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
EIF2AK4	440275	broad.mit.edu	37	15	40300312	40300312	+	Silent	SNP	C	C	G			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr15:40300312C>G	ENST00000263791.5	+	25	3535	c.3492C>G	c.(3490-3492)gtC>gtG	p.V1164V	EIF2AK4_ENST00000559311.1_3'UTR|EIF2AK4_ENST00000382727.2_Silent_p.V1136V	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	1164	Histidyl-tRNA synthetase-like.				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		TTGATATTGTCACTTCTACCA	0.428000													60	106					0	0	0.000781405	0	0
SSPO	23145	broad.mit.edu	37	7	149486750	149486750	+	RNA	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr7:149486750C>T	ENST00000378016.2	+	0	4524							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGGGGGCCATCCAGCTGTGTG	0.652000													6	5					0	0	0.00116845	0	0
MED12	9968	broad.mit.edu	37	X	70338619	70338619	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:70338619G>A	ENST00000333646.6	+	1	214	c.15G>A	c.(13-15)ggG>ggA	p.G5G	MED12_ENST00000374102.1_Silent_p.G5G|MED12_ENST00000374080.3_Silent_p.G5G	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	5					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					CGGCCTTCGGGATCTTGAGCT	0.667000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						9	5					0	0	0.000673444	0	0
ZNF317	57693	broad.mit.edu	37	19	9269503	9269503	+	Splice_Site	SNP	T	T	G			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:9269503T>G	ENST00000247956.6	+	6	692	c.385_splice	c.e6-1	p.D129_splice	ZNF317_ENST00000360385.3_Splice_Site_p.D97_splice	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	129					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						TTGTTTCAGATTGGGAGACTC	0.413000													16	28					0	0	0.000958276	0	0
ZNF813	126017	broad.mit.edu	37	19	53995275	53995275	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:53995275C>T	ENST00000396403.4	+	4	1917	c.1789C>T	c.(1789-1791)Cat>Tat	p.H597Y	ZNF813_ENST00000396421.4_Intron	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	597					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		CCTTGCACGTCATCATAGACT	0.378000													11	11					0	0	0.000978159	0	0
USP16	10600	broad.mit.edu	37	21	30419289	30419289	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr21:30419289C>T	ENST00000334352.4	+	15	1889	c.1658C>T	c.(1657-1659)cCc>cTc	p.P553L	USP16_ENST00000399976.2_Missense_Mutation_p.P553L|USP16_ENST00000535828.1_Missense_Mutation_p.P182L|USP16_ENST00000399975.3_Missense_Mutation_p.P552L	NM_001032410.1	NP_001027582.1	Q9Y5T5	UBP16_HUMAN	ubiquitin specific peptidase 16	553					cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2)	34						ACATCTTCTCCCACTAGGAAT	0.363000													22	30					0	0	0.000229342	0	0
GLCCI1	113263	broad.mit.edu	37	7	8125850	8125850	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr7:8125850C>T	ENST00000223145.5	+	8	1883	c.1326C>T	c.(1324-1326)ctC>ctT	p.L442L		NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	442										endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		CGGCCCCTCTCTTTTCATGTC	0.393000													64	222					0	0	0.000781405	0	0
MAP3K19	80122	broad.mit.edu	37	2	135744273	135744273	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:135744273C>T	ENST00000375845.3	-	7	2199	c.2169G>A	c.(2167-2169)atG>atA	p.M723I	MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000358371.4_Missense_Mutation_p.M610I|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000392915.1_Missense_Mutation_p.M740I|MAP3K19_ENST00000375844.3_Intron	NM_025052.3	NP_079328.3			mitogen-activated protein kinase kinase kinase 19																		TTGGGCATTTCATATGTGTTT	0.388000													54	79					0	0	0.000781405	0	0
DMRT2	10655	broad.mit.edu	37	9	1051680	1051680	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr9:1051680G>A	ENST00000259622.6	+	1	67	c.67G>A	c.(67-69)Gaa>Aaa	p.E23K	DMRT2_ENST00000382255.3_Missense_Mutation_p.E23K|DMRT2_ENST00000412350.2_Missense_Mutation_p.E23K|DMRT2_ENST00000302441.6_Missense_Mutation_p.E23K|DMRT2_ENST00000358146.2_Missense_Mutation_p.E23K|DMRT2_ENST00000382251.3_Missense_Mutation_p.E23K			Q9Y5R5	DMRT2_HUMAN	doublesex and mab-3 related transcription factor 2	23					male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(1)|prostate(2)	4		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)		CCTGGAGCTGGAAGAGGACGT	0.756000													7	0					0	0	8.12818e-05	0	0
RNF145	153830	broad.mit.edu	37	5	158634789	158634789	+	Missense_Mutation	SNP	T	T	C	rs79352335		TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:158634789T>C	ENST00000274542.2	-	1	45	c.19A>G	c.(19-21)Att>Gtt	p.I7V	RNF145_ENST00000519865.1_Intron|RNF145_ENST00000521606.2_Intron|RNF145_ENST00000424310.2_Intron|RNF145_ENST00000518802.1_Intron	NM_144726.2	NP_653327.1	Q96MT1	RN145_HUMAN	ring finger protein 145	0						integral to membrane	zinc ion binding			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTACTAGCAATTCTGTGGTTT	0.418000													97	178					0	0	0.000781405	0	0
ASTN1	460	broad.mit.edu	37	1	176927571	176927571	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:176927571C>T	ENST00000367654.2	-	10	1683	c.1670G>A	c.(1669-1671)aGc>aAc	p.S557N	ASTN1_ENST00000367657.3_Missense_Mutation_p.S549N|ASTN1_ENST00000424564.2_Missense_Mutation_p.S549N|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Missense_Mutation_p.S549N			O14525	ASTN1_HUMAN	astrotactin 1	557					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						AATCACAAAGCTCTTGCTGAG	0.562000													6	15					0	0	0.00116845	0	0
BAI1	575	broad.mit.edu	37	8	143570778	143570778	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr8:143570778C>T	ENST00000517894.1	+	16	3504	c.2610C>T	c.(2608-2610)atC>atT	p.I870I	BAI1_ENST00000323289.5_Silent_p.I870I			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	870					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding	p.I870I(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CCTTGGAGATCGAGTTTGCCC	0.567000													34	42					0	0	0.00148497	0	0
FAT2	2196	broad.mit.edu	37	5	150885259	150885259	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:150885259C>T	ENST00000261800.5	-	23	12929	c.12917G>A	c.(12916-12918)gGg>gAg	p.G4306E		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	4306					epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATAAGAGGGCCCAGCTCGGCT	0.672000													9	23					0	0	0.000442599	0	0
RYR1	6261	broad.mit.edu	37	19	39008218	39008218	+	Missense_Mutation	SNP	C	C	T	rs139289204		TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:39008218C>T	ENST00000355481.4	+	66	10036	c.9905C>T	c.(9904-9906)cCa>cTa	p.P3302L	RYR1_ENST00000359596.3_Missense_Mutation_p.P3302L|RYR1_ENST00000360985.3_Missense_Mutation_p.P3302L	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3302					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.P3302Q(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GGCGCCCCCCCACCCTGCACA	0.652000													16	24					0	0	0.000958276	0	0
LILRB1	10859	broad.mit.edu	37	19	55143137	55143137	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:55143137C>T	ENST00000396331.1	+	5	614	c.257C>T	c.(256-258)cCa>cTa	p.P86L	LILRB1_ENST00000448689.1_Missense_Mutation_p.P86L|LILRB1_ENST00000396332.4_Missense_Mutation_p.P86L|LILRB1_ENST00000396327.3_Missense_Mutation_p.P86L|LILRB1_ENST00000396315.1_Missense_Mutation_p.P86L|LILRB1_ENST00000418536.2_Missense_Mutation_p.P86L|LILRB1_ENST00000396317.1_Missense_Mutation_p.P86L|LILRB1_ENST00000324602.7_Missense_Mutation_p.P86L|LILRB1_ENST00000427581.2_Missense_Mutation_p.P122L|LILRB1_ENST00000396321.2_Missense_Mutation_p.P86L|LILRB1_ENST00000434867.2_Missense_Mutation_p.P86L	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	86	Ig-like C2-type 1.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		TTCCCCATCCCATCCATCACC	0.552000										HNSCC(37;0.09)			25	40					0	0	0.000720815	0	0
YTHDC2	64848	broad.mit.edu	37	5	112896808	112896808	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:112896808C>T	ENST00000161863.4	+	18	2461	c.2248C>T	c.(2248-2250)Cgt>Tgt	p.R750C		NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	750	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		AATTTGTTTTCGTCTGTTCAG	0.353000													9	33					0	0	0.000673444	0	0
GPR153	387509	broad.mit.edu	37	1	6314057	6314057	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:6314057G>A	ENST00000377893.2	-	3	766	c.507C>T	c.(505-507)ggC>ggT	p.G169G		NM_207370.2	NP_997253.2	Q6NV75	GP153_HUMAN	G protein-coupled receptor 153	169						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|liver(1)|lung(7)|skin(1)	14	Ovarian(185;0.0634)	all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246)		CAAAGCCCAGGCCGATCTCAG	0.662000													5	13					0	0	0.000602214	0	0
RCOR1	23186	broad.mit.edu	37	14	103173840	103173840	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr14:103173840C>T	ENST00000262241.6	+	5	877	c.651C>T	c.(649-651)atC>atT	p.I217I	RCOR1_ENST00000570597.1_Silent_p.I214I	NM_015156.3	NP_055971.2	Q9UKL0	RCOR1_HUMAN	REST corepressor 1	214	Interaction with HDAC1.|SANT 1.				blood coagulation|histone H4 deacetylation|interspecies interaction between organisms	transcriptional repressor complex	protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						TTCATAGAATCCAACAAATGG	0.368000													29	63					0	0	0.001512	0	0
SACS	26278	broad.mit.edu	37	13	23907016	23907016	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr13:23907016G>A	ENST00000382298.3	-	10	11587	c.10999C>T	c.(10999-11001)Cat>Tat	p.H3667Y	SACS_ENST00000382292.3_Missense_Mutation_p.H3667Y|SACS_ENST00000402364.1_Missense_Mutation_p.H2917Y	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	3667					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TATTGAGGATGAAATCTAATG	0.383000													22	40					0	0	0.000295444	0	0
WDR65	149465	broad.mit.edu	37	1	43663223	43663223	+	Splice_Site	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:43663223G>A	ENST00000372492.4	+	7	1446		c.e7-1		WDR65_ENST00000528956.1_Splice_Site	NM_001195831.2	NP_001182760.2	Q96MR6	WDR65_HUMAN	WD repeat domain 65											NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GATTTCTCTAGGGGGAGCCTG	0.483000													56	76					0	0	0.000781405	0	0
CXXC11	285093	broad.mit.edu	37	2	242814229	242814229	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:242814229G>A	ENST00000343216.3	+	2	550	c.522G>A	c.(520-522)acG>acA	p.T174T		NM_173821.2	NP_776182.2	Q14D33	CB085_HUMAN	CXXC finger protein 11	174						integral to membrane											TCCCCGCCACGGCCTGGGGTG	0.677000													8	7					0	0	0.000978159	0	0
NFASC	23114	broad.mit.edu	37	1	204945813	204945813	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:204945813A>T	ENST00000367172.4	+	16	2049	c.1721A>T	c.(1720-1722)gAc>gTc	p.D574V	NFASC_ENST00000338586.6_Missense_Mutation_p.D574V|NFASC_ENST00000360049.4_Missense_Mutation_p.D585V|NFASC_ENST00000404076.1_Missense_Mutation_p.D568V|NFASC_ENST00000367170.4_Missense_Mutation_p.D574V|NFASC_ENST00000367171.4_Missense_Mutation_p.D574V|NFASC_ENST00000401399.1_Missense_Mutation_p.D574V|NFASC_ENST00000338515.6_Missense_Mutation_p.D574V|NFASC_ENST00000513543.1_Missense_Mutation_p.D585V|NFASC_ENST00000367169.4_Missense_Mutation_p.D574V|NFASC_ENST00000403080.1_Missense_Mutation_p.D574V|NFASC_ENST00000339876.6_Missense_Mutation_p.D574V|NFASC_ENST00000404907.1_Missense_Mutation_p.D585V|NFASC_ENST00000539706.1_Missense_Mutation_p.D585V			O94856	NFASC_HUMAN	neurofascin	574	Ig-like C2-type 6.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			AAGAAGGAAGACGACTCCCTG	0.602000													41	119					0	0	0.00170553	0	0
SHC4	399694	broad.mit.edu	37	15	49176514	49176514	+	Silent	SNP	A	A	G			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr15:49176514A>G	ENST00000332408.4	-	4	1199	c.771T>C	c.(769-771)ttT>ttC	p.F257F		NM_203349.3	NP_976224.3	Q6S5L8	SHC4_HUMAN	SHC (Src homology 2 domain containing) family, member 4	257	PID.				intracellular signal transduction	cell junction|postsynaptic membrane				breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	29		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)		TCATTCCTGAAAACTGAAGAT	0.323000													29	52					0	0	0.000339439	0	0
