>cAa	p.R61Q		NM_002935.2	NP_002926.2	P12724	ECP_HUMAN	ribonuclease, RNase A family, 3	61					defense response to bacterium|RNA catabolic process	extracellular region|soluble fraction	nucleic acid binding|pancreatic ribonuclease activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)	9	all_cancers(95;0.00453)		OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)	Pranlukast(DB01411)	AACAATTATCGATGGCGTTGC	0.443000													26	25					0	0	0.667858	0	0
SLIT3	6586	broad.mit.edu	37	5	168671714	168671714	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr5:168671714C>A	ENST00000519560.1	-	3	755	c.336G>T	c.(334-336)gaG>gaT	p.E112D	SLIT3_ENST00000332966.8_Missense_Mutation_p.E112D|SLIT3_ENST00000404867.3_Missense_Mutation_p.E112D|SLIT3_ENST00000521130.1_5'UTR	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	112					apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTTACAGTCGCTCTAGCTGCT	0.413000													21	28					0.00152264	0.00160993	0.592651	1	0
PTPRG	5793	broad.mit.edu	37	3	62063885	62063885	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr3:62063885G>A	ENST00000474889.1	+	5	945	c.568G>A	c.(568-570)Gca>Aca	p.A190T	PTPRG_ENST00000295874.10_Missense_Mutation_p.A190T	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	190	Alpha-carbonic anhydrase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		CTTTCAAACCGCAATTTCTGA	0.294000													17	37					0	0	0.557998	0	0
TRPC6	7225	broad.mit.edu	37	11	101375429	101375429	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr11:101375429G>A	ENST00000344327.3	-	2	695	c.271C>T	c.(271-273)Cgc>Tgc	p.R91C	TRPC6_ENST00000348423.4_Missense_Mutation_p.R91C|TRPC6_ENST00000360497.4_Missense_Mutation_p.R91C|TRPC6_ENST00000532133.1_Missense_Mutation_p.R91C	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	91					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		CTTGTGGAGCGATCACTAAAC	0.507000													32	111					0	0	0.796494	0	0
CES1P1	51716	broad.mit.edu	37	16	55798733	55798733	+	RNA	SNP	G	G	C	rs78337607	by1000genomes	TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr16:55798733G>C	ENST00000571348.1	+	0	220					NR_003276.2																						TTGCCAAGCCGCCTCTTGGAC	0.547000													3	8					0	0	0.184627	0	0
HTR1E	3354	broad.mit.edu	37	6	87725995	87725995	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr6:87725995G>T	ENST00000305344.4	+	2	1646	c.943G>T	c.(943-945)Ggt>Tgt	p.G315C	HTR1E_ENST00000369584.1_Missense_Mutation_p.G315C	NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	315					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	GTTGATTGTGGGTCTGAGCAT	0.498000													71	55					7.46257e-40	1.19114e-39	0.870114	1	0
PDS5B	23047	broad.mit.edu	37	13	33247430	33247430	+	Silent	SNP	G	G	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr13:33247430G>A	ENST00000315596.10	+	8	969	c.783G>A	c.(781-783)gaG>gaA	p.E261E		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	261					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		TAATTTTGGAGCTCTACAATA	0.338000													27	54					0	0	0.706142	0	0
GDF2	2658	broad.mit.edu	37	10	48413967	48413967	+	Missense_Mutation	SNP	C	C	G	rs41314469		TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr10:48413967C>G	ENST00000249598.1	-	2	1060	c.901G>C	c.(901-903)Gag>Cag	p.E301Q		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	301					activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						GTGTCCTCCTCGTGACTGCTC	0.622000													29	47					0	0	0.729181	0	0
OR2L13	284521	broad.mit.edu	37	1	248263312	248263312	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr1:248263312G>T	ENST00000366478.2	+	3	972	c.635G>T	c.(634-636)gGc>gTc	p.G212V	OR2L13_ENST00000358120.2_Missense_Mutation_p.G212V	NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	212					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding	p.G212D(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			CCTTTCATTGGCATCACTTCT	0.428000													35	74					2.42023e-17	3.34799e-17	0.779181	1	0
SMTNL1	219537	broad.mit.edu	37	11	57317484	57317484	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr11:57317484G>A	ENST00000457912.1	+	8	1438	c.1438G>A	c.(1438-1440)Gtg>Atg	p.V480M	SMTNL1_ENST00000399154.2_Missense_Mutation_p.V425M|SMTNL1_ENST00000527972.1_Missense_Mutation_p.V462M			E9PPJ3	E9PPJ3_HUMAN	smoothelin-like 1	462										endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						GGATGACATGGTGCGGTTGGC	0.537000													12	27					0	0	0.411799	0	0
SLC39A12	221074	broad.mit.edu	37	10	18270307	18270307	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr10:18270307G>T	ENST00000377369.2	+	6	1264	c.991G>T	c.(991-993)Gag>Tag	p.E331*	SLC39A12_ENST00000377374.4_Nonsense_Mutation_p.E331*|SLC39A12_ENST00000377371.3_Nonsense_Mutation_p.E331*|SLC39A12_ENST00000539911.1_Nonsense_Mutation_p.E197*	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	331					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						CATTTCTAAGGAGGACTTTAA	0.483000													24	59					1.64293e-13	2.11416e-13	0.654019	1	0
ASS1	445	broad.mit.edu	37	9	133333920	133333920	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr9:133333920G>C	ENST00000372394.1	+	5	788	c.307G>C	c.(307-309)Gtg>Ctg	p.V103L	ASS1_ENST00000352480.5_Missense_Mutation_p.V103L|ASS1_ENST00000372393.3_Missense_Mutation_p.V103L			P00966	ASSY_HUMAN	argininosuccinate synthase 1	103					arginine biosynthetic process|urea cycle	cytosol	argininosuccinate synthase activity|ATP binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	CCGCAAACAAGTGGAAATCGC	0.652000													3	55					0	0	0.115264	0	0
OR6N1	128372	broad.mit.edu	37	1	158736044	158736044	+	Silent	SNP	C	C	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr1:158736044C>T	ENST00000335094.2	-	1	448	c.429G>A	c.(427-429)gaG>gaA	p.E143E		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	143					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					CAATGGCAATCTCTGCACAAA	0.537000													12	34					0	0	0.411799	0	0
WIPF1	7456	broad.mit.edu	37	2	175437061	175437061	+	Silent	SNP	T	T	G			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr2:175437061T>G	ENST00000392547.2	-	5	571	c.472A>C	c.(472-474)Aga>Cga	p.R158R	AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000359761.3_Silent_p.R158R|WIPF1_ENST00000409891.1_Silent_p.R158R|AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000409415.3_Silent_p.R158R|WIPF1_ENST00000392546.2_Silent_p.R158R|WIPF1_ENST00000272746.5_Silent_p.R158R	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	158					actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding			NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						GGACCACTTCTGTGGCCTGGA	0.602000													18	64					0	0	0.539581	0	0
NPY4R	5540	broad.mit.edu	37	10	47087797	47087797	+	Silent	SNP	G	G	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr10:47087797G>T	ENST00000374312.1	+	3	1433	c.1014G>T	c.(1012-1014)ctG>ctT	p.L338L	NPY4R_ENST00000395716.1_Silent_p.L338L	NM_005972.4	NP_005963.3			neuropeptide Y receptor Y4																		CCCTGGTGCTGACTTGCCAGC	0.567000													21	83					5.26018e-13	6.69111e-13	0.608945	1	0
STK11	6794	broad.mit.edu	37	19	1221261	1221261	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr19:1221261A>T	ENST00000326873.7	+	6	1957	c.784A>T	c.(784-786)Aag>Tag	p.K262*		NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	262	Protein kinase.				anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(20)|p.?(2)|p.Y246fs*3(1)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		CAACATCTACAAGTTGTTTGA	0.582000		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)			12	4					0	0	0.435327	0	0
DRD2	1813	broad.mit.edu	37	11	113295259	113295259	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr11:113295259T>A	ENST00000362072.3	-	2	459	c.115A>T	c.(115-117)Aca>Tca	p.T39S	DRD2_ENST00000355319.2_Missense_Mutation_p.T39S|DRD2_ENST00000346454.3_Missense_Mutation_p.T39S|DRD2_ENST00000544518.1_Missense_Mutation_p.T39S|DRD2_ENST00000538967.1_Missense_Mutation_p.T39S|DRD2_ENST00000542968.1_Missense_Mutation_p.T39S	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	39					activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	GTGAGCAGTGTGGCATAGTAG	0.587000													30	54					0	0	0.740014	0	0
MTUS2	23281	broad.mit.edu	37	13	30062124	30062124	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr13:30062124C>A	ENST00000431530.3	+	9	3575	c.3517C>A	c.(3517-3519)Cac>Aac	p.H1173N	MTUS2_ENST00000542829.1_Missense_Mutation_p.H52N|MTUS2_ENST00000380808.2_Missense_Mutation_p.H142N	NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	1163						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						GCAGGATGACCACGACCACAA	0.577000													23	63					1.33986e-20	1.94251e-20	0.681144	1	0
PCDH18	54510	broad.mit.edu	37	4	138442835	138442835	+	Missense_Mutation	SNP	G	G	T	rs139751813		TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr4:138442835G>T	ENST00000344876.4	-	4	3142	c.2756C>A	c.(2755-2757)aCg>aAg	p.T919K	PCDH18_ENST00000511115.1_Missense_Mutation_p.T99K|PCDH18_ENST00000412923.2_Missense_Mutation_p.T918K|PCDH18_ENST00000510305.1_Missense_Mutation_p.T130K|PCDH18_ENST00000507846.1_Missense_Mutation_p.T698K	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	919	Interaction with DAB1 (By similarity).				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					GCACTCCTCCGTGCAGAGTCT	0.433000													67	71					3.00472e-47	4.81917e-47	0.870114	1	0
C1orf173	127254	broad.mit.edu	37	1	75065541	75065541	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr1:75065541G>C	ENST00000326665.5	-	11	1782	c.1564C>G	c.(1564-1566)Caa>Gaa	p.Q522E	C1orf173_ENST00000420661.2_Missense_Mutation_p.Q325E|RP4-612J11.1_ENST00000416017.1_RNA	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	522	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CCATTCATTTGAACATCAGCC	0.383000													33	140					0	0	0.779181	0	0
FAM46D	169966	broad.mit.edu	37	X	79699185	79699185	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chrX:79699185C>T	ENST00000538312.1	+	5	1481	c.1147C>T	c.(1147-1149)Cgt>Tgt	p.R383C	FAM46D_ENST00000308293.5_Missense_Mutation_p.R383C	NM_001170574.1	NP_001164045.1	Q8NEK8	FA46D_HUMAN	family with sequence similarity 46, member D	383										kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						ACTGCACTTTCGTGGATCAAA	0.403000													15	6					0	0	0.557998	0	0
RP1L1	94137	broad.mit.edu	37	8	10467346	10467346	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr8:10467346G>T	ENST00000382483.3	-	4	4485	c.4262C>A	c.(4261-4263)tCc>tAc	p.S1421Y		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1421					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		ATCTTCCTGGGAGCCTTTCCC	0.607000													166	362					2.05284e-59	3.3246e-59	0.870114	1	0
GALNT15	117248	broad.mit.edu	37	3	16237266	16237266	+	Splice_Site	SNP	G	G	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr3:16237266G>A	ENST00000339732.5	+	2	1042		c.e2-1		GALNT15_ENST00000437509.1_Splice_Site	NM_054110.4	NP_473451.3			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15																		CTTCCCTGCAGGTGTCTGCAG	0.597000													10	33					0	0	0.361761	0	0
GLT8D2	83468	broad.mit.edu	37	12	104393232	104393232	+	Silent	SNP	C	C	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr12:104393232C>T	ENST00000360814.4	-	6	750	c.345G>A	c.(343-345)ccG>ccA	p.P115P	GLT8D2_ENST00000548660.1_Silent_p.P115P|GLT8D2_ENST00000546436.1_Silent_p.P115P	NM_031302.3	NP_112592.1	Q9H1C3	GL8D2_HUMAN	glycosyltransferase 8 domain containing 2	115						integral to membrane	transferase activity, transferring glycosyl groups			kidney(3)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						TGAGGACCATCGGGTTGAATT	0.438000													66	43					0	0	0.870114	0	0
DNM1P46	196968	broad.mit.edu	37	15	100331208	100331208	+	RNA	SNP	C	C	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr15:100331208C>A	ENST00000341853.1	-	0	2983					NR_003260.1																						GGGCTTGGAGCATTAAGGCCA	0.567000													43	117					4.64027e-19	6.64038e-19	0.870114	1	0
SOCS6	9306	broad.mit.edu	37	18	67992908	67992908	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr18:67992908A>T	ENST00000397942.3	+	2	1320	c.1004A>T	c.(1003-1005)cAc>cTc	p.H335L	SOCS6_ENST00000582322.1_Missense_Mutation_p.H335L	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	335					defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth	cytoplasm				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				ACAGAAGCCCACGTGGCTGAA	0.488000													13	42					0	0	0.435327	0	0
BOC	91653	broad.mit.edu	37	3	112993230	112993230	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr3:112993230C>A	ENST00000495514.1	+	9	1947	c.1243C>A	c.(1243-1245)Cca>Aca	p.P415T	BOC_ENST00000273395.4_Missense_Mutation_p.P415T|BOC_ENST00000355385.3_Missense_Mutation_p.P415T			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	415					cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			AGGCATAACCCCAAGGCTATG	0.552000													22	62					5.35356e-11	6.5586e-11	0.639603	1	0
TAS2R60	338398	broad.mit.edu	37	7	143140732	143140732	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr7:143140732G>T	ENST00000332690.1	+	1	187	c.187G>T	c.(187-189)Ggg>Tgg	p.G63W	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	63					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					GGTTAGCCTAGGGGCCTCTCG	0.498000													63	61					1.53122e-18	2.18182e-18	0.870114	1	0
SRSF2	6427	broad.mit.edu	37	17	74732914	74732914	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr17:74732914T>C	ENST00000392485.2	-	1	501	c.329A>G	c.(328-330)tAc>tGc	p.Y110C	RP11-318A15.7_ENST00000587459.1_Intron|MFSD11_ENST00000588460.1_5'UTR|SRSF2_ENST00000508921.3_Intron|SRSF2_ENST00000359995.5_Missense_Mutation_p.Y110C|MFSD11_ENST00000586622.1_5'UTR	NM_003016.4	NP_003007.2	Q01130	SRSF2_HUMAN	serine/arginine-rich splicing factor 2	110					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|protein binding|RNA binding|transcription corepressor activity			haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)	329						ACCGCCCCCGTACCTGCGGGG	0.786000			Mis		"""MDS, CLL"""								9	22					0	0	0.335167	0	0
FBXO15	201456	broad.mit.edu	37	18	71793305	71793305	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr18:71793305T>A	ENST00000269500.5	-	6	924	c.589A>T	c.(589-591)Aat>Tat	p.N197Y	FBXO15_ENST00000419743.2_Missense_Mutation_p.N273Y	NM_152676.2	NP_689889.1	Q8NCQ5	FBX15_HUMAN	F-box protein 15	197										autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		TGACTCAGATTGTACTTTGCA	0.463000													27	93					0	0	0.729181	0	0
GPR148	344561	broad.mit.edu	37	2	131486911	131486911	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr2:131486911A>T	ENST00000309926.4	+	1	269	c.187A>T	c.(187-189)Aca>Tca	p.T63S		NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	63						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					GGCTGCAGCCACACTGGCTGT	0.632000													32	36					0	0	0.760397	0	0
ZFHX4	79776	broad.mit.edu	37	8	77761847	77761847	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr8:77761847C>T	ENST00000521891.2	+	8	4193	c.3745C>T	c.(3745-3747)Cct>Tct	p.P1249S	ZFHX4_ENST00000518282.1_Missense_Mutation_p.P1223S|ZFHX4_ENST00000455469.2_Missense_Mutation_p.P1204S|ZFHX4_ENST00000050961.6_Missense_Mutation_p.P1204S	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1204						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CATCTGCTGTCCTCTCTGTCA	0.488000										HNSCC(33;0.089)			10	66					0	0	0.335167	0	0
UBBP4	23666	broad.mit.edu	37	17	21731316	21731316	+	Silent	SNP	A	A	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr17:21731316A>T	ENST00000584755.1	+	2	1015	c.618A>T	c.(616-618)gtA>gtT	p.V206V	UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000578713.1_Intron																endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						AGATGGCGGTACTCTTTCTGA	0.517000													49	52					0	0	0.870114	0	0
TVP23C	201158	broad.mit.edu	37	17	15406338	15406338	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr17:15406338G>A	ENST00000225576.3	-	6	766	c.671C>T	c.(670-672)cCa>cTa	p.P224L	TVP23C_ENST00000519970.1_Intron|TVP23C-CDRT4_ENST00000522212.2_Intron	NM_145301.2	NP_660344.2			trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)																		ACGAAGAGGTGGAGAACTAAG	0.587000													16	49					0	0	0.479597	0	0
GBP4	115361	broad.mit.edu	37	1	89662846	89662846	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr1:89662846A>G	ENST00000355754.6	-	2	279	c.182T>C	c.(181-183)cTa>cCa	p.L61P		NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	61						cytoplasm	GTP binding|GTPase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		TGTGCGGTATAGCCCTACAAT	0.478000													27	35					0	0	0.693898	0	0
CNTN5	53942	broad.mit.edu	37	11	99941210	99941210	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr11:99941210C>A	ENST00000524871.1	+	11	1507	c.1217C>A	c.(1216-1218)cCt>cAt	p.P406H	CNTN5_ENST00000528682.1_Missense_Mutation_p.P406H|CNTN5_ENST00000279463.3_Missense_Mutation_p.P406H|CNTN5_ENST00000527185.1_Missense_Mutation_p.P406H|CNTN5_ENST00000418526.2_Missense_Mutation_p.P332H	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	406	Ig-like C2-type 4.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		AGTGGGAGCCCTCTCCGATGG	0.458000													6	24					0.00116845	0.00123937	0.217242	1	0
SPTLC3	55304	broad.mit.edu	37	20	13055137	13055137	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr20:13055137A>T	ENST00000399002.2	+	4	873	c.599A>T	c.(598-600)cAt>cTt	p.H200L	SPTLC3_ENST00000378194.4_Missense_Mutation_p.H200L	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	200					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	AGCACCAGGCATGAAATGGGT	0.423000													73	109					0	0	0.870114	0	0
RP11-50E11.3	0	broad.mit.edu	37	10	52389893	52389893	+	RNA	SNP	G	G	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr10:52389893G>T	ENST00000443374.1	+	0	586																											TGTATGCTGGGTCGTTTTCCT	0.403000													10	20					4.68919e-08	5.38689e-08	0.361761	1	0
OR4C12	283093	broad.mit.edu	37	11	50003155	50003155	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr11:50003155C>T	ENST00000335238.4	-	1	916	c.883G>A	c.(883-885)Gca>Aca	p.A295T		NM_001005270.2	NP_001005270.1	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	295					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						TTCCTTATTGCACTTTTTACC	0.368000													13	51					0	0	0.435327	0	0
AMDHD1	144193	broad.mit.edu	37	12	96350688	96350688	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr12:96350688G>A	ENST00000266736.2	+	4	641	c.535G>A	c.(535-537)Gag>Aag	p.E179K		NM_152435.2	NP_689648.2	Q96NU7	HUTI_HUMAN	amidohydrolase domain containing 1	179					histidine catabolic process to glutamate and formamide	cytosol	imidazolonepropionase activity|metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						CGCCCGGCGGGAGCTGGACAT	0.602000													6	137					0	0	0.217242	0	0
LINC00922	283867	broad.mit.edu	37	16	65345315	65345315	+	RNA	SNP	A	A	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr16:65345315A>T	ENST00000569736.1	-	0	819				RP11-256I9.3_ENST00000562656.1_lincRNA	NR_027755.1																						GGAGGTACTCACCTTCGTGAG	0.403000													30	73					0	0	0.760397	0	0
GRIK3	2899	broad.mit.edu	37	1	37307529	37307529	+	Silent	SNP	G	G	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr1:37307529G>A	ENST00000373091.3	-	10	1354	c.1338C>T	c.(1336-1338)ttC>ttT	p.F446F	GRIK3_ENST00000373093.4_Silent_p.F446F	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	446					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	GAAACATGACGAAGGGCTCCT	0.577000													6	98					0	0	0.248553	0	0
MSH5-SAPCD1	100532732	broad.mit.edu	37	6	31727709	31727709	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr6:31727709C>A	ENST00000493662.2	+	18	1749	c.1693C>A	c.(1693-1695)Cgt>Agt	p.R565S	MSH5_ENST00000395853.1_Missense_Mutation_p.R222S|MSH5_ENST00000375750.3_Missense_Mutation_p.R548S|MSH5_ENST00000375742.3_Missense_Mutation_p.R565S|MSH5_ENST00000431848.2_Missense_Mutation_p.R247S|MSH5_ENST00000375703.3_Missense_Mutation_p.R548S|MSH5_ENST00000375740.3_Missense_Mutation_p.R565S|MSH5_ENST00000375755.3_Missense_Mutation_p.R548S|MSH5_ENST00000534153.4_Missense_Mutation_p.R565S																							CTCAAGGCCGCGTTACTCCCC	0.572000													34	59					4.31634e-10	5.21099e-10	0.760397	1	0
OR2L13	284521	broad.mit.edu	37	1	248263049	248263049	+	Silent	SNP	C	C	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr1:248263049C>A	ENST00000366478.2	+	3	709	c.372C>A	c.(370-372)gcC>gcA	p.A124A	OR2L13_ENST00000358120.2_Silent_p.A124A	NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	124					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			GTTATTTGGCCATCTGCCACT	0.502000													61	273					1.12357e-39	1.78481e-39	0.870114	1	0
PELI2	57161	broad.mit.edu	37	14	56746457	56746457	+	Missense_Mutation	SNP	G	G	A	rs151092148		TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr14:56746457G>A	ENST00000267460.4	+	3	557	c.271G>A	c.(271-273)Gtg>Atg	p.V91M		NM_021255.2	NP_067078.1	Q9HAT8	PELI2_HUMAN	pellino E3 ubiquitin protein ligase family member 2	91					innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	protein binding			kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	22						GACTGTGGTGGTGGAGTACAC	0.303000													38	63					0	0	0.853193	0	0
IGHV4OR15-8	28317	broad.mit.edu	37	15	22473040	22473040	+	RNA	SNP	G	G	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr15:22473040G>T	ENST00000557788.2	-	0	230																											GGTTGTAGTTGGGGCTCCCAC	0.582000													33	274					6.84511e-11	8.35506e-11	0.779181	1	0
INPP5J	27124	broad.mit.edu	37	22	31523954	31523954	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr22:31523954G>T	ENST00000331075.5	+	7	1854	c.1805G>T	c.(1804-1806)gGg>gTg	p.G602V	INPP5J_ENST00000400294.2_Missense_Mutation_p.G235V|INPP5J_ENST00000401755.1_5'UTR|INPP5J_ENST00000402238.1_5'UTR|INPP5J_ENST00000404390.3_Missense_Mutation_p.G234V|INPP5J_ENST00000412277.2_Missense_Mutation_p.G535V|INPP5J_ENST00000405300.1_Missense_Mutation_p.G235V|INPP5J_ENST00000404453.1_5'UTR			Q15735	PI5PA_HUMAN	inositol polyphosphate-5-phosphatase J	602	Catalytic (Potential).					cytoplasm|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|SH3 domain binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						TTCTGGTTCGGGGACCTGAAC	0.587000													12	28					4.3838e-07	4.93363e-07	0.435327	1	0
C5orf20	140947	broad.mit.edu	37	5	134782574	134782574	+	Silent	SNP	G	G	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr5:134782574G>T	ENST00000503143.2	-	1	464	c.225C>A	c.(223-225)acC>acA	p.T75T	TIFAB_ENST00000537858.1_3'UTR	NM_130848.2	NP_570900.1	Q8TF63	DCNP1_HUMAN	chromosome 5 open reading frame 20	75			T -> P (in dbSNP:rs1031844).			nucleus				endometrium(1)|lung(1)|prostate(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CAGCTGGCAAGGTTTTGTTCC	0.602000													15	43					1.05317e-09	1.24432e-09	0.457914	1	0
CETN1	1068	broad.mit.edu	37	18	580499	580499	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr18:580499C>A	ENST00000327228.3	+	1	133	c.91C>A	c.(91-93)Caa>Aaa	p.Q31K		NM_004066.1	NP_004057.1	Q12798	CETN1_HUMAN	centrin, EF-hand protein, 1	31	EF-hand 1.				cell division|mitosis	spindle pole	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2)	25						GGATCAGAAGCAAGAAGTTCG	0.597000													16	12					1.3612e-06	1.52161e-06	0.479597	1	0
RYR3	6263	broad.mit.edu	37	15	34145788	34145788	+	Silent	SNP	A	A	G			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr15:34145788A>G	ENST00000389232.4	+	96	13774	c.13704A>G	c.(13702-13704)gcA>gcG	p.A4568A	RYR3_ENST00000415757.3_Silent_p.A4563A|RYR3_ENST00000559917.1_3'UTR	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4568					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TCTACGGAGCAGAACGCATTG	0.488000													9	32					0	0	0.307466	0	0
TRPC6	7225	broad.mit.edu	37	11	101375428	101375428	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr11:101375428C>G	ENST00000344327.3	-	2	696	c.272G>C	c.(271-273)cGc>cCc	p.R91P	TRPC6_ENST00000348423.4_Missense_Mutation_p.R91P|TRPC6_ENST00000360497.4_Missense_Mutation_p.R91P|TRPC6_ENST00000532133.1_Missense_Mutation_p.R91P	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	91					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		GCTTGTGGAGCGATCACTAAA	0.507000													33	108					0	0	0.804634	0	0
LCT	3938	broad.mit.edu	37	2	136562352	136562352	+	Silent	SNP	G	G	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr2:136562352G>A	ENST00000264162.2	-	10	4459	c.4449C>T	c.(4447-4449)gcC>gcT	p.A1483A		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1483	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		GCTGGATGCTGGCGGCCAGCA	0.562000													14	51					0	0	0.500413	0	0
CLPTM1	1209	broad.mit.edu	37	19	45488522	45488522	+	Silent	SNP	G	G	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr19:45488522G>T	ENST00000541297.2	+	6	1056	c.591G>T	c.(589-591)ctG>ctT	p.L197L	CLPTM1_ENST00000589158.1_3'UTR|CLPTM1_ENST00000546079.1_Silent_p.L109L|CLPTM1_ENST00000337392.5_Silent_p.L211L			O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1	211					cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		CCAAGAACCTGCTGACAGGAG	0.542000													9	10					3.86212e-05	4.23176e-05	0.361761	1	0
GRM5	2915	broad.mit.edu	37	11	88338066	88338066	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr11:88338066T>C	ENST00000418177.2	-	5	1581	c.1214A>G	c.(1213-1215)tAt>tGt	p.Y405C	GRM5_ENST00000393297.1_Missense_Mutation_p.Y405C|GRM5_ENST00000455756.2_Missense_Mutation_p.Y405C|GRM5_ENST00000305432.5_Missense_Mutation_p.Y405C|GRM5_ENST00000305447.4_Missense_Mutation_p.Y405C			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	405					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	GGCCATCGAATAGATGGCGTT	0.458000													12	59					0	0	0.387290	0	0
DIP2A	23181	broad.mit.edu	37	21	47970476	47970476	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr21:47970476G>T	ENST00000318711.7	+	23	2844	c.2661G>T	c.(2659-2661)caG>caT	p.Q887H	DIP2A_ENST00000417564.2_Missense_Mutation_p.Q886H|DIP2A_ENST00000400274.1_Missense_Mutation_p.Q882H|DIP2A_ENST00000427143.2_Missense_Mutation_p.Q822H	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	886					multicellular organismal development	nucleus	catalytic activity|transcription factor binding	p.Q886H(1)|p.Q822H(1)|p.Q887H(1)		cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		GCATCCACCAGGTGGGCGTGT	0.582000													15	14					1.37285e-15	1.86036e-15	0.500413	1	0
MVP	9961	broad.mit.edu	37	16	29848101	29848101	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr16:29848101G>T	ENST00000357402.5	+	7	869	c.731G>T	c.(730-732)cGc>cTc	p.R244L	MVP_ENST00000395353.1_Missense_Mutation_p.R244L|MVP_ENST00000452209.2_Silent_p.P58P	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	244					mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						GTGTCCCGCCGCACTGGGGAG	0.637000													21	29					1.22574e-08	1.42788e-08	0.624587	1	0
SCFD2	152579	broad.mit.edu	37	4	54231754	54231754	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr4:54231754G>C	ENST00000401642.3	-	1	488	c.355C>G	c.(355-357)Cca>Gca	p.P119A	SCFD2_ENST00000388940.4_Missense_Mutation_p.P119A	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	119					protein transport|vesicle docking involved in exocytosis					breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			GCCGCCGCTGGGACATGATTA	0.597000													21	26					0	0	0.608945	0	0
SNX7	51375	broad.mit.edu	37	1	99156702	99156702	+	Silent	SNP	G	G	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr1:99156702G>A	ENST00000370189.5	+	4	607	c.243G>A	c.(241-243)aaG>aaA	p.K81K	SNX7_ENST00000306121.3_Silent_p.K145K|SNX7_ENST00000529992.1_Silent_p.K145K			Q9UNH6	SNX7_HUMAN	sorting nexin 7	81	PX.				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	13		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)		Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234)		TTTGGTTGAAGGGAAAACTGG	0.368000													11	30					0	0	0.361761	0	0
FAM171B	165215	broad.mit.edu	37	2	187627263	187627263	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr2:187627263C>T	ENST00000304698.5	+	8	2397	c.2194C>T	c.(2194-2196)Cag>Tag	p.Q732*		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	732						integral to membrane	DNA binding			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						AAGCATGCATCAGCCCAAGAT	0.483000													5	85					0	0	0.184627	0	0
EIF2B3	8891	broad.mit.edu	37	1	45323445	45323445	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr1:45323445C>A	ENST00000360403.2	-	11	1363	c.1237G>T	c.(1237-1239)Gct>Tct	p.A413S		NM_001261418.1|NM_020365.4	NP_001248347.1|NP_065098.1	Q9NR50	EI2BG_HUMAN	eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa	413					negative regulation of translational initiation in response to stress|oligodendrocyte development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	nucleotidyltransferase activity|protein binding|translation initiation factor activity			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	17	Acute lymphoblastic leukemia(166;0.155)					TCGATCACAGCATTGTTGCAG	0.458000													52	60					6.56871e-35	1.03356e-34	0.870114	1	0
VIM	7431	broad.mit.edu	37	10	17275634	17275634	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr10:17275634G>T	ENST00000544301.1	+	4	1086	c.673G>T	c.(673-675)Gaa>Taa	p.E225*	RP11-124N14.3_ENST00000456355.1_RNA|VIM_ENST00000224237.5_Nonsense_Mutation_p.E225*	NM_003380.3	NP_003371.2	P08670	VIME_HUMAN	vimentin	225	Coil 1B.|Rod.				cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding	cytosol|intermediate filament	protein C-terminus binding|structural constituent of cytoskeleton			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ACGCAAAGTGGAATCTTTGCA	0.458000													30	38					4.74835e-14	6.20651e-14	0.750413	1	0
MTMR14	64419	broad.mit.edu	37	3	9730437	9730437	+	Splice_Site	SNP	G	G	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr3:9730437G>A	ENST00000296003.4	+	15	1415	c.1294_splice	c.e15+1	p.L431_splice	MTMR14_ENST00000420925.1_Splice_Site_p.L185_splice|MTMR14_ENST00000351233.5_Splice_Site_p.L431_splice|MTMR14_ENST00000353332.5_Splice_Site_p.L431_splice	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN	myotubularin related protein 14	431						perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					TCTGCATGCTGAGTGAGTCCT	0.498000													5	68					0	0	0.184627	0	0
NPY1R	4886	broad.mit.edu	37	4	164247218	164247218	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr4:164247218C>A	ENST00000296533.2	-	2	1020	c.489G>T	c.(487-489)tgG>tgT	p.W163C	NPY1R_ENST00000509586.1_Intron	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	163					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CAGCAAGGACCCAAATCACAG	0.438000													57	44					1.59911e-31	2.49251e-31	0.870114	1	0
CALCR	799	broad.mit.edu	37	7	93063564	93063564	+	Splice_Site	SNP	C	C	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr7:93063564C>A	ENST00000359558.2	-	15	1593		c.e15+1		CALCR_ENST00000394441.1_Splice_Site|CALCR_ENST00000421592.1_Splice_Site|CALCR_ENST00000426151.1_Splice_Site|CALCR_ENST00000360249.4_Splice_Site	NM_001164737.1	NP_001158209.1	P30988	CALCR_HUMAN	calcitonin receptor						activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	TGCATGCTTACCTCATTGTTG	0.358000													26	45					6.38683e-12	7.97153e-12	0.729181	1	0
SLC18A2	6571	broad.mit.edu	37	10	119013584	119013584	+	Silent	SNP	C	C	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr10:119013584C>A	ENST00000298472.5	+	5	692	c.549C>A	c.(547-549)gcC>gcA	p.A183A	SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	183					neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)	GCAGCTATGCCTTCCTGCTGA	0.597000													63	103					3.30712e-30	5.03653e-30	0.870114	1	0
KCNJ2	3759	broad.mit.edu	37	17	68171198	68171198	+	Silent	SNP	C	C	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr17:68171198C>A	ENST00000243457.3	+	2	401	c.18C>A	c.(16-18)acC>acA	p.T6T	KCNJ2_ENST00000535240.1_Silent_p.T6T	NM_000891.2	NP_000882.1	P63252	IRK2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	6					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					GTGTGCGAACCAACCGCTACA	0.493000													15	27					2.35188e-11	2.90269e-11	0.539581	1	0
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537000													5	63					0	0	0.184627	0	0
KIAA1644	85352	broad.mit.edu	37	22	44681338	44681338	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr22:44681338G>T	ENST00000381176.4	-	4	701	c.569C>A	c.(568-570)cCg>cAg	p.P190Q		NM_001099294.1	NP_001092764.1	Q3SXP7	K1644_HUMAN	KIAA1644	190						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9		all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222)				GGTCATCAGCGGTGGGCTGTG	0.617000													24	70					3.73988e-18	5.30616e-18	0.706142	1	0
FRY	10129	broad.mit.edu	37	13	32745188	32745188	+	Silent	SNP	A	A	C			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr13:32745188A>C	ENST00000380250.3	+	18	2428	c.1932A>C	c.(1930-1932)gcA>gcC	p.A644A		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	644					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		GACATATTGCACAAAATTCTC	0.363000													41	85					0	0	0.853193	0	0
SLC39A6	25800	broad.mit.edu	37	18	33704551	33704551	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr18:33704551C>A	ENST00000269187.5	-	3	1115	c.902G>T	c.(901-903)aGa>aTa	p.R301I	SLC39A6_ENST00000590986.1_Missense_Mutation_p.R301I|SLC39A6_ENST00000440549.2_Missense_Mutation_p.R26I	NM_012319.3	NP_036451.3	Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter), member 6	301						integral to membrane|lamellipodium membrane	zinc ion transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	41						CAGACAAGATCTAGCATCAAT	0.383000													19	58					1.56452e-12	1.97499e-12	0.557998	1	0
ZFHX4	79776	broad.mit.edu	37	8	77766851	77766851	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr8:77766851C>A	ENST00000521891.2	+	10	8142	c.7694C>A	c.(7693-7695)tCc>tAc	p.S2565Y	ZFHX4_ENST00000518282.1_Missense_Mutation_p.S2539Y|ZFHX4_ENST00000455469.2_Missense_Mutation_p.S2520Y|ZFHX4_ENST00000050961.6_Missense_Mutation_p.S2520Y	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2520						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CAGGCCAGTTCCTCCCACACC	0.498000										HNSCC(33;0.089)			32	52					5.60225e-13	7.09903e-13	0.740014	1	0
NOX5	79400	broad.mit.edu	37	15	69339834	69339834	+	Missense_Mutation	SNP	G	G	A	rs145431252		TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr15:69339834G>A	ENST00000260364.5	+	13	2021	c.1720G>A	c.(1720-1722)Ggc>Agc	p.G574S	NOX5_ENST00000448182.3_Missense_Mutation_p.G546S|NOX5_ENST00000455873.3_Missense_Mutation_p.G557S|NOX5_ENST00000525163.1_3'UTR|NOX5_ENST00000388866.3_Missense_Mutation_p.G592S|NOX5_ENST00000530406.2_Missense_Mutation_p.G564S			Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	592	FAD-binding FR-type.				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						GGCAGGCATCGGCATCACCCC	0.602000													11	41					0	0	0.411799	0	0
PRSS38	339501	broad.mit.edu	37	1	228003938	228003938	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr1:228003938C>A	ENST00000366757.3	+	2	320	c.296C>A	c.(295-297)gCg>gAg	p.A99E		NM_183062.2	NP_898885.1	A1L453	PRS38_HUMAN	protease, serine, 38	99	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						CTGTCAGCTGCGCACTGCTTT	0.672000													49	102					1.30916e-28	1.95785e-28	0.870114	1	0
ZNF804A	91752	broad.mit.edu	37	2	185801006	185801006	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr2:185801006G>T	ENST00000302277.6	+	4	1477	c.883G>T	c.(883-885)Gag>Tag	p.E295*		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	295						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TCAAACTCAAGAGATAAAAGA	0.348000													38	34					1.36161e-19	1.95695e-19	0.796494	1	0
MCTP2	55784	broad.mit.edu	37	15	94841680	94841680	+	Silent	SNP	C	C	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr15:94841680C>T	ENST00000357742.4	+	1	186	c.186C>T	c.(184-186)gcC>gcT	p.A62A	MCTP2_ENST00000451018.3_Silent_p.A62A|MCTP2_ENST00000331706.4_5'UTR|MCTP2_ENST00000543482.1_Silent_p.A62A	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	62					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			AGGCCTTGGCCCCAGAGGGCC	0.607000													22	49					0	0	0.608945	0	0
PCDHB11	56125	broad.mit.edu	37	5	140580431	140580431	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr5:140580431G>C	ENST00000354757.3	+	1	1084	c.1084G>C	c.(1084-1086)Gag>Cag	p.E362Q	PCDHB11_ENST00000536699.1_5'UTR	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		362	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAATACGCCAGAGACCGTGGT	0.408000													38	79					0	0	0.804634	0	0
DLX2	1746	broad.mit.edu	37	2	172965613	172965613	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr2:172965613C>G	ENST00000234198.4	-	3	1006	c.645G>C	c.(643-645)gaG>gaC	p.E215D	DLX2_ENST00000466293.2_3'UTR	NM_004405.3	NP_004396.1	Q07687	DLX2_HUMAN	distal-less homeobox 2	215						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.216)			CCGAGGGGATCTCACCACTTT	0.577000													8	39					0	0	0.278610	0	0
PRC1	9055	broad.mit.edu	37	15	91512705	91512705	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr15:91512705G>T	ENST00000361188.5	-	13	2932	c.1721C>A	c.(1720-1722)tCt>tAt	p.S574Y	PRC1_ENST00000442656.2_Intron|PRC1_ENST00000394249.3_Missense_Mutation_p.S574Y|PRC1-AS1_ENST00000556200.1_RNA|PRC1-AS1_ENST00000554388.1_RNA|PRC1_ENST00000361919.3_Intron			O43663	PRC1_HUMAN	protein regulator of cytokinesis 1	574	Unstructured, Arg/Lys rich.				cytokinesis|mitotic spindle elongation	cytoplasm|nucleus|spindle microtubule|spindle pole	protein binding			endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25	Lung NSC(78;0.0987)|all_lung(78;0.175)					GCTGGCAACAGAATTAATGCT	0.542000													5	119					0.00116845	0.00123937	0.217242	1	0
PSD4	23550	broad.mit.edu	37	2	113955142	113955142	+	Splice_Site	SNP	G	G	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr2:113955142G>A	ENST00000245796.6	+	13	2583	c.2386_splice	c.e13-1	p.T796_splice	PSD4_ENST00000441564.2_Splice_Site_p.T768_splice	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	796	PH.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTGGAACAGCGCCATGGGGCA	0.547000													20	28					0	0	0.624587	0	0
ABCA13	154664	broad.mit.edu	37	7	48626780	48626780	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr7:48626780C>G	ENST00000435803.1	+	57	14560	c.14536C>G	c.(14536-14538)Ctc>Gtc	p.L4846V	ABCA13_ENST00000544596.1_Missense_Mutation_p.L576V	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4846	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			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						GCGCTTACACCTCGAAGCCCA	0.572000													12	11					0	0	0.387290	0	0
GADD45G	10912	broad.mit.edu	37	9	92220638	92220638	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr9:92220638A>G	ENST00000252506.6	+	3	321	c.212A>G	c.(211-213)gAc>gGc	p.D71G	GADD45G_ENST00000494726.1_Intron|GADD45G_ENST00000375769.1_Missense_Mutation_p.D53G	NM_006705.3	NP_006696.1	O95257	GA45G_HUMAN	growth arrest and DNA-damage-inducible, gamma	71					activation of MAPKKK activity|apoptosis|cell differentiation|DNA repair|multicellular organismal development		protein binding			lung(2)	2						GACGAGGGCGACATCGCGCTG	0.627000													18	21					0	0	0.575678	0	0
GABRA2	2555	broad.mit.edu	37	4	46252494	46252494	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr4:46252494G>A	ENST00000510861.1	-	10	1360	c.1187C>T	c.(1186-1188)cCc>cTc	p.P396L	GABRA2_ENST00000381620.4_Missense_Mutation_p.P396L|GABRA2_ENST00000356504.1_Missense_Mutation_p.P396L|GABRA2_ENST00000514090.1_Missense_Mutation_p.P396L|GABRA2_ENST00000507069.1_Missense_Mutation_p.P456L|GABRA2_ENST00000540012.1_Missense_Mutation_p.P401L			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	396					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CTTCTTGTTGGGTTCTGGCGT	0.428000													62	178					0	0	0.870114	0	0
NUF2	83540	broad.mit.edu	37	1	163315514	163315514	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr1:163315514G>T	ENST00000271452.3	+	11	1133	c.854G>T	c.(853-855)tGc>tTc	p.C285F	NUF2_ENST00000524800.1_Intron|NUF2_ENST00000367900.3_Missense_Mutation_p.C285F	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	285	Interaction with the N-terminus of NDC80.				cell division|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					TCAGTTGACTGCCTGCCTTCA	0.368000													33	77					1.22384e-17	1.7072e-17	0.769981	1	0
SYNE2	23224	broad.mit.edu	37	14	64634321	64634321	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr14:64634321C>A	ENST00000357395.3	+	93	17168	c.6024C>A	c.(6022-6024)agC>agA	p.S2008R	SYNE2_ENST00000555002.1_Missense_Mutation_p.S2257R|SYNE2_ENST00000554584.1_Missense_Mutation_p.S5498R|SYNE2_ENST00000358025.3_Missense_Mutation_p.S5623R|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.S2008R|SYNE2_ENST00000344113.4_Missense_Mutation_p.S5623R			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5623					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TGGCTAACAGCCTTCCTGAGC	0.458000													17	46					3.52763e-06	3.93011e-06	0.520397	1	0
CAMSAP1	157922	broad.mit.edu	37	9	138713787	138713787	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr9:138713787C>T	ENST00000389532.4	-	11	2784	c.2720G>A	c.(2719-2721)cGc>cAc	p.R907H	CAMSAP1_ENST00000312405.6_Missense_Mutation_p.R629H|CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000409386.3_Missense_Mutation_p.R918H	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	907						cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		GAGCTTCAGGCGCTGCCTTGC	0.617000													60	97					0	0	0.870114	0	0
FNIP1	96459	broad.mit.edu	37	5	131080266	131080266	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr5:131080266T>C	ENST00000514667.1	-	2	271	c.210A>G	c.(208-210)atA>atG	p.I70M	FNIP1_ENST00000307954.8_Missense_Mutation_p.I70M|FNIP1_ENST00000510461.1_Missense_Mutation_p.I70M|FNIP1_ENST00000511848.1_Missense_Mutation_p.I70M|FNIP1_ENST00000307968.7_Missense_Mutation_p.I70M					folliculin interacting protein 1											NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		CCGATACTGATATGTCCTCAT	0.368000													38	51					0	0	0.859065	0	0
CPED1	79974	broad.mit.edu	37	7	120780890	120780890	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr7:120780890C>A	ENST00000310396.5	+	15	2176	c.1709C>A	c.(1708-1710)aCa>aAa	p.T570K	CPED1_ENST00000423795.1_Missense_Mutation_p.T350K|CPED1_ENST00000450913.2_Missense_Mutation_p.T570K	NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1																		GATGAAAACACACCATGTCAT	0.303000													9	33					0.0477658	0.0489452	0.307466	1	0
IGLC2	3538	broad.mit.edu	37	22	23243367	23243367	+	RNA	SNP	T	T	C	rs8033	by1000genomes	TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr22:23243367T>C	ENST00000390323.2	+	0	212																											CCAGCAGCTATCTGAGCCTGA	0.587000													3	9					0	0	0.115264	0	0
STARD8	9754	broad.mit.edu	37	X	67937210	67937210	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chrX:67937210G>T	ENST00000252336.6	+	5	586	c.214G>T	c.(214-216)Gag>Tag	p.E72*	STARD8_ENST00000374597.3_Nonsense_Mutation_p.E72*|STARD8_ENST00000374599.3_Nonsense_Mutation_p.E152*	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	72					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						CGTCCTCACCGAGCTTAGTGC	0.642000													4	4					0.014758	0.0151692	0.184627	1	0
ING1	3621	broad.mit.edu	37	13	111372015	111372015	+	Silent	SNP	C	C	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr13:111372015C>T	ENST00000375774.3	+	2	1467	c.1005C>T	c.(1003-1005)gcC>gcT	p.A335A	ING1_ENST00000338450.7_Silent_p.A148A|ING1_ENST00000375775.3_Silent_p.A123A|ING1_ENST00000333219.7_Silent_p.A192A	NM_005537.4	NP_005528.3	Q9UK53	ING1_HUMAN	inhibitor of growth family, member 1	335			A -> D (in HNSCC).		cell cycle|negative regulation of cell growth|negative regulation of cell proliferation	nucleus	zinc ion binding			endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.188)			GCTCCAAGGCCAAGGCGGAGC	0.627000													21	34					0	0	0.592651	0	0
PLA2G4C	8605	broad.mit.edu	37	19	48602932	48602932	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr19:48602932C>A	ENST00000354276.3	-	5	770	c.443G>T	c.(442-444)aGa>aTa	p.R148I	PLA2G4C_ENST00000599921.1_Missense_Mutation_p.R148I|PLA2G4C_ENST00000599111.1_Missense_Mutation_p.R158I|PLA2G4C_ENST00000413144.2_Missense_Mutation_p.R148I	NM_001159323.1	NP_001152795.1	Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	148	PLA2c.		R -> G (in dbSNP:rs2307282).		arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		ACTTACTTCTCTGGTTTGCTT	0.522000													48	18					5.2432e-18	7.40742e-18	0.870114	1	0
NCKAP5	344148	broad.mit.edu	37	2	133636466	133636466	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr2:133636466C>G	ENST00000409261.1	-	9	976	c.603G>C	c.(601-603)ttG>ttC	p.L201F	NCKAP5_ENST00000409213.1_Missense_Mutation_p.L201F|NCKAP5_ENST00000405974.3_Missense_Mutation_p.L201F|NCKAP5_ENST00000317721.6_Missense_Mutation_p.L201F	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	201							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TTTCATTCTCCAAAGCCAACG	0.403000													18	51					0	0	0.539581	0	0
SNRPD3	6634	broad.mit.edu	37	22	24964112	24964112	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr22:24964112G>T	ENST00000215829.3	+	3	874	c.287G>T	c.(286-288)gGc>gTc	p.G96V	SNRPD3_ENST00000402849.1_Missense_Mutation_p.G96V	NM_001278656.1|NM_004175.3	NP_001265585.1|NP_004166.1	P62318	SMD3_HUMAN	small nuclear ribonucleoprotein D3 polypeptide 18kDa	96	Arg/Lys-rich (basic).				histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	enzyme binding|histone pre-mRNA DCP binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6						TCAGGGGCTGGCCGAGGAAAA	0.453000													26	40					1.77063e-15	2.38963e-15	0.693898	1	0
BMPER	168667	broad.mit.edu	37	7	34085917	34085917	+	Splice_Site	SNP	G	G	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr7:34085917G>T	ENST00000297161.2	+	8	950		c.e8-1		BMPER_ENST00000494786.1_Splice_Site|BMPER_ENST00000426693.1_Splice_Site	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator						blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						TCTTTTCTTAGGGAGGCAGGA	0.433000													28	112					2.12542e-12	2.66278e-12	0.706142	1	0
LDHAL6B	92483	broad.mit.edu	37	15	59499557	59499557	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr15:59499557C>A	ENST00000307144.4	+	1	516	c.418C>A	c.(418-420)Cta>Ata	p.L140I	MYO1E_ENST00000288235.4_Intron	NM_033195.2	NP_149972.1	Q9BYZ2	LDH6B_HUMAN	lactate dehydrogenase A-like 6B	140					glycolysis	cytoplasm	L-lactate dehydrogenase activity|protein binding			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)	10					NADH(DB00157)	AAACTCCAACCTAGTGATTAT	0.428000													75	78					3.41413e-29	5.16017e-29	0.870114	1	0
FAM86EP	348926	broad.mit.edu	37	4	3954855	3954855	+	RNA	SNP	G	G	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr4:3954855G>T	ENST00000281228.8	-	0	143				FAM86EP_ENST00000313946.8_RNA																							AAAATATCCCGCCGCAGCTCA	0.493000													4	87					0.184627	0.185187	0.184627	1	0
CHD7	55636	broad.mit.edu	37	8	61774827	61774827	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr8:61774827A>T	ENST00000423902.2	+	36	8382	c.7903A>T	c.(7903-7905)Aaa>Taa	p.K2635*	CHD7_ENST00000524602.1_Nonsense_Mutation_p.K586*	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2635					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			AAACCCTAATAAATTGGATAT	0.368000													11	14					0	0	0.387290	0	0
KCNU1	157855	broad.mit.edu	37	8	36698451	36698451	+	Splice_Site	SNP	C	C	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr8:36698451C>A	ENST00000399881.3	+	16	1670	c.1631_splice	c.e16-1	p.L545_splice		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	545	Segment S8.					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		CCTTCCCAGGCTCTGCTTTCT	0.463000													10	27					1.33987e-11	1.66104e-11	0.361761	1	0
FAM153A	285596	broad.mit.edu	37	5	177158588	177158588	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr5:177158588G>A	ENST00000440605.3	-	15	896	c.613C>T	c.(613-615)Cca>Tca	p.P205S	FAM153A_ENST00000510276.1_Missense_Mutation_p.P205S|FAM153A_ENST00000393518.3_Intron|FAM153A_ENST00000513554.1_Missense_Mutation_p.P73S	NM_173663.3	NP_775934.3	Q9UHL3	F153A_HUMAN	family with sequence similarity 153, member A	205										kidney(6)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|stomach(1)	11	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGCGTGGCTGGGTCCACCTGC	0.463000													31	17					0	0	0.796494	0	0
ZFHX4	79776	broad.mit.edu	37	8	77767876	77767876	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr8:77767876C>G	ENST00000521891.2	+	10	9167	c.8719C>G	c.(8719-8721)Ccg>Gcg	p.P2907A	ZFHX4_ENST00000518282.1_Missense_Mutation_p.P2881A|ZFHX4_ENST00000455469.2_Missense_Mutation_p.P2862A|ZFHX4_ENST00000050961.6_Missense_Mutation_p.P2862A	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2862						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CATAGCGGACCCGAGCTCCCC	0.502000										HNSCC(33;0.089)			21	28					0	0	0.608945	0	0
ARHGEF10	9639	broad.mit.edu	37	8	1844550	1844550	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr8:1844550A>G	ENST00000518288.1	+	15	1730	c.1567A>G	c.(1567-1569)Agc>Ggc	p.S523G	ARHGEF10_ENST00000520359.1_Missense_Mutation_p.S460G|ARHGEF10_ENST00000398564.1_Missense_Mutation_p.S523G|ARHGEF10_ENST00000349830.3_Missense_Mutation_p.S498G|ARHGEF10_ENST00000398560.1_Missense_Mutation_p.S484G|ARHGEF10_ENST00000262112.6_Missense_Mutation_p.S523G			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	523	DH.				centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		GAACAATTTCAGCACAGCCGT	0.403000													41	57					0	0	0.827153	0	0
UNC13C	440279	broad.mit.edu	37	15	54685309	54685309	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr15:54685309C>G	ENST00000545554.1	+	17	4777	c.4777C>G	c.(4777-4779)Ccc>Gcc	p.P1593A	UNC13C_ENST00000260323.11_Missense_Mutation_p.P1593A|UNC13C_ENST00000537900.1_Missense_Mutation_p.P1591A			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1593					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GGATTTTTGGCCCCAACTTAT	0.393000													29	35					0	0	0.740014	0	0