PHACTR2	9749	broad.mit.edu	37	6	144070141	144070141	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:144070141C>T	ENST00000427704.2	+	3	331	c.201C>T	c.(199-201)tcC>tcT	p.S67S	PHACTR2_ENST00000305766.6_Silent_p.S67S|PHACTR2_ENST00000440869.2_Silent_p.S78S|PHACTR2_ENST00000397980.3_Silent_p.S78S|PHACTR2_ENST00000367584.4_Silent_p.S135S|PHACTR2_ENST00000367582.3_Silent_p.S78S	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2	67							actin binding|protein phosphatase inhibitor activity			NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		GGAAGATATCCACACGACAAA	0.333000													10	20					0	0	0.000673444	0	0
RNF168	165918	broad.mit.edu	37	3	196215511	196215511	+	Silent	SNP	T	T	C			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:196215511T>C	ENST00000318037.3	-	2	939	c.345A>G	c.(343-345)gaA>gaG	p.E115E		NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	ring finger protein 168, E3 ubiquitin protein ligase	115	Glu-rich.				double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		CTCTTCTCAGTTCCCCAGGTT	0.318000													22	42					0	0	0.000878237	0	0
TRIM24	8805	broad.mit.edu	37	7	138262304	138262304	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr7:138262304G>A	ENST00000343526.4	+	14	2442	c.2227G>A	c.(2227-2229)Gaa>Aaa	p.E743K	TRIM24_ENST00000415680.2_Missense_Mutation_p.E709K			O15164	TIF1A_HUMAN	tripartite motif containing 24	743					cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						AGTGAAGCAAGAATCAGATGA	0.393000													16	90					0	0	0.000958276	0	0
ERN2	10595	broad.mit.edu	37	16	23718180	23718180	+	Missense_Mutation	SNP	G	G	A	rs148177655	byFrequency	TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr16:23718180G>A	ENST00000256797.4	-	6	694	c.526C>T	c.(526-528)Cgg>Tgg	p.R176W	ERN2_ENST00000457008.2_Missense_Mutation_p.R128W	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2	128					apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		TCCTGCTTCCGGCCTGTGGAG	0.592000													21	21					0	0	0.00121646	0	0
SDC3	9672	broad.mit.edu	37	1	31347418	31347418	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:31347418G>A	ENST00000336798.7	-	2	2206	c.714C>T	c.(712-714)acC>acT	p.T238T	SDC3_ENST00000339394.6_Silent_p.T296T			O75056	SDC3_HUMAN	syndecan 3	296	Ser/Thr-rich (mucin-like).					integral to membrane	cytoskeletal protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)		STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649)		TGGTCAGGAAGGTCTCTGGAG	0.602000													16	54					0	0	0.000422831	0	0
TAF1L	138474	broad.mit.edu	37	9	32632764	32632764	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr9:32632764G>A	ENST00000242310.4	-	1	2903	c.2814C>T	c.(2812-2814)ttC>ttT	p.F938F		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	938					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TCTTCATCTGGAAATCTTCCT	0.468000													31	15					0	0	0.000409698	0	0
GLP1R	2740	broad.mit.edu	37	6	39040774	39040774	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:39040774G>A	ENST00000373256.4	+	6	689	c.646G>A	c.(646-648)Ggg>Agg	p.G216R		NM_002062.3	NP_002053.3	P43220	GLP1R_HUMAN	glucagon-like peptide 1 receptor	216					activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	glucagon receptor activity|peptide receptor activity, G-protein coupled			breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31					Exenatide(DB01276)|Glucagon recombinant(DB00040)	CCAGTGGGATGGGCTCCTCTC	0.617000													14	35					0	0	0.00074312	0	0
ANKH	56172	broad.mit.edu	37	5	14769104	14769104	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:14769104G>A	ENST00000284268.6	-	2	623	c.293C>T	c.(292-294)gCc>gTc	p.A98V		NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator	98					locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						GTGAAAGACGGCAGCGATGGC	0.483000													29	40					0	0	0.000409698	0	0
PCDHGA11	56105	broad.mit.edu	37	5	140803134	140803134	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:140803134C>T	ENST00000398587.2	+	1	2373	c.2340C>T	c.(2338-2340)ctC>ctT	p.L780L	PCDHGB3_ENST00000576222.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1														breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGACACGCTCATCAGCCAGG	0.502000													15	31					0	0	0.000308642	0	0
RP11-146E13.4	0	broad.mit.edu	37	14	19856931	19856931	+	RNA	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr14:19856931C>T	ENST00000548109.1	+	0	72																											AACACTTTTTCATAGAATGGC	0.408000													7	38					0	0	0.000157383	0	0
EIF5B	9669	broad.mit.edu	37	2	99977974	99977974	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:99977974C>T	ENST00000289371.5	+	4	812	c.610C>T	c.(610-612)Cag>Tag	p.Q204*		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	204					regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GAAAAAAAATCAGAAAAACAA	0.358000													10	26					0	0	0.000978159	0	0
KCNH7	90134	broad.mit.edu	37	2	163393558	163393558	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:163393558G>A	ENST00000332142.5	-	3	439	c.340C>T	c.(340-342)Cca>Tca	p.P114S	KCNH7_ENST00000328032.4_Missense_Mutation_p.P114S	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	114	PAC.				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	TTTTTCACTGGAATTATGTGA	0.353000													33	55					0	0	0.000814825	0	0
FMN2	56776	broad.mit.edu	37	1	240351539	240351539	+	Nonsense_Mutation	SNP	A	A	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:240351539A>T	ENST00000319653.9	+	4	2193	c.1963A>T	c.(1963-1965)Aaa>Taa	p.K655*		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	655					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			AACTCCCCAAAAACGCTCAGA	0.373000													17	71					0	0	0.000958276	0	0
CSNK1A1L	122011	broad.mit.edu	37	13	37679361	37679361	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr13:37679361G>A	ENST00000379800.3	-	1	442	c.33C>T	c.(31-33)ctC>ctT	p.L11L		NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like	11					Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		CTCCCACAACGAGTTCGGCTT	0.592000													38	46					0	0	0.000781405	0	0
COL5A2	1290	broad.mit.edu	37	2	189904289	189904289	+	Splice_Site	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:189904289C>T	ENST00000374866.3	-	51	3908	c.3633_splice	c.e51-1	p.G1212_splice		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1212					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CCAGGAGGGCCCTAATTAAAA	0.483000													13	33					0	0	0.000151284	0	0
ZNF317	57693	broad.mit.edu	37	19	9270855	9270855	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:9270855C>T	ENST00000247956.6	+	7	839	c.534C>T	c.(532-534)gaC>gaT	p.D178D	ZNF317_ENST00000360385.3_Silent_p.D146D	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	178					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						TTGGCATGGACCCTCATCTCA	0.552000													13	22					0	0	0.000151284	0	0
CPLX4	339302	broad.mit.edu	37	18	56985680	56985680	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr18:56985680C>T	ENST00000299721.3	-	1	201	c.15G>A	c.(13-15)atG>atA	p.M5I	CPLX4_ENST00000587244.1_Missense_Mutation_p.M5I	NM_181654.3	NP_857637.1	Q7Z7G2	CPLX4_HUMAN	complexin 4	5					exocytosis|neurotransmitter transport	cell junction|synapse	syntaxin binding			autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	16		Colorectal(73;0.175)				TCATACTTTTCATAAGGAAAG	0.368000													15	28					0	0	0.000219431	0	0
LILRA1	11024	broad.mit.edu	37	19	55107840	55107840	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:55107840T>G	ENST00000251372.3	+	7	1327	c.1145T>G	c.(1144-1146)tTc>tGc	p.F382C	LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRA1_ENST00000453777.1_Intron|LILRB1_ENST00000396321.2_Intron	NM_006863.1	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	382	Ig-like C2-type 4.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		CAGGCTGAATTCCCTATGAGT	0.582000													28	79					0	0	0.001512	0	0
PARS2	25973	broad.mit.edu	37	1	55223545	55223545	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:55223545G>A	ENST00000371279.3	-	2	1372	c.1290C>T	c.(1288-1290)taC>taT	p.Y430Y		NM_152268.3	NP_689481.2	Q7L3T8	SYPM_HUMAN	prolyl-tRNA synthetase 2, mitochondrial (putative)	430					prolyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|proline-tRNA ligase activity			breast(1)|endometrium(3)|kidney(2)|lung(4)|ovary(2)|prostate(2)|skin(1)	15					L-Proline(DB00172)	TCACAAAGGGGTAGCCAAACT	0.547000													31	68					0	0	0.00178596	0	0
SLC4A8	9498	broad.mit.edu	37	12	51851149	51851149	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:51851149C>T	ENST00000453097.2	+	6	806	c.589C>T	c.(589-591)Cag>Tag	p.Q197*	SLC4A8_ENST00000394856.1_Nonsense_Mutation_p.Q144*|SLC4A8_ENST00000535225.2_Nonsense_Mutation_p.Q144*|SLC4A8_ENST00000358657.3_Nonsense_Mutation_p.Q224*|SLC4A8_ENST00000514353.3_Nonsense_Mutation_p.Q144*	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 8	197					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		GATCCTGGATCAGCAAGAACT	0.473000													25	30					0	0	0.00106085	0	0
OR2M2	391194	broad.mit.edu	37	1	248343365	248343365	+	Silent	SNP	C	C	T	rs149789397		TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:248343365C>T	ENST00000359682.2	+	1	78	c.78C>T	c.(76-78)ttC>ttT	p.F26F		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F26F(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	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;0.0245)			CACACACGTTCCTCTTCTTTC	0.493000													69	181					0	0	0.000781405	0	0
LRFN2	57497	broad.mit.edu	37	6	40400449	40400449	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:40400449T>A	ENST00000338305.6	-	2	946	c.404A>T	c.(403-405)cAg>cTg	p.Q135L		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	135						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					GCCGCCCAGCTGGTTGTTGTT	0.597000													16	20					0	0	0.000422831	0	0
MUC16	94025	broad.mit.edu	37	19	9086190	9086190	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:9086190C>T	ENST00000397910.4	-	1	5828	c.5625G>A	c.(5623-5625)ttG>ttA	p.L1875L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1875	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						AGCCGTTTTCCAATCTGGAGG	0.493000													9	19					0	0	0.000274275	0	0
GJA8	2703	broad.mit.edu	37	1	147380300	147380300	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:147380300C>T	ENST00000240986.4	+	2	271	c.218C>T	c.(217-219)tCc>tTc	p.S73F	GJA8_ENST00000369235.1_Missense_Mutation_p.S73F	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	73					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					TTTCCCATCTCCCACATTCGC	0.622000													15	34					0	0	0.000422831	0	0
ARRB2	409	broad.mit.edu	37	17	4621234	4621234	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr17:4621234C>T	ENST00000269260.2	+	8	770	c.537C>T	c.(535-537)ccC>ccT	p.P179P	ARRB2_ENST00000575877.1_Silent_p.P179P|ARRB2_ENST00000381488.6_Silent_p.P164P|ARRB2_ENST00000346341.2_Silent_p.P164P|ARRB2_ENST00000412477.3_Silent_p.P200P|ARRB2_ENST00000574954.1_5'UTR|ARRB2_ENST00000572457.1_5'UTR|ARRB2_ENST00000571206.1_5'UTR	NM_001257328.1|NM_001257330.1|NM_004313.3	NP_001244257.1|NP_001244259.1|NP_004304.1	P32121	ARRB2_HUMAN	arrestin, beta 2	179					cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|G-protein coupled receptor internalization|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway	coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	angiotensin receptor binding|ubiquitin protein ligase binding			large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						CGGAGAAACCCGGCCCCCAGC	0.637000													7	18					0	0	8.12818e-05	0	0
PCDHB7	56129	broad.mit.edu	37	5	140552862	140552862	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:140552862G>A	ENST00000231137.3	+	1	620	c.446G>A	c.(445-447)gGg>gAg	p.G149E		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		149	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACCACTCCAGGGGCGGCATTT	0.438000													24	47					0	0	0.000375601	0	0