PCDHB3	56132	broad.mit.edu	37	5	140481614	140481614	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr5:140481614C>T	ENST00000231130.2	+	1	1381	c.1381C>T	c.(1381-1383)Cgc>Tgc	p.R461C	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		461	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTGTTCGTCCGCGAGAACAA	0.602000													113	111					0	0	0.870114	0	0
IQCB1	9657	broad.mit.edu	37	3	121547406	121547406	+	Silent	SNP	G	G	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr3:121547406G>A	ENST00000310864.6	-	4	388	c.174C>T	c.(172-174)ctC>ctT	p.L58L	IQCB1_ENST00000349820.6_Silent_p.L58L	NM_001023570.2	NP_001018864.2	Q15051	IQCB1_HUMAN	IQ motif containing B1	58					cilium assembly|maintenance of organ identity|photoreceptor cell maintenance	centrosome|photoreceptor connecting cilium	calmodulin binding			NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)	30				GBM - Glioblastoma multiforme(114;0.0983)		AATATTGAATGAGATCATAAC	0.328000													22	39					0	0	0.608945	0	0
GSTO2	119391	broad.mit.edu	37	10	106037800	106037800	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr10:106037800C>T	ENST00000450629.2	+	4	920	c.292C>T	c.(292-294)Cca>Tca	p.P98S	GSTO2_ENST00000338595.2_Missense_Mutation_p.P98S|GSTO2_ENST00000477078.2_3'UTR|GSTO2_ENST00000369707.1_Missense_Mutation_p.P70S|GSTO2_ENST00000401888.2_Missense_Mutation_p.P98S|GSTO2_ENST00000429569.2_Missense_Mutation_p.P70S	NM_001191013.1	NP_001177942.1	Q9H4Y5	GSTO2_HUMAN	glutathione S-transferase omega 2	98	GST N-terminal.				water-soluble vitamin metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11		Colorectal(252;0.178)		Epithelial(162;1.14e-09)|all cancers(201;3.89e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0155)	Glutathione(DB00143)	TGATGCTTATCCAGGAAGGAA	0.408000													26	42					0	0	0.667858	0	0
IGHV1OR16-3	28313	broad.mit.edu	37	16	32070612	32070612	+	RNA	SNP	A	A	C			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr16:32070612A>C	ENST00000566806.1	-	0	499																											GGTCTCCTGCAAGGCTTCTGG	0.552000													5	71					0	0	0.217242	0	0
MET	4233	broad.mit.edu	37	7	116397705	116397705	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr7:116397705C>G	ENST00000397752.3	+	8	2179	c.1979C>G	c.(1978-1980)aCa>aGa	p.T660R	MET_ENST00000318493.6_Missense_Mutation_p.T660R|MET_ENST00000436117.2_Missense_Mutation_p.T660R	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	660	IPT/TIG 2.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			CCTGTAATAACAAGTATTTCG	0.333000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				25	42					0	0	0.667858	0	0
RGS10	6001	broad.mit.edu	37	10	121275037	121275037	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr10:121275037T>C	ENST00000392865.1	-	4	403	c.341A>G	c.(340-342)cAg>cGg	p.Q114R	RGS10_ENST00000369103.2_Missense_Mutation_p.Q128R|RGS10_ENST00000469575.1_Intron|RGS10_ENST00000369101.3_Missense_Mutation_p.Q120R	NM_002925.3	NP_002916.1	O43665	RGS10_HUMAN	regulator of G-protein signaling 10	120	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|protein binding|signal transducer activity			breast(2)|large_intestine(1)|lung(3)	6		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.00105)|GBM - Glioblastoma multiforme(135;0.195)		CTGGAGTTTCTGGAACATCAG	0.512000													15	33					0	0	0.479597	0	0
LOC440040	440040	broad.mit.edu	37	11	49597924	49597924	+	RNA	SNP	G	G	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr11:49597924G>T	ENST00000527477.1	+	0	528																											TCTCTTTTCTGTTCATCACCA	0.512000													8	32					0.000157383	0.000170241	0.278610	1	0
PANK1	53354	broad.mit.edu	37	10	91404709	91404709	+	Silent	SNP	C	C	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr10:91404709C>T	ENST00000307534.4	-	1	506	c.351G>A	c.(349-351)gaG>gaA	p.E117E		NM_148977.2	NP_683878.1	Q8TE04	PANK1_HUMAN	pantothenate kinase 1	117					coenzyme A biosynthetic process|pantothenate metabolic process	cytosol|nucleus	ATP binding|pantothenate kinase activity			cervix(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	11					Bezafibrate(DB01393)	GGAGGTCATTCTCCGGCGTCT	0.741000													8	18					0	0	0.278610	0	0
SLC34A1	6569	broad.mit.edu	37	5	176824901	176824901	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr5:176824901C>T	ENST00000324417.5	+	13	1625	c.1534C>T	c.(1534-1536)Cgc>Tgc	p.R512C	SLC34A1_ENST00000513614.1_3'UTR	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1	512					phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGCCAAGTACCGCTGGTTTGC	0.607000													62	62					0	0	0.870114	0	0
PCDHB3	56132	broad.mit.edu	37	5	140480970	140480970	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr5:140480970T>A	ENST00000231130.2	+	1	737	c.737T>A	c.(736-738)cTc>cAc	p.L246H	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		246					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCACAGCCGCTCTATGAGGTT	0.493000													53	65					0	0	0.870114	0	0
GOLIM4	27333	broad.mit.edu	37	3	167813020	167813020	+	Silent	SNP	C	C	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr3:167813020C>A	ENST00000470487.1	-	1	743	c.54G>T	c.(52-54)ctG>ctT	p.L18L	GOLIM4_ENST00000309027.4_Silent_p.L18L	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	18					transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CGGTCAGCAGCAGCAGCGTCT	0.647000													11	19					2.27111e-07	2.5922e-07	0.411799	1	0
OR5F1	338674	broad.mit.edu	37	11	55762023	55762023	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr11:55762023G>C	ENST00000278409.1	-	1	78	c.79C>G	c.(79-81)Ctc>Gtc	p.L27V		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	27					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					AACAAAAAGAGGATAATCTGT	0.383000													34	45					0	0	0.760397	0	0
MYO7A	4647	broad.mit.edu	37	11	76853808	76853808	+	Silent	SNP	C	C	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr11:76853808C>A	ENST00000409709.3	+	3	344	c.72C>A	c.(70-72)atC>atA	p.I24I	MYO7A_ENST00000409893.1_Silent_p.I24I|MYO7A_ENST00000409619.2_Silent_p.I13I|MYO7A_ENST00000458637.2_Silent_p.I24I	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	24	Myosin head-like.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						ACGTGCCCATCGGGGCGGTGG	0.622000													3	11					0.00909568	0.00937903	0.150653	1	0
NDUFA13	51079	broad.mit.edu	37	19	19626988	19626988	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr19:19626988A>G	ENST00000252576.5	+	1	190	c.190A>G	c.(190-192)Atc>Gtc	p.I64V	NDUFA13_ENST00000507754.3_5'UTR	NM_015965.6	NP_057049.5			NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	12						CGCCACACTCATCATGGCGGT	0.632000													4	43					0	0	0.150653	0	0
PIK3R1	5295	broad.mit.edu	37	5	67575530	67575530	+	Silent	SNP	C	C	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr5:67575530C>T	ENST00000521381.1	+	5	1219	c.603C>T	c.(601-603)gcC>gcT	p.A201A	PIK3R1_ENST00000396611.1_Silent_p.A201A|PIK3R1_ENST00000521657.1_Silent_p.A201A|PIK3R1_ENST00000274335.5_Silent_p.A201A	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	201	Rho-GAP.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	TTCCAGCAGCCGTTTACAGTG	0.433000			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)			43	58					0	0	0.870114	0	0
SLC39A12	221074	broad.mit.edu	37	10	18270306	18270306	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr10:18270306G>C	ENST00000377369.2	+	6	1263	c.990G>C	c.(988-990)aaG>aaC	p.K330N	SLC39A12_ENST00000377374.4_Missense_Mutation_p.K330N|SLC39A12_ENST00000377371.3_Missense_Mutation_p.K330N|SLC39A12_ENST00000539911.1_Missense_Mutation_p.K196N	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	330					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						TCATTTCTAAGGAGGACTTTA	0.488000													26	60					0	0	0.681144	0	0
FLRT2	23768	broad.mit.edu	37	14	86088015	86088015	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr14:86088015A>T	ENST00000330753.4	+	2	924	c.157A>T	c.(157-159)Agc>Tgc	p.S53C	FLRT2_ENST00000554746.1_Missense_Mutation_p.S53C	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	53	LRRNT.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		TAATGAGCGAAGCTTGACCTC	0.512000													41	73					0	0	0.859065	0	0
NRXN3	9369	broad.mit.edu	37	14	79175866	79175866	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr14:79175866G>C	ENST00000554719.1	+	4	900	c.409G>C	c.(409-411)Gtg>Ctg	p.V137L	RP11-232C2.2_ENST00000555680.1_RNA|NRXN3_ENST00000335750.5_Missense_Mutation_p.V137L	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	141	Laminin G-like.				angiogenesis|cell adhesion	integral to membrane		p.V137M(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CTTCTTTGCCGTGGAACTCCT	0.507000													27	73					0	0	0.681144	0	0
GTF3C1	2975	broad.mit.edu	37	16	27518169	27518169	+	Splice_Site	SNP	C	C	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr16:27518169C>A	ENST00000356183.4	-	9	1566	c.1552_splice	c.e9+1	p.K517_splice	GTF3C1_ENST00000561623.1_Splice_Site_p.K517_splice	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	517						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GCTCCCTACCCTTGGTTGGGG	0.622000													4	3					8.12818e-05	8.82108e-05	0.248553	1	0
KRTAP6-1	337966	broad.mit.edu	37	21	31986046	31986046	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr21:31986046C>T	ENST00000329122.2	-	1	203	c.178G>A	c.(178-180)Ggc>Agc	p.G60S		NM_181602.1	NP_853633.1	Q3LI64	KRA61_HUMAN	keratin associated protein 6-1	60						cytosol|intermediate filament				breast(2)|endometrium(1)|lung(7)	10						CATCCATAGCCATAGCCACAG	0.562000													36	128					0	0	0.788014	0	0
APOBEC3G	60489	broad.mit.edu	37	22	39479766	39479766	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr22:39479766C>A	ENST00000407997.3	+	5	969	c.612C>A	c.(610-612)ttC>ttA	p.F204L	APOBEC3G_ENST00000461827.1_3'UTR|APOBEC3G_ENST00000452957.2_Missense_Mutation_p.F204L	NM_021822.3	NP_068594.1			apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G											central_nervous_system(1)|large_intestine(4)|lung(5)|skin(1)|stomach(1)	12	Melanoma(58;0.04)					CATTCACTTTCAACTTTAACA	0.547000													31	41					4.31634e-10	5.21426e-10	0.760397	1	0
PTPN14	5784	broad.mit.edu	37	1	214557195	214557195	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr1:214557195C>G	ENST00000366956.5	-	13	2197	c.2003G>C	c.(2002-2004)cGc>cCc	p.R668P	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	668					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		GAGCGTGTTGCGGCGAGCCAT	0.647000													14	29					0	0	0.500413	0	0
OR4F15	390649	broad.mit.edu	37	15	102358657	102358657	+	Missense_Mutation	SNP	A	A	C			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr15:102358657A>C	ENST00000332238.4	+	1	292	c.268A>C	c.(268-270)Aag>Cag	p.K90Q		NM_001001674.1	NP_001001674.1	Q8NGB8	O4F15_HUMAN	olfactory receptor, family 4, subfamily F, member 15	90					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(10)	19	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			CAAGAAGCACAAGGCCATCTC	0.453000													75	89					0	0	0.870114	0	0
C6orf222	389384	broad.mit.edu	37	6	36298043	36298043	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr6:36298043G>C	ENST00000437635.2	-	2	602	c.425C>G	c.(424-426)cCa>cGa	p.P142R		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	142										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						CCTGAGGGCTGGCTCCCCTGC	0.627000													40	62					0	0	0.827153	0	0
SPTBN5	51332	broad.mit.edu	37	15	42172497	42172497	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr15:42172497C>A	ENST00000320955.6	-	14	2899	c.2672G>T	c.(2671-2673)cGg>cTg	p.R891L		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	891					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CTCCTCCAACCGGGCCCTGCG	0.667000													8	11					0.000673444	0.000719064	0.361761	1	0
GTSE1	51512	broad.mit.edu	37	22	46712020	46712020	+	Silent	SNP	G	G	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr22:46712020G>T	ENST00000454366.1	+	7	1355	c.1143G>T	c.(1141-1143)ctG>ctT	p.L381L		NM_016426.6	NP_057510.4	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	362					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		CCGCCATGCTGCGGCCAGCTC	0.592000													26	37					5.71845e-15	7.60164e-15	0.812448	1	0
DPP3	10072	broad.mit.edu	37	11	66264796	66264796	+	Silent	SNP	C	C	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr11:66264796C>T	ENST00000532677.1	+	16	2184	c.1783C>T	c.(1783-1785)Ctg>Ttg	p.L595L	DPP3_ENST00000453114.1_Silent_p.L576L|DPP3_ENST00000530165.1_Silent_p.L546L|DPP3_ENST00000541961.1_Silent_p.L576L|DPP3_ENST00000360510.2_Silent_p.L576L|DPP3_ENST00000531863.1_Silent_p.L596L	NM_001256670.1|NM_005700.4|NM_130443.3	NP_001243599.1|NP_005691.2|NP_569710.2	Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	576					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						GTTTGTGATCCTGAGAGTCTT	0.617000													18	40					0	0	0.539581	0	0
TSC22D1	8848	broad.mit.edu	37	13	45149475	45149475	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr13:45149475T>A	ENST00000458659.2	-	1	1226	c.736A>T	c.(736-738)Agt>Tgt	p.S246C	TSC22D1_ENST00000501704.2_Missense_Mutation_p.S246C	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	246					transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		ATGGATGCACTGGCCACAGCA	0.517000													26	23					0	0	0.667858	0	0
LRP1B	53353	broad.mit.edu	37	2	141294160	141294160	+	Silent	SNP	C	C	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr2:141294160C>A	ENST00000389484.3	-	46	8603	c.7632G>T	c.(7630-7632)ctG>ctT	p.L2544L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2544	LDL-receptor class A 11.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CACAGTAGAGCAGTTTTTCAT	0.408000										TSP Lung(27;0.18)			51	65					4.86159e-25	7.15194e-25	0.870114	1	0
PCDHA7	56141	broad.mit.edu	37	5	140215502	140215502	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr5:140215502G>T	ENST00000525929.1	+	1	1534	c.1534G>T	c.(1534-1536)Gcg>Tcg	p.A512S	PCDHA7_ENST00000378125.3_Missense_Mutation_p.A512S|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCAGTGCACGCGGAGAGCGG	0.701000													76	96					3.83088e-25	5.6608e-25	0.870114	1	0
ZIC4	84107	broad.mit.edu	37	3	147108741	147108741	+	Silent	SNP	C	C	G			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr3:147108741C>G	ENST00000383075.3	-	4	1493	c.981G>C	c.(979-981)gcG>gcC	p.A327A	ZIC4_ENST00000484399.1_Silent_p.A327A|ZIC4_ENST00000525172.2_Silent_p.A377A|ZIC4_ENST00000472749.2_5'UTR|ZIC4_ENST00000473123.1_Silent_p.A327A|ZIC4_ENST00000491672.1_Silent_p.A121A|ZIC4_ENST00000425731.3_Silent_p.A365A	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	327						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						CGGCGGTACGCGCCGCCACCG	0.701000													10	14					0	0	0.387290	0	0
PPIP5K1	9677	broad.mit.edu	37	15	43827131	43827131	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr15:43827131T>A	ENST00000420765.1	-	31	4225	c.4043A>T	c.(4042-4044)aAg>aTg	p.K1348M	PPIP5K1_ENST00000360301.4_Missense_Mutation_p.K1323M|PPIP5K1_ENST00000360135.4_Missense_Mutation_p.K1321M|PPIP5K1_ENST00000348806.6_Missense_Mutation_p.K1321M|PPIP5K1_ENST00000396923.3_Missense_Mutation_p.K1348M|PPIP5K1_ENST00000381885.1_Missense_Mutation_p.K1344M|PPIP5K1_ENST00000381879.4_Missense_Mutation_p.K1324M|PPIP5K1_ENST00000334933.4_Missense_Mutation_p.K1323M	NM_001130858.2	NP_001124330.1	Q6PFW1	VIP1_HUMAN	diphosphoinositol pentakisphosphate kinase 1	1348					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			large_intestine(1)	1						ATGGACCAGCTTGCCAACCTC	0.552000													66	50					0	0	0.870114	0	0
GAL3ST3	89792	broad.mit.edu	37	11	65811010	65811010	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr11:65811010C>A	ENST00000312006.4	-	3	545	c.264G>T	c.(262-264)gaG>gaT	p.E88D	GAL3ST3_ENST00000527878.1_Missense_Mutation_p.E88D	NM_033036.2	NP_149025.1	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3	88					monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			kidney(1)|lung(9)|ovary(2)|skin(2)	14						GGTTGTGGCGCTCGGCAAAGC	0.662000													4	20					0.150653	0.152031	0.150653	1	0
FURIN	5045	broad.mit.edu	37	15	91421523	91421523	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr15:91421523G>T	ENST00000268171.3	+	8	1108	c.829G>T	c.(829-831)Ggg>Tgg	p.G277W		NM_002569.2	NP_002560.1	P09958	FURIN_HUMAN	furin (paired basic amino acid cleaving enzyme)	277					cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|Notch signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release	cell surface|Golgi lumen|Golgi membrane|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle	metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	36	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			CTTCTTCCGTGGGGTTAGCCA	0.587000													17	14					5.26018e-13	6.69661e-13	0.608945	1	0
ATP11A	23250	broad.mit.edu	37	13	113536255	113536255	+	Silent	SNP	A	A	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr13:113536255A>T	ENST00000375630.2	+	29	3541	c.3453A>T	c.(3451-3453)acA>acT	p.T1151T	ATP11A_ENST00000487903.1_3'UTR|ATP11A_ENST00000375645.3_3'UTR	NM_032189.3	NP_115565.3	P98196	AT11A_HUMAN	ATPase, class VI, type 11A	0					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				AGCAGGTGACACTCGCGGCCT	0.632000													27	46					0	0	0.693898	0	0
ZEB1	6935	broad.mit.edu	37	10	31810827	31810827	+	Missense_Mutation	SNP	A	A	C			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr10:31810827A>C	ENST00000446923.2	+	7	2907	c.2516A>C	c.(2515-2517)gAa>gCa	p.E839A	ZEB1_ENST00000560721.2_Missense_Mutation_p.E835A|ZEB1_ENST00000320985.10_Missense_Mutation_p.E855A|ZEB1_ENST00000361642.5_Missense_Mutation_p.E856A|ZEB1_ENST00000542815.3_Missense_Mutation_p.E788A|ZEB1_ENST00000559858.1_3'UTR	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	855					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				GCAGTCCAAGAACCACCCTTG	0.438000													26	52					0	0	0.706142	0	0
ITLN1	55600	broad.mit.edu	37	1	160849122	160849122	+	Silent	SNP	G	G	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr1:160849122G>T	ENST00000326245.3	-	7	883	c.768C>A	c.(766-768)gtC>gtA	p.V256V	ITLN1_ENST00000487531.1_5'UTR	NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	intelectin 1 (galactofuranose binding)	256					positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TACATCCGGTGACCCTCATTC	0.507000													46	88					8.72198e-27	1.30044e-26	0.870114	1	0
TTN	7273	broad.mit.edu	37	2	179584097	179584097	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr2:179584097C>A	ENST00000589042.1	-	83	24244	c.24020G>T	c.(24019-24021)cGa>cTa	p.R8007L	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.R7690L|TTN_ENST00000342992.6_Missense_Mutation_p.R6763L|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7690	Ig-like 62.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCCAGAGACTCGGCACTCCAA	0.517000													31	95					1.08312e-15	1.47536e-15	0.740014	1	0
OR51D1	390038	broad.mit.edu	37	11	4661103	4661103	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr11:4661103G>A	ENST00000357605.2	+	1	159	c.83G>A	c.(82-84)gGt>gAt	p.G28D		NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, member 1	28					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTTTTGGTGGGTATCCCTGGC	0.512000													63	68					0	0	0.870114	0	0
DCLK3	85443	broad.mit.edu	37	3	36779060	36779060	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr3:36779060T>C	ENST00000416516.2	-	2	1581	c.1091A>G	c.(1090-1092)gAt>gGt	p.D364G		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	364	Protein kinase.					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						AAAGTTCCCATCCCCAATGAC	0.577000													19	56					0	0	0.592651	0	0
ZNF536	9745	broad.mit.edu	37	19	31040381	31040381	+	Silent	SNP	C	C	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr19:31040381C>T	ENST00000355537.3	+	4	4002	c.3855C>T	c.(3853-3855)agC>agT	p.S1285S		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1285					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TTGCAAGTAGCACAGCAAATT	0.493000													41	59					0	0	0.840704	0	0
RYR2	6262	broad.mit.edu	37	1	237947838	237947838	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr1:237947838G>T	ENST00000366574.2	+	90	13143	c.12826G>T	c.(12826-12828)Gtg>Ttg	p.V4276L	RYR2_ENST00000542537.1_Missense_Mutation_p.V4260L|RYR2_ENST00000360064.6_Missense_Mutation_p.V4282L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4276					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.V4274L(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AAAGATGACCGTGAAGGACAT	0.468000													23	26					1.96895e-08	2.27875e-08	0.639603	1	0
CPXM1	56265	broad.mit.edu	37	20	2774857	2774857	+	Silent	SNP	C	C	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr20:2774857C>A	ENST00000380605.2	-	14	2248	c.2184G>T	c.(2182-2184)cgG>cgT	p.R728R		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	728					cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						GTCCCCTTAGCCGCTCCAGGC	0.612000													29	69					2.08457e-15	2.79349e-15	0.750413	1	0
PAIP1	10605	broad.mit.edu	37	5	43537010	43537010	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr5:43537010T>A	ENST00000306846.3	-	6	1115	c.883A>T	c.(883-885)Att>Ttt	p.I295F	PAIP1_ENST00000436644.2_Missense_Mutation_p.I216F|PAIP1_ENST00000514514.1_Missense_Mutation_p.I216F|PAIP1_ENST00000338972.4_Missense_Mutation_p.I183F	NM_006451.4|NM_182789.3	NP_006442.2|NP_877590.1	Q9H074	PAIP1_HUMAN	poly(A) binding protein interacting protein 1	295	MIF4G.				mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation	cytosol	protein binding|RNA binding|translation activator activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Lung NSC(6;2.07e-05)					ACCTGAAGAATATCTGCTCTT	0.338000													6	65					0	0	0.248553	0	0
PMF1	11243	broad.mit.edu	37	1	156203520	156203520	+	Splice_Site	SNP	G	G	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr1:156203520G>T	ENST00000368277.3	+	3	377		c.e3+1		PMF1_ENST00000368279.3_Splice_Site|PMF1_ENST00000368273.4_Splice_Site|PMF1-BGLAP_ENST00000368276.4_Splice_Site|PMF1-BGLAP_ENST00000490491.1_Splice_Site|PMF1-BGLAP_ENST00000320139.5_Splice_Site|PMF1_ENST00000567140.1_Splice_Site|PMF1_ENST00000565805.1_Splice_Site	NM_007221.3	NP_009152.2			polyamine-modulated factor 1											kidney(1)|large_intestine(2)|lung(3)	6	Hepatocellular(266;0.158)					AGCCAGCCTGGTGAGAGTGGG	0.468000													52	87					1.30916e-28	1.96078e-28	0.870114	1	0
IL2	3558	broad.mit.edu	37	4	123377319	123377319	+	Nonsense_Mutation	SNP	T	T	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr4:123377319T>A	ENST00000226730.4	-	2	471	c.187A>T	c.(187-189)Aag>Tag	p.K63*		NM_000586.3	NP_000577.2	P60568	IL2_HUMAN	interleukin 2	63					anti-apoptosis|cell adhesion|cell-cell signaling|immune response|natural killer cell activation|negative regulation of B cell apoptosis|positive regulation of activated T cell proliferation|positive regulation of B cell proliferation|positive regulation of cell growth|positive regulation of interleukin-17 production|positive regulation of tyrosine phosphorylation of Stat5 protein|T cell differentiation	extracellular space	cytokine activity|growth factor activity|interleukin-2 receptor binding|kinase activator activity			endometrium(2)|large_intestine(4)|lung(6)|skin(1)	13				LUSC - Lung squamous cell carcinoma(721;0.185)		ATGTAAAACTTAAATGTGAGC	0.284000			T	TNFRSF17	intestinal T-cell lymphoma								15	41					0	0	0.479597	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													4	76					0	0	0.150653	0	0
SNX7	51375	broad.mit.edu	37	1	99203889	99203889	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr1:99203889G>T	ENST00000306121.3	+	8	1231	c.1222G>T	c.(1222-1224)Gat>Tat	p.D408Y	SNX7_ENST00000370189.5_Intron|SNX7_ENST00000529992.1_Missense_Mutation_p.D353Y	NM_015976.4	NP_057060.2	Q9UNH6	SNX7_HUMAN	sorting nexin 7	344					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	13		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)		Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234)		TATGCAAAATGATATCAAGTT	0.338000													25	79					4.87955e-14	6.35879e-14	0.693898	1	0
TRIM51HP	440041	broad.mit.edu	37	11	55065640	55065640	+	RNA	SNP	G	G	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr11:55065640G>T	ENST00000526016.1	-	0	68					NR_038174.2																						AAACAGGGCCGGCAAAAGCTG	0.493000													25	51					3.08376e-08	3.55653e-08	0.654019	1	0
SLC12A7	10723	broad.mit.edu	37	5	1064054	1064054	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr5:1064054C>A	ENST00000264930.5	-	20	2687	c.2644G>T	c.(2644-2646)Gcc>Tcc	p.A882S		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	882					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	TCCACCTGGGCCACGGTGAAG	0.627000													23	40					4.16121e-05	4.5608e-05	0.639603	1	0
NUP98	4928	broad.mit.edu	37	11	3714511	3714511	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr11:3714511G>T	ENST00000324932.7	-	27	4682	c.4262C>A	c.(4261-4263)cCa>cAa	p.P1421Q	NUP98_ENST00000359171.4_Missense_Mutation_p.P1421Q|NUP98_ENST00000355260.3_Missense_Mutation_p.P1421Q	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	1438					carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		GGAGGCTGTTGGTGGAAGCAA	0.463000			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML								50	115					7.77372e-23	1.13854e-22	0.870114	1	0