WSCD1	23302	broad.mit.edu	37	17	5998538	5998538	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr17:5998538C>T	ENST00000574946.1	+	5	1234	c.844C>T	c.(844-846)Cag>Tag	p.Q282*	WSCD1_ENST00000574232.1_Nonsense_Mutation_p.Q282*|WSCD1_ENST00000573634.1_Nonsense_Mutation_p.Q166*|WSCD1_ENST00000317744.5_Nonsense_Mutation_p.Q282*|WSCD1_ENST00000539421.1_Nonsense_Mutation_p.Q282*			Q658N2	WSCD1_HUMAN	WSC domain containing 1	282	WSC 2.					integral to membrane	sulfotransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						CTTTTGTTCCCAGAAAGTAAG	0.562000													9	15					0	0	0.000274275	0	0
HUWE1	10075	broad.mit.edu	37	X	53575230	53575230	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:53575230A>T	ENST00000342160.3	-	67	10497	c.10040T>A	c.(10039-10041)tTt>tAt	p.F3347Y	HUWE1_ENST00000262854.6_Missense_Mutation_p.F3347Y			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3347					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GTGGCTGGGAAATACCTGCCG	0.532000													7	13					0	0	8.12818e-05	0	0
EMC1	23065	broad.mit.edu	37	1	19570194	19570194	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:19570194G>A	ENST00000477853.1	-	4	336	c.294C>T	c.(292-294)atC>atT	p.I98I	EMC1_ENST00000375208.3_Silent_p.I76I|EMC1_ENST00000375199.3_Silent_p.I98I	NM_001271428.1|NM_015047.1	NP_001258357.1|NP_055862.1			ER membrane protein complex subunit 1																		TGGACACAGTGATCACATCTG	0.527000													33	45					0	0	0.00058488	0	0
PTGIR	5739	broad.mit.edu	37	19	47124806	47124806	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:47124806C>T	ENST00000291294.2	-	3	1025	c.892G>A	c.(892-894)Gct>Act	p.A298T	PTGIR_ENST00000598865.1_Missense_Mutation_p.A86T|PTGIR_ENST00000597185.1_Missense_Mutation_p.A27T|PTGIR_ENST00000594275.1_Missense_Mutation_p.A55T	NM_000960.3	NP_000951.1	P43119	PI2R_HUMAN	prostaglandin I2 (prostacyclin) receptor (IP)	298					cell-cell signaling|G-protein signaling, coupled to cyclic nucleotide second messenger|platelet activation	integral to plasma membrane	G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	13		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000327)|all cancers(93;0.000641)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0331)	Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Epoprostenol(DB01240)|Iloprost(DB01088)|Misoprostol(DB00929)	TGGAAGACAGCCTTGCGGAAA	0.637000													30	35					0	0	0.00178596	0	0
MYO7B	4648	broad.mit.edu	37	2	128390866	128390866	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:128390866G>A	ENST00000389524.4	+	39	5417	c.5364G>A	c.(5362-5364)gtG>gtA	p.V1788V	MYO7B_ENST00000409816.2_Silent_p.V1787V|MYO7B_ENST00000409090.1_Silent_p.V640V|MYO7B_ENST00000428314.1_Silent_p.V1787V			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1787	MyTH4 2.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CGCACCAGGTGGAGGTGGAGG	0.672000													7	18					0	0	0.000274275	0	0
KIAA1328	57536	broad.mit.edu	37	18	34647216	34647216	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr18:34647216C>T	ENST00000591619.1	+	7	1714	c.928C>T	c.(928-930)Cgt>Tgt	p.R310C	KIAA1328_ENST00000435985.2_Missense_Mutation_p.R30C|KIAA1328_ENST00000586501.1_Missense_Mutation_p.R30C|KIAA1328_ENST00000280020.5_Missense_Mutation_p.R314C|KIAA1328_ENST00000586135.1_Missense_Mutation_p.R30C|KIAA1328_ENST00000543923.1_Missense_Mutation_p.R206C			Q86T90	K1328_HUMAN	KIAA1328	314										central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	14				COAD - Colon adenocarcinoma(74;0.195)		TGCTGCAGATCGTGTTCATGA	0.458000													21	39					0	0	0.000375601	0	0
RBM28	55131	broad.mit.edu	37	7	127958082	127958082	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr7:127958082G>A	ENST00000223073.1	-	15	1755	c.1641C>T	c.(1639-1641)ttC>ttT	p.F547F	RBM28_ENST00000481788.1_Intron|RBM28_ENST00000415472.2_Silent_p.F406F	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	547	RRM 4.				mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						CGTGCTCTTGGAACTCCGCAA	0.512000													10	38					0	0	0.000442599	0	0
HECW2	57520	broad.mit.edu	37	2	197208412	197208412	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:197208412C>T	ENST00000260983.2	-	3	551	c.369G>A	c.(367-369)tgG>tgA	p.W123*	HECW2_ENST00000409111.1_5'UTR	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	123					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GCTCAATTCTCCATACAATTT	0.373000													89	134					0	0	0.000781405	0	0
ARMC10	83787	broad.mit.edu	37	7	102738832	102738832	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr7:102738832G>A	ENST00000323716.3	+	7	1256	c.864G>A	c.(862-864)aaG>aaA	p.K288K	ARMC10_ENST00000541300.1_Silent_p.K170K|ARMC10_ENST00000454559.1_Silent_p.K194K|ARMC10_ENST00000441711.2_Silent_p.K253K|ARMC10_ENST00000425331.1_Silent_p.K229K|ARMC10_ENST00000428183.2_Silent_p.K229K	NM_031905.4	NP_114111.2	Q8N2F6	ARM10_HUMAN	armadillo repeat containing 10	288					regulation of growth	endoplasmic reticulum membrane|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	11						AGAATATAAAGAACTGCCTCA	0.388000													23	137					0	0	0.000720815	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857332	9857332	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr16:9857332G>A	ENST00000396573.2	-	14	4378	c.4069C>T	c.(4069-4071)Ctc>Ttc	p.L1357F	GRIN2A_ENST00000330684.3_Missense_Mutation_p.L1357F|GRIN2A_ENST00000396575.2_Missense_Mutation_p.L1357F|GRIN2A_ENST00000562109.1_Intron|GRIN2A_ENST00000535259.1_Intron|GRIN2A_ENST00000404927.2_Intron	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1357					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TCTGGCAAGAGAGACTTGCTC	0.532000													18	41					0	0	0.000566183	0	0
MROH2B	133558	broad.mit.edu	37	5	41061770	41061770	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:41061770G>A	ENST00000399564.4	-	6	967	c.517C>T	c.(517-519)Ccc>Tcc	p.P173S		NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		CTGGGGTAGGGAAAATCTCTC	0.448000													29	64					0	0	0.000692331	0	0
KIAA0430	9665	broad.mit.edu	37	16	15724341	15724341	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr16:15724341C>T	ENST00000396368.3	-	7	1578	c.1372G>A	c.(1372-1374)Gaa>Aaa	p.E458K	KIAA0430_ENST00000344181.3_Missense_Mutation_p.E280K|KIAA0430_ENST00000551742.1_Missense_Mutation_p.E458K|KIAA0430_ENST00000548025.1_Missense_Mutation_p.E455K|KIAA0430_ENST00000602337.1_Missense_Mutation_p.E455K|KIAA0430_ENST00000540441.2_Missense_Mutation_p.E458K	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN	KIAA0430	457						peroxisome	nucleotide binding|RNA binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						TCACTAAGTTCCAATGCAAAA	0.438000													25	23					0	0	0.000878237	0	0
OR4D5	219875	broad.mit.edu	37	11	123810973	123810973	+	Missense_Mutation	SNP	C	C	T	rs138187932		TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr11:123810973C>T	ENST00000307033.2	+	1	724	c.650C>T	c.(649-651)tCg>tTg	p.S217L		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CTTCTGGGATCGTACACAGCA	0.517000													67	45					0	0	0.000781405	0	0
C8B	732	broad.mit.edu	37	1	57399055	57399055	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:57399055G>A	ENST00000543257.1	-	11	1915	c.1349C>T	c.(1348-1350)tCc>tTc	p.S450F	C8B_ENST00000371237.4_Missense_Mutation_p.S502F|C8B_ENST00000535057.1_Missense_Mutation_p.S440F	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	502	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex		p.S502F(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						ACAGTGGCAGGAACTAACTTC	0.522000													29	39					0	0	0.00106085	0	0
SEC24C	9632	broad.mit.edu	37	10	75527676	75527676	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr10:75527676C>T	ENST00000339365.2	+	16	2254	c.2092C>T	c.(2092-2094)Ctc>Ttc	p.L698F	SEC24C_ENST00000345254.4_Missense_Mutation_p.L698F|SEC24C_ENST00000496827.1_3'UTR|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000411652.2_Missense_Mutation_p.L579F|SEC24C_ENST00000540668.1_Intron	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	698					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					AGATCTCTTTCTCTTCCCTAA	0.522000													23	9					0	0	0.000295444	0	0
CDH24	64403	broad.mit.edu	37	14	23518845	23518845	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr14:23518845C>T	ENST00000397359.3	-	11	1961	c.1702G>A	c.(1702-1704)Gac>Aac	p.D568N	CDH24_ENST00000554034.1_Missense_Mutation_p.D530N|CDH24_ENST00000267383.5_Missense_Mutation_p.D568N|CDH24_ENST00000487137.2_Missense_Mutation_p.D530N|CDH24_ENST00000485922.1_5'UTR	NM_022478.3	NP_071923.2	Q86UP0	CAD24_HUMAN	cadherin 24, type 2	568	Cadherin 5.				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		CCTCGGTTGTCCTGGACAGTA	0.597000													14	19					0	0	0.00121646	0	0
CCDC22	28952	broad.mit.edu	37	X	49099887	49099887	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:49099887G>A	ENST00000376227.3	+	6	843	c.673G>A	c.(673-675)Gat>Aat	p.D225N	CCDC22_ENST00000496651.1_3'UTR	NM_014008.3	NP_054727.1	O60826	CCD22_HUMAN	coiled-coil domain containing 22	225										NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	18						CCGGCCAGGGGATGAGGACTG	0.677000													3	4					0	0	6.4e-05	0	0
TMEM26	219623	broad.mit.edu	37	10	63170154	63170154	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr10:63170154C>T	ENST00000399298.3	-	6	1401	c.1033G>A	c.(1033-1035)Gag>Aag	p.E345K	TMEM26_ENST00000507507.1_5'UTR	NM_178505.6	NP_848600.2	Q6ZUK4	TMM26_HUMAN	transmembrane protein 26	345						integral to membrane				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					TCCTTAGACTCGTTCTGCCAG	0.587000													16	13					0	0	0.000422831	0	0
IGSF9	57549	broad.mit.edu	37	1	159897632	159897632	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:159897632G>A	ENST00000368094.1	-	20	3473	c.3276C>T	c.(3274-3276)ttC>ttT	p.F1092F	IGSF9_ENST00000493195.1_5'UTR|IGSF9_ENST00000361509.3_Silent_p.F1076F	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	1092						cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			TGTCCCCAGGGAATTCTGAGT	0.522000													9	28					0	0	0.000673444	0	0
IFT88	8100	broad.mit.edu	37	13	21217703	21217703	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr13:21217703C>T	ENST00000382778.4	+	20	2937	c.1819C>T	c.(1819-1821)Cgt>Tgt	p.R607C	IFT88_ENST00000319980.6_Missense_Mutation_p.R607C|IFT88_ENST00000537103.1_Missense_Mutation_p.R579C|IFT88_ENST00000351808.5_Missense_Mutation_p.R598C			Q13099	IFT88_HUMAN	intraflagellar transport 88 homolog (Chlamydomonas)	607					cilium morphogenesis	centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum	protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	27		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)		ATTATATGATCGTGAAGGAGA	0.338000													23	48					0	0	0.000720815	0	0
MPV17	4358	broad.mit.edu	37	2	27535421	27535421	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:27535421G>A	ENST00000402722.1	-	5	314	c.280C>T	c.(280-282)Ccc>Tcc	p.P94S	MPV17_ENST00000380044.1_Silent_p.L105L|MPV17_ENST00000403262.2_Silent_p.L105L|MPV17_ENST00000405983.1_Silent_p.L120L|MPV17_ENST00000405076.1_Intron|MPV17_ENST00000402310.1_Silent_p.L105L|MPV17_ENST00000357186.6_Silent_p.L49L|MPV17_ENST00000233545.2_Silent_p.L105L			P39210	MPV17_HUMAN	MpV17 mitochondrial inner membrane protein	0					cellular response to reactive oxygen species|glomerular basement membrane development|homeostatic process|inner ear development|mitochondrial genome maintenance|regulation of reactive oxygen species metabolic process	integral to peroxisomal membrane|mitochondrial inner membrane				lung(4)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTACCAGTGGGAGAAAGCAGC	0.567000													25	51					0	0	0.000878237	0	0
FAM3B	54097	broad.mit.edu	37	21	42710382	42710382	+	Missense_Mutation	SNP	G	G	A	rs146229700		TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr21:42710382G>A	ENST00000398652.3	+	4	424	c.358G>A	c.(358-360)Gga>Aga	p.G120R	FAM3B_ENST00000357985.2_Missense_Mutation_p.G81R|FAM3B_ENST00000479810.2_3'UTR|FAM3B_ENST00000398646.3_Missense_Mutation_p.G104R|FAM3B_ENST00000398647.3_Missense_Mutation_p.G33R			P58499	FAM3B_HUMAN	family with sequence similarity 3, member B	81					apoptosis|insulin secretion	extracellular space	cytokine activity			central_nervous_system(2)|endometrium(1)|lung(2)	5		Prostate(19;1.57e-07)|all_epithelial(19;0.0404)				GTTACTCAGCGGAGGTGGCAG	0.458000													19	49					0	0	0.000958276	0	0