PTPRD	5789	broad.mit.edu	37	9	8340442	8340442	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr9:8340442C>A	ENST00000381196.4	-	39	5697	c.5154G>T	c.(5152-5154)caG>caT	p.Q1718H	PTPRD_ENST00000397606.3_Missense_Mutation_p.Q1311H|PTPRD_ENST00000397611.3_Missense_Mutation_p.Q1308H|PTPRD_ENST00000360074.4_Missense_Mutation_p.Q1705H|PTPRD_ENST00000355233.5_Missense_Mutation_p.Q1312H|PTPRD_ENST00000486161.1_Missense_Mutation_p.Q1311H|PTPRD_ENST00000358503.5_Missense_Mutation_p.Q1696H|PTPRD_ENST00000356435.5_Missense_Mutation_p.Q1718H|PTPRD_ENST00000540109.1_Missense_Mutation_p.Q1718H|PTPRD_ENST00000397617.3_Missense_Mutation_p.Q1311H|PTPRD_ENST00000537002.1_Missense_Mutation_p.Q1308H	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1718	Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CCAAGGGCCCCTGGGTAGCGA	0.458000										TSP Lung(15;0.13)			25	22					0.00047179	0.000508672	0.654019	1	0
KIF21A	55605	broad.mit.edu	37	12	39734815	39734815	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr12:39734815T>A	ENST00000395670.3	-	15	2422	c.2003A>T	c.(2002-2004)cAg>cTg	p.Q668L	KIF21A_ENST00000544797.2_Missense_Mutation_p.Q655L|KIF21A_ENST00000361961.3_Missense_Mutation_p.Q655L|KIF21A_ENST00000361418.5_Missense_Mutation_p.Q668L|KIF21A_ENST00000541463.2_Missense_Mutation_p.Q655L			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	668					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				CAGTCTTTTCTGGCTGTTTTC	0.363000													14	12					0	0	0.457914	0	0
ANKRD55	79722	broad.mit.edu	37	5	55472081	55472081	+	Silent	SNP	A	A	G			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr5:55472081A>G	ENST00000341048.4	-	4	361	c.210T>C	c.(208-210)tcT>tcC	p.S70S	ANKRD55_ENST00000504958.2_Silent_p.S70S|ANKRD55_ENST00000513241.2_Silent_p.S41S	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55	69										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				CTTGACGTCCAGAAACCGCAT	0.493000													42	108					0	0	0.853193	0	0
SULT1C3	442038	broad.mit.edu	37	2	108881780	108881780	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr2:108881780C>A	ENST00000329106.2	+	7	888	c.888C>A	c.(886-888)agC>agA	p.S296R		NM_001008743.1	NP_001008743.1	Q6IMI6	ST1C3_HUMAN	sulfotransferase family, cytosolic, 1C, member 3	296						cytoplasm	alcohol sulfotransferase activity			breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						TGGCAGGAAGCACCCTAACCT	0.463000													18	43					9.16793e-09	1.07229e-08	0.520397	1	0
SLC18A2	6571	broad.mit.edu	37	10	119013583	119013583	+	Missense_Mutation	SNP	C	C	A	rs11568719		TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr10:119013583C>A	ENST00000298472.5	+	5	691	c.548C>A	c.(547-549)gCc>gAc	p.A183D	SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	183					neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)	AGCAGCTATGCCTTCCTGCTG	0.592000													66	103					2.02627e-32	3.17865e-32	0.870114	1	0
PRDM9	56979	broad.mit.edu	37	5	23527869	23527869	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr5:23527869G>T	ENST00000296682.3	+	11	2854	c.2672G>T	c.(2671-2673)aGg>aTg	p.R891M		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	891					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TACGTCTGCAGGGAGGATGAG	0.522000										HNSCC(3;0.000094)			17	47					7.05477e-17	9.64929e-17	0.520397	1	0
ZNF607	84775	broad.mit.edu	37	19	38189117	38189117	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr19:38189117G>T	ENST00000355202.4	-	5	2510	c.1915C>A	c.(1915-1917)Cat>Aat	p.H639N	ZNF607_ENST00000395835.3_Missense_Mutation_p.H638N|CTD-2528L19.4_ENST00000586606.2_Intron	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	639					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			CCATCAGCATGAACGCTTTCA	0.378000													61	67					1.45723e-30	2.23307e-30	0.870114	1	0
RYR2	6262	broad.mit.edu	37	1	237880547	237880547	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr1:237880547G>C	ENST00000366574.2	+	72	10690	c.10373G>C	c.(10372-10374)cGg>cCg	p.R3458P	RYR2_ENST00000542537.1_Missense_Mutation_p.R3442P|RYR2_ENST00000360064.6_Missense_Mutation_p.R3456P	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3458					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.R3456L(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AAAGGAGATCGGTATTCCATG	0.493000													19	12					0	0	0.608945	0	0
FHOD3	80206	broad.mit.edu	37	18	34320650	34320650	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr18:34320650A>T	ENST00000257209.4	+	18	3205	c.3083A>T	c.(3082-3084)gAg>gTg	p.E1028V	FHOD3_ENST00000445677.1_Missense_Mutation_p.E990V|FHOD3_ENST00000592128.1_Missense_Mutation_p.E7V|FHOD3_ENST00000591635.1_Missense_Mutation_p.E224V|FHOD3_ENST00000590592.1_Missense_Mutation_p.E1203V|FHOD3_ENST00000359247.4_Missense_Mutation_p.E1011V	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	1011	FH2.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				ACCGATGAGGAGAAGCAGAAA	0.488000													17	27					0	0	0.500413	0	0
ATP11A	23250	broad.mit.edu	37	13	113439475	113439475	+	Silent	SNP	C	C	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr13:113439475C>T	ENST00000487903.1	+	2	154	c.66C>T	c.(64-66)gaC>gaT	p.D22D	ATP11A_ENST00000375630.2_Silent_p.D22D|ATP11A_ENST00000375645.3_Silent_p.D22D|ATP11A_ENST00000283558.8_Silent_p.D22D			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	22					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				ATTGGGTGGACAGCAGGACCA	0.567000											OREG0003855	type=REGULATORY REGION|Gene=ATP11A|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	42	73					0	0	0.827153	0	0
STAT3	6774	broad.mit.edu	37	17	40475303	40475303	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr17:40475303A>G	ENST00000264657.5	-	19	2035	c.1723T>C	c.(1723-1725)Tac>Cac	p.Y575H	STAT3_ENST00000389272.3_Missense_Mutation_p.Y477H|STAT3_ENST00000404395.3_Missense_Mutation_p.Y575H|STAT3_ENST00000585517.1_Missense_Mutation_p.Y575H|STAT3_ENST00000588969.1_Missense_Mutation_p.Y575H	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	575					cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		GCCAGGATGTACTTTTTCACA	0.517000									Hyperimmunoglobulin E Recurrent Infection Syndrome		OREG0024421	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	112					0	0	0.150653	0	0
AKAP8	10270	broad.mit.edu	37	19	15484083	15484083	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr19:15484083C>A	ENST00000269701.2	-	5	500	c.440G>T	c.(439-441)cGc>cTc	p.R147L		NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN	A kinase (PRKA) anchor protein 8	147					signal transduction	nuclear matrix		p.R147H(1)		breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						GTAGCTGGGGCGGTAGGGGTT	0.642000													29	20					1.88708e-17	2.62447e-17	0.729181	1	0
PCDHGC5	56097	broad.mit.edu	37	5	140870351	140870351	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr5:140870351G>T	ENST00000252087.1	+	1	1544	c.1544G>T	c.(1543-1545)cGg>cTg	p.R515L	PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN		515	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGGATGGACGGATCTTTGCC	0.547000													36	99					5.71845e-15	7.60164e-15	0.812448	1	0
AKAP1	8165	broad.mit.edu	37	17	55195744	55195744	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr17:55195744G>A	ENST00000337714.3	+	9	2736	c.2503G>A	c.(2503-2505)Gat>Aat	p.D835N	AKAP1_ENST00000571629.1_Missense_Mutation_p.D835N|AKAP1_ENST00000539273.1_Missense_Mutation_p.D835N|AKAP1_ENST00000572557.1_Missense_Mutation_p.D835N	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	835					blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					TCCTGAAGACGATGACCAGTT	0.532000													37	39					0	0	0.840704	0	0
SLCO3A1	28232	broad.mit.edu	37	15	92647611	92647611	+	Missense_Mutation	SNP	T	T	G			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr15:92647611T>G	ENST00000318445.6	+	4	1062	c.848T>G	c.(847-849)tTt>tGt	p.F283C	SLCO3A1_ENST00000555549.1_3'UTR|SLCO3A1_ENST00000424469.2_Missense_Mutation_p.F283C	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	283					sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			CTCTTGATGTTTGGGTTTCCA	0.597000													36	102					0	0	0.779181	0	0
OR51A7	119687	broad.mit.edu	37	11	4929367	4929367	+	Silent	SNP	C	C	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr11:4929367C>A	ENST00000359350.4	+	1	768	c.768C>A	c.(766-768)acC>acA	p.T256T	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004749.1	NP_001004749.1	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A, member 7	256					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCATCATCACCCTGGCTGCCA	0.493000													90	113					1.13762e-57	1.84585e-57	0.870114	1	0
ADAM2	2515	broad.mit.edu	37	8	39624758	39624758	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr8:39624758T>A	ENST00000265708.4	-	13	1328	c.1225A>T	c.(1225-1227)Att>Ttt	p.I409F	ADAM2_ENST00000379853.2_Missense_Mutation_p.I283F|ADAM2_ENST00000347580.4_Missense_Mutation_p.I390F|ADAM2_ENST00000521880.1_Missense_Mutation_p.I409F	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	409	Disintegrin.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		GTTTCTCCAATAAGGGCACAA	0.378000													65	100					0	0	0.870114	0	0
IRF9	10379	broad.mit.edu	37	14	24624848	24624848	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr14:24624848G>C	ENST00000558468.1	+	6	865	c.865G>C	c.(865-867)Gag>Cag	p.E289Q	RNF31_ENST00000559275.1_Missense_Mutation_p.E663Q|RNF31_ENST00000382687.3_Missense_Mutation_p.E663Q|RNF31_ENST00000324103.6_Missense_Mutation_p.E814Q																							TGAGCAGCTGGAGGCAACTTG	0.532000													33	78					0	0	0.760397	0	0
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	A	rs121913530		TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr12:25398285C>A	ENST00000311936.3	-	2	225	c.34G>T	c.(34-36)Ggt>Tgt	p.G12C	KRAS_ENST00000256078.4_Missense_Mutation_p.G12C|KRAS_ENST00000556131.1_Missense_Mutation_p.G12C|KRAS_ENST00000557334.1_Missense_Mutation_p.G12C	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348000	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			10	5					0.00621372	0.00644746	0.335167	1	0
INSL5	10022	broad.mit.edu	37	1	67263744	67263744	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr1:67263744C>A	ENST00000304526.2	-	2	394	c.360G>T	c.(358-360)ttG>ttT	p.L120F		NM_005478.4	NP_005469.2	Q9Y5Q6	INSL5_HUMAN	insulin-like 5	120						extracellular region	hormone activity			breast(2)|endometrium(1)|lung(5)	8						CAGTGCAACACAAAGTTTGTA	0.443000													13	58					1.05317e-09	1.245e-09	0.457914	1	0
SYNE1	23345	broad.mit.edu	37	6	152473247	152473247	+	Silent	SNP	C	C	G			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr6:152473247C>G	ENST00000367255.5	-	134	24760	c.24159G>C	c.(24157-24159)ctG>ctC	p.L8053L	SYNE1_ENST00000448038.1_Silent_p.L7982L|SYNE1_ENST00000265368.4_Silent_p.L8053L|SYNE1_ENST00000539504.1_Silent_p.L208L|SYNE1_ENST00000423061.1_Silent_p.L7982L|SYNE1_ENST00000341594.5_Silent_p.L7665L|SYNE1_ENST00000354674.4_Silent_p.L208L|SYNE1_ENST00000356820.4_Silent_p.L2577L|SYNE1_ENST00000347037.5_5'UTR	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8053					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCAGCTGCGTCAGGCACTCGT	0.542000										HNSCC(10;0.0054)			24	43					0	0	0.681144	0	0
ANKRD35	148741	broad.mit.edu	37	1	145561641	145561641	+	Silent	SNP	A	A	G			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr1:145561641A>G	ENST00000355594.4	+	10	1416	c.1329A>G	c.(1327-1329)caA>caG	p.Q443Q		NM_144698.3	NP_653299.3	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	443										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CAGGACAGCAACTGACTACCA	0.557000													18	95					0	0	0.539581	0	0
TTN	7273	broad.mit.edu	37	2	179396045	179396045	+	Silent	SNP	A	A	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr2:179396045A>T	ENST00000589042.1	-	358	105521	c.105297T>A	c.(105295-105297)tcT>tcA	p.S35099S	TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN_ENST00000359218.5_Silent_p.S26159S|TTN_ENST00000460472.2_Silent_p.S26034S|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN_ENST00000342175.6_Silent_p.S26226S|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000591111.1_Silent_p.S33458S|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Silent_p.S32531S|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	33458							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGCAGATGCAGAGTGTTCAT	0.408000													61	70					0	0	0.870114	0	0
TRPM3	80036	broad.mit.edu	37	9	73151003	73151003	+	Missense_Mutation	SNP	G	G	A	rs41287375	by1000genomes	TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr9:73151003G>A	ENST00000377110.2	-	25	5233	c.4990C>T	c.(4990-4992)Cgg>Tgg	p.R1664W	TRPM3_ENST00000377106.1_Missense_Mutation_p.R1536W|TRPM3_ENST00000357533.2_Missense_Mutation_p.R1668W|TRPM3_ENST00000396285.1_Missense_Mutation_p.R1523W|TRPM3_ENST00000358082.3_Missense_Mutation_p.R1526W|TRPM3_ENST00000423814.3_Missense_Mutation_p.R1691W|TRPM3_ENST00000408909.2_Missense_Mutation_p.R1523W|TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000396280.5_Missense_Mutation_p.R1513W|TRPM3_ENST00000360823.2_Missense_Mutation_p.R1526W|TRPM3_ENST00000377105.1_Missense_Mutation_p.R1523W|TRPM3_ENST00000396292.4_Missense_Mutation_p.R1536W	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1689						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GCTGTGTTCCGCTGCCTGTCG	0.577000													133	74					0	0	0.870114	0	0
ZNF835	90485	broad.mit.edu	37	19	57176448	57176448	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr19:57176448A>T	ENST00000537055.2	-	2	350	c.119T>A	c.(118-120)gTg>gAg	p.V40E		NM_001005850.2	NP_001005850.2			zinc finger protein 835											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						CTTGCAGGCCACGGCCTCTGG	0.597000													22	14					0	0	0.624587	0	0
UPP1	7378	broad.mit.edu	37	7	48141551	48141551	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr7:48141551A>G	ENST00000331803.4	+	6	916	c.293A>G	c.(292-294)tAt>tGt	p.Y98C	UPP1_ENST00000341253.4_Missense_Mutation_p.Y98C|UPP1_ENST00000395564.4_Missense_Mutation_p.Y98C|UPP1_ENST00000429491.2_Intron|UPP1_ENST00000482015.1_Intron			Q16831	UPP1_HUMAN	uridine phosphorylase 1	98					nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage	cytosol	uridine phosphorylase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	18						TATGCCATGTATAAAGTAGGA	0.562000													39	44					0	0	0.853193	0	0
SYT8	90019	broad.mit.edu	37	11	1858580	1858580	+	Silent	SNP	C	C	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr11:1858580C>T	ENST00000341958.3	+	8	1385	c.1083C>T	c.(1081-1083)ccC>ccT	p.P361P	SYT8_ENST00000381968.3_Silent_p.P375P|SYT8_ENST00000535046.1_3'UTR			Q8NBV8	SYT8_HUMAN	synaptotagmin VIII	375						acrosomal vesicle|integral to membrane|plasma membrane|synaptic vesicle	transporter activity			breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		AGCGGCACCCCCTGCGGCCAG	0.726000													4	11					0	0	0.150653	0	0
LDB3	11155	broad.mit.edu	37	10	88441336	88441336	+	Silent	SNP	C	C	T	rs45516997	byFrequency	TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr10:88441336C>T	ENST00000429277.2	+	5	610	c.465C>T	c.(463-465)ctC>ctT	p.L155L	LDB3_ENST00000263066.6_Intron|LDB3_ENST00000458213.2_Intron|LDB3_ENST00000372066.3_Intron|LDB3_ENST00000361373.4_Silent_p.L155L|LDB3_ENST00000310944.6_Silent_p.L155L|LDB3_ENST00000372056.4_Silent_p.L155L|LDB3_ENST00000352360.5_Intron|LDB3_ENST00000542786.1_Silent_p.L155L	NM_001171610.1	NP_001165081.1	O75112	LDB3_HUMAN	LIM domain binding 3	155						cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						TCTCCTCACTCGCCGAGGCCT	0.736000													3	42					0	0	0.115264	0	0
KIAA1644	85352	broad.mit.edu	37	22	44681338	44681338	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr22:44681338G>T	ENST00000381176.4	-	4	701	c.569C>A	c.(568-570)cCg>cAg	p.P190Q		NM_001099294.1	NP_001092764.1	Q3SXP7	K1644_HUMAN	KIAA1644	190						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9		all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222)				GGTCATCAGCGGTGGGCTGTG	0.617000													24	70					3.73988e-18	5.31288e-18	0.706142	1	0
ATR	545	broad.mit.edu	37	3	142272808	142272808	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr3:142272808T>A	ENST00000350721.4	-	11	2512	c.2391A>T	c.(2389-2391)gaA>gaT	p.E797D	ATR_ENST00000383101.3_Missense_Mutation_p.E733D	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	797					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						CTGTTTCATCTTCTCTAAAAT	0.308000								Other conserved DNA damage response genes					9	27					0	0	0.307466	0	0
SNORD114-1	767577	broad.mit.edu	37	14	101416185	101416185	+	RNA	SNP	G	G	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr14:101416185G>A	ENST00000362705.1	+	0	16					NR_003193.1																						CTATGATGATGACTGGTGGCG	0.353000													15	30					0	0	0.457914	0	0
PRSS1	5644	broad.mit.edu	37	7	142458515	142458515	+	Silent	SNP	C	C	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr7:142458515C>T	ENST00000486171.1	+	2	167	c.150C>T	c.(148-150)ggC>ggT	p.G50G	PRSS1_ENST00000311737.7_Silent_p.G50G			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	50	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			TCTGTGGTGGCTCCCTCATCA	0.562000													7	147					0	0	0.248553	0	0
SLC9A1	6548	broad.mit.edu	37	1	27480730	27480730	+	Silent	SNP	G	G	C			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr1:27480730G>C	ENST00000263980.3	-	1	671	c.96C>G	c.(94-96)ctC>ctG	p.L32L	SLC9A1_ENST00000374086.3_Silent_p.L32L|SLC9A1_ENST00000545949.1_5'UTR	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN	solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	32					regulation of pH	integral to membrane	sodium:hydrogen antiporter activity			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	CATGGCTCCTGAGAACAGGCA	0.607000													17	73					0	0	0.520397	0	0
ZNF16	7564	broad.mit.edu	37	8	146156251	146156251	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr8:146156251C>T	ENST00000276816.4	-	4	2108	c.1922G>A	c.(1921-1923)cGt>cAt	p.R641H	ZNF16_ENST00000394909.2_Missense_Mutation_p.R641H	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	641					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		GAGGACCGAACGCTGACTGAA	0.537000													49	69					0	0	0.870114	0	0
PAX3	5077	broad.mit.edu	37	2	223160317	223160317	+	Silent	SNP	G	G	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr2:223160317G>T	ENST00000350526.4	-	3	517	c.381C>A	c.(379-381)ggC>ggA	p.G127G	PAX3_ENST00000344493.4_Silent_p.G127G|PAX3_ENST00000258387.5_Silent_p.G127G|PAX3_ENST00000392070.2_Silent_p.G127G|PAX3_ENST00000409828.3_Silent_p.G127G|PAX3_ENST00000409551.3_Silent_p.G126G|PAX3_ENST00000392069.2_Silent_p.G127G|PAX3_ENST00000336840.6_Silent_p.G127G	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN	paired box 3	127	Paired.				apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGCTGAACATGCCCGGGTTCT	0.542000			T	"""FOXO1A, NCOA1"""	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome						17	58					3.32936e-07	3.77403e-07	0.539581	1	0
RBL2	5934	broad.mit.edu	37	16	53515618	53515618	+	Silent	SNP	A	A	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr16:53515618A>T	ENST00000262133.6	+	21	3257	c.3120A>T	c.(3118-3120)gtA>gtT	p.V1040V	RBL2_ENST00000379935.4_3'UTR|RBL2_ENST00000544545.1_Intron	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2 (p130)	1040					cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						ATCCATTTGTAAGAACAGGCT	0.333000													12	21					0	0	0.411799	0	0
ESPNP	284729	broad.mit.edu	37	1	17033809	17033809	+	RNA	SNP	G	G	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr1:17033809G>T	ENST00000492551.1	-	0	669					NR_026567.1																						CGCAGGCAGTGGGTGCAGTGG	0.662000													4	33					0.000602214	0.000645091	0.184627	1	0
STON2	85439	broad.mit.edu	37	14	81743750	81743750	+	Silent	SNP	G	G	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr14:81743750G>T	ENST00000555447.1	-	6	2317	c.1905C>A	c.(1903-1905)acC>acA	p.T635T	STON2_ENST00000267540.2_Silent_p.T635T	NM_001256430.1	NP_001243359.1	Q8WXE9	STON2_HUMAN	stonin 2	635	MHD.				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		ACTTTGTGGTGGTGGTGGGCA	0.517000													19	19					3.32936e-07	3.77403e-07	0.539581	1	0
HPSE2	60495	broad.mit.edu	37	10	100374727	100374727	+	Silent	SNP	C	C	G			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr10:100374727C>G	ENST00000370552.3	-	9	1313	c.1254G>C	c.(1252-1254)gtG>gtC	p.V418V	HPSE2_ENST00000404542.1_Silent_p.V306V|HPSE2_ENST00000370549.1_Silent_p.V360V|HPSE2_ENST00000370546.1_Silent_p.V418V	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2	418					carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		AGTGCCGTATCACGACATCAA	0.388000													53	113					0	0	0.870114	0	0
TPTE	7179	broad.mit.edu	37	21	10942750	10942750	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr21:10942750T>A	ENST00000298232.7	-	12	1004	c.637A>T	c.(637-639)Aca>Tca	p.T213S	TPTE_ENST00000361285.4_Missense_Mutation_p.T231S|TPTE_ENST00000342420.5_Missense_Mutation_p.T193S|TPTE_ENST00000415664.2_5'UTR	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	231					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CCATCCCTTGTGTATCGCCTT	0.313000													76	437					0	0	0.870114	0	0
KRT6A	3853	broad.mit.edu	37	12	52885323	52885323	+	Silent	SNP	C	C	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr12:52885323C>T	ENST00000330722.6	-	2	806	c.738G>A	c.(736-738)gtG>gtA	p.V246V		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	246	Coil 1B.|Rod.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		TGAAGTCCTCCACCAGGTCCT	0.542000													42	43					0	0	0.834066	0	0
C1orf173	127254	broad.mit.edu	37	1	75065541	75065541	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr1:75065541G>C	ENST00000326665.5	-	11	1782	c.1564C>G	c.(1564-1566)Caa>Gaa	p.Q522E	C1orf173_ENST00000420661.2_Missense_Mutation_p.Q325E|RP4-612J11.1_ENST00000416017.1_RNA	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	522	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CCATTCATTTGAACATCAGCC	0.383000													33	140					0	0	0.779181	0	0
CSMD1	64478	broad.mit.edu	37	8	3263580	3263580	+	Silent	SNP	C	C	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr8:3263580C>A	ENST00000602557.1	-	16	2793	c.2238G>T	c.(2236-2238)gtG>gtT	p.V746V	CSMD1_ENST00000400186.3_Silent_p.V746V|CSMD1_ENST00000539096.1_Silent_p.V745V|CSMD1_ENST00000537824.1_Silent_p.V745V|CSMD1_ENST00000602723.1_Silent_p.V746V|CSMD1_ENST00000520002.1_Silent_p.V746V|CSMD1_ENST00000542608.1_Silent_p.V745V			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	746	Sushi 4.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AGCTCCAGACCACGTTCCCGT	0.547000													13	28					6.53275e-17	8.97237e-17	0.457914	1	0
HMCN1	83872	broad.mit.edu	37	1	185932971	185932971	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr1:185932971G>T	ENST00000271588.4	+	13	2271	c.2042G>T	c.(2041-2043)tGc>tTc	p.C681F	HMCN1_ENST00000485744.1_3'UTR|HMCN1_ENST00000367492.2_Missense_Mutation_p.C681F	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	681	Ig-like C2-type 3.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ATCTATGGTTGCCTAGCAAGT	0.328000													57	86					1.45723e-30	2.23307e-30	0.870114	1	0
RBM46	166863	broad.mit.edu	37	4	155720682	155720682	+	Silent	SNP	G	G	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr4:155720682G>A	ENST00000510397.1	+	4	1547	c.1368G>A	c.(1366-1368)aaG>aaA	p.K456K	RBM46_ENST00000281722.3_Silent_p.K456K|RBM46_ENST00000514866.1_Silent_p.K456K	NM_001277173.1	NP_001264102.1	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	456							nucleotide binding|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				AAGATGCAAAGGAACTGGCAG	0.323000													3	18					0	0	0.150653	0	0
RYR2	6262	broad.mit.edu	37	1	237880546	237880546	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr1:237880546C>T	ENST00000366574.2	+	72	10689	c.10372C>T	c.(10372-10374)Cgg>Tgg	p.R3458W	RYR2_ENST00000542537.1_Missense_Mutation_p.R3442W|RYR2_ENST00000360064.6_Missense_Mutation_p.R3456W	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3458					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CAAAGGAGATCGGTATTCCAT	0.493000													19	12					0	0	0.608945	0	0
NAA25	80018	broad.mit.edu	37	12	112516501	112516501	+	Silent	SNP	C	C	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr12:112516501C>A	ENST00000261745.4	-	6	770	c.522G>T	c.(520-522)ctG>ctT	p.L174L		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	174						cytoplasm	protein binding	p.L174L(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						CAGCAAGGGGCAGAAACATTG	0.368000													55	42					7.37877e-41	1.18562e-40	0.870114	1	0
TONSL	4796	broad.mit.edu	37	8	145661513	145661513	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr8:145661513C>T	ENST00000409379.3	-	17	2332	c.2303G>A	c.(2302-2304)cGg>cAg	p.R768Q	AC084125.4_ENST00000544423.1_RNA	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	768					cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						GGCTGCCACCCGTTGTGCTGT	0.711000													4	9					0	0	0.217242	0	0