VBP1	7411	broad.mit.edu	37	X	154456711	154456711	+	Silent	SNP	C	C	T	rs11501		TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:154456711C>T	ENST00000286428.5	+	4	448	c.331C>T	c.(331-333)Ctg>Ttg	p.L111L	VBP1_ENST00000535916.1_Silent_p.L106L	NM_003372.5	NP_003363.1	P61758	PFD3_HUMAN	von Hippel-Lindau binding protein 1	111					'de novo' posttranslational protein folding	nucleus|prefoldin complex	unfolded protein binding			NS(1)|endometrium(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GGCAGATAACCTGTATTGCAA	0.398000													56	126					0	0	0.000781405	0	0
PRUNE2	158471	broad.mit.edu	37	9	79323953	79323953	+	Nonsense_Mutation	SNP	G	G	C			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr9:79323953G>C	ENST00000428286.1	-	8	3360	c.2160C>G	c.(2158-2160)taC>taG	p.Y720*	PRUNE2_ENST00000376718.3_Nonsense_Mutation_p.Y1079*			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1079					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TGGGGTCGTCGTAACTGGACT	0.517000													37	29					0	0	0.000509022	0	0
ZNF146	7705	broad.mit.edu	37	19	36728168	36728168	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:36728168G>A	ENST00000456324.1	+	3	2275	c.826G>A	c.(826-828)Gct>Act	p.A276T	ZNF146_ENST00000443387.2_Missense_Mutation_p.A276T|ZNF565_ENST00000355114.5_Intron	NM_001099638.1|NM_001099639.1	NP_001093108.1|NP_001093109.1	Q15072	OZF_HUMAN	zinc finger protein 146	276	Interaction with TERF2IP.				regulation of transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|heparin binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11	Esophageal squamous(110;0.162)					ATGTGGGAAAGCTTTCAGCCA	0.403000													15	33					0	0	0.000219431	0	0
SLC9A1	6548	broad.mit.edu	37	1	27434230	27434230	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:27434230G>A	ENST00000263980.3	-	4	1766	c.1191C>T	c.(1189-1191)ttC>ttT	p.F397F	SLC9A1_ENST00000374086.3_Silent_p.F397F|SLC9A1_ENST00000545949.1_Silent_p.F58F	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN	solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	397					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)	AGACGCCGAGGAAGATGAAGA	0.607000													6	9					0	0	0.000157383	0	0
PRG4	10216	broad.mit.edu	37	1	186276363	186276363	+	Silent	SNP	G	G	A	rs113621509		TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:186276363G>A	ENST00000445192.2	+	7	1557	c.1512G>A	c.(1510-1512)aaG>aaA	p.K504K	PRG4_ENST00000367483.4_Silent_p.K463K|PRG4_ENST00000367486.3_Silent_p.K461K|PRG4_ENST00000367485.4_Silent_p.K411K|PRG4_ENST00000367484.3_Intron	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	504	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CCACTCCCAAGGAGCCTGCAC	0.647000													13	30					0	0	0.000151284	0	0
PDZD2	23037	broad.mit.edu	37	5	32058184	32058184	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:32058184C>T	ENST00000438447.1	+	12	2563	c.2175C>T	c.(2173-2175)atC>atT	p.I725I	PDZD2_ENST00000282493.3_Silent_p.I725I			O15018	PDZD2_HUMAN	PDZ domain containing 2	725					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						AGGACAGGATCGTCATGGAAG	0.483000													16	22					0	0	0.00152264	0	0
ABCA13	154664	broad.mit.edu	37	7	48308582	48308582	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr7:48308582C>T	ENST00000435803.1	+	16	2035	c.2011C>T	c.(2011-2013)Cct>Tct	p.P671S		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	671					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						TTTAGCTTTTCCTGAGGAATC	0.289000													24	16					0	0	0.00047179	0	0
BEND7	222389	broad.mit.edu	37	10	13522979	13522979	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr10:13522979G>A	ENST00000341083.3	-	6	1123	c.827C>T	c.(826-828)tCc>tTc	p.S276F	BEND7_ENST00000396898.2_Missense_Mutation_p.S341F|BEND7_ENST00000396900.2_Missense_Mutation_p.S328F|BEND7_ENST00000378605.3_Missense_Mutation_p.S289F	NM_152751.2	NP_689964.2	Q8N7W2	BEND7_HUMAN	BEN domain containing 7	328							protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						ATTGGGTAAGGAGTTAGCCAA	0.423000													44	20					0	0	0.000680045	0	0
INHBC	3626	broad.mit.edu	37	12	57843541	57843541	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:57843541C>T	ENST00000309668.2	+	2	922	c.795C>T	c.(793-795)atC>atT	p.I265I	INHBC_ENST00000550133.1_Intron	NM_005538.2	NP_005529.1	P55103	INHBC_HUMAN	inhibin, beta C	265					growth	extracellular region	growth factor activity|hormone activity|transforming growth factor beta receptor binding			breast(2)|endometrium(1)|large_intestine(6)|liver(2)|lung(4)|prostate(1)	16						ACGACTGGATCATCCAGCCTG	0.552000													8	36					0	0	0.000442599	0	0
TPTE	7179	broad.mit.edu	37	21	10973727	10973727	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr21:10973727C>T	ENST00000298232.7	-	4	374	c.7G>A	c.(7-9)Gaa>Aaa	p.E3K	TPTE_ENST00000342420.5_Missense_Mutation_p.E3K|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.E3K	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	3					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)		ACTCACCTTTCATTCATACGT	0.373000													20	77					0	0	0.00152264	0	0
PLA2G4E	123745	broad.mit.edu	37	15	42298225	42298225	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr15:42298225C>T	ENST00000399518.3	-	4	974	c.488G>A	c.(487-489)cGa>cAa	p.R163Q	PLA2G4E_ENST00000413860.2_Missense_Mutation_p.R134Q	NM_001206670.1	NP_001193599.1	Q3MJ16	PA24E_HUMAN	phospholipase A2, group IVE	145					phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		GGTTTTCTTTCGGAAACAGAG	0.507000													14	39					0	0	0.000151284	0	0
ZNF749	388567	broad.mit.edu	37	19	57955450	57955450	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:57955450C>T	ENST00000334181.4	+	3	1184	c.934C>T	c.(934-936)Cat>Tat	p.H312Y	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	312					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		TACACAGGCTCATCTGGTTGG	0.438000													20	36					0	0	0.000229342	0	0
SHD	56961	broad.mit.edu	37	19	4288268	4288268	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:4288268G>A	ENST00000543264.2	+	5	2208	c.745G>A	c.(745-747)Gat>Aat	p.D249N	SHD_ENST00000600475.1_3'UTR|SHD_ENST00000599689.1_Intron	NM_020209.3	NP_064594.3	Q96IW2	SHD_HUMAN	Src homology 2 domain containing transforming protein D	249	SH2.									breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|stomach(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18)		GAACAGGGCGGATGCAGAGAG	0.572000													12	23					0	0	0.000219431	0	0
GPR42	2866	broad.mit.edu	37	19	35862804	35862804	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:35862804C>T	ENST00000454971.1	+	2	744	c.543C>T	c.(541-543)ctC>ctT	p.L181L	GPR42_ENST00000597214.1_Silent_p.L181L					G protein-coupled receptor 42 (gene/pseudogene)											endometrium(1)|kidney(1)|skin(2)	4	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			TAGCCATCCTCCTGCCCGTGC	0.607000													9	7					0	0	0.000978159	0	0
CORO2A	7464	broad.mit.edu	37	9	100897142	100897142	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr9:100897142C>T	ENST00000343933.5	-	4	671	c.414G>A	c.(412-414)gtG>gtA	p.V138V	CORO2A_ENST00000375077.4_Silent_p.V138V	NM_003389.3	NP_003380.3	Q92828	COR2A_HUMAN	coronin, actin binding protein, 2A	138					actin cytoskeleton organization|intracellular signal transduction	actin cytoskeleton|transcriptional repressor complex	actin filament binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				GGTGCCACTCCACCAGGCCTA	0.592000													14	12					0	0	0.000422831	0	0
DUSP3	1845	broad.mit.edu	37	17	41847063	41847063	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr17:41847063G>A	ENST00000226004.3	-	3	535	c.472C>T	c.(472-474)Cgt>Tgt	p.R158C	DUSP3_ENST00000397937.2_Missense_Mutation_p.R117C	NM_004090.3	NP_004081.1	P51452	DUS3_HUMAN	dual specificity phosphatase 3	158	Tyrosine-protein phosphatase.				inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of JNK cascade|negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of mitotic cell cycle|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|immunological synapse|nucleoplasm	MAP kinase phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	7		Breast(137;0.00725)		BRCA - Breast invasive adenocarcinoma(366;0.116)		CCGATCTCACGGTTCTGCCTC	0.592000													11	33					0	0	0.00136819	0	0
TDP1	55775	broad.mit.edu	37	14	90509426	90509426	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr14:90509426T>G	ENST00000335725.4	+	17	2016	c.1766T>G	c.(1765-1767)aTa>aGa	p.I589R	TDP1_ENST00000555880.1_Missense_Mutation_p.Y553D|TDP1_ENST00000357382.3_Missense_Mutation_p.I350R|TDP1_ENST00000393452.3_3'UTR|TDP1_ENST00000393454.2_Missense_Mutation_p.I589R	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	589					cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		CGGCCATGGATATGGAACATT	0.413000								Repair of DNA-protein crosslinks					36	54					0	0	0.00111076	0	0
NAV2	89797	broad.mit.edu	37	11	19955420	19955420	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr11:19955420C>T	ENST00000396085.1	+	7	1991	c.1630C>T	c.(1630-1632)Ccc>Tcc	p.P544S	NAV2_ENST00000396087.3_Missense_Mutation_p.P567S|NAV2_ENST00000349880.4_Missense_Mutation_p.P544S|NAV2_ENST00000360655.4_Missense_Mutation_p.P480S|NAV2_ENST00000540292.1_Missense_Mutation_p.P498S|NAV2_ENST00000527559.2_Missense_Mutation_p.P496S	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	567						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						CAGCTTCATCCCCAAAGGGGG	0.562000													25	8					0	0	0.00127121	0	0
RBM42	79171	broad.mit.edu	37	19	36123881	36123881	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:36123881C>T	ENST00000262633.4	+	5	591	c.486C>T	c.(484-486)gtC>gtT	p.V162V	RBM42_ENST00000586618.1_Intron|RBM42_ENST00000589871.1_Intron|RBM42_ENST00000589559.1_Intron|RBM42_ENST00000588161.1_Intron|RBM42_ENST00000360475.4_Intron|RBM42_ENST00000592202.1_Intron	NM_024321.3	NP_077297.2	Q9BTD8	RBM42_HUMAN	RNA binding motif protein 42	162						cytoplasm|nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1)	21	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CAGCCTTCGTCCCCCACGTGC	0.632000													22	30					0	0	0.000586117	0	0
SEMA3F	6405	broad.mit.edu	37	3	50223737	50223737	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:50223737G>A	ENST00000002829.3	+	17	2253	c.1769G>A	c.(1768-1770)cGg>cAg	p.R590Q	SEMA3F_ENST00000413852.1_Missense_Mutation_p.R491Q|SEMA3F_ENST00000434342.1_Missense_Mutation_p.R559Q	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F	590					axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		CAGGACGTCCGGCACGGAAAC	0.637000													15	17					0	0	0.00121646	0	0
AP5Z1	9907	broad.mit.edu	37	7	4830963	4830963	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr7:4830963C>T	ENST00000348624.4	+	17	2465	c.2371C>T	c.(2371-2373)Ctg>Ttg	p.L791L	AP5Z1_ENST00000490487.1_3'UTR	NM_014855.2	NP_055670.1	O43299	K0415_HUMAN	adaptor-related protein complex 5, zeta 1 subunit	791					cell death|double-strand break repair via homologous recombination	cytoplasm|nucleus	protein binding										GCCCCTGGCCCTGCGCACGGT	0.672000													5	7					0	0	0.00116845	0	0
SEC23A	10484	broad.mit.edu	37	14	39536465	39536465	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr14:39536465G>A	ENST00000537403.1	-	6	1735	c.533C>T	c.(532-534)tCc>tTc	p.S178F	SEC23A_ENST00000545328.2_Missense_Mutation_p.S351F|SEC23A_ENST00000307712.6_Missense_Mutation_p.S380F|SEC23A_ENST00000536508.1_Missense_Mutation_p.S254F			Q15436	SC23A_HUMAN	Sec23 homolog A (S. cerevisiae)	380					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding			kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		TTTGAATAAGGAAGTATTGAA	0.358000													22	60					0	0	0.000295444	0	0
KCNU1	157855	broad.mit.edu	37	8	36793288	36793288	+	Silent	SNP	T	T	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr8:36793288T>A	ENST00000399881.3	+	27	3337	c.3300T>A	c.(3298-3300)tcT>tcA	p.S1100S		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	1100						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)		ACTCCCTCTCTTTTCCTAAGC	0.373000													58	119					0	0	0.000781405	0	0
OR7D4	125958	broad.mit.edu	37	19	9325046	9325046	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:9325046G>A	ENST00000308682.2	-	1	496	c.468C>T	c.(466-468)tcC>tcT	p.S156S		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						TATGAACCAGGGAGAACCAGA	0.527000													14	45					0	0	0.000219431	0	0
SRCAP	10847	broad.mit.edu	37	16	30750282	30750282	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr16:30750282C>T	ENST00000262518.4	+	34	9306	c.8921C>T	c.(8920-8922)cCc>cTc	p.P2974L	SRCAP_ENST00000395059.2_Missense_Mutation_p.P2912L|SRCAP_ENST00000344771.4_Missense_Mutation_p.P2816L	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2974	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CACCCATCACCCCTAACCCCA	0.577000													15	11					0	0	0.000566183	0	0
C6	729	broad.mit.edu	37	5	41150037	41150037	+	Splice_Site	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:41150037C>T	ENST00000263413.3	-	16	2645	c.2381_splice	c.e16+1	p.S794_splice	C6_ENST00000337836.5_Splice_Site_p.S794_splice	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	794	C5b-binding domain.|Complement control factor I module 1.|Kazal-like 1.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TATCTCTTACCTACAGTCTTC	0.393000													17	30					0	0	0.000958276	0	0
C1orf168	199920	broad.mit.edu	37	1	57258437	57258437	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:57258437G>A	ENST00000343433.6	-	2	129	c.49C>T	c.(49-51)Caa>Taa	p.Q17*	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	17										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						TCAAGATTTTGAAATTTGGCT	0.388000													84	174					0	0	0.000781405	0	0
BRAP	8315	broad.mit.edu	37	12	112121037	112121037	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:112121037G>A	ENST00000419234.4	-	2	350	c.157C>T	c.(157-159)Cca>Tca	p.P53S	BRAP_ENST00000327551.6_Missense_Mutation_p.P23S	NM_006768.3	NP_006759.3	Q7Z569	BRAP_HUMAN	BRCA1 associated protein	53					MAPKKK cascade|negative regulation of signal transduction|Ras protein signal transduction	cytoplasm|ubiquitin ligase complex	identical protein binding|nuclear localization sequence binding|nucleotide binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	20						TTCTCTCCTGGTGACTTGCCT	0.443000													56	95					0	0	0.000781405	0	0
MCL1	4170	broad.mit.edu	37	1	150551360	150551360	+	Missense_Mutation	SNP	A	A	C			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:150551360A>C	ENST00000369026.2	-	1	706	c.647T>G	c.(646-648)gTt>gGt	p.V216G	MCL1_ENST00000307940.3_Missense_Mutation_p.V216G	NM_001197320.1|NM_021960.4	NP_001184249.1|NP_068779.1	Q07820	MCL1_HUMAN	myeloid cell leukemia sequence 1 (BCL2-related)	216					anti-apoptosis|apoptosis|cell fate determination|cellular homeostasis|multicellular organismal development|response to cytokine stimulus	integral to membrane|mitochondrial outer membrane|nucleoplasm	BH3 domain binding|protein binding|protein channel activity|protein heterodimerization activity			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)	8	all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GCCATCCCCAACCCGTCGTAA	0.617000													11	34					0	0	0.000978159	0	0
KLRC3	3823	broad.mit.edu	37	12	10569321	10569321	+	Missense_Mutation	SNP	G	G	A	rs138941727		TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:10569321G>A	ENST00000396439.2	-	5	576	c.532C>T	c.(532-534)Cgt>Tgt	p.R178C	KLRC3_ENST00000381904.2_Missense_Mutation_p.R178C|KLRC3_ENST00000381903.2_Missense_Mutation_p.R178C|NKG2-E_ENST00000539033.1_Missense_Mutation_p.R178C	NM_002261.2	NP_002252.2			killer cell lectin-like receptor subfamily C, member 3									p.R178C(1)		large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						CTGCTGTTACGAAACACACCA	0.294000													19	30					0	0	0.000339439	0	0
ZNF17	7565	broad.mit.edu	37	19	57931998	57931998	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:57931998C>T	ENST00000307658.7	+	4	1407	c.1144C>T	c.(1144-1146)Cat>Tat	p.H382Y	ZNF17_ENST00000601808.1_Missense_Mutation_p.H380Y|AC004076.7_ENST00000597410.1_Intron			P17021	ZNF17_HUMAN	zinc finger protein 17	380					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)		CCAGAGAGTTCATACTGGAGA	0.398000													39	56					0	0	0.000374591	0	0
ARHGEF6	9459	broad.mit.edu	37	X	135862953	135862953	+	Missense_Mutation	SNP	A	A	C			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:135862953A>C	ENST00000250617.6	-	1	1294	c.89T>G	c.(88-90)tTt>tGt	p.F30C		NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	30	CH.				apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					GGACTTTAAAAACTCCTCCGG	0.433000													56	104					0	0	0.000781405	0	0
CEACAM16	388551	broad.mit.edu	37	19	45211244	45211244	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:45211244A>T	ENST00000587331.1	+	6	1267	c.1052A>T	c.(1051-1053)tAc>tTc	p.Y351F	CEACAM16_ENST00000405314.2_Missense_Mutation_p.Y351F|CTB-171A8.1_ENST00000590796.1_RNA	NM_001039213.2	NP_001034302.2	A7LI12	A7LI12_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 16	351										endometrium(3)|large_intestine(2)|lung(3)|ovary(1)	9	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)				TACGCCTGGTACCGCGGGCCT	0.692000													16	63					0	0	0.000958276	0	0
MCF2	4168	broad.mit.edu	37	X	138669893	138669893	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:138669893G>A	ENST00000520602.1	-	25	2969	c.2684C>T	c.(2683-2685)tCt>tTt	p.S895F	MCF2_ENST00000370573.4_Missense_Mutation_p.S835F|MCF2_ENST00000370578.4_Missense_Mutation_p.S980F|MCF2_ENST00000536274.1_Missense_Mutation_p.S796F|MCF2_ENST00000338585.6_Missense_Mutation_p.S851F|MCF2_ENST00000519895.1_Missense_Mutation_p.S911F|MCF2_ENST00000370576.4_Missense_Mutation_p.S835F|MCF2_ENST00000414978.1_Missense_Mutation_p.S895F			P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	835					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					CTGCTGAAGAGAAATCTGAAA	0.303000													48	80					0	0	0.000781405	0	0
IGKV1-16	28938	broad.mit.edu	37	2	89399622	89399622	+	RNA	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:89399622G>A	ENST00000479981.1	-	0	107																											ATGGAGACTGGGTCATCTGGA	0.438000													43	69					0	0	0.000781405	0	0
CDH17	1015	broad.mit.edu	37	8	95186178	95186178	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr8:95186178C>T	ENST00000027335.3	-	7	754	c.630G>A	c.(628-630)gtG>gtA	p.V210V	CDH17_ENST00000441892.2_Intron|CDH17_ENST00000450165.2_Silent_p.V210V	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	210	Cadherin 2.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			TCACTGAGATCACCAGATTAT	0.443000													20	27					0	0	0.00152264	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54676196	54676196	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:54676196C>T	ENST00000474759.1	+	11	1143	c.1095C>T	c.(1093-1095)atC>atT	p.I365I	CACNA2D3_ENST00000490478.1_Silent_p.I271I|CACNA2D3_ENST00000415676.2_Silent_p.I365I|CACNA2D3_ENST00000288197.5_Silent_p.I365I	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	365	VWFA.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		GTCAGGCCATCATGCTCATAA	0.428000													16	8					0	0	0.00121646	0	0
A2ML1	144568	broad.mit.edu	37	12	8982357	8982357	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:8982357C>T	ENST00000299698.7	+	4	624	c.444C>T	c.(442-444)ttC>ttT	p.F148F	A2ML1-AS1_ENST00000537288.1_RNA	NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	0						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						ATAGCAACTTCGTTCCAGTGA	0.458000													43	71					0	0	0.000680045	0	0
PIGO	84720	broad.mit.edu	37	9	35091524	35091524	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr9:35091524G>A	ENST00000378617.3	-	7	2754	c.2360C>T	c.(2359-2361)cCc>cTc	p.P787L	PIGO_ENST00000361778.2_Intron|PIGO_ENST00000298004.5_Intron|PIGO_ENST00000341666.3_Missense_Mutation_p.P787L	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	787					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			TTGAGAAGTGGGGGGGCCTGA	0.607000													22	13					0	0	0.00047179	0	0
BDP1	55814	broad.mit.edu	37	5	70855835	70855835	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:70855835T>A	ENST00000358731.4	+	37	7530	c.7267T>A	c.(7267-7269)Ttt>Att	p.F2423I	BDP1_ENST00000380675.2_3'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	2423					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		ACAAGATATTTTTCTTACCTC	0.408000													23	35					0	0	0.000720815	0	0
PCLO	27445	broad.mit.edu	37	7	82544905	82544905	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr7:82544905G>A	ENST00000423517.2	-	7	12734	c.12397C>T	c.(12397-12399)Cgt>Tgt	p.R4133C	PCLO_ENST00000333891.8_Missense_Mutation_p.R4133C|PCLO_ENST00000437081.1_Missense_Mutation_p.R853C	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4064					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GTCCCTCTACGAAATTCCTGT	0.408000													60	47					0	0	0.000781405	0	0
ARAP1	116985	broad.mit.edu	37	11	72422129	72422129	+	Missense_Mutation	SNP	C	C	A	rs140120181		TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr11:72422129C>A	ENST00000359373.5	-	9	2001	c.1150G>T	c.(1150-1152)Ggg>Tgg	p.G384W	ARAP1_ENST00000393609.3_Missense_Mutation_p.G384W|ARAP1_ENST00000393605.3_Missense_Mutation_p.G144W|ARAP1_ENST00000334211.8_Missense_Mutation_p.G139W|ARAP1_ENST00000429686.1_Missense_Mutation_p.G139W|ARAP1_ENST00000455638.2_Missense_Mutation_p.G384W|ARAP1_ENST00000426523.1_Missense_Mutation_p.G139W			Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	384	PH 1.				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						TTCTGGTCCCCGATGGCAGCC	0.542000													7	233					0.000673444	0.00376357	0.000673444	1	0
HIST2H2BF	440689	broad.mit.edu	37	1	149783859	149783859	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:149783859G>A	ENST00000427880.2	-	1	66	c.20C>T	c.(19-21)tCc>tTc	p.S7F	HIST2H2BF_ENST00000369167.1_Missense_Mutation_p.S7F|HIST2H2BF_ENST00000469483.1_5'UTR|HIST2H2BF_ENST00000545683.1_Missense_Mutation_p.S7F			Q5QNW6	H2B2F_HUMAN	histone cluster 2, H2bf	7					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Breast(34;0.0124)|all_hematologic(923;0.127)					AGCAGGAGCGGATTTCGCTGG	0.502000													37	72					0	0	0.000781405	0	0
ELK1	2002	broad.mit.edu	37	X	47500833	47500833	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:47500833G>A	ENST00000247161.3	-	2	107	c.8C>T	c.(7-9)cCa>cTa	p.P3L	ELK1_ENST00000343894.4_Missense_Mutation_p.P3L|ELK1_ENST00000592066.1_5'UTR|ELK1_ENST00000376983.3_Missense_Mutation_p.P3L	NM_005229.4	NP_005220.2	P19419	ELK1_HUMAN	ELK1, member of ETS oncogene family	3					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	10						CGTCACAGATGGGTCCATCGC	0.587000													3	8					0	0	6.4e-05	0	0
HEATR5B	54497	broad.mit.edu	37	2	37234374	37234374	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:37234374G>A	ENST00000233099.5	-	29	4691	c.4596C>T	c.(4594-4596)ctC>ctT	p.L1532L	HEATR5B_ENST00000354531.2_Silent_p.L1532L	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1532							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				CCACCGCATGGAGAATTGGGG	0.408000													31	63					0	0	0.000692331	0	0
KLRC1	3821	broad.mit.edu	37	12	10599208	10599208	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:10599208C>T	ENST00000544822.1	-	8	1031	c.644G>A	c.(643-645)cGa>cAa	p.R215Q	KLRC1_ENST00000359151.3_Missense_Mutation_p.R215Q|KLRC1_ENST00000347831.5_Missense_Mutation_p.R197Q|KLRC1_ENST00000536188.1_Missense_Mutation_p.R215Q|KLRC1_ENST00000408006.3_Missense_Mutation_p.R197Q	NM_213658.2	NP_998823.1	P26715	NKG2A_HUMAN	killer cell lectin-like receptor subfamily C, member 1	215	C-type lectin.				cell surface receptor linked signaling pathway|regulation of immune response	integral to plasma membrane	sugar binding|transmembrane receptor activity			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16						TGATTTAAGTCGATTTACTTG	0.333000													31	83					0	0	0.00128727	0	0