KLHL1	57626	broad.mit.edu	37	13	70535565	70535565	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr13:70535565C>T	ENST00000377844.4	-	3	1451	c.692G>A	c.(691-693)aGt>aAt	p.S231N	KLHL1_ENST00000545028.1_Missense_Mutation_p.S38N	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	231	BTB.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		GGAGACTGAACTCAGAACAAG	0.438000													31	41					0	0	0.769981	0	0
ADAMTS14	140766	broad.mit.edu	37	10	72434578	72434578	+	Silent	SNP	C	C	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr10:72434578C>T	ENST00000373208.1	+	2	349	c.349C>T	c.(349-351)Ctg>Ttg	p.L117L	ADAMTS14_ENST00000373207.1_Silent_p.L117L	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	117					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						CGGGAAGGAACTGCACTTGCG	0.637000													18	23					0	0	0.539581	0	0
MGA	23269	broad.mit.edu	37	15	42058514	42058514	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr15:42058514A>T	ENST00000219905.7	+	24	8415	c.8234A>T	c.(8233-8235)aAa>aTa	p.K2745I	MGA_ENST00000545763.1_Missense_Mutation_p.K2536I|MGA_ENST00000566586.1_Missense_Mutation_p.K2536I|MGA_ENST00000570161.1_Missense_Mutation_p.K2745I|MGA_ENST00000389936.4_Missense_Mutation_p.K2706I	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	2706						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		TTCTTACCTAAAAAGATTTCT	0.378000													13	10					0	0	0.457914	0	0
FUT11	170384	broad.mit.edu	37	10	75532234	75532234	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr10:75532234G>T	ENST00000372841.3	+	1	186	c.143G>T	c.(142-144)cGg>cTg	p.R48L	FUT11_ENST00000394790.1_Missense_Mutation_p.R48L|AC022400.2_ENST00000595757.1_Silent_p.R49R	NM_173540.2	NP_775811.2	Q495W5	FUT11_HUMAN	fucosyltransferase 11 (alpha (1,3) fucosyltransferase)	48					protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	7	Prostate(51;0.0112)					GCGGTTTTCCGGCCGCCCTCG	0.741000													3	21					0.115264	0.117032	0.115264	1	0
PTCHD4	442213	broad.mit.edu	37	6	47846599	47846599	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr6:47846599C>G	ENST00000339488.4	-	3	2014	c.1981G>C	c.(1981-1983)Gtt>Ctt	p.V661L		NM_001013732.3	NP_001013754.3	Q6ZW05	CF138_HUMAN	patched domain containing 4	661						integral to membrane	hedgehog receptor activity										GCAATCAGAACAGGCACTGTG	0.483000													45	79					0	0	0.859065	0	0
CHRNA3	1136	broad.mit.edu	37	15	78909405	78909405	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr15:78909405G>A	ENST00000326828.5	-	4	722	c.338C>T	c.(337-339)gCa>gTa	p.A113V	CHRNA3_ENST00000348639.3_Missense_Mutation_p.A113V	NM_000743.4	NP_000734.2	P32297	ACHA3_HUMAN	cholinergic receptor, nicotinic, alpha 3 (neuronal)	113					activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GATCTTCTGTGCAGGGACACG	0.562000													13	11					0	0	0.479597	0	0
CASP3	836	broad.mit.edu	37	4	185553059	185553059	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr4:185553059C>A	ENST00000308394.4	-	6	605	c.343G>T	c.(343-345)Gtt>Ttt	p.V115F	CASP3_ENST00000393588.4_Missense_Mutation_p.V115F|CASP3_ENST00000517513.1_Missense_Mutation_p.V115F|CASP3_ENST00000523916.1_Missense_Mutation_p.V115F|CASP3_ENST00000393585.2_Missense_Mutation_p.V115F	NM_004346.3	NP_004337.2	P42574	CASP3_HUMAN	caspase 3, apoptosis-related cysteine peptidase	115					activation of caspase activity by cytochrome c|DNA fragmentation involved in apoptotic nuclear change|negative regulation of apoptosis|nerve growth factor receptor signaling pathway|nuclear fragmentation involved in apoptotic nuclear change|proteolysis|response to tumor necrosis factor	cytosol|mitochondrion|nucleoplasm|plasma membrane	cysteine-type endopeptidase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	12		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.057)|all_hematologic(60;0.0592)		all cancers(43;2.05e-27)|Epithelial(43;4.27e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.04e-11)|Colorectal(24;2e-05)|STAD - Stomach adenocarcinoma(60;2.35e-05)|GBM - Glioblastoma multiforme(59;4.94e-05)|COAD - Colon adenocarcinoma(29;0.00017)|BRCA - Breast invasive adenocarcinoma(30;0.000218)|LUSC - Lung squamous cell carcinoma(40;0.00904)|READ - Rectum adenocarcinoma(43;0.161)	Melatonin(DB01065)|Minocycline(DB01017)|Simvastatin(DB00641)	AGCACACAAACAAAACTGCTC	0.338000													38	73					6.48837e-15	8.5906e-15	0.853193	1	0
PRKACG	5568	broad.mit.edu	37	9	71628335	71628335	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr9:71628335A>G	ENST00000377276.2	-	1	704	c.674T>C	c.(673-675)cTa>cCa	p.L225P		NM_002732.3	NP_002723.2	P22612	KAPCG_HUMAN	protein kinase, cAMP-dependent, catalytic, gamma	225	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport	cytosol|nucleoplasm	ATP binding|cAMP-dependent protein kinase activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						GAGCACCCCTAGGGCCCACCA	0.612000													25	23					0	0	0.654019	0	0
FBLN1	2192	broad.mit.edu	37	22	45960816	45960816	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr22:45960816G>A	ENST00000348697.2	+	15	1897	c.1750G>A	c.(1750-1752)Gac>Aac	p.D584N	FBLN1_ENST00000442170.2_Missense_Mutation_p.D584N|FBLN1_ENST00000327858.6_Intron			P23142	FBLN1_HUMAN	fibulin 1	580					interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		AAGTAAAGAGGACTGCAGGGT	0.537000													16	22					0	0	0.500413	0	0
ARHGEF11	9826	broad.mit.edu	37	1	156917973	156917973	+	Splice_Site	SNP	C	C	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr1:156917973C>A	ENST00000368194.3	-	24	3192	c.2153_splice	c.e24+1	p.R718_splice	ARHGEF11_ENST00000361409.2_Splice_Site_p.R678_splice|ARHGEF11_ENST00000315174.8_Splice_Site_p.R94_splice	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	678					actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CATCACTTACCTGCGGCCCAT	0.587000													13	33					4.36969e-10	5.25952e-10	0.435327	1	0
BPI	671	broad.mit.edu	37	20	36935979	36935979	+	Silent	SNP	G	G	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr20:36935979G>A	ENST00000262865.4	+	2	242	c.153G>A	c.(151-153)caG>caA	p.Q51Q	CTD-2308N23.2_ENST00000437016.1_RNA	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	51					defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding			kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				CCAGCCAGCAGGGGACGGCCG	0.592000													36	82					0	0	0.804634	0	0
SLC5A3	6526	broad.mit.edu	37	21	35469090	35469090	+	Silent	SNP	T	T	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr21:35469090T>A	ENST00000381151.3	+	2	2105	c.1593T>A	c.(1591-1593)ctT>ctA	p.L531L	MRPS6_ENST00000399312.2_Intron	NM_006933.4	NP_008864.3	P53794	SC5A3_HUMAN	solute carrier family 5 (sodium/myo-inositol cotransporter), member 3	531						integral to plasma membrane	myo-inositol:sodium symporter activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						TTGTGAGCCTTCTCACACCAC	0.468000													26	32					0	0	0.693898	0	0
OBSL1	23363	broad.mit.edu	37	2	220432677	220432677	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr2:220432677G>A	ENST00000404537.1	-	3	1353	c.1297C>T	c.(1297-1299)Cgc>Tgc	p.R433C	OBSL1_ENST00000603926.1_Missense_Mutation_p.R433C|OBSL1_ENST00000373873.4_Missense_Mutation_p.R433C|OBSL1_ENST00000373876.1_Missense_Mutation_p.R433C|OBSL1_ENST00000265318.4_Missense_Mutation_p.R433C|OBSL1_ENST00000289656.3_Missense_Mutation_p.R20C	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	433					cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		CGGGGCAGGCGCTTCAGGATG	0.637000													10	35					0	0	0.335167	0	0
DDX25	29118	broad.mit.edu	37	11	125778353	125778353	+	Silent	SNP	G	G	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr11:125778353G>A	ENST00000263576.6	+	6	617	c.462G>A	c.(460-462)gtG>gtA	p.V154V	RP11-680F20.9_ENST00000533033.2_RNA|DDX25_ENST00000525943.1_3'UTR	NM_013264.4	NP_037396.3	Q9UHL0	DDX25_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 25	154	Helicase ATP-binding.				mRNA export from nucleus|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|nucleus	ATP binding|ATP-dependent RNA helicase activity|RNA binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)	10	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0203)|Lung NSC(97;0.0203)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.14e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.046)		CGGCATTTGTGTTGGCAATGT	0.463000													68	95					0	0	0.870114	0	0
DDX42	11325	broad.mit.edu	37	17	61895427	61895427	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr17:61895427G>A	ENST00000578681.1	+	19	3087	c.2486G>A	c.(2485-2487)aGc>aAc	p.S829N	DDX42_ENST00000457800.2_Missense_Mutation_p.S829N|DDX42_ENST00000359353.5_Missense_Mutation_p.S710N|DDX42_ENST00000582985.1_Intron|DDX42_ENST00000389924.2_Missense_Mutation_p.S829N|DDX42_ENST00000583590.1_Missense_Mutation_p.S829N	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42	829	Gly-rich.|His-rich.|Necessary for interaction with TP53BP2.				protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	p.S829I(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						AATCGGCATAGCGATAGTCCA	0.587000													20	52					0	0	0.592651	0	0
TFDP1	7027	broad.mit.edu	37	13	114288852	114288852	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr13:114288852G>T	ENST00000375370.5	+	8	834	c.622G>T	c.(622-624)Gaa>Taa	p.E208*	TFDP1_ENST00000544902.1_Nonsense_Mutation_p.E113*|TFDP1_ENST00000538138.1_Nonsense_Mutation_p.E113*	NM_007111.4	NP_009042.1	Q14186	TFDP1_HUMAN	transcription factor Dp-1	208	Dimerization (Potential).				cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|regulation of transcription from RNA polymerase II promoter	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding	p.E208*(1)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	all cancers(43;0.0576)			TTTGAAGGTGGAAAGACAGAG	0.398000										TSP Lung(29;0.18)			30	56					3.99451e-17	5.50909e-17	0.740014	1	0
OR5AC2	81050	broad.mit.edu	37	3	97806880	97806880	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr3:97806880C>G	ENST00000358642.2	+	1	864	c.864C>G	c.(862-864)aaC>aaG	p.N288K		NM_054106.1	NP_473447.1	Q9NZP5	O5AC2_HUMAN	olfactory receptor, family 5, subfamily AC, member 2	288					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						CCCTGCTAAACCCATTTATTT	0.358000													13	35					0	0	0.435327	0	0
MUC5B	727897	broad.mit.edu	37	11	1267214	1267214	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr11:1267214C>T	ENST00000447027.1	+	31	9171	c.9113C>T	c.(9112-9114)aCc>aTc	p.T3038I	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Missense_Mutation_p.T3035I			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3035	17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCCACAGCCACCAGTTCCAAA	0.612000													63	110					0	0	0.870114	0	0
CDC42EP1	11135	broad.mit.edu	37	22	37964340	37964340	+	Missense_Mutation	SNP	A	A	C			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr22:37964340A>C	ENST00000249014.4	+	3	1109	c.689A>C	c.(688-690)aAc>aCc	p.N230T		NM_152243.2	NP_689449.1	Q00587	BORG5_HUMAN	CDC42 effector protein (Rho GTPase binding) 1	230	8 X 7 AA tandem repeats of [PT]-[AT]-A- [ENT]-[PT]-[PTS]-[AG].				positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|endomembrane system|Golgi apparatus|plasma membrane	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(4)|prostate(5)	15	Melanoma(58;0.0574)					CCCGCTGCAAACCCCCCAGCC	0.672000													4	38					0	0	0.184627	0	0
SDK1	221935	broad.mit.edu	37	7	3991439	3991439	+	Missense_Mutation	SNP	G	G	A	rs138596298	byFrequency	TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr7:3991439G>A	ENST00000404826.2	+	7	1176	c.1037G>A	c.(1036-1038)cGc>cAc	p.R346H	SDK1_ENST00000389531.3_Missense_Mutation_p.R346H	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	346	Ig-like C2-type 3.			R -> H (in Ref. 1; AAP75619 and 2; BAB71066).	cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TTTGGAAGACGCCTCACCATC	0.617000													9	81					0	0	0.307466	0	0
DIP2A	23181	broad.mit.edu	37	21	47970476	47970476	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr21:47970476G>T	ENST00000318711.7	+	23	2844	c.2661G>T	c.(2659-2661)caG>caT	p.Q887H	DIP2A_ENST00000427143.2_Missense_Mutation_p.Q822H|DIP2A_ENST00000417564.2_Missense_Mutation_p.Q886H|DIP2A_ENST00000400274.1_Missense_Mutation_p.Q882H	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	886					multicellular organismal development	nucleus	catalytic activity|transcription factor binding	p.Q886H(1)|p.Q822H(1)|p.Q887H(1)		cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		GCATCCACCAGGTGGGCGTGT	0.582000													15	14					1.37285e-15	1.86235e-15	0.500413	1	0
TFAP2C	7022	broad.mit.edu	37	20	55206867	55206867	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr20:55206867G>T	ENST00000201031.2	+	3	784	c.541G>T	c.(541-543)Gac>Tac	p.D181Y	TFAP2C_ENST00000544508.1_Missense_Mutation_p.D12Y	NM_003222.3	NP_003213.1	Q92754	AP2C_HUMAN	transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma)	181					cell-cell signaling|male gonad development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			Colorectal(105;0.229)			CCAGAATGTCGACGACCAGCA	0.557000													27	47					4.59853e-10	5.5149e-10	0.693898	1	0
TBC1D21	161514	broad.mit.edu	37	15	74178467	74178467	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr15:74178467C>A	ENST00000300504.2	+	7	711	c.628C>A	c.(628-630)Ctc>Atc	p.L210I	TBC1D21_ENST00000535547.2_Missense_Mutation_p.L174I|TBC1D21_ENST00000562056.1_Missense_Mutation_p.L173I	NM_153356.1	NP_699187.1	Q8IYX1	TBC21_HUMAN	TBC1 domain family, member 21	210	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	17						CCTAGACATGCTCAGCACCCT	0.592000													26	36					9.39395e-14	1.21461e-13	0.706142	1	0
PPP2R5B	5526	broad.mit.edu	37	11	64694309	64694309	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr11:64694309G>A	ENST00000164133.2	+	3	947	c.325G>A	c.(325-327)Gag>Aag	p.E109K		NM_006244.3	NP_006235.1	Q15173	2A5B_HUMAN	protein phosphatase 2, regulatory subunit B', beta	109					signal transduction	cytoplasm|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)	21						AGCCCTCAACGAGCTGGTGGA	0.642000													14	67					0	0	0.479597	0	0
LMBRD2	92255	broad.mit.edu	37	5	36122394	36122394	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr5:36122394T>A	ENST00000296603.4	-	9	1570	c.1108A>T	c.(1108-1110)Aat>Tat	p.N370Y		NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	370						integral to membrane				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AATGTAGGATTATAAAAATAT	0.294000													17	27					0	0	0.557998	0	0
NHLRC2	374354	broad.mit.edu	37	10	115636548	115636548	+	Silent	SNP	C	C	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr10:115636548C>T	ENST00000369301.3	+	3	812	c.600C>T	c.(598-600)gaC>gaT	p.D200D		NM_198514.3	NP_940916.2	Q8NBF2	NHLC2_HUMAN	NHL repeat containing 2	200	Thioredoxin.				cell redox homeostasis					breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15				Epithelial(162;0.017)|all cancers(201;0.0187)		ATTACAAAGACAGGGGGCAGA	0.343000													23	39					0	0	0.624587	0	0
SLITRK2	84631	broad.mit.edu	37	X	144904874	144904874	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chrX:144904874C>A	ENST00000370490.1	+	1	5186	c.931C>A	c.(931-933)Cca>Aca	p.P311T	SLITRK2_ENST00000434188.2_Missense_Mutation_p.P311T|SLITRK2_ENST00000447897.2_Missense_Mutation_p.P311T|SLITRK2_ENST00000413937.2_Missense_Mutation_p.P311T|SLITRK2_ENST00000428560.2_Missense_Mutation_p.P311T			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	311						integral to membrane		p.P311A(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					GAGAAATCGTCCAACTCCTCG	0.552000													35	16					1.414e-09	1.6656e-09	0.788014	1	0
IL7R	3575	broad.mit.edu	37	5	35876359	35876359	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr5:35876359C>A	ENST00000303115.3	+	8	1280	c.1151C>A	c.(1150-1152)tCt>tAt	p.S384Y	IL7R_ENST00000343305.4_3'UTR	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	384				S -> P (in Ref. 7; AAH67537).	immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity	p.S384F(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			ATTCTCTCCTCTTCCAGGTCC	0.542000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency						31	38					1.56442e-22	2.28116e-22	0.760397	1	0
SEZ6L	23544	broad.mit.edu	37	22	26747058	26747058	+	Silent	SNP	C	C	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr22:26747058C>A	ENST00000529632.2	+	12	2644	c.2448C>A	c.(2446-2448)acC>acA	p.T816T	SEZ6L_ENST00000343706.4_Silent_p.T816T|SEZ6L_ENST00000411842.2_Silent_p.T13T|SEZ6L_ENST00000360929.3_Intron|SEZ6L_ENST00000248933.6_Silent_p.T816T|SEZ6L_ENST00000404234.3_Silent_p.T816T|SEZ6L_ENST00000402979.1_Silent_p.T589T|SEZ6L_ENST00000403121.1_Silent_p.T589T	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	816	Sushi 4.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						ATCACTCGACCCGCTTAATTT	0.542000													28	48					7.26314e-15	9.57809e-15	0.717897	1	0
TRPV5	56302	broad.mit.edu	37	7	142626165	142626165	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr7:142626165G>C	ENST00000265310.1	-	5	886	c.538C>G	c.(538-540)Cgg>Ggg	p.R180G	TRPV5_ENST00000442623.1_Missense_Mutation_p.R180G	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	180					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					ATGAGCAGCCGCACGATCTCC	0.612000													17	14					0	0	0.557998	0	0
ARHGAP11A	9824	broad.mit.edu	37	15	32929036	32929036	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr15:32929036A>G	ENST00000361627.3	+	12	2784	c.2062A>G	c.(2062-2064)Ata>Gta	p.I688V	ARHGAP11A_ENST00000543522.1_Missense_Mutation_p.I499V|ARHGAP11A_ENST00000565905.1_Missense_Mutation_p.I499V	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	688					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.I688V(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		AGAAACAACTATAAAATGTTA	0.323000													12	28					0	0	0.387290	0	0
PTPRD	5789	broad.mit.edu	37	9	8484231	8484231	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr9:8484231C>A	ENST00000381196.4	-	27	3844	c.3301G>T	c.(3301-3303)Gca>Tca	p.A1101S	PTPRD_ENST00000397606.3_Missense_Mutation_p.A680S|PTPRD_ENST00000397611.3_Missense_Mutation_p.A687S|PTPRD_ENST00000358503.5_Missense_Mutation_p.A1079S|PTPRD_ENST00000360074.4_Missense_Mutation_p.A1088S|PTPRD_ENST00000397617.3_Missense_Mutation_p.A680S|PTPRD_ENST00000355233.5_Missense_Mutation_p.A690S|PTPRD_ENST00000486161.1_Missense_Mutation_p.A690S|PTPRD_ENST00000356435.5_Missense_Mutation_p.A1101S|PTPRD_ENST00000540109.1_Missense_Mutation_p.A1101S|PTPRD_ENST00000537002.1_Missense_Mutation_p.A687S	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1101	Fibronectin type-III 8.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GCAGTCTTTGCCGTGACCCTG	0.473000										TSP Lung(15;0.13)			43	38					6.5261e-18	9.19209e-18	0.840704	1	0
MARS2	92935	broad.mit.edu	37	2	198570930	198570930	+	Silent	SNP	G	G	T	rs144114997		TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr2:198570930G>T	ENST00000282276.6	+	1	844	c.801G>T	c.(799-801)ccG>ccT	p.P267P	AC011997.1_ENST00000409845.1_Intron	NM_138395.3	NP_612404.1	Q96GW9	SYMM_HUMAN	methionyl-tRNA synthetase 2, mitochondrial	267					methionyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|methionine-tRNA ligase activity			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22					L-Methionine(DB00134)	GGGGCATTCCGGTGCCCGGGG	0.547000													31	52					2.61193e-14	3.43075e-14	0.740014	1	0
RQCD1	9125	broad.mit.edu	37	2	219452361	219452361	+	Silent	SNP	A	A	C			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr2:219452361A>C	ENST00000273064.6	+	5	858	c.483A>C	c.(481-483)acA>acC	p.T161T	RQCD1_ENST00000542068.1_Silent_p.T161T|RQCD1_ENST00000509807.2_Silent_p.T193T|RQCD1_ENST00000295701.5_Silent_p.T161T	NM_005444.2	NP_005435.1	Q92600	RCD1_HUMAN	RCD1 required for cell differentiation1 homolog (S. pombe)	161					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|sex differentiation|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)	15		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000192)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TATTAACAACAGAAATTATCC	0.303000													9	17					0	0	0.335167	0	0
TFAP2D	83741	broad.mit.edu	37	6	50683151	50683151	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr6:50683151C>T	ENST00000008391.3	+	2	590	c.362C>T	c.(361-363)gCg>gTg	p.A121V		NM_172238.3	NP_758438.2	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 delta (activating enhancer binding protein 2 delta)	121							DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					AATGCGCGGGCGCTCAAGTCG	0.607000													59	86					0	0	0.870114	0	0
ELN	2006	broad.mit.edu	37	7	73467602	73467602	+	Silent	SNP	T	T	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr7:73467602T>A	ENST00000252034.7	+	18	1458	c.1059T>A	c.(1057-1059)gtT>gtA	p.V353V	ELN_ENST00000358929.4_Silent_p.V353V|ELN_ENST00000466878.1_3'UTR|ELN_ENST00000380562.4_Silent_p.V353V|ELN_ENST00000320399.6_Silent_p.V353V|ELN_ENST00000357036.5_Silent_p.V358V|ELN_ENST00000380553.4_Silent_p.V236V|ELN_ENST00000458204.1_Silent_p.V343V|ELN_ENST00000445912.1_Silent_p.V353V|ELN_ENST00000429192.1_Silent_p.V358V|ELN_ENST00000380576.5_Silent_p.V353V|ELN_ENST00000414324.1_Silent_p.V348V|ELN_ENST00000380584.4_Silent_p.V339V|ELN_ENST00000320492.7_Silent_p.V317V|ELN_ENST00000380575.4_Silent_p.V343V	NM_000501.2	NP_000492.2	P15502	ELN_HUMAN	elastin	353	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	GGATTCCAGTTGTCCCAGGTG	0.587000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""						43	24					0	0	0.840704	0	0
KREMEN2	79412	broad.mit.edu	37	16	3014592	3014592	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr16:3014592C>A	ENST00000572045.1	+	1	376	c.71C>A	c.(70-72)tCg>tAg	p.S24*	KREMEN2_ENST00000319500.6_Nonsense_Mutation_p.S24*|KREMEN2_ENST00000575769.1_Nonsense_Mutation_p.S24*|KREMEN2_ENST00000575885.1_Nonsense_Mutation_p.S24*|KREMEN2_ENST00000571007.1_Nonsense_Mutation_p.S24*|KREMEN2_ENST00000303746.5_Nonsense_Mutation_p.S24*	NM_172229.2	NP_757384.1	Q8NCW0	KREM2_HUMAN	kringle containing transmembrane protein 2	24					Wnt receptor signaling pathway	integral to membrane				central_nervous_system(2)|endometrium(1)|large_intestine(1)	4						CGTGGGGCCTCGGCTGGGAGC	0.687000													9	34					0.00621372	0.00644746	0.335167	1	0
DNAH9	1770	broad.mit.edu	37	17	11865532	11865532	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr17:11865532A>G	ENST00000262442.3	+	68	13260	c.13192A>G	c.(13192-13194)Atc>Gtc	p.I4398V	DNAH9_ENST00000396001.2_Missense_Mutation_p.I710V|RP11-1096G20.5_ENST00000580270.1_RNA|DNAH9_ENST00000454412.2_Missense_Mutation_p.I4322V	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	4398					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGGGGCCTACATCCATGGCCT	0.517000													33	29					0	0	0.769981	0	0
BMPER	168667	broad.mit.edu	37	7	34085918	34085918	+	Splice_Site	SNP	G	G	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr7:34085918G>T	ENST00000297161.2	+	8	951	c.576_splice	c.e8-1	p.G193_splice	BMPER_ENST00000494786.1_3'UTR|BMPER_ENST00000426693.1_Splice_Site_p.G193_splice	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	193	VWFC 3.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						CTTTTCTTAGGGAGGCAGGAC	0.438000													34	116					1.22384e-17	1.70924e-17	0.769981	1	0
KCTD16	57528	broad.mit.edu	37	5	143587020	143587020	+	Missense_Mutation	SNP	T	T	G			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr5:143587020T>G	ENST00000507359.2	+	2	1834	c.743T>G	c.(742-744)gTg>gGg	p.V248G	KCTD16_ENST00000512467.1_Missense_Mutation_p.V248G	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	potassium channel tetramerization domain containing 16	248						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			TTCCACATGGTGGCCTGTAAC	0.428000													71	77					0	0	0.870114	0	0
FBN2	2201	broad.mit.edu	37	5	127782228	127782228	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr5:127782228C>G	ENST00000508053.1	-	13	1872	c.898G>C	c.(898-900)Gaa>Caa	p.E300Q	FBN2_ENST00000262464.4_Missense_Mutation_p.E300Q|FBN2_ENST00000508989.1_Missense_Mutation_p.E267Q			P35556	FBN2_HUMAN	fibrillin 2	300	EGF-like 4; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CATCTGCATTCAAAAGAGCCC	0.428000													38	67					0	0	0.812448	0	0
GPR112	139378	broad.mit.edu	37	X	135431752	135431752	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chrX:135431752G>T	ENST00000394143.1	+	6	6178	c.5887G>T	c.(5887-5889)Gct>Tct	p.A1963S	GPR112_ENST00000370652.1_Missense_Mutation_p.A1963S|GPR112_ENST00000412101.1_Missense_Mutation_p.A1758S|GPR112_ENST00000287534.4_Missense_Mutation_p.A1900S|GPR112_ENST00000394141.1_Missense_Mutation_p.A1758S	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1963					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ATCTTTAAGAGCTATCACTTC	0.418000													33	15					2.08457e-15	2.79349e-15	0.750413	1	0
SUCO	51430	broad.mit.edu	37	1	172579150	172579150	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr1:172579150G>C	ENST00000367723.3	+	23	4096	c.3972G>C	c.(3970-3972)caG>caC	p.Q1324H	SUCO_ENST00000263688.3_Missense_Mutation_p.Q1172H	NM_016227.2	NP_057311.2			SUN domain containing ossification factor																		CTTCATCACAGTCAGAAGAGT	0.403000													21	139					0	0	0.624587	0	0
DUSP27	92235	broad.mit.edu	37	1	167097826	167097826	+	Missense_Mutation	SNP	A	A	C	rs111745868	byFrequency	TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr1:167097826A>C	ENST00000361200.2	+	6	3624	c.3458A>C	c.(3457-3459)cAg>cCg	p.Q1153P	DUSP27_ENST00000443333.1_Missense_Mutation_p.Q1153P|DUSP27_ENST00000271385.5_Missense_Mutation_p.Q1153P|DUSP27_ENST00000485151.1_Intron			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	1153					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						ACCAAGCTGCAGAAAAGGAGG	0.527000													13	27					0	0	0.479597	0	0
SLC12A5	57468	broad.mit.edu	37	20	44682333	44682333	+	Silent	SNP	C	C	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr20:44682333C>A	ENST00000454036.1	+	20	2809	c.2733C>A	c.(2731-2733)gtC>gtA	p.V911V	SLC12A5_ENST00000243964.3_Silent_p.V888V	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	911					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CTGCGGAGGTCGAGGTGGTGG	0.542000													51	100					1.0442e-30	1.61509e-30	0.870114	1	0
POTEC	388468	broad.mit.edu	37	18	14542890	14542890	+	Missense_Mutation	SNP	G	G	C	rs45469098	by1000genomes	TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr18:14542890G>C	ENST00000358970.5	-	1	255	c.256C>G	c.(256-258)Cat>Gat	p.H86D	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	86			H -> D (in dbSNP:rs45469098).							NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						GAGTTGTCATGGTCTCCAGAA	0.592000													8	280					0	0	0.278610	0	0
KEAP1	9817	broad.mit.edu	37	19	10602746	10602746	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr19:10602746G>A	ENST00000171111.5	-	3	1379	c.832C>T	c.(832-834)Ccg>Tcg	p.P278S	KEAP1_ENST00000588024.1_5'UTR|KEAP1_ENST00000393623.2_Missense_Mutation_p.P278S	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	278	BACK.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			AGGAAGTTCGGCGTCAACGAG	0.612000													35	20					0	0	0.788014	0	0
SNRPD3	6634	broad.mit.edu	37	22	24964111	24964111	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr22:24964111G>C	ENST00000215829.3	+	3	873	c.286G>C	c.(286-288)Ggc>Cgc	p.G96R	SNRPD3_ENST00000402849.1_Missense_Mutation_p.G96R	NM_001278656.1|NM_004175.3	NP_001265585.1|NP_004166.1	P62318	SMD3_HUMAN	small nuclear ribonucleoprotein D3 polypeptide 18kDa	96	Arg/Lys-rich (basic).				histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	enzyme binding|histone pre-mRNA DCP binding	p.G96C(1)|p.G96S(1)		endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6						CTCAGGGGCTGGCCGAGGAAA	0.458000													26	38					0	0	0.693898	0	0
SPRY2	10253	broad.mit.edu	37	13	80911269	80911269	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr13:80911269T>A	ENST00000377102.1	-	2	1549	c.572A>T	c.(571-573)tAc>tTc	p.Y191F	SPRY2_ENST00000540649.1_Missense_Mutation_p.Y191F|SPRY2_ENST00000377104.3_Missense_Mutation_p.Y191F			O43597	SPY2_HUMAN	sprouty homolog 2 (Drosophila)	191	Cys-rich.|SPR.				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of gene expression|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein kinase B signaling cascade	cytosol|microtubule|ruffle membrane	protein serine/threonine kinase activator activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	12	Medulloblastoma(90;0.18)	Acute lymphoblastic leukemia(28;0.218)|Breast(118;0.244)		GBM - Glioblastoma multiforme(99;0.0318)		AGGCCTTGGGTAGGTGCACTC	0.537000													32	48					0	0	0.729181	0	0
SGOL2	151246	broad.mit.edu	37	2	201436615	201436615	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr2:201436615G>C	ENST00000357799.4	+	7	1644	c.1546G>C	c.(1546-1548)Gag>Cag	p.E516Q		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	516					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding			NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						ATTTCACCAGGAGAGTAAATT	0.313000													49	51					0	0	0.870114	0	0
PRC1	9055	broad.mit.edu	37	15	91512795	91512795	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr15:91512795G>A	ENST00000361188.5	-	13	2842	c.1631C>T	c.(1630-1632)gCc>gTc	p.A544V	PRC1-AS1_ENST00000554388.1_RNA|PRC1_ENST00000442656.2_Missense_Mutation_p.A503V|PRC1_ENST00000361919.3_Missense_Mutation_p.A544V|PRC1_ENST00000394249.3_Missense_Mutation_p.A544V|PRC1-AS1_ENST00000556200.1_RNA			O43663	PRC1_HUMAN	protein regulator of cytokinesis 1	544	Unstructured, Arg/Lys rich.				cytokinesis|mitotic spindle elongation	cytoplasm|nucleus|spindle microtubule|spindle pole	protein binding			endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25	Lung NSC(78;0.0987)|all_lung(78;0.175)					CTCCTTGTTGGCTCCATGCCT	0.552000													28	83					0	0	0.729181	0	0
MCM4	4173	broad.mit.edu	37	8	48883348	48883348	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr8:48883348G>T	ENST00000262105.2	+	11	1921	c.1712G>T	c.(1711-1713)tGc>tTc	p.C571F	MCM4_ENST00000523944.1_Missense_Mutation_p.C571F	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	571	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				AACGGCATCTGCTGTATCGAT	0.498000													18	34					1.67942e-08	1.95048e-08	0.539581	1	0
BRINP3	339479	broad.mit.edu	37	1	190067402	190067402	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr1:190067402G>T	ENST00000367462.3	-	8	2278	c.2047C>A	c.(2047-2049)Ctg>Atg	p.L683M	FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Missense_Mutation_p.L581M	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		683						extracellular region		p.L683M(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					TGCAAAATCAGGTCCCGAATT	0.463000													58	84					1.93748e-29	2.94177e-29	0.870114	1	0
TSLP	85480	broad.mit.edu	37	5	110407631	110407631	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr5:110407631A>T	ENST00000420978.2	+	2	1465	c.43A>T	c.(43-45)Agg>Tgg	p.R15W	TSLP_ENST00000344895.3_Missense_Mutation_p.R15W			Q969D9	TSLP_HUMAN	thymic stromal lymphopoietin	15						extracellular space	cytokine activity			breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11		all_cancers(142;2.72e-05)|all_epithelial(76;4.39e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0417)|Ovarian(225;0.0443)|Colorectal(57;0.0464)|all_lung(232;0.0507)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.24e-08)|Epithelial(69;1.54e-07)|all cancers(49;1.73e-05)|COAD - Colon adenocarcinoma(37;0.109)		AGTTTCTTTCAGGAAAATCTT	0.408000													51	67					0	0	0.870114	0	0
TBX2	6909	broad.mit.edu	37	17	59483009	59483009	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr17:59483009C>A	ENST00000240328.3	+	6	1779	c.1498C>A	c.(1498-1500)Cct>Act	p.P500T	RP11-332H18.4_ENST00000592009.1_RNA	NM_005994.3	NP_005985.3	Q13207	TBX2_HUMAN	T-box 2	500	Gly-rich.				cell aging|positive regulation of cell proliferation		sequence-specific DNA binding			endometrium(1)|lung(7)|ovary(1)	9						CACCATGGGCCCTGGCGCCTT	0.716000													4	3					0.184627	0.185187	0.184627	1	0
PCDHGA2	56113	broad.mit.edu	37	5	140720243	140720243	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr5:140720243A>T	ENST00000394576.2	+	1	1705	c.1705A>T	c.(1705-1707)Aca>Tca	p.T569S	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCCTTCCCCACAGACGGTTC	0.637000													100	153					0	0	0.870114	0	0
PMS2	5395	broad.mit.edu	37	7	6029588	6029588	+	Splice_Site	SNP	T	T	C			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr7:6029588T>C	ENST00000265849.7	-	10	1094		c.e10-2		PMS2_ENST00000382321.4_Intron|PMS2_ENST00000441476.2_Splice_Site|PMS2_ENST00000406569.3_Splice_Site|PMS2_ENST00000469652.1_Intron	NM_000535.5	NP_000526.1	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)						mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		CAACGCATTCTAAGGCAAAAA	0.313000			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				18	17					0	0	0.520397	0	0
DNM1P46	196968	broad.mit.edu	37	15	100331207	100331207	+	RNA	SNP	G	G	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr15:100331207G>T	ENST00000341853.1	-	0	2984					NR_003260.1																						TGGGCTTGGAGCATTAAGGCC	0.562000													43	117					1.19451e-25	1.77302e-25	0.870114	1	0
OR5M3	219482	broad.mit.edu	37	11	56237637	56237637	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr11:56237637G>C	ENST00000312240.2	-	1	377	c.337C>G	c.(337-339)Ctt>Gtt	p.L113V		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	113					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					ATCGCAGCAAGAATAAAAATT	0.373000													43	90					0	0	0.847076	0	0
COL6A6	131873	broad.mit.edu	37	3	130284398	130284398	+	Silent	SNP	C	C	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr3:130284398C>A	ENST00000358511.6	+	3	1253	c.1222C>A	c.(1222-1224)Cgg>Agg	p.R408R	COL6A6_ENST00000453409.2_Silent_p.R408R	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	408	Nonhelical region.|VWFA 2.				axon guidance|cell adhesion	collagen		p.R408W(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GAAGAAGCTGCGGAACCAAAT	0.463000													8	13					5.18039e-06	5.75406e-06	0.278610	1	0
CCDC39	339829	broad.mit.edu	37	3	180372601	180372601	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr3:180372601A>T	ENST00000273654.4	-	13	1750	c.1131T>A	c.(1129-1131)tgT>tgA	p.C377*	CCDC39_ENST00000442201.2_Nonsense_Mutation_p.C293*			Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	293					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			ATGCCGTTCTACATTTTAAAA	0.358000													13	20					0	0	0.457914	0	0
GIMAP8	155038	broad.mit.edu	37	7	150174248	150174248	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr7:150174248G>T	ENST00000307271.3	+	5	1952	c.1378G>T	c.(1378-1380)Ggg>Tgg	p.G460W		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	460						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding	p.G460W(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		CTCTATCCTGGGGAGCCTCGT	0.592000													20	48					6.44725e-10	7.70412e-10	0.624587	1	0
LOC645166	645166	broad.mit.edu	37	1	148932838	148932838	+	RNA	SNP	G	G	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr1:148932838G>A	ENST00000539543.1	+	0	94					NR_027355.1																						GAGCTGCCCAGCATGGCTGCA	0.607000													47	205					0	0	0.870114	0	0
SALL1	6299	broad.mit.edu	37	16	51173592	51173592	+	Silent	SNP	G	G	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr16:51173592G>A	ENST00000440970.1	-	2	2681	c.2250C>T	c.(2248-2250)tcC>tcT	p.S750S	SALL1_ENST00000251020.4_Silent_p.S847S|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	847					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			AGCTGTCTTGGGAGGCGTCTG	0.488000													66	64					0	0	0.870114	0	0
LAMA3	3909	broad.mit.edu	37	18	21461922	21461922	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr18:21461922G>T	ENST00000313654.9	+	40	5376	c.5135G>T	c.(5134-5136)gGa>gTa	p.G1712V	LAMA3_ENST00000399516.3_Missense_Mutation_p.G1712V|LAMA3_ENST00000269217.6_Missense_Mutation_p.G103V|LAMA3_ENST00000587184.1_Missense_Mutation_p.G103V	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1712	Domain III A.|Laminin EGF-like 13.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AACACCGCGGGAGAGCACTGT	0.547000													10	20					1.08611e-07	1.24395e-07	0.387290	1	0
TRPM6	140803	broad.mit.edu	37	9	77436629	77436629	+	Silent	SNP	C	C	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr9:77436629C>A	ENST00000451710.3	-	8	1203	c.966G>T	c.(964-966)gcG>gcT	p.A322A	TRPM6_ENST00000483186.1_5'UTR|TRPM6_ENST00000449912.2_Silent_p.A317A|TRPM6_ENST00000376864.4_Silent_p.A322A|TRPM6_ENST00000376871.3_Silent_p.A322A|TRPM6_ENST00000376872.3_Silent_p.A322A|TRPM6_ENST00000361255.3_Silent_p.A317A|TRPM6_ENST00000360774.1_Silent_p.A322A			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	322					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GGAGGTCAGCCGCCCTACCTG	0.542000													32	22					1.62565e-12	2.04597e-12	0.760397	1	0
RNASE3	6037	broad.mit.edu	37	14	21360027	21360027	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr14:21360027G>A	ENST00000304639.3	+	2	240	c.182G>A	c.(181-183)cGa>cAa	p.R61Q		NM_002935.2	NP_002926.2	P12724	ECP_HUMAN	ribonuclease, RNase A family, 3	61					defense response to bacterium|RNA catabolic process	extracellular region|soluble fraction	nucleic acid binding|pancreatic ribonuclease activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)	9	all_cancers(95;0.00453)		OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)	Pranlukast(DB01411)	AACAATTATCGATGGCGTTGC	0.443000													26	25					0	0	0.667858	0	0
SLIT3	6586	broad.mit.edu	37	5	168671714	168671714	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr5:168671714C>A	ENST00000519560.1	-	3	755	c.336G>T	c.(334-336)gaG>gaT	p.E112D	SLIT3_ENST00000332966.8_Missense_Mutation_p.E112D|SLIT3_ENST00000404867.3_Missense_Mutation_p.E112D|SLIT3_ENST00000521130.1_5'UTR	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	112					apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTTACAGTCGCTCTAGCTGCT	0.413000													21	28					0.00152264	0.0016102	0.592651	1	0
PTPRG	5793	broad.mit.edu	37	3	62063885	62063885	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr3:62063885G>A	ENST00000474889.1	+	5	945	c.568G>A	c.(568-570)Gca>Aca	p.A190T	PTPRG_ENST00000295874.10_Missense_Mutation_p.A190T	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	190	Alpha-carbonic anhydrase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		CTTTCAAACCGCAATTTCTGA	0.294000													17	37					0	0	0.557998	0	0
TRPC6	7225	broad.mit.edu	37	11	101375429	101375429	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr11:101375429G>A	ENST00000344327.3	-	2	695	c.271C>T	c.(271-273)Cgc>Tgc	p.R91C	TRPC6_ENST00000532133.1_Missense_Mutation_p.R91C|TRPC6_ENST00000348423.4_Missense_Mutation_p.R91C|TRPC6_ENST00000360497.4_Missense_Mutation_p.R91C	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	91					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		CTTGTGGAGCGATCACTAAAC	0.507000													32	111					0	0	0.796494	0	0
RASIP1	54922	broad.mit.edu	37	19	49224080	49224080	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr19:49224080C>T	ENST00000222145.4	-	12	3071	c.2867G>A	c.(2866-2868)gGg>gAg	p.G956E		NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN	Ras interacting protein 1	956					signal transduction	Golgi stack|perinuclear region of cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		CACGGGAGGCCCATGGCGATA	0.612000													95	44					0	0	0.870114	0	0
HTR1E	3354	broad.mit.edu	37	6	87725995	87725995	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr6:87725995G>T	ENST00000305344.4	+	2	1646	c.943G>T	c.(943-945)Ggt>Tgt	p.G315C	HTR1E_ENST00000369584.1_Missense_Mutation_p.G315C	NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	315					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	GTTGATTGTGGGTCTGAGCAT	0.498000													71	55					7.46257e-40	1.19329e-39	0.870114	1	0
PDS5B	23047	broad.mit.edu	37	13	33247430	33247430	+	Silent	SNP	G	G	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr13:33247430G>A	ENST00000315596.10	+	8	969	c.783G>A	c.(781-783)gaG>gaA	p.E261E		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	261					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		TAATTTTGGAGCTCTACAATA	0.338000													27	54					0	0	0.706142	0	0
GDF2	2658	broad.mit.edu	37	10	48413967	48413967	+	Missense_Mutation	SNP	C	C	G	rs41314469		TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr10:48413967C>G	ENST00000249598.1	-	2	1060	c.901G>C	c.(901-903)Gag>Cag	p.E301Q		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	301					activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						GTGTCCTCCTCGTGACTGCTC	0.622000													29	47					0	0	0.729181	0	0
OR2L13	284521	broad.mit.edu	37	1	248263312	248263312	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr1:248263312G>T	ENST00000366478.2	+	3	972	c.635G>T	c.(634-636)gGc>gTc	p.G212V	OR2L13_ENST00000358120.2_Missense_Mutation_p.G212V	NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	212					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding	p.G212D(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			CCTTTCATTGGCATCACTTCT	0.428000													35	74					2.42023e-17	3.35187e-17	0.779181	1	0
SMTNL1	219537	broad.mit.edu	37	11	57317484	57317484	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr11:57317484G>A	ENST00000457912.1	+	8	1438	c.1438G>A	c.(1438-1440)Gtg>Atg	p.V480M	SMTNL1_ENST00000527972.1_Missense_Mutation_p.V462M|SMTNL1_ENST00000399154.2_Missense_Mutation_p.V425M			E9PPJ3	E9PPJ3_HUMAN	smoothelin-like 1	462										endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						GGATGACATGGTGCGGTTGGC	0.537000													12	27					0	0	0.411799	0	0
SLC39A12	221074	broad.mit.edu	37	10	18270307	18270307	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr10:18270307G>T	ENST00000377369.2	+	6	1264	c.991G>T	c.(991-993)Gag>Tag	p.E331*	SLC39A12_ENST00000377374.4_Nonsense_Mutation_p.E331*|SLC39A12_ENST00000377371.3_Nonsense_Mutation_p.E331*|SLC39A12_ENST00000539911.1_Nonsense_Mutation_p.E197*	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	331					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						CATTTCTAAGGAGGACTTTAA	0.483000													24	59					1.64293e-13	2.116e-13	0.654019	1	0
ASS1	445	broad.mit.edu	37	9	133333920	133333920	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr9:133333920G>C	ENST00000372394.1	+	5	788	c.307G>C	c.(307-309)Gtg>Ctg	p.V103L	ASS1_ENST00000372393.3_Missense_Mutation_p.V103L|ASS1_ENST00000352480.5_Missense_Mutation_p.V103L			P00966	ASSY_HUMAN	argininosuccinate synthase 1	103					arginine biosynthetic process|urea cycle	cytosol	argininosuccinate synthase activity|ATP binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	CCGCAAACAAGTGGAAATCGC	0.652000													3	55					0	0	0.115264	0	0
OR6N1	128372	broad.mit.edu	37	1	158736044	158736044	+	Silent	SNP	C	C	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr1:158736044C>T	ENST00000335094.2	-	1	448	c.429G>A	c.(427-429)gaG>gaA	p.E143E		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	143					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					CAATGGCAATCTCTGCACAAA	0.537000													12	34					0	0	0.411799	0	0
WIPF1	7456	broad.mit.edu	37	2	175437061	175437061	+	Silent	SNP	T	T	G			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr2:175437061T>G	ENST00000392547.2	-	5	571	c.472A>C	c.(472-474)Aga>Cga	p.R158R	WIPF1_ENST00000359761.3_Silent_p.R158R|AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000409415.3_Silent_p.R158R|WIPF1_ENST00000272746.5_Silent_p.R158R|WIPF1_ENST00000409891.1_Silent_p.R158R|AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000392546.2_Silent_p.R158R	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	158					actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding			NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						GGACCACTTCTGTGGCCTGGA	0.602000													18	64					0	0	0.539581	0	0
NPY4R	5540	broad.mit.edu	37	10	47087797	47087797	+	Silent	SNP	G	G	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr10:47087797G>T	ENST00000374312.1	+	3	1433	c.1014G>T	c.(1012-1014)ctG>ctT	p.L338L	NPY4R_ENST00000395716.1_Silent_p.L338L	NM_005972.4	NP_005963.3			neuropeptide Y receptor Y4																		CCCTGGTGCTGACTTGCCAGC	0.567000													21	83					5.26018e-13	6.69661e-13	0.608945	1	0
STK11	6794	broad.mit.edu	37	19	1221261	1221261	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr19:1221261A>T	ENST00000326873.7	+	6	1957	c.784A>T	c.(784-786)Aag>Tag	p.K262*		NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	262	Protein kinase.				anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(20)|p.?(2)|p.Y246fs*3(1)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		CAACATCTACAAGTTGTTTGA	0.582000		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)			12	4					0	0	0.435327	0	0
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													6	59					0	0	0.248553	0	0
DRD2	1813	broad.mit.edu	37	11	113295259	113295259	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr11:113295259T>A	ENST00000362072.3	-	2	459	c.115A>T	c.(115-117)Aca>Tca	p.T39S	DRD2_ENST00000346454.3_Missense_Mutation_p.T39S|DRD2_ENST00000355319.2_Missense_Mutation_p.T39S|DRD2_ENST00000538967.1_Missense_Mutation_p.T39S|DRD2_ENST00000544518.1_Missense_Mutation_p.T39S|DRD2_ENST00000542968.1_Missense_Mutation_p.T39S	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	39					activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	GTGAGCAGTGTGGCATAGTAG	0.587000													30	54					0	0	0.740014	0	0
MTUS2	23281	broad.mit.edu	37	13	30062124	30062124	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr13:30062124C>A	ENST00000431530.3	+	9	3575	c.3517C>A	c.(3517-3519)Cac>Aac	p.H1173N	MTUS2_ENST00000380808.2_Missense_Mutation_p.H142N|MTUS2_ENST00000542829.1_Missense_Mutation_p.H52N	NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	1163						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						GCAGGATGACCACGACCACAA	0.577000													23	63					1.33986e-20	1.94515e-20	0.681144	1	0
PCDH18	54510	broad.mit.edu	37	4	138442835	138442835	+	Missense_Mutation	SNP	G	G	T	rs139751813		TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr4:138442835G>T	ENST00000344876.4	-	4	3142	c.2756C>A	c.(2755-2757)aCg>aAg	p.T919K	PCDH18_ENST00000511115.1_Missense_Mutation_p.T99K|PCDH18_ENST00000507846.1_Missense_Mutation_p.T698K|PCDH18_ENST00000412923.2_Missense_Mutation_p.T918K|PCDH18_ENST00000510305.1_Missense_Mutation_p.T130K	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	919	Interaction with DAB1 (By similarity).				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					GCACTCCTCCGTGCAGAGTCT	0.433000													67	71					3.00472e-47	4.85153e-47	0.870114	1	0
WNT7A	7476	broad.mit.edu	37	3	13860915	13860915	+	Silent	SNP	C	C	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr3:13860915C>T	ENST00000285018.4	-	4	880	c.576G>A	c.(574-576)ctG>ctA	p.L192L		NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family, member 7A	192					activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						TGTTCTCCTCCAGGATCTGCA	0.657000													19	56					0	0	0.575678	0	0
FAM46D	169966	broad.mit.edu	37	X	79699185	79699185	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chrX:79699185C>T	ENST00000538312.1	+	5	1481	c.1147C>T	c.(1147-1149)Cgt>Tgt	p.R383C	FAM46D_ENST00000308293.5_Missense_Mutation_p.R383C	NM_001170574.1	NP_001164045.1	Q8NEK8	FA46D_HUMAN	family with sequence similarity 46, member D	383										kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						ACTGCACTTTCGTGGATCAAA	0.403000													15	6					0	0	0.557998	0	0
RP1L1	94137	broad.mit.edu	37	8	10467346	10467346	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr8:10467346G>T	ENST00000382483.3	-	4	4485	c.4262C>A	c.(4261-4263)tCc>tAc	p.S1421Y		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1421					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		ATCTTCCTGGGAGCCTTTCCC	0.607000													166	362					2.05284e-59	3.34724e-59	0.870114	1	0
GALNT15	117248	broad.mit.edu	37	3	16237266	16237266	+	Splice_Site	SNP	G	G	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr3:16237266G>A	ENST00000339732.5	+	2	1042		c.e2-1		GALNT15_ENST00000437509.1_Splice_Site	NM_054110.4	NP_473451.3			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15																		CTTCCCTGCAGGTGTCTGCAG	0.597000													10	33					0	0	0.361761	0	0
GLT8D2	83468	broad.mit.edu	37	12	104393232	104393232	+	Silent	SNP	C	C	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr12:104393232C>T	ENST00000360814.4	-	6	750	c.345G>A	c.(343-345)ccG>ccA	p.P115P	GLT8D2_ENST00000546436.1_Silent_p.P115P|GLT8D2_ENST00000548660.1_Silent_p.P115P	NM_031302.3	NP_112592.1	Q9H1C3	GL8D2_HUMAN	glycosyltransferase 8 domain containing 2	115						integral to membrane	transferase activity, transferring glycosyl groups			kidney(3)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						TGAGGACCATCGGGTTGAATT	0.438000													66	43					0	0	0.870114	0	0
DNM1P46	196968	broad.mit.edu	37	15	100331208	100331208	+	RNA	SNP	C	C	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr15:100331208C>A	ENST00000341853.1	-	0	2983					NR_003260.1																						GGGCTTGGAGCATTAAGGCCA	0.567000													43	117					4.64027e-19	6.64904e-19	0.870114	1	0
SOCS6	9306	broad.mit.edu	37	18	67992908	67992908	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr18:67992908A>T	ENST00000397942.3	+	2	1320	c.1004A>T	c.(1003-1005)cAc>cTc	p.H335L	SOCS6_ENST00000582322.1_Missense_Mutation_p.H335L	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	335					defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth	cytoplasm				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				ACAGAAGCCCACGTGGCTGAA	0.488000													13	42					0	0	0.435327	0	0
BOC	91653	broad.mit.edu	37	3	112993230	112993230	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr3:112993230C>A	ENST00000495514.1	+	9	1947	c.1243C>A	c.(1243-1245)Cca>Aca	p.P415T	BOC_ENST00000273395.4_Missense_Mutation_p.P415T|BOC_ENST00000355385.3_Missense_Mutation_p.P415T			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	415					cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			AGGCATAACCCCAAGGCTATG	0.552000													22	62					5.35356e-11	6.56307e-11	0.639603	1	0