KIAA0355	9710	broad.mit.edu	37	19	34843722	34843722	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:34843722C>T	ENST00000299505.6	+	14	3948	c.3075C>T	c.(3073-3075)gaC>gaT	p.D1025D	AC010504.2_ENST00000591311.1_RNA	NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	1025										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					CAACCAACGACTGCAGTGCCG	0.652000													4	5					0	0	0.00024832	0	0
COL11A2	1302	broad.mit.edu	37	6	33135229	33135229	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:33135229C>T	ENST00000341947.2	-	56	4323	c.4096G>A	c.(4096-4098)Ggt>Agt	p.G1366S	COL11A2_ENST00000374714.1_Missense_Mutation_p.G1340S|COL11A2_ENST00000395197.1_Missense_Mutation_p.G1306S|COL11A2_ENST00000374712.1_Missense_Mutation_p.G1285S|COL11A2_ENST00000357486.1_Missense_Mutation_p.G1345S|COL11A2_ENST00000374713.1_Missense_Mutation_p.G1319S|COL11A2_ENST00000361917.1_Missense_Mutation_p.G1259S|COL11A2_ENST00000374708.4_Missense_Mutation_p.G1280S|COL11A2_ENST00000477772.1_Intron	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1366	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CCCCTCAGACCATCAGGGCCA	0.657000													10	13					0	0	0.000978159	0	0
PAN2	9924	broad.mit.edu	37	12	56715907	56715907	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:56715907G>A	ENST00000425394.2	-	20	3131	c.2755C>T	c.(2755-2757)Ctt>Ttt	p.L919F	PAN2_ENST00000440411.3_Missense_Mutation_p.L915F|PAN2_ENST00000257931.5_Missense_Mutation_p.L918F|PAN2_ENST00000548043.1_Missense_Mutation_p.L919F	NM_001127460.2	NP_001120932.1	Q504Q3	PAN2_HUMAN	PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	919					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						ACATAATAAAGGATTGCAGGT	0.403000													48	77					0	0	0.000781405	0	0
AKAP9	10142	broad.mit.edu	37	7	91641942	91641942	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr7:91641942A>G	ENST00000359028.2	+	10	3779	c.3554A>G	c.(3553-3555)aAa>aGa	p.K1185R	AKAP9_ENST00000358100.2_Missense_Mutation_p.K1185R|AKAP9_ENST00000356239.3_Missense_Mutation_p.K1173R			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1185					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CAGACTATGAAAACACAAGAA	0.338000			T	BRAF	papillary thyroid								48	35					0	0	0.000781405	0	0
MROH2B	133558	broad.mit.edu	37	5	41061769	41061769	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:41061769G>A	ENST00000399564.4	-	6	968	c.518C>T	c.(517-519)cCc>cTc	p.P173L		NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		TCTGGGGTAGGGAAAATCTCT	0.453000													30	66					0	0	0.000814825	0	0
PRDM16	63976	broad.mit.edu	37	1	3334427	3334427	+	Missense_Mutation	SNP	G	G	C			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:3334427G>C	ENST00000378398.3	+	12	2809	c.2727G>C	c.(2725-2727)gaG>gaC	p.E909D	PRDM16_ENST00000378391.2_Missense_Mutation_p.E909D|PRDM16_ENST00000442529.2_Missense_Mutation_p.E908D|PRDM16_ENST00000441472.2_Missense_Mutation_p.E908D|PRDM16_ENST00000514189.1_Missense_Mutation_p.E909D|PRDM16_ENST00000511072.1_Missense_Mutation_p.E910D|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000270722.5_Missense_Mutation_p.E909D			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	909	Interaction with CTBP1 and CTBP2 (By similarity).|Mediates interaction with SKI and regulation of TGF-beta signaling.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		AGAAGCTGGAGAGCTTTGCAG	0.607000			T	EVI1	"""MDS, AML"""								51	78					0	0	0.000781405	0	0
PLCH1	23007	broad.mit.edu	37	3	155215185	155215185	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:155215185G>A	ENST00000460012.1	-	15	2085	c.1728C>T	c.(1726-1728)acC>acT	p.T576T	PLCH1_ENST00000340059.7_Silent_p.T594T|PLCH1_ENST00000447496.2_Silent_p.T594T|PLCH1_ENST00000414191.1_Silent_p.T576T|PLCH1_ENST00000334686.6_Silent_p.T576T|PLCH1_ENST00000494598.1_Silent_p.T594T			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	594					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AGAGCTTCATGGTTTTCCTTC	0.468000													28	59					0	0	0.00178596	0	0
ZNF664	144348	broad.mit.edu	37	12	124497283	124497283	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:124497283C>T	ENST00000539644.1	+	6	2422	c.592C>T	c.(592-594)Ccc>Tcc	p.P198S	ZNF664_ENST00000337815.4_Missense_Mutation_p.P198S|RP11-522N14.1_ENST00000540762.1_RNA|ZNF664_ENST00000392404.3_Missense_Mutation_p.P198S|ZNF664_ENST00000538932.2_Missense_Mutation_p.P198S			Q8N3J9	ZN664_HUMAN	zinc finger protein 664	198				P -> H (in Ref. 4; AAH51696).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(5)|lung(6)|skin(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249)		TGGAGAGAAACCCTATAGATG	0.498000													24	35					0	0	0.00047179	0	0
KIAA1024	23251	broad.mit.edu	37	15	79755596	79755596	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr15:79755596C>T	ENST00000305428.3	+	3	2561	c.2486C>T	c.(2485-2487)tCt>tTt	p.S829F		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	829						integral to membrane				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						GGCCAACCTTCTTGGACCATT	0.627000													38	43					0	0	0.00148497	0	0
LRRC4B	94030	broad.mit.edu	37	19	51022446	51022446	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:51022446G>A	ENST00000599957.1	-	3	721	c.524C>T	c.(523-525)tCc>tTc	p.S175F	LRRC4B_ENST00000389201.3_Missense_Mutation_p.S175F			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	175						cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		GAAGGCGTAGGAGGGGATGCT	0.657000													14	22					0	0	0.000308642	0	0
MXRA5	25878	broad.mit.edu	37	X	3248289	3248289	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:3248289C>T	ENST00000217939.6	-	4	633	c.479G>A	c.(478-480)gGa>gAa	p.G160E		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	160						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GAGGAGATTTCCTTCCAAATG	0.468000													13	24					0	0	0.000308642	0	0
TPR	7175	broad.mit.edu	37	1	186313130	186313130	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:186313130G>A	ENST00000367478.3	-	26	3806	c.3510C>T	c.(3508-3510)gtC>gtT	p.V1170V		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	1170					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		CAGAGGCAACGACCTTGTCAC	0.388000			T	NTRK1	papillary thyroid								19	40					0	0	0.00074312	0	0
APMAP	57136	broad.mit.edu	37	20	24959506	24959506	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr20:24959506G>A	ENST00000217456.2	-	3	515	c.225C>T	c.(223-225)ccC>ccT	p.P75P	APMAP_ENST00000447138.1_Silent_p.P75P	NM_020531.2	NP_065392.1			adipocyte plasma membrane associated protein																		GCAAGAGCGGGGGTTCTTTGA	0.433000													26	33					0	0	0.000720815	0	0
FAM135B	51059	broad.mit.edu	37	8	139263157	139263157	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr8:139263157C>T	ENST00000395297.1	-	6	639	c.469G>A	c.(469-471)Gac>Aac	p.D157N		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	157										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TGGAAATAGTCGAACATGACC	0.592000										HNSCC(54;0.14)			53	58					0	0	0.000781405	0	0
WAS	7454	broad.mit.edu	37	X	48542280	48542280	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:48542280G>A	ENST00000376701.4	+	1	113	c.38G>A	c.(37-39)cGa>cAa	p.R13Q	WAS_ENST00000483750.1_3'UTR	NM_000377.2	NP_000368.1	P42768	WASP_HUMAN	Wiskott-Aldrich syndrome	13					blood coagulation|defense response|epidermis development|immune response|T cell receptor signaling pathway	actin cytoskeleton|cytosol	identical protein binding|small GTPase regulator activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(315;1.27e-10)				CCCGGGGGCCGAGGAGCACCA	0.597000			"""Mis, N, F, S"""			lymphoma							14	30					0	0	0.000308642	0	0
ART3	419	broad.mit.edu	37	4	77003118	77003118	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr4:77003118G>A	ENST00000355810.4	+	3	330	c.211G>A	c.(211-213)Gaa>Aaa	p.E71K	ART3_ENST00000513494.1_3'UTR|ART3_ENST00000341029.5_Missense_Mutation_p.E71K|ART3_ENST00000349321.3_Missense_Mutation_p.E71K	NM_001130016.2	NP_001123488.1	Q13508	NAR3_HUMAN	ADP-ribosyltransferase 3	71					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|stomach(1)	16			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TACTGTGTGGGAAAATGCAAA	0.413000													26	8					0	0	0.000586117	0	0
IPO5	3843	broad.mit.edu	37	13	98664589	98664589	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr13:98664589C>T	ENST00000261574.5	+	21	2379	c.2199C>T	c.(2197-2199)ttC>ttT	p.F733F	IPO5_ENST00000490680.1_Silent_p.F715F|IPO5_ENST00000539640.1_Silent_p.F590F	NM_002271.4	NP_002262.3	O00410	IPO5_HUMAN	importin 5	715					interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						AATTTTATTTCCACGATGATA	0.368000													21	51					0	0	0.00121646	0	0
TSPYL4	23270	broad.mit.edu	37	6	116574216	116574216	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:116574216G>A	ENST00000420283.1	-	1	1045	c.956C>T	c.(955-957)tCc>tTc	p.S319F		NM_021648.4	NP_067680.3	Q9UJ04	TSYL4_HUMAN	TSPY-like 4	319					nucleosome assembly	nucleus				endometrium(2)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(2)	11		all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234)		all cancers(137;0.045)|OV - Ovarian serous cystadenocarcinoma(136;0.0666)|GBM - Glioblastoma multiforme(226;0.095)|Epithelial(106;0.125)		CCGGCCAGAGGATCTGCGTTC	0.542000													14	32					0	0	0.000958276	0	0
DDR1	780	broad.mit.edu	37	6	30860301	30860301	+	Missense_Mutation	SNP	G	G	A	rs147485952		TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:30860301G>A	ENST00000324771.8	+	10	1629	c.1081G>A	c.(1081-1083)Gaa>Aaa	p.E361K	DDR1_ENST00000376568.3_Missense_Mutation_p.E361K|DDR1_ENST00000508312.1_Missense_Mutation_p.E379K|DDR1_ENST00000361741.4_Missense_Mutation_p.E92K|DDR1_ENST00000376570.4_Missense_Mutation_p.E361K|DDR1_ENST00000376575.3_Missense_Mutation_p.E361K|DDR1_ENST00000513240.1_Missense_Mutation_p.E361K|DDR1_ENST00000376567.2_Missense_Mutation_p.E361K|DDR1_ENST00000376569.3_Missense_Mutation_p.E361K|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000454612.2_Missense_Mutation_p.E361K|DDR1_ENST00000452441.1_Missense_Mutation_p.E361K|DDR1_ENST00000418800.2_Missense_Mutation_p.E361K			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	361					cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.E361K(2)		central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	ACTCTTCAGCGAAATCTCCTT	0.567000													20	50					0	0	0.000295444	0	0
MRPS9	64965	broad.mit.edu	37	2	105713766	105713766	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:105713766C>T	ENST00000258455.3	+	10	1193	c.1083C>T	c.(1081-1083)gtC>gtT	p.V361V	AC104655.2_ENST00000432211.1_RNA|AC104655.2_ENST00000449177.1_RNA	NM_182640.2	NP_872578.1	P82933	RT09_HUMAN	mitochondrial ribosomal protein S9	361					DNA damage response, detection of DNA damage|translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						AGGACGAGGTCGAGTGGATGA	0.557000													7	26					0	0	8.12818e-05	0	0
ABCB1	5243	broad.mit.edu	37	7	87175237	87175237	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr7:87175237C>T	ENST00000265724.3	-	16	2246	c.1829G>A	c.(1828-1830)gGa>gAa	p.G610E	ABCB1_ENST00000543898.1_Missense_Mutation_p.G546E	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	610	ABC transporter 1.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	ATCATGATTTCCTTTCTCCAC	0.398000													23	73					0	0	0.000375601	0	0
KCTD7	154881	broad.mit.edu	37	7	66273942	66273942	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr7:66273942C>A	ENST00000380828.2	+	11	1421	c.1267C>A	c.(1267-1269)Cgc>Agc	p.R423S	RABGEF1_ENST00000437078.2_Missense_Mutation_p.R397S|RABGEF1_ENST00000484547.2_3'UTR|RABGEF1_ENST00000450873.2_Missense_Mutation_p.R383S|KCTD7_ENST00000510829.2_Missense_Mutation_p.R383S|RABGEF1_ENST00000439720.2_Missense_Mutation_p.R396S|KCTD7_ENST00000451741.2_Missense_Mutation_p.R383S|RABGEF1_ENST00000284957.5_Missense_Mutation_p.R383S			Q96MP8	KCTD7_HUMAN	potassium channel tetramerization domain containing 7	0						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.R383C(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						GGATTTTGATCGCTACATGTC	0.458000													28	52					1.75199e-13	9.93327e-13	0.00127121	1	0