TAS2R60	338398	broad.mit.edu	37	7	143140732	143140732	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr7:143140732G>T	ENST00000332690.1	+	1	187	c.187G>T	c.(187-189)Ggg>Tgg	p.G63W	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	63					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					GGTTAGCCTAGGGGCCTCTCG	0.498000													63	61					1.53122e-18	2.18463e-18	0.870114	1	0
SRSF2	6427	broad.mit.edu	37	17	74732914	74732914	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr17:74732914T>C	ENST00000392485.2	-	1	501	c.329A>G	c.(328-330)tAc>tGc	p.Y110C	MFSD11_ENST00000586622.1_5'UTR|SRSF2_ENST00000508921.3_Intron|MFSD11_ENST00000588460.1_5'UTR|RP11-318A15.7_ENST00000587459.1_Intron|SRSF2_ENST00000359995.5_Missense_Mutation_p.Y110C	NM_003016.4	NP_003007.2	Q01130	SRSF2_HUMAN	serine/arginine-rich splicing factor 2	110					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|protein binding|RNA binding|transcription corepressor activity			haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)	329						ACCGCCCCCGTACCTGCGGGG	0.786000			Mis		"""MDS, CLL"""								9	22					0	0	0.335167	0	0
FBXO15	201456	broad.mit.edu	37	18	71793305	71793305	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr18:71793305T>A	ENST00000269500.5	-	6	924	c.589A>T	c.(589-591)Aat>Tat	p.N197Y	FBXO15_ENST00000419743.2_Missense_Mutation_p.N273Y	NM_152676.2	NP_689889.1	Q8NCQ5	FBX15_HUMAN	F-box protein 15	197										autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		TGACTCAGATTGTACTTTGCA	0.463000													27	93					0	0	0.729181	0	0
GPR148	344561	broad.mit.edu	37	2	131486911	131486911	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr2:131486911A>T	ENST00000309926.4	+	1	269	c.187A>T	c.(187-189)Aca>Tca	p.T63S		NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	63						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					GGCTGCAGCCACACTGGCTGT	0.632000													32	36					0	0	0.760397	0	0
ZFHX4	79776	broad.mit.edu	37	8	77761847	77761847	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr8:77761847C>T	ENST00000521891.2	+	8	4193	c.3745C>T	c.(3745-3747)Cct>Tct	p.P1249S	ZFHX4_ENST00000518282.1_Missense_Mutation_p.P1223S|ZFHX4_ENST00000455469.2_Missense_Mutation_p.P1204S|ZFHX4_ENST00000050961.6_Missense_Mutation_p.P1204S	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1204						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CATCTGCTGTCCTCTCTGTCA	0.488000										HNSCC(33;0.089)			10	66					0	0	0.335167	0	0
UBBP4	23666	broad.mit.edu	37	17	21731316	21731316	+	Silent	SNP	A	A	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr17:21731316A>T	ENST00000584755.1	+	2	1015	c.618A>T	c.(616-618)gtA>gtT	p.V206V	UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000578713.1_Intron																endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						AGATGGCGGTACTCTTTCTGA	0.517000													49	52					0	0	0.870114	0	0
TVP23C	201158	broad.mit.edu	37	17	15406338	15406338	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr17:15406338G>A	ENST00000225576.3	-	6	766	c.671C>T	c.(670-672)cCa>cTa	p.P224L	TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000519970.1_Intron	NM_145301.2	NP_660344.2			trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)																		ACGAAGAGGTGGAGAACTAAG	0.587000													16	49					0	0	0.479597	0	0
GBP4	115361	broad.mit.edu	37	1	89662846	89662846	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr1:89662846A>G	ENST00000355754.6	-	2	279	c.182T>C	c.(181-183)cTa>cCa	p.L61P		NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	61						cytoplasm	GTP binding|GTPase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		TGTGCGGTATAGCCCTACAAT	0.478000													27	35					0	0	0.693898	0	0
DCDC1	341019	broad.mit.edu	37	11	31312227	31312227	+	Missense_Mutation	SNP	A	A	C			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr11:31312227A>C	ENST00000597505.1	-	5	926	c.927T>G	c.(925-927)caT>caG	p.H309Q	DCDC1_ENST00000452803.1_Missense_Mutation_p.H309Q			P59894	DCDC1_HUMAN	doublecortin domain containing 1	309					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					CTGTAATCTCATGCCCATCCT	0.348000													32	41					0	0	0.760397	0	0
CNTN5	53942	broad.mit.edu	37	11	99941210	99941210	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr11:99941210C>A	ENST00000524871.1	+	11	1507	c.1217C>A	c.(1216-1218)cCt>cAt	p.P406H	CNTN5_ENST00000527185.1_Missense_Mutation_p.P406H|CNTN5_ENST00000528682.1_Missense_Mutation_p.P406H|CNTN5_ENST00000279463.3_Missense_Mutation_p.P406H|CNTN5_ENST00000418526.2_Missense_Mutation_p.P332H	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	406	Ig-like C2-type 4.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		AGTGGGAGCCCTCTCCGATGG	0.458000													6	24					0.00116845	0.0012396	0.217242	1	0
SPTLC3	55304	broad.mit.edu	37	20	13055137	13055137	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr20:13055137A>T	ENST00000399002.2	+	4	873	c.599A>T	c.(598-600)cAt>cTt	p.H200L	SPTLC3_ENST00000378194.4_Missense_Mutation_p.H200L	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	200					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	AGCACCAGGCATGAAATGGGT	0.423000													73	109					0	0	0.870114	0	0
RP11-50E11.3	0	broad.mit.edu	37	10	52389893	52389893	+	RNA	SNP	G	G	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr10:52389893G>T	ENST00000443374.1	+	0	586																											TGTATGCTGGGTCGTTTTCCT	0.403000													10	20					4.68919e-08	5.38931e-08	0.361761	1	0
OR4C12	283093	broad.mit.edu	37	11	50003155	50003155	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr11:50003155C>T	ENST00000335238.4	-	1	916	c.883G>A	c.(883-885)Gca>Aca	p.A295T		NM_001005270.2	NP_001005270.1	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	295					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						TTCCTTATTGCACTTTTTACC	0.368000													13	51					0	0	0.435327	0	0
AMDHD1	144193	broad.mit.edu	37	12	96350688	96350688	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr12:96350688G>A	ENST00000266736.2	+	4	641	c.535G>A	c.(535-537)Gag>Aag	p.E179K		NM_152435.2	NP_689648.2	Q96NU7	HUTI_HUMAN	amidohydrolase domain containing 1	179					histidine catabolic process to glutamate and formamide	cytosol	imidazolonepropionase activity|metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						CGCCCGGCGGGAGCTGGACAT	0.602000													6	137					0	0	0.217242	0	0
LINC00922	283867	broad.mit.edu	37	16	65345315	65345315	+	RNA	SNP	A	A	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr16:65345315A>T	ENST00000569736.1	-	0	819				RP11-256I9.3_ENST00000562656.1_lincRNA	NR_027755.1																						GGAGGTACTCACCTTCGTGAG	0.403000													30	73					0	0	0.760397	0	0
GRIK3	2899	broad.mit.edu	37	1	37307529	37307529	+	Silent	SNP	G	G	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr1:37307529G>A	ENST00000373091.3	-	10	1354	c.1338C>T	c.(1336-1338)ttC>ttT	p.F446F	GRIK3_ENST00000373093.4_Silent_p.F446F	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	446					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	GAAACATGACGAAGGGCTCCT	0.577000													6	98					0	0	0.248553	0	0
MSH5-SAPCD1	100532732	broad.mit.edu	37	6	31727709	31727709	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr6:31727709C>A	ENST00000493662.2	+	18	1749	c.1693C>A	c.(1693-1695)Cgt>Agt	p.R565S	MSH5_ENST00000395853.1_Missense_Mutation_p.R222S|MSH5_ENST00000375703.3_Missense_Mutation_p.R548S|MSH5_ENST00000431848.2_Missense_Mutation_p.R247S|MSH5_ENST00000375755.3_Missense_Mutation_p.R548S|MSH5_ENST00000534153.4_Missense_Mutation_p.R565S|MSH5_ENST00000375742.3_Missense_Mutation_p.R565S|MSH5_ENST00000375750.3_Missense_Mutation_p.R548S|MSH5_ENST00000375740.3_Missense_Mutation_p.R565S																							CTCAAGGCCGCGTTACTCCCC	0.572000													34	59					4.31634e-10	5.21426e-10	0.760397	1	0
OR2L13	284521	broad.mit.edu	37	1	248263049	248263049	+	Silent	SNP	C	C	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr1:248263049C>A	ENST00000366478.2	+	3	709	c.372C>A	c.(370-372)gcC>gcA	p.A124A	OR2L13_ENST00000358120.2_Silent_p.A124A	NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	124					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			GTTATTTGGCCATCTGCCACT	0.502000													61	273					1.12357e-39	1.78799e-39	0.870114	1	0
PELI2	57161	broad.mit.edu	37	14	56746457	56746457	+	Missense_Mutation	SNP	G	G	A	rs151092148		TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr14:56746457G>A	ENST00000267460.4	+	3	557	c.271G>A	c.(271-273)Gtg>Atg	p.V91M		NM_021255.2	NP_067078.1	Q9HAT8	PELI2_HUMAN	pellino E3 ubiquitin protein ligase family member 2	91					innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	protein binding			kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	22						GACTGTGGTGGTGGAGTACAC	0.303000													38	63					0	0	0.853193	0	0
IGHV4OR15-8	28317	broad.mit.edu	37	15	22473040	22473040	+	RNA	SNP	G	G	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr15:22473040G>T	ENST00000557788.2	-	0	230																											GGTTGTAGTTGGGGCTCCCAC	0.582000													33	274					6.84511e-11	8.36064e-11	0.779181	1	0
INPP5J	27124	broad.mit.edu	37	22	31523954	31523954	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr22:31523954G>T	ENST00000331075.5	+	7	1854	c.1805G>T	c.(1804-1806)gGg>gTg	p.G602V	INPP5J_ENST00000405300.1_Missense_Mutation_p.G235V|INPP5J_ENST00000404453.1_5'UTR|INPP5J_ENST00000402238.1_5'UTR|INPP5J_ENST00000404390.3_Missense_Mutation_p.G234V|INPP5J_ENST00000412277.2_Missense_Mutation_p.G535V|INPP5J_ENST00000401755.1_5'UTR|INPP5J_ENST00000400294.2_Missense_Mutation_p.G235V			Q15735	PI5PA_HUMAN	inositol polyphosphate-5-phosphatase J	602	Catalytic (Potential).					cytoplasm|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|SH3 domain binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						TTCTGGTTCGGGGACCTGAAC	0.587000													12	28					4.3838e-07	4.9355e-07	0.435327	1	0
FAM86EP	348926	broad.mit.edu	37	4	3954857	3954857	+	RNA	SNP	C	C	A	rs17410899		TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr4:3954857C>A	ENST00000281228.8	-	0	141				FAM86EP_ENST00000313946.8_RNA																							AATATCCCGCCGCAGCTCAGA	0.488000													4	88					1.23904e-05	1.37165e-05	0.184627	1	0
C5orf20	140947	broad.mit.edu	37	5	134782574	134782574	+	Silent	SNP	G	G	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr5:134782574G>T	ENST00000503143.2	-	1	464	c.225C>A	c.(223-225)acC>acA	p.T75T	TIFAB_ENST00000537858.1_3'UTR	NM_130848.2	NP_570900.1	Q8TF63	DCNP1_HUMAN	chromosome 5 open reading frame 20	75			T -> P (in dbSNP:rs1031844).			nucleus				endometrium(1)|lung(1)|prostate(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CAGCTGGCAAGGTTTTGTTCC	0.602000													15	43					1.05317e-09	1.245e-09	0.457914	1	0
CETN1	1068	broad.mit.edu	37	18	580499	580499	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr18:580499C>A	ENST00000327228.3	+	1	133	c.91C>A	c.(91-93)Caa>Aaa	p.Q31K		NM_004066.1	NP_004057.1	Q12798	CETN1_HUMAN	centrin, EF-hand protein, 1	31	EF-hand 1.				cell division|mitosis	spindle pole	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2)	25						GGATCAGAAGCAAGAAGTTCG	0.597000													16	12					1.3612e-06	1.52216e-06	0.479597	1	0
RYR3	6263	broad.mit.edu	37	15	34145788	34145788	+	Silent	SNP	A	A	G			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr15:34145788A>G	ENST00000389232.4	+	96	13774	c.13704A>G	c.(13702-13704)gcA>gcG	p.A4568A	RYR3_ENST00000415757.3_Silent_p.A4563A|RYR3_ENST00000559917.1_3'UTR	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4568					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TCTACGGAGCAGAACGCATTG	0.488000													9	32					0	0	0.307466	0	0
SYNE2	23224	broad.mit.edu	37	14	64634322	64634322	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr14:64634322C>T	ENST00000357395.3	+	93	17169	c.6025C>T	c.(6025-6027)Ctt>Ttt	p.L2009F	SYNE2_ENST00000344113.4_Missense_Mutation_p.L5624F|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.L2009F|SYNE2_ENST00000358025.3_Missense_Mutation_p.L5624F|SYNE2_ENST00000555002.1_Missense_Mutation_p.L2258F|SYNE2_ENST00000554584.1_Missense_Mutation_p.L5499F			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5624					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GGCTAACAGCCTTCCTGAGCT	0.458000													18	44					0	0	0.539581	0	0
TRPC6	7225	broad.mit.edu	37	11	101375428	101375428	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr11:101375428C>G	ENST00000344327.3	-	2	696	c.272G>C	c.(271-273)cGc>cCc	p.R91P	TRPC6_ENST00000532133.1_Missense_Mutation_p.R91P|TRPC6_ENST00000348423.4_Missense_Mutation_p.R91P|TRPC6_ENST00000360497.4_Missense_Mutation_p.R91P	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	91					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		GCTTGTGGAGCGATCACTAAA	0.507000													33	108					0	0	0.804634	0	0
LCT	3938	broad.mit.edu	37	2	136562352	136562352	+	Silent	SNP	G	G	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr2:136562352G>A	ENST00000264162.2	-	10	4459	c.4449C>T	c.(4447-4449)gcC>gcT	p.A1483A		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1483	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		GCTGGATGCTGGCGGCCAGCA	0.562000													14	51					0	0	0.500413	0	0
CLPTM1	1209	broad.mit.edu	37	19	45488522	45488522	+	Silent	SNP	G	G	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr19:45488522G>T	ENST00000541297.2	+	6	1056	c.591G>T	c.(589-591)ctG>ctT	p.L197L	CLPTM1_ENST00000546079.1_Silent_p.L109L|CLPTM1_ENST00000337392.5_Silent_p.L211L|CLPTM1_ENST00000589158.1_3'UTR			O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1	211					cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		CCAAGAACCTGCTGACAGGAG	0.542000													9	10					3.86212e-05	4.24705e-05	0.361761	1	0
GRM5	2915	broad.mit.edu	37	11	88338066	88338066	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr11:88338066T>C	ENST00000418177.2	-	5	1581	c.1214A>G	c.(1213-1215)tAt>tGt	p.Y405C	GRM5_ENST00000305432.5_Missense_Mutation_p.Y405C|GRM5_ENST00000305447.4_Missense_Mutation_p.Y405C|GRM5_ENST00000455756.2_Missense_Mutation_p.Y405C|GRM5_ENST00000393297.1_Missense_Mutation_p.Y405C			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	405					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	GGCCATCGAATAGATGGCGTT	0.458000													12	59					0	0	0.387290	0	0
MVP	9961	broad.mit.edu	37	16	29848101	29848101	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr16:29848101G>T	ENST00000357402.5	+	7	869	c.731G>T	c.(730-732)cGc>cTc	p.R244L	MVP_ENST00000452209.2_Silent_p.P58P|MVP_ENST00000395353.1_Missense_Mutation_p.R244L	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	244					mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						GTGTCCCGCCGCACTGGGGAG	0.637000													21	29					1.22574e-08	1.42859e-08	0.624587	1	0
SCFD2	152579	broad.mit.edu	37	4	54231754	54231754	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr4:54231754G>C	ENST00000401642.3	-	1	488	c.355C>G	c.(355-357)Cca>Gca	p.P119A	SCFD2_ENST00000388940.4_Missense_Mutation_p.P119A	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	119					protein transport|vesicle docking involved in exocytosis					breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			GCCGCCGCTGGGACATGATTA	0.597000													21	26					0	0	0.608945	0	0
SNX7	51375	broad.mit.edu	37	1	99156702	99156702	+	Silent	SNP	G	G	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr1:99156702G>A	ENST00000370189.5	+	4	607	c.243G>A	c.(241-243)aaG>aaA	p.K81K	SNX7_ENST00000306121.3_Silent_p.K145K|SNX7_ENST00000529992.1_Silent_p.K145K			Q9UNH6	SNX7_HUMAN	sorting nexin 7	81	PX.				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	13		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)		Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234)		TTTGGTTGAAGGGAAAACTGG	0.368000													11	30					0	0	0.361761	0	0
FAM171B	165215	broad.mit.edu	37	2	187627263	187627263	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr2:187627263C>T	ENST00000304698.5	+	8	2397	c.2194C>T	c.(2194-2196)Cag>Tag	p.Q732*		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	732						integral to membrane	DNA binding			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						AAGCATGCATCAGCCCAAGAT	0.483000													5	85					0	0	0.184627	0	0
EIF2B3	8891	broad.mit.edu	37	1	45323445	45323445	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr1:45323445C>A	ENST00000360403.2	-	11	1363	c.1237G>T	c.(1237-1239)Gct>Tct	p.A413S		NM_001261418.1|NM_020365.4	NP_001248347.1|NP_065098.1	Q9NR50	EI2BG_HUMAN	eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa	413					negative regulation of translational initiation in response to stress|oligodendrocyte development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	nucleotidyltransferase activity|protein binding|translation initiation factor activity			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	17	Acute lymphoblastic leukemia(166;0.155)					TCGATCACAGCATTGTTGCAG	0.458000													52	60					6.56871e-35	1.03535e-34	0.870114	1	0
VIM	7431	broad.mit.edu	37	10	17275634	17275634	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr10:17275634G>T	ENST00000544301.1	+	4	1086	c.673G>T	c.(673-675)Gaa>Taa	p.E225*	VIM_ENST00000224237.5_Nonsense_Mutation_p.E225*|RP11-124N14.3_ENST00000456355.1_RNA	NM_003380.3	NP_003371.2	P08670	VIME_HUMAN	vimentin	225	Coil 1B.|Rod.				cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding	cytosol|intermediate filament	protein C-terminus binding|structural constituent of cytoskeleton			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ACGCAAAGTGGAATCTTTGCA	0.458000													30	38					4.74835e-14	6.21227e-14	0.750413	1	0
MTMR14	64419	broad.mit.edu	37	3	9730437	9730437	+	Splice_Site	SNP	G	G	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr3:9730437G>A	ENST00000296003.4	+	15	1415	c.1294_splice	c.e15+1	p.L431_splice	MTMR14_ENST00000351233.5_Splice_Site_p.L431_splice|MTMR14_ENST00000353332.5_Splice_Site_p.L431_splice|MTMR14_ENST00000420925.1_Splice_Site_p.L185_splice	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN	myotubularin related protein 14	431						perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					TCTGCATGCTGAGTGAGTCCT	0.498000													5	68					0	0	0.184627	0	0
NPY1R	4886	broad.mit.edu	37	4	164247218	164247218	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr4:164247218C>A	ENST00000296533.2	-	2	1020	c.489G>T	c.(487-489)tgG>tgT	p.W163C	NPY1R_ENST00000509586.1_Intron	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	163					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CAGCAAGGACCCAAATCACAG	0.438000													57	44					1.59911e-31	2.49673e-31	0.870114	1	0
CALCR	799	broad.mit.edu	37	7	93063564	93063564	+	Splice_Site	SNP	C	C	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr7:93063564C>A	ENST00000359558.2	-	15	1593		c.e15+1		CALCR_ENST00000360249.4_Splice_Site|CALCR_ENST00000394441.1_Splice_Site|CALCR_ENST00000421592.1_Splice_Site|CALCR_ENST00000426151.1_Splice_Site	NM_001164737.1	NP_001158209.1	P30988	CALCR_HUMAN	calcitonin receptor						activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	TGCATGCTTACCTCATTGTTG	0.358000													26	45					6.38683e-12	7.97751e-12	0.729181	1	0
SLC18A2	6571	broad.mit.edu	37	10	119013584	119013584	+	Silent	SNP	C	C	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr10:119013584C>A	ENST00000298472.5	+	5	692	c.549C>A	c.(547-549)gcC>gcA	p.A183A	SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	183					neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)	GCAGCTATGCCTTCCTGCTGA	0.597000													63	103					3.30712e-30	5.0445e-30	0.870114	1	0
KCNJ2	3759	broad.mit.edu	37	17	68171198	68171198	+	Silent	SNP	C	C	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr17:68171198C>A	ENST00000243457.3	+	2	401	c.18C>A	c.(16-18)acC>acA	p.T6T	KCNJ2_ENST00000535240.1_Silent_p.T6T	NM_000891.2	NP_000882.1	P63252	IRK2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	6					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					GTGTGCGAACCAACCGCTACA	0.493000													15	27					2.35188e-11	2.90475e-11	0.539581	1	0
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537000													5	63					0	0	0.184627	0	0
FRY	10129	broad.mit.edu	37	13	32745188	32745188	+	Silent	SNP	A	A	C			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr13:32745188A>C	ENST00000380250.3	+	18	2428	c.1932A>C	c.(1930-1932)gcA>gcC	p.A644A		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	644					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		GACATATTGCACAAAATTCTC	0.363000													41	85					0	0	0.853193	0	0
SLC39A6	25800	broad.mit.edu	37	18	33704551	33704551	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr18:33704551C>A	ENST00000269187.5	-	3	1115	c.902G>T	c.(901-903)aGa>aTa	p.R301I	SLC39A6_ENST00000590986.1_Missense_Mutation_p.R301I|SLC39A6_ENST00000440549.2_Missense_Mutation_p.R26I	NM_012319.3	NP_036451.3	Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter), member 6	301						integral to membrane|lamellipodium membrane	zinc ion transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	41						CAGACAAGATCTAGCATCAAT	0.383000													19	58					1.56452e-12	1.97656e-12	0.557998	1	0
ZFHX4	79776	broad.mit.edu	37	8	77766851	77766851	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr8:77766851C>A	ENST00000521891.2	+	10	8142	c.7694C>A	c.(7693-7695)tCc>tAc	p.S2565Y	ZFHX4_ENST00000518282.1_Missense_Mutation_p.S2539Y|ZFHX4_ENST00000455469.2_Missense_Mutation_p.S2520Y|ZFHX4_ENST00000050961.6_Missense_Mutation_p.S2520Y	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2520						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CAGGCCAGTTCCTCCCACACC	0.498000										HNSCC(33;0.089)			32	52					5.60225e-13	7.10477e-13	0.740014	1	0
NOX5	79400	broad.mit.edu	37	15	69339834	69339834	+	Missense_Mutation	SNP	G	G	A	rs145431252		TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr15:69339834G>A	ENST00000260364.5	+	13	2021	c.1720G>A	c.(1720-1722)Ggc>Agc	p.G574S	NOX5_ENST00000388866.3_Missense_Mutation_p.G592S|NOX5_ENST00000525163.1_3'UTR|NOX5_ENST00000530406.2_Missense_Mutation_p.G564S|NOX5_ENST00000455873.3_Missense_Mutation_p.G557S|NOX5_ENST00000448182.3_Missense_Mutation_p.G546S			Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	592	FAD-binding FR-type.				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						GGCAGGCATCGGCATCACCCC	0.602000													11	41					0	0	0.411799	0	0
PRSS38	339501	broad.mit.edu	37	1	228003938	228003938	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr1:228003938C>A	ENST00000366757.3	+	2	320	c.296C>A	c.(295-297)gCg>gAg	p.A99E		NM_183062.2	NP_898885.1	A1L453	PRS38_HUMAN	protease, serine, 38	99	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						CTGTCAGCTGCGCACTGCTTT	0.672000													49	102					1.30916e-28	1.96078e-28	0.870114	1	0
ZNF804A	91752	broad.mit.edu	37	2	185801006	185801006	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr2:185801006G>T	ENST00000302277.6	+	4	1477	c.883G>T	c.(883-885)Gag>Tag	p.E295*		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	295						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TCAAACTCAAGAGATAAAAGA	0.348000													38	34					1.36161e-19	1.95954e-19	0.796494	1	0
MCTP2	55784	broad.mit.edu	37	15	94841680	94841680	+	Silent	SNP	C	C	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr15:94841680C>T	ENST00000357742.4	+	1	186	c.186C>T	c.(184-186)gcC>gcT	p.A62A	MCTP2_ENST00000543482.1_Silent_p.A62A|MCTP2_ENST00000451018.3_Silent_p.A62A|MCTP2_ENST00000331706.4_5'UTR	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	62					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			AGGCCTTGGCCCCAGAGGGCC	0.607000													22	49					0	0	0.608945	0	0
PCDHB11	56125	broad.mit.edu	37	5	140580431	140580431	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr5:140580431G>C	ENST00000354757.3	+	1	1084	c.1084G>C	c.(1084-1086)Gag>Cag	p.E362Q	PCDHB11_ENST00000536699.1_5'UTR	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		362	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAATACGCCAGAGACCGTGGT	0.408000													38	79					0	0	0.804634	0	0
DLX2	1746	broad.mit.edu	37	2	172965613	172965613	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr2:172965613C>G	ENST00000234198.4	-	3	1006	c.645G>C	c.(643-645)gaG>gaC	p.E215D	DLX2_ENST00000466293.2_3'UTR	NM_004405.3	NP_004396.1	Q07687	DLX2_HUMAN	distal-less homeobox 2	215						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.216)			CCGAGGGGATCTCACCACTTT	0.577000													8	39					0	0	0.278610	0	0
PRC1	9055	broad.mit.edu	37	15	91512705	91512705	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr15:91512705G>T	ENST00000361188.5	-	13	2932	c.1721C>A	c.(1720-1722)tCt>tAt	p.S574Y	PRC1-AS1_ENST00000554388.1_RNA|PRC1_ENST00000442656.2_Intron|PRC1_ENST00000361919.3_Intron|PRC1_ENST00000394249.3_Missense_Mutation_p.S574Y|PRC1-AS1_ENST00000556200.1_RNA			O43663	PRC1_HUMAN	protein regulator of cytokinesis 1	574	Unstructured, Arg/Lys rich.				cytokinesis|mitotic spindle elongation	cytoplasm|nucleus|spindle microtubule|spindle pole	protein binding			endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25	Lung NSC(78;0.0987)|all_lung(78;0.175)					GCTGGCAACAGAATTAATGCT	0.542000													5	119					0.00116845	0.0012396	0.217242	1	0