CCDC102A	92922	broad.mit.edu	37	16	57562890	57562890	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr16:57562890C>T	ENST00000258214.2	-	2	446	c.200G>A	c.(199-201)gGc>gAc	p.G67D		NM_033212.3	NP_149989.2	Q96A19	C102A_HUMAN	coiled-coil domain containing 102A	67										endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8						CTCCCAGTCGCCGTCGGCCAG	0.801000													6	4					0	0	8.12818e-05	0	0
KDM2B	84678	broad.mit.edu	37	12	121986882	121986882	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:121986882G>A	ENST00000377069.4	-	6	896	c.490C>T	c.(490-492)Ctg>Ttg	p.L164L	KDM2B_ENST00000536437.1_Silent_p.L78L|KDM2B_ENST00000377071.4_Silent_p.L195L|KDM2B_ENST00000538046.2_Silent_p.L195L	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	195					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						CAGTCCACCAGGTCTACCTGA	0.562000													17	24					0	0	0.000958276	0	0
ZFYVE26	23503	broad.mit.edu	37	14	68251080	68251080	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr14:68251080G>A	ENST00000347230.4	-	20	3735	c.3597C>T	c.(3595-3597)ctC>ctT	p.L1199L	ZFYVE26_ENST00000555452.1_Silent_p.L1199L	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1199					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		TCTCAAACAGGAGATGTGACA	0.488000													71	133					0	0	0.000781405	0	0
PTCH1	5727	broad.mit.edu	37	9	98231211	98231211	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr9:98231211G>A	ENST00000430669.2	-	14	2459	c.1874C>T	c.(1873-1875)aCc>aTc	p.T625I	PTCH1_ENST00000437951.1_Missense_Mutation_p.T625I|PTCH1_ENST00000375274.2_Missense_Mutation_p.T690I|PTCH1_ENST00000429896.2_Missense_Mutation_p.T540I|PTCH1_ENST00000421141.1_Missense_Mutation_p.T540I|PTCH1_ENST00000418258.1_Missense_Mutation_p.T540I|PTCH1_ENST00000331920.6_Missense_Mutation_p.T691I			Q13635	PTC1_HUMAN	patched 1	691					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	p.T691I(1)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				CTGTGTCACGGTGACGGGCTG	0.642000													17	11					0	0	0.000566183	0	0
CDK5R2	8941	broad.mit.edu	37	2	219825368	219825368	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:219825368G>A	ENST00000302625.4	+	1	992	c.826G>A	c.(826-828)Gag>Aag	p.E276K	AC097468.7_ENST00000429343.1_RNA	NM_003936.4	NP_003927.1	Q13319	CD5R2_HUMAN	cyclin-dependent kinase 5, regulatory subunit 2 (p39)	276					regulation of cyclin-dependent protein kinase activity	cyclin-dependent protein kinase 5 holoenzyme complex	cyclin-dependent protein kinase 5 activator activity			central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	8		Renal(207;0.0474)		Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CATGGGCAACGAGATCTCCTA	0.677000													41	68					0	0	0.00148497	0	0
HOXB8	3218	broad.mit.edu	37	17	46691682	46691682	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr17:46691682G>A	ENST00000239144.4	-	1	619	c.385C>T	c.(385-387)Ccg>Tcg	p.P129S	HOXB7_ENST00000567101.1_Intron|HOXB8_ENST00000576562.1_Missense_Mutation_p.P129S	NM_024016.3	NP_076921.1	P17481	HXB8_HUMAN	homeobox B8	129						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(8)|urinary_tract(2)	11						GTGGGCGACGGGCTCTGCTCG	0.711000													4	10					0	0	0.00024832	0	0
FSIP2	401024	broad.mit.edu	37	2	186673690	186673690	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:186673690A>G	ENST00000343098.5	+	17	19924	c.19924A>G	c.(19924-19926)Aaa>Gaa	p.K6642E	FSIP2_ENST00000424728.1_Missense_Mutation_p.K6553E	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						ACCTCTTGAGAAACTTAAGCA	0.338000													22	15					0	0	0.000229342	0	0
PDIA3	2923	broad.mit.edu	37	15	44062493	44062493	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr15:44062493G>A	ENST00000300289.5	+	11	1460	c.1312G>A	c.(1312-1314)Gcc>Acc	p.A438T	PDIA3_ENST00000538521.1_Missense_Mutation_p.A418T	NM_005313.4	NP_005304.3	P30101	PDIA3_HUMAN	protein disulfide isomerase family A, member 3	438	Thioredoxin 2.				cell redox homeostasis|glycerol ether metabolic process|post-translational protein modification|protein folding|protein import into nucleus|protein N-linked glycosylation via asparagine|protein retention in ER lumen|signal transduction	endoplasmic reticulum lumen|melanosome	cysteine-type endopeptidase activity|electron carrier activity|phospholipase C activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(2)|skin(1)	17		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.48e-07)		GGATGCCACAGCCAATGATGT	0.398000													14	33					0	0	0.000566183	0	0
FBXL19	54620	broad.mit.edu	37	16	30939897	30939897	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr16:30939897C>T	ENST00000338343.4	+	6	1124	c.737C>T	c.(736-738)cCg>cTg	p.P246L	FBXL19_ENST00000380310.2_Missense_Mutation_p.P266L|FBXL19_ENST00000565690.1_Intron|FBXL19_ENST00000562319.1_Missense_Mutation_p.P246L|FBXL19_ENST00000471231.2_5'UTR			Q6PCT2	FXL19_HUMAN	F-box and leucine-rich repeat protein 19	266	Pro-rich.						DNA binding|zinc ion binding			breast(2)|endometrium(3)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						GTTCTGAATCCGAGCCAGGCT	0.692000													4	7					0	0	0.00116845	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156638326	156638326	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr4:156638326G>A	ENST00000296518.7	+	8	1797	c.1588G>A	c.(1588-1590)Gat>Aat	p.D530N	GUCY1A3_ENST00000393832.3_Missense_Mutation_p.D272N|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.D530N|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.D530N|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.D530N|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.D530N|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.D530N			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	530	Guanylate cyclase.			GDAYCVA -> AMPIVWL (in Ref. 1; CAA47145).	blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		GACCATTGGCGATGCCTATTG	0.408000													23	14					0	0	0.00127121	0	0
POLE	5426	broad.mit.edu	37	12	133249242	133249242	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:133249242G>A	ENST00000320574.5	-	15	1700	c.1657C>T	c.(1657-1659)Cgc>Tgc	p.R553C	POLE_ENST00000535270.1_Missense_Mutation_p.R526C	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	553					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		ATATCGCTGCGGAAAACCCCA	0.587000								DNA polymerases (catalytic subunits)					27	40					0	0	0.00178596	0	0
ARHGDIA	396	broad.mit.edu	37	17	79827439	79827439	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr17:79827439G>A	ENST00000269321.7	-	3	388	c.253C>T	c.(253-255)Ccc>Tcc	p.P85S	ARHGDIA_ENST00000580685.1_Missense_Mutation_p.P85S|ARHGDIA_ENST00000581876.1_Intron|ARHGDIA_ENST00000584461.1_Missense_Mutation_p.P85S|ARHGDIA_ENST00000541078.2_Missense_Mutation_p.P85S|ARHGDIA_ENST00000400721.4_Missense_Mutation_p.P85S	NM_001185078.1|NM_004309.4	NP_001172007.1|NP_004300.1	P52565	GDIR1_HUMAN	Rho GDP dissociation inhibitor (GDI) alpha	85					anti-apoptosis|cellular component movement|negative regulation of axonogenesis|negative regulation of cell adhesion|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytoskeleton|cytosol	GTPase activator activity|identical protein binding|Rho GDP-dissociation inhibitor activity			endometrium(1)|lung(1)|prostate(1)	3	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			AGCTCCAGGGGGCCCGGGGCC	0.746000													4	7					0	0	0.00024832	0	0
MUC16	94025	broad.mit.edu	37	19	9056878	9056878	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:9056878G>A	ENST00000397910.4	-	3	30771	c.30568C>T	c.(30568-30570)Cct>Tct	p.P10190S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10192	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						GTGGACCCAGGAGAAGAAGGT	0.453000													32	36					0	0	0.000491102	0	0
TTN	7273	broad.mit.edu	37	2	179580319	179580319	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:179580319C>T	ENST00000589042.1	-	89	26046	c.25822G>A	c.(25822-25824)Gaa>Aaa	p.E8608K	TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E7364K|TTN_ENST00000591111.1_Missense_Mutation_p.E8291K|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8291							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)			TTGTGCATTTCCAGCACAGCC	0.458000													15	35					0	0	0.000308642	0	0
TRPM6	140803	broad.mit.edu	37	9	77343228	77343228	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr9:77343228C>A	ENST00000451710.3	-	37	6111	c.5874G>T	c.(5872-5874)ttG>ttT	p.L1958F	TRPM6_ENST00000449912.2_Missense_Mutation_p.L1949F|TRPM6_ENST00000376871.3_Missense_Mutation_p.L791F|TRPM6_ENST00000361255.3_Missense_Mutation_p.L1949F|TRPM6_ENST00000376872.3_Missense_Mutation_p.L909F|TRPM6_ENST00000360774.1_Missense_Mutation_p.L1954F			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1954	Alpha-type protein kinase.				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						CATCTTCCCCCAAATTGGCCG	0.423000													12	13					0.000978159	0.00545416	0.000978159	1	0
PCDHA10	56139	broad.mit.edu	37	5	140236204	140236204	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:140236204C>T	ENST00000307360.5	+	1	571	c.571C>T	c.(571-573)Cca>Tca	p.P191S	PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.P191S|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1														NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGACAAATTCCCAGTGCTTGT	0.403000													37	45					0	0	0.000814825	0	0
ATN1	1822	broad.mit.edu	37	12	7043347	7043347	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:7043347G>T	ENST00000356654.4	+	3	273	c.36G>T	c.(34-36)atG>atT	p.M12I	ATN1_ENST00000396684.2_Missense_Mutation_p.M12I	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	12					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						AGATGTCAATGAGGAGTGGAC	0.537000													11	28					4.68919e-08	2.65256e-07	0.000673444	1	0
TRAF2	7186	broad.mit.edu	37	9	139815663	139815663	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr9:139815663C>T	ENST00000359662.3	+	9	1335	c.1290C>T	c.(1288-1290)tcC>tcT	p.S430S	TRAF2_ENST00000247668.2_Silent_p.S378S|TRAF2_ENST00000536468.1_Silent_p.S378S			Q12933	TRAF2_HUMAN	TNF receptor-associated factor 2	378	MATH.				activation of caspase activity|activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cellular protein complex assembly|induction of apoptosis by extracellular signals|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|protein autoubiquitination|protein homotrimerization|protein K63-linked ubiquitination|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane	CD40 receptor binding|enzyme binding|protein binding|signal transducer activity|sphingolipid binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)		CCATCTTCTCCCCAGGTGTGG	0.602000													12	6					0	0	0.000219431	0	0
ZNFX1	57169	broad.mit.edu	37	20	47887289	47887289	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr20:47887289G>A	ENST00000396105.1	-	3	1306	c.1060C>T	c.(1060-1062)Cgc>Tgc	p.R354C	ZNFX1_ENST00000371754.4_Missense_Mutation_p.R354C|ZNFX1_ENST00000371752.1_Missense_Mutation_p.R354C	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	354							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			ATATTGGGGCGAAGGAAGGGC	0.502000													46	97					0	0	0.000781405	0	0
NPY1R	4886	broad.mit.edu	37	4	164247362	164247362	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr4:164247362C>A	ENST00000296533.2	-	2	876	c.345G>T	c.(343-345)ttG>ttT	p.L115F	NPY1R_ENST00000509586.1_Intron	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	115					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)				CAAAAGGATTCAACTTACACA	0.443000													10	9					1.58986e-06	8.97293e-06	0.000673444	1	0
SIDT1	54847	broad.mit.edu	37	3	113342554	113342554	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:113342554T>A	ENST00000264852.4	+	23	3007	c.2281T>A	c.(2281-2283)Ttc>Atc	p.F761I	SIDT1_ENST00000463226.1_3'UTR|SIDT1_ENST00000393830.3_Missense_Mutation_p.F766I	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	761						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						CCTATATTTTTTCTTCCAGAA	0.532000													38	51					0	0	0.000374591	0	0