PSD4	23550	broad.mit.edu	37	2	113955142	113955142	+	Splice_Site	SNP	G	G	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr2:113955142G>A	ENST00000245796.6	+	13	2583	c.2386_splice	c.e13-1	p.T796_splice	PSD4_ENST00000441564.2_Splice_Site_p.T768_splice	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	796	PH.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTGGAACAGCGCCATGGGGCA	0.547000													20	28					0	0	0.624587	0	0
ABCA13	154664	broad.mit.edu	37	7	48626780	48626780	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr7:48626780C>G	ENST00000435803.1	+	57	14560	c.14536C>G	c.(14536-14538)Ctc>Gtc	p.L4846V	ABCA13_ENST00000544596.1_Missense_Mutation_p.L576V	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4846	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			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						GCGCTTACACCTCGAAGCCCA	0.572000													12	11					0	0	0.387290	0	0
GADD45G	10912	broad.mit.edu	37	9	92220638	92220638	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr9:92220638A>G	ENST00000252506.6	+	3	321	c.212A>G	c.(211-213)gAc>gGc	p.D71G	GADD45G_ENST00000494726.1_Intron|GADD45G_ENST00000375769.1_Missense_Mutation_p.D53G	NM_006705.3	NP_006696.1	O95257	GA45G_HUMAN	growth arrest and DNA-damage-inducible, gamma	71					activation of MAPKKK activity|apoptosis|cell differentiation|DNA repair|multicellular organismal development		protein binding			lung(2)	2						GACGAGGGCGACATCGCGCTG	0.627000													18	21					0	0	0.575678	0	0
GABRA2	2555	broad.mit.edu	37	4	46252494	46252494	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr4:46252494G>A	ENST00000510861.1	-	10	1360	c.1187C>T	c.(1186-1188)cCc>cTc	p.P396L	GABRA2_ENST00000381620.4_Missense_Mutation_p.P396L|GABRA2_ENST00000507069.1_Missense_Mutation_p.P456L|GABRA2_ENST00000540012.1_Missense_Mutation_p.P401L|GABRA2_ENST00000514090.1_Missense_Mutation_p.P396L|GABRA2_ENST00000356504.1_Missense_Mutation_p.P396L			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	396					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CTTCTTGTTGGGTTCTGGCGT	0.428000													62	178					0	0	0.870114	0	0
NUF2	83540	broad.mit.edu	37	1	163315514	163315514	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr1:163315514G>T	ENST00000271452.3	+	11	1133	c.854G>T	c.(853-855)tGc>tTc	p.C285F	NUF2_ENST00000367900.3_Missense_Mutation_p.C285F|NUF2_ENST00000524800.1_Intron	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	285	Interaction with the N-terminus of NDC80.				cell division|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					TCAGTTGACTGCCTGCCTTCA	0.368000													33	77					1.22384e-17	1.70924e-17	0.769981	1	0
SYNE2	23224	broad.mit.edu	37	14	64634321	64634321	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr14:64634321C>A	ENST00000357395.3	+	93	17168	c.6024C>A	c.(6022-6024)agC>agA	p.S2008R	SYNE2_ENST00000344113.4_Missense_Mutation_p.S5623R|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.S2008R|SYNE2_ENST00000358025.3_Missense_Mutation_p.S5623R|SYNE2_ENST00000555002.1_Missense_Mutation_p.S2257R|SYNE2_ENST00000554584.1_Missense_Mutation_p.S5498R			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5623					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TGGCTAACAGCCTTCCTGAGC	0.458000													17	46					3.52763e-06	3.93147e-06	0.520397	1	0
CAMSAP1	157922	broad.mit.edu	37	9	138713787	138713787	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr9:138713787C>T	ENST00000389532.4	-	11	2784	c.2720G>A	c.(2719-2721)cGc>cAc	p.R907H	CAMSAP1_ENST00000312405.6_Missense_Mutation_p.R629H|CAMSAP1_ENST00000409386.3_Missense_Mutation_p.R918H|CAMSAP1_ENST00000483991.1_5'UTR	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	907						cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		GAGCTTCAGGCGCTGCCTTGC	0.617000													60	97					0	0	0.870114	0	0
FNIP1	96459	broad.mit.edu	37	5	131080266	131080266	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr5:131080266T>C	ENST00000514667.1	-	2	271	c.210A>G	c.(208-210)atA>atG	p.I70M	FNIP1_ENST00000307954.8_Missense_Mutation_p.I70M|FNIP1_ENST00000511848.1_Missense_Mutation_p.I70M|FNIP1_ENST00000510461.1_Missense_Mutation_p.I70M|FNIP1_ENST00000307968.7_Missense_Mutation_p.I70M					folliculin interacting protein 1											NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		CCGATACTGATATGTCCTCAT	0.368000													38	51					0	0	0.859065	0	0
CPED1	79974	broad.mit.edu	37	7	120780890	120780890	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr7:120780890C>A	ENST00000310396.5	+	15	2176	c.1709C>A	c.(1708-1710)aCa>aAa	p.T570K	CPED1_ENST00000423795.1_Missense_Mutation_p.T350K|CPED1_ENST00000450913.2_Missense_Mutation_p.T570K	NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1																		GATGAAAACACACCATGTCAT	0.303000													9	33					0.0477658	0.0487977	0.307466	1	0
IGLC2	3538	broad.mit.edu	37	22	23243367	23243367	+	RNA	SNP	T	T	C	rs8033	by1000genomes	TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr22:23243367T>C	ENST00000390323.2	+	0	212																											CCAGCAGCTATCTGAGCCTGA	0.587000													3	9					0	0	0.115264	0	0
STARD8	9754	broad.mit.edu	37	X	67937210	67937210	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chrX:67937210G>T	ENST00000252336.6	+	5	586	c.214G>T	c.(214-216)Gag>Tag	p.E72*	STARD8_ENST00000374599.3_Nonsense_Mutation_p.E152*|STARD8_ENST00000374597.3_Nonsense_Mutation_p.E72*	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	72					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						CGTCCTCACCGAGCTTAGTGC	0.642000													4	4					0.014758	0.0151235	0.184627	1	0
ING1	3621	broad.mit.edu	37	13	111372015	111372015	+	Silent	SNP	C	C	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr13:111372015C>T	ENST00000375774.3	+	2	1467	c.1005C>T	c.(1003-1005)gcC>gcT	p.A335A	ING1_ENST00000338450.7_Silent_p.A148A|ING1_ENST00000333219.7_Silent_p.A192A|ING1_ENST00000375775.3_Silent_p.A123A	NM_005537.4	NP_005528.3	Q9UK53	ING1_HUMAN	inhibitor of growth family, member 1	335			A -> D (in HNSCC).		cell cycle|negative regulation of cell growth|negative regulation of cell proliferation	nucleus	zinc ion binding			endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.188)			GCTCCAAGGCCAAGGCGGAGC	0.627000													21	34					0	0	0.592651	0	0
PLA2G4C	8605	broad.mit.edu	37	19	48602932	48602932	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr19:48602932C>A	ENST00000354276.3	-	5	770	c.443G>T	c.(442-444)aGa>aTa	p.R148I	PLA2G4C_ENST00000599921.1_Missense_Mutation_p.R148I|PLA2G4C_ENST00000413144.2_Missense_Mutation_p.R148I|PLA2G4C_ENST00000599111.1_Missense_Mutation_p.R158I	NM_001159323.1	NP_001152795.1	Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	148	PLA2c.		R -> G (in dbSNP:rs2307282).		arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		ACTTACTTCTCTGGTTTGCTT	0.522000													48	18					5.2432e-18	7.41667e-18	0.870114	1	0
NCKAP5	344148	broad.mit.edu	37	2	133636466	133636466	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr2:133636466C>G	ENST00000409261.1	-	9	976	c.603G>C	c.(601-603)ttG>ttC	p.L201F	NCKAP5_ENST00000317721.6_Missense_Mutation_p.L201F|NCKAP5_ENST00000409213.1_Missense_Mutation_p.L201F|NCKAP5_ENST00000405974.3_Missense_Mutation_p.L201F	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	201							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TTTCATTCTCCAAAGCCAACG	0.403000													18	51					0	0	0.539581	0	0
SNRPD3	6634	broad.mit.edu	37	22	24964112	24964112	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr22:24964112G>T	ENST00000215829.3	+	3	874	c.287G>T	c.(286-288)gGc>gTc	p.G96V	SNRPD3_ENST00000402849.1_Missense_Mutation_p.G96V	NM_001278656.1|NM_004175.3	NP_001265585.1|NP_004166.1	P62318	SMD3_HUMAN	small nuclear ribonucleoprotein D3 polypeptide 18kDa	96	Arg/Lys-rich (basic).				histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	enzyme binding|histone pre-mRNA DCP binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6						TCAGGGGCTGGCCGAGGAAAA	0.453000													26	40					1.77063e-15	2.39216e-15	0.693898	1	0
BMPER	168667	broad.mit.edu	37	7	34085917	34085917	+	Splice_Site	SNP	G	G	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr7:34085917G>T	ENST00000297161.2	+	8	950		c.e8-1		BMPER_ENST00000494786.1_Splice_Site|BMPER_ENST00000426693.1_Splice_Site	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator						blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						TCTTTTCTTAGGGAGGCAGGA	0.433000													28	112					2.12542e-12	2.66482e-12	0.706142	1	0
C1QA	712	broad.mit.edu	37	1	22965531	22965531	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr1:22965531delC	ENST00000374642.3	+	3	573	c.369delC	c.(367-369)aafs	p.N123fs	C1QA_ENST00000402322.1_Frame_Shift_Del_p.N123fs	NM_015991.2	NP_057075.1	P02745	C1QA_HUMAN	complement component 1, q subcomponent, A chain	123	C1q.				cell-cell signaling|complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				autonomic_ganglia(1)|liver(1)|lung(3)|skin(1)	6		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.41e-27)|Colorectal(126;1.52e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.63e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000541)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TTCGGCGGAACCCCCCAATGG	0.622													14	22	---	---	---	---					
MROH9	80133	broad.mit.edu	37	1	170940953	170940974	+	Frame_Shift_Del	DEL	AAGATCCCTCGATTGTAAAACA	AAGATCCCTCGATTGTAAAACA	-			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr1:170940953_170940974delAAGATCCCTCGATTGTAAAACA	ENST00000367759.4	+	8	699_720	c.545_566delAAGATCCCTCGATTGTAAAACA	c.(544-567)gafs	p.EDPSIVKQ182fs	MROH9_ENST00000367758.3_Frame_Shift_Del_p.EDPSIVKQ182fs	NM_001163629.1	NP_001157101.1			maestro heat-like repeat family member 9									p.S185L(2)|p.P184H(2)|p.S185S(1)									TGTTCCCATGAAGATCCCTCGATTGTAAAACAAGCATCATTG	0.432													68	283	---	---	---	---					
IL36G	56300	broad.mit.edu	37	2	113742558	113742558	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr2:113742558delC	ENST00000259205.4	+	5	511	c.442delC	c.(442-444)ccfs	p.P148fs	IL36G_ENST00000376489.2_Frame_Shift_Del_p.P113fs	NM_019618.2	NP_062564.1	Q9NZH8	IL36G_HUMAN	interleukin 36, gamma	148					cell-cell signaling	extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						GAGAGACCAGCCCATCATTCT	0.488													29	78	---	---	---	---					
ZNF148	7707	broad.mit.edu	37	3	124996612	124996612	+	Frame_Shift_Del	DEL	T	T	-			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr3:124996612delT	ENST00000360647.4	-	7	1110	c.625delA	c.(625-627)tafs	p.I209fs	ZNF148_ENST00000485866.1_Frame_Shift_Del_p.I209fs|ZNF148_ENST00000497929.1_5'UTR|ZNF148_ENST00000468369.1_Frame_Shift_Del_p.I17fs|ZNF148_ENST00000492394.1_Frame_Shift_Del_p.I209fs|ZNF148_ENST00000484491.1_Frame_Shift_Del_p.I209fs|ZNF148_ENST00000544464.1_Frame_Shift_Del_p.I4fs|SLC12A8_ENST00000423114.2_Frame_Shift_Del_p.S32fs	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	209					cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						TACTTCTGTATGAAACGCATG	0.338													21	43	---	---	---	---					
NDST4	64579	broad.mit.edu	37	4	115998015	115998016	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr4:115998015_115998016insT	ENST00000264363.2	-	2	855_856	c.177_178insA	c.(175-180)ccatagfs	p.*60fs		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	60	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		ATTGACCTATATGGTAGAATTT	0.416													25	58	---	---	---	---					
NSD1	64324	broad.mit.edu	37	5	176562850	176562850	+	Frame_Shift_Del	DEL	A	A	-			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr5:176562850delA	ENST00000439151.2	+	2	791	c.746delA	c.(745-747)gafs	p.E249fs	NSD1_ENST00000511258.1_Intron|NSD1_ENST00000347982.4_Intron|NSD1_ENST00000354179.4_Intron|NSD1_ENST00000361032.4_Frame_Shift_Del_p.E249fs	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	249					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GGCAGCAATGAAAAAGCAGCC	0.413			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			25	40	---	---	---	---					
FASTK	10922	broad.mit.edu	37	7	150774247	150774249	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr7:150774247_150774249delTGG	ENST00000297532.6	-	8	1443_1445	c.1366_1368delCCA	c.(1366-1368)del	p.P456del	FASTK_ENST00000353841.2_In_Frame_Del_p.P315del|FASTK_ENST00000540185.1_3'UTR|FASTK_ENST00000489884.1_5'UTR|FASTK_ENST00000482571.1_In_Frame_Del_p.P429del	NM_006712.4	NP_006703.1	Q14296	FASTK_HUMAN	Fas-activated serine/threonine kinase	456					apoptosis|induction of apoptosis by extracellular signals|regulation of RNA splicing		ATP binding|Fas-activated serine/threonine kinase activity|protein binding			lung(4)|stomach(2)	6			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138)		GGCAGGACCTTGGTGGGTATGGC	0.685													10	64	---	---	---	---					
DCAF4L2	138009	broad.mit.edu	37	8	88885101	88885101	+	Frame_Shift_Del	DEL	C	C	-	rs138379350		TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr8:88885101delC	ENST00000319675.3	-	1	1195	c.1099delG	c.(1099-1101)ccfs	p.A367fs		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	367										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						GAAGAGAAGGCCACACTGGGA	0.582													25	63	---	---	---	---					
FOLH1B	219595	broad.mit.edu	37	11	89385707	89385707	+	RNA	DEL	A	A	-			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr11:89385707delA	ENST00000532352.1	+	0	344							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						CCAGGATATGAAAATGTTTCG	0.308													43	50	---	---	---	---					
HERC2P9	440248	broad.mit.edu	37	15	28900331	28900332	+	RNA	DEL	AA	AA	-			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr15:28900331_28900332delAA	ENST00000528584.1	+	0	14					NR_036443.1																						actctgtctcaaaaaaaaaaaa	0.411													2	4	---	---	---	---					
SNX1	6642	broad.mit.edu	37	15	64426931	64426937	+	Frame_Shift_Del	DEL	GCGGGAG	GCGGGAG	-			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr15:64426931_64426937delGCGGGAG	ENST00000261889.5	+	12	1311_1317	c.1290_1296delGCGGGAG	c.(1288-1296)aafs	p.KRE430fs	SNX1_ENST00000559844.1_Frame_Shift_Del_p.KRE430fs|SNX1_ENST00000561026.1_Frame_Shift_Del_p.KRE365fs|SNX1_ENST00000560829.1_Frame_Shift_Del_p.KRE212fs|SNX1_ENST00000353874.4_Intron	NM_001242933.1|NM_003099.4	NP_001229862.1|NP_003090.2	Q13596	SNX1_HUMAN	sorting nexin 1	430	BAR.				cell communication|early endosome to Golgi transport|endocytosis|intracellular protein transport	early endosome membrane|Golgi apparatus	phosphatidylinositol binding|protein binding|protein transporter activity			breast(1)|endometrium(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						TGCAGAAGAAGCGGGAGGCCGAGGCTC	0.643													16	21	---	---	---	---					
ASXL3	80816	broad.mit.edu	37	18	31319308	31319308	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr18:31319308delC	ENST00000269197.5	+	11	1940	c.1940delC	c.(1939-1941)aafs	p.T648fs		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	648	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TCCCTTGAGACAACATTTTGT	0.443													16	25	---	---	---	---					
MUC16	94025	broad.mit.edu	37	19	9082881	9082881	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr19:9082881delG	ENST00000397910.4	-	1	9137	c.8934delC	c.(8932-8934)ccfs	p.P2978fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2979	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTCCTGAAGTGGGGACTCTGG	0.502													63	62	---	---	---	---					
EMP3	2014	broad.mit.edu	37	19	48833629	48833629	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr19:48833629delG	ENST00000270221.6	+	5	695	c.394delG	c.(394-396)ggfs	p.G133fs	EMP3_ENST00000597279.1_Frame_Shift_Del_p.G133fs|EMP3_ENST00000596315.1_Frame_Shift_Del_p.G64fs	NM_001425.2	NP_001416.1	P54852	EMP3_HUMAN	epithelial membrane protein 3	133					cell growth|negative regulation of cell proliferation	integral to membrane				lung(1)	1		all_epithelial(76;6.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.00989)|Prostate(7;0.0143)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146)		GCACCCGCGAGGGGGCAGCTT	0.622													43	34	---	---	---	---					
RRP1B	23076	broad.mit.edu	37	21	45113189	45113203	+	In_Frame_Del	DEL	CAGCTCACCCCTGGT	CAGCTCACCCCTGGT	-			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	g.chr21:45113189_45113203delCAGCTCACCCCTGGT	ENST00000340648.4	+	16	2319_2333	c.2202_2216delCAGCTCACCCCTGGT	c.(2200-2217)gcg>gc	p.ASSPLV734del		NM_015056.2	NP_055871.1	Q14684	RRP1B_HUMAN	ribosomal RNA processing 1B	734					rRNA processing	cytosol|nucleolus|preribosome, small subunit precursor	protein binding	p.V739E(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1)	21				STAD - Stomach adenocarcinoma(101;0.178)		GCTCACCTGCCAGCTCACCCCTGGTGGCCAAGAAG	0.586													7	17	---	---	---	---					
NUDT11	55190	broad.mit.edu	37	X	51239296	51239309	+	Translation_Start_Site	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-	rs78182391		TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	a3fb8d58-8cd9-41b8-b108-b5ca14a116a6	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)			5	4	---	---	---	---					
C1QA	712	broad.mit.edu	37	1	22965531	22965531	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr1:22965531delC	ENST00000374642.3	+	3	573	c.369delC	c.(367-369)aafs	p.N123fs	C1QA_ENST00000402322.1_Frame_Shift_Del_p.N123fs	NM_015991.2	NP_057075.1	P02745	C1QA_HUMAN	complement component 1, q subcomponent, A chain	123	C1q.				cell-cell signaling|complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				autonomic_ganglia(1)|liver(1)|lung(3)|skin(1)	6		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.41e-27)|Colorectal(126;1.52e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.63e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000541)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TTCGGCGGAACCCCCCAATGG	0.622													14	22	---	---	---	---					
MROH9	80133	broad.mit.edu	37	1	170940953	170940974	+	Frame_Shift_Del	DEL	AAGATCCCTCGATTGTAAAACA	AAGATCCCTCGATTGTAAAACA	-			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr1:170940953_170940974delAAGATCCCTCGATTGTAAAACA	ENST00000367759.4	+	8	699_720	c.545_566delAAGATCCCTCGATTGTAAAACA	c.(544-567)gafs	p.EDPSIVKQ182fs	MROH9_ENST00000367758.3_Frame_Shift_Del_p.EDPSIVKQ182fs	NM_001163629.1	NP_001157101.1			maestro heat-like repeat family member 9									p.S185L(2)|p.P184H(2)|p.S185S(1)									TGTTCCCATGAAGATCCCTCGATTGTAAAACAAGCATCATTG	0.432													68	283	---	---	---	---					
IL36G	56300	broad.mit.edu	37	2	113742558	113742558	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr2:113742558delC	ENST00000259205.4	+	5	511	c.442delC	c.(442-444)ccfs	p.P148fs	IL36G_ENST00000376489.2_Frame_Shift_Del_p.P113fs	NM_019618.2	NP_062564.1	Q9NZH8	IL36G_HUMAN	interleukin 36, gamma	148					cell-cell signaling	extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						GAGAGACCAGCCCATCATTCT	0.488													29	78	---	---	---	---					
ZNF148	7707	broad.mit.edu	37	3	124996612	124996612	+	Frame_Shift_Del	DEL	T	T	-			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr3:124996612delT	ENST00000360647.4	-	7	1110	c.625delA	c.(625-627)tafs	p.I209fs	ZNF148_ENST00000484491.1_Frame_Shift_Del_p.I209fs|ZNF148_ENST00000497929.1_5'UTR|SLC12A8_ENST00000423114.2_Frame_Shift_Del_p.S32fs|ZNF148_ENST00000544464.1_Frame_Shift_Del_p.I4fs|ZNF148_ENST00000492394.1_Frame_Shift_Del_p.I209fs|ZNF148_ENST00000485866.1_Frame_Shift_Del_p.I209fs|ZNF148_ENST00000468369.1_Frame_Shift_Del_p.I17fs	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	209					cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						TACTTCTGTATGAAACGCATG	0.338													21	43	---	---	---	---					
NDST4	64579	broad.mit.edu	37	4	115998015	115998016	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr4:115998015_115998016insT	ENST00000264363.2	-	2	855_856	c.177_178insA	c.(175-180)ccatagfs	p.*60fs		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	60	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		ATTGACCTATATGGTAGAATTT	0.416													25	58	---	---	---	---					
NSD1	64324	broad.mit.edu	37	5	176562850	176562850	+	Frame_Shift_Del	DEL	A	A	-			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr5:176562850delA	ENST00000439151.2	+	2	791	c.746delA	c.(745-747)gafs	p.E249fs	NSD1_ENST00000347982.4_Intron|NSD1_ENST00000354179.4_Intron|NSD1_ENST00000361032.4_Frame_Shift_Del_p.E249fs|NSD1_ENST00000511258.1_Intron	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	249					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GGCAGCAATGAAAAAGCAGCC	0.413			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			25	40	---	---	---	---					
FASTK	10922	broad.mit.edu	37	7	150774247	150774249	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr7:150774247_150774249delTGG	ENST00000297532.6	-	8	1443_1445	c.1366_1368delCCA	c.(1366-1368)del	p.P456del	FASTK_ENST00000482571.1_In_Frame_Del_p.P429del|FASTK_ENST00000353841.2_In_Frame_Del_p.P315del|FASTK_ENST00000540185.1_3'UTR|FASTK_ENST00000489884.1_5'UTR	NM_006712.4	NP_006703.1	Q14296	FASTK_HUMAN	Fas-activated serine/threonine kinase	456					apoptosis|induction of apoptosis by extracellular signals|regulation of RNA splicing		ATP binding|Fas-activated serine/threonine kinase activity|protein binding			lung(4)|stomach(2)	6			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138)		GGCAGGACCTTGGTGGGTATGGC	0.685													10	64	---	---	---	---					
DCAF4L2	138009	broad.mit.edu	37	8	88885101	88885101	+	Frame_Shift_Del	DEL	C	C	-	rs138379350		TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr8:88885101delC	ENST00000319675.3	-	1	1195	c.1099delG	c.(1099-1101)ccfs	p.A367fs		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	367										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						GAAGAGAAGGCCACACTGGGA	0.582													25	63	---	---	---	---					
FOLH1B	219595	broad.mit.edu	37	11	89385707	89385707	+	RNA	DEL	A	A	-			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr11:89385707delA	ENST00000532352.1	+	0	344							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						CCAGGATATGAAAATGTTTCG	0.308													43	50	---	---	---	---					
SNX1	6642	broad.mit.edu	37	15	64426931	64426937	+	Frame_Shift_Del	DEL	GCGGGAG	GCGGGAG	-			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr15:64426931_64426937delGCGGGAG	ENST00000261889.5	+	12	1311_1317	c.1290_1296delGCGGGAG	c.(1288-1296)aafs	p.KRE430fs	SNX1_ENST00000353874.4_Intron|SNX1_ENST00000560829.1_Frame_Shift_Del_p.KRE212fs|SNX1_ENST00000561026.1_Frame_Shift_Del_p.KRE365fs|SNX1_ENST00000559844.1_Frame_Shift_Del_p.KRE430fs	NM_001242933.1|NM_003099.4	NP_001229862.1|NP_003090.2	Q13596	SNX1_HUMAN	sorting nexin 1	430	BAR.				cell communication|early endosome to Golgi transport|endocytosis|intracellular protein transport	early endosome membrane|Golgi apparatus	phosphatidylinositol binding|protein binding|protein transporter activity			breast(1)|endometrium(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						TGCAGAAGAAGCGGGAGGCCGAGGCTC	0.643													16	21	---	---	---	---					
NPIPB1P	729602	broad.mit.edu	37	18	11621200	11621200	+	RNA	DEL	G	G	-			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr18:11621200delG	ENST00000547442.1	-	0	718																											CAGAGCTGTAGGGAGAAAAAT	0.507													62	83	---	---	---	---					
ASXL3	80816	broad.mit.edu	37	18	31319308	31319308	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr18:31319308delC	ENST00000269197.5	+	11	1940	c.1940delC	c.(1939-1941)aafs	p.T648fs		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	648	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TCCCTTGAGACAACATTTTGT	0.443													16	25	---	---	---	---					
MUC16	94025	broad.mit.edu	37	19	9082881	9082881	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr19:9082881delG	ENST00000397910.4	-	1	9137	c.8934delC	c.(8932-8934)ccfs	p.P2978fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2979	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTCCTGAAGTGGGGACTCTGG	0.502													63	62	---	---	---	---					
EMP3	2014	broad.mit.edu	37	19	48833629	48833629	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr19:48833629delG	ENST00000270221.6	+	5	695	c.394delG	c.(394-396)ggfs	p.G133fs	EMP3_ENST00000597279.1_Frame_Shift_Del_p.G133fs|EMP3_ENST00000596315.1_Frame_Shift_Del_p.G64fs	NM_001425.2	NP_001416.1	P54852	EMP3_HUMAN	epithelial membrane protein 3	133					cell growth|negative regulation of cell proliferation	integral to membrane				lung(1)	1		all_epithelial(76;6.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.00989)|Prostate(7;0.0143)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146)		GCACCCGCGAGGGGGCAGCTT	0.622													43	34	---	---	---	---					
RRP1B	23076	broad.mit.edu	37	21	45113189	45113203	+	In_Frame_Del	DEL	CAGCTCACCCCTGGT	CAGCTCACCCCTGGT	-			TCGA-44-7671-01A-11D-2063-08	TCGA-44-7671-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9e5a202-125b-4fd6-866e-78c1cf41a9f1	b03fbfc0-1f50-41be-8f85-5d2a32ae7230	g.chr21:45113189_45113203delCAGCTCACCCCTGGT	ENST00000340648.4	+	16	2319_2333	c.2202_2216delCAGCTCACCCCTGGT	c.(2200-2217)gcg>gc	p.ASSPLV734del		NM_015056.2	NP_055871.1	Q14684	RRP1B_HUMAN	ribosomal RNA processing 1B	734					rRNA processing	cytosol|nucleolus|preribosome, small subunit precursor	protein binding	p.V739E(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1)	21				STAD - Stomach adenocarcinoma(101;0.178)		GCTCACCTGCCAGCTCACCCCTGGTGGCCAAGAAG	0.586													7	17	---	---	---	---					