ZCCHC5	203430	broad.mit.edu	37	X	77913641	77913641	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:77913641C>T	ENST00000321110.1	-	2	572	c.277G>A	c.(277-279)Gat>Aat	p.D93N		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	93	Pro-rich.						nucleic acid binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						GGTAGAAGATCCTGTGGCTCT	0.647000													7	15					0	0	0.000157383	0	0
SALL3	27164	broad.mit.edu	37	18	76754644	76754644	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr18:76754644G>A	ENST00000536229.3	+	1	2963	c.2254G>A	c.(2254-2256)Gac>Aac	p.D752N	SALL3_ENST00000537592.2_Missense_Mutation_p.D885N|SALL3_ENST00000575389.2_Missense_Mutation_p.D885N			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	885					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		GGCCGTGGGCGACCTGGAGAG	0.701000													16	21					0	0	0.00074312	0	0
RALGAPA2	57186	broad.mit.edu	37	20	20484026	20484026	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr20:20484026G>A	ENST00000202677.6	-	35	5319	c.5177C>T	c.(5176-5178)cCg>cTg	p.P1726L		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	1726	Rap-GAP.				activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						TGAGTCTGACGGCATTCGAGT	0.537000													20	45					0	0	0.000295444	0	0
DNM3	26052	broad.mit.edu	37	1	172007556	172007556	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:172007556A>T	ENST00000358155.4	+	7	1123	c.947A>T	c.(946-948)aAt>aTt	p.N316I	DNM3_ENST00000520906.1_Missense_Mutation_p.N316I|DNM3_ENST00000367733.2_Missense_Mutation_p.N316I|DNM3_ENST00000367731.1_Missense_Mutation_p.N316I|DNM3_ENST00000355305.5_Missense_Mutation_p.N316I	NM_015569.3	NP_056384.2	Q9UQ16	DYN3_HUMAN	dynamin 3	316					endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						GCCTACAAAAATTTCAAACCA	0.413000													44	70					0	0	0.000781405	0	0
FAM194A	131831	broad.mit.edu	37	3	150404140	150404140	+	Splice_Site	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:150404140C>T	ENST00000295910.6	-	4	607	c.553_splice	c.e4-1	p.R185_splice	FAM194A_ENST00000491361.1_Splice_Site_p.R39_splice	NM_152394.3	NP_689607.2	Q7L0X2	F194A_HUMAN	family with sequence similarity 194, member A	185										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						AGGCTTTCTTCCCTGTGAAAA	0.363000													27	39					0	0	0.001512	0	0
SPTB	6710	broad.mit.edu	37	14	65259726	65259726	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr14:65259726G>A	ENST00000389722.3	-	13	2708	c.2655C>T	c.(2653-2655)gtC>gtT	p.V885V	SPTB_ENST00000542895.1_Silent_p.V885V|SPTB_ENST00000389721.5_Silent_p.V885V|SPTB_ENST00000389720.3_Silent_p.V885V|SPTB_ENST00000556626.1_Silent_p.V885V	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	885					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TGTGCTGCACGACCTCCAGGT	0.572000													11	27					0	0	0.000151284	0	0
GRSF1	2926	broad.mit.edu	37	4	71691860	71691860	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr4:71691860T>C	ENST00000254799.6	-	7	1355	c.1238A>G	c.(1237-1239)aAt>aGt	p.N413S	GRSF1_ENST00000545193.1_Missense_Mutation_p.N295S|GRSF1_ENST00000508091.1_Intron|GRSF1_ENST00000502323.1_Missense_Mutation_p.N251S|GRSF1_ENST00000439371.1_Missense_Mutation_p.N251S	NM_002092.3	NP_002083.3	Q12849	GRSF1_HUMAN	G-rich RNA sequence binding factor 1	413	RRM 3.				mRNA polyadenylation		mRNA binding|nucleotide binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(2)	17		all_hematologic(202;0.21)	Lung(101;0.235)			GTCTTGGGCATTGGCTTGGAA	0.398000													19	10					0	0	0.000375601	0	0
UTP14C	9724	broad.mit.edu	37	13	52604978	52604978	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr13:52604978C>T	ENST00000521776.2	+	2	2771	c.2038C>T	c.(2038-2040)Cag>Tag	p.Q680*		NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)	680					cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		AGCAGCTCATCAGGTACAAGT	0.473000													68	103					0	0	0.000781405	0	0
RAPGEF3	10411	broad.mit.edu	37	12	48141519	48141519	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:48141519G>A	ENST00000405493.2	-	14	1532	c.1323C>T	c.(1321-1323)gaC>gaT	p.D441D	RAPGEF3_ENST00000389212.3_Silent_p.D483D|RAPGEF3_ENST00000395358.3_Silent_p.D483D|RAPGEF3_ENST00000549151.1_Silent_p.D441D|RAPGEF3_ENST00000548919.1_Silent_p.D441D|RAPGEF3_ENST00000171000.4_Silent_p.D441D|RAPGEF3_ENST00000449771.2_Silent_p.D483D	NM_001098532.2|NM_006105.5	NP_001092002.1|NP_006096.2	A8K2G5	A8K2G5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3	441					regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		TGGCCACAGGGTCAGTGTGGA	0.637000													12	27					0	0	0.000219431	0	0
CLGN	1047	broad.mit.edu	37	4	141320054	141320054	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr4:141320054C>T	ENST00000325617.5	-	8	1275	c.835G>A	c.(835-837)Gat>Aat	p.D279N	CLGN_ENST00000414773.1_Missense_Mutation_p.D279N|CLGN_ENST00000537281.1_Missense_Mutation_p.D279N	NM_004362.2	NP_004353.1	O14967	CLGN_HUMAN	calmegin	279					protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					GCTCTTTCATCCCATTCCTCA	0.403000													47	43					0	0	0.000781405	0	0
DNAH8	1769	broad.mit.edu	37	6	38885135	38885135	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:38885135G>A	ENST00000359357.3	+	67	9864	c.9610G>A	c.(9610-9612)Gat>Aat	p.D3204N	DNAH8_ENST00000449981.2_Missense_Mutation_p.D3421N|DNAH8_ENST00000441566.1_Missense_Mutation_p.D3168N					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TGTTACTATGGATCCAGAAAA	0.398000													27	44					0	0	0.000878237	0	0
SOX6	55553	broad.mit.edu	37	11	16340070	16340070	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr11:16340070G>A	ENST00000352083.6	-	3	444	c.367C>T	c.(367-369)Cgc>Tgc	p.R123C	SOX6_ENST00000528429.1_Missense_Mutation_p.R123C|SOX6_ENST00000533658.1_5'UTR|SOX6_ENST00000527619.1_Missense_Mutation_p.R126C|SOX6_ENST00000316399.6_Missense_Mutation_p.R123C|SOX6_ENST00000396356.3_Missense_Mutation_p.R123C|SOX6_ENST00000528252.1_Missense_Mutation_p.R123C			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	123					muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						CTCCCTTTGCGGCGCTCTGGG	0.498000													67	35					0	0	0.000781405	0	0
APOB	338	broad.mit.edu	37	2	21231795	21231795	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:21231795C>T	ENST00000233242.1	-	26	8072	c.7945G>A	c.(7945-7947)Gaa>Aaa	p.E2649K		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2649					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ATGGTAAATTCTGGTGTGGAA	0.353000													188	313					0	0	0.000781405	0	0
SLC24A3	57419	broad.mit.edu	37	20	19664827	19664827	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr20:19664827C>T	ENST00000328041.6	+	11	1106	c.909C>T	c.(907-909)ttC>ttT	p.F303F		NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	303						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TAGCAAATTTCCACCGCAAAG	0.468000													27	57					0	0	0.00178596	0	0
FIG4	9896	broad.mit.edu	37	6	110110840	110110840	+	Missense_Mutation	SNP	A	A	C			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:110110840A>C	ENST00000230124.3	+	19	2264	c.2140A>C	c.(2140-2142)Act>Cct	p.T714P	FIG4_ENST00000441478.2_Missense_Mutation_p.T437P	NM_014845.5	NP_055660.1	Q92562	FIG4_HUMAN	FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)	714					cell death	endosome membrane	protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		AAGTCCATTTACTGTGCGTAA	0.338000													24	54					0	0	0.00178596	0	0
EPPK1	83481	broad.mit.edu	37	8	144941698	144941698	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr8:144941698C>T	ENST00000525985.1	-	2	5795	c.5724G>A	c.(5722-5724)agG>agA	p.R1908R				P58107	EPIPL_HUMAN	epiplakin 1	1908						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TCATGACCTCCCTGGTGGAGG	0.657000													10	10					0	0	0.000673444	0	0
SPTA1	6708	broad.mit.edu	37	1	158622276	158622276	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:158622276T>A	ENST00000368148.3	-	23	3536	c.3356A>T	c.(3355-3357)aAg>aTg	p.K1119M	SPTA1_ENST00000368147.3_Missense_Mutation_p.K1119M	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1119					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTCATCAAACTTTTTCTGCAG	0.398000													32	56					0	0	0.00111076	0	0
COL11A1	1301	broad.mit.edu	37	1	103449719	103449719	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:103449719C>T	ENST00000358392.2	-	31	2884	c.2567G>A	c.(2566-2568)gGa>gAa	p.G856E	COL11A1_ENST00000353414.4_Missense_Mutation_p.G805E|COL11A1_ENST00000512756.1_Missense_Mutation_p.G728E|COL11A1_ENST00000370096.3_Missense_Mutation_p.G844E	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	844	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TCCTGGATATCCTGGTAATCC	0.264000													15	25					0	0	0.000958276	0	0
MAP7D1	55700	broad.mit.edu	37	1	36644057	36644057	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:36644057C>T	ENST00000316156.4	+	9	2088	c.1635C>T	c.(1633-1635)ccC>ccT	p.P545P	MAP7D1_ENST00000373151.2_Silent_p.P582P|MAP7D1_ENST00000373148.4_Silent_p.P119P|MAP7D1_ENST00000373150.4_Silent_p.P550P			Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	582	Pro-rich.					cytoplasm|spindle				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				CCCCTGCTCCCCCGGTGACCC	0.682000													5	6					0	0	0.000157383	0	0
HECA	51696	broad.mit.edu	37	6	139498230	139498230	+	Silent	SNP	C	C	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:139498230C>A	ENST00000367658.2	+	4	1905	c.1620C>A	c.(1618-1620)ctC>ctA	p.L540L	RP1-225E12.2_ENST00000590679.1_RNA|RP1-225E12.2_ENST00000586229.1_RNA|RP1-225E12.2_ENST00000590219.1_RNA|RP1-225E12.2_ENST00000415194.2_RNA|RP1-225E12.2_ENST00000587577.1_RNA|RP1-225E12.2_ENST00000586266.1_RNA|RP1-225E12.2_ENST00000589192.1_RNA|RP1-225E12.2_ENST00000591102.1_RNA|RP1-225E12.2_ENST00000588638.1_RNA|RP1-225E12.2_ENST00000588529.1_RNA|RP1-225E12.2_ENST00000585447.1_RNA|RP1-225E12.3_ENST00000585874.1_RNA	NM_016217.2	NP_057301.1	Q9UBI9	HDC_HUMAN	headcase homolog (Drosophila)	540					respiratory tube development					endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		TCAAAGTTCTCGAAGCTTATT	0.368000													6	15					3.59834e-05	0.000202314	0.00116845	1	0
ZNF429	353088	broad.mit.edu	37	19	21720483	21720483	+	Missense_Mutation	SNP	G	G	C			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:21720483G>C	ENST00000358491.4	+	4	1836	c.1628G>C	c.(1627-1629)gGc>gCc	p.G543A	ZNF429_ENST00000597078.1_Intron	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	543					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						GAAGAATGTGGCAAAGCTTTT	0.363000													3	25					0	0	6.4e-05	0	0
A4GALT	53947	broad.mit.edu	37	22	43089095	43089095	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr22:43089095G>A	ENST00000401850.1	-	2	1352	c.863C>T	c.(862-864)cCc>cTc	p.P288L	A4GALT_ENST00000249005.2_Missense_Mutation_p.P288L|A4GALT_ENST00000381278.3_Missense_Mutation_p.P288L			Q9NPC4	A4GAT_HUMAN	alpha 1,4-galactosyltransferase	288					glycosphingolipid biosynthetic process|plasma membrane organization	Golgi stack|integral to Golgi membrane|membrane fraction	lactosylceramide 4-alpha-galactosyltransferase activity			NS(1)|central_nervous_system(2)|large_intestine(6)|skin(1)|urinary_tract(1)	11						GTCCTGCCAGGGGATGGGGTA	0.637000													8	5					0	0	0.000673444	0	0
ATP8B2	57198	broad.mit.edu	37	1	154317908	154317908	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:154317908G>T	ENST00000368489.3	+	23	2680	c.2680G>T	c.(2680-2682)Ggg>Tgg	p.G894W		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	880					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.G894R(1)	IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GCTGGTGCATGGGCGCTGGTC	0.527000											OREG0013835	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	304					3.86212e-05	0.000216817	0.000673444	1	0
CLDN3	1365	broad.mit.edu	37	7	73184200	73184200	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr7:73184200C>T	ENST00000395145.2	-	1	400	c.180G>A	c.(178-180)caG>caA	p.Q60Q		NM_001306.3	NP_001297.1	O15551	CLD3_HUMAN	claudin 3	60					response to hypoxia	integral to plasma membrane|tight junction	structural molecule activity|transmembrane receptor activity			kidney(1)|lung(1)	2		Lung NSC(55;0.159)				TGCACTGCATCTGGCCGGTGC	0.652000													13	31					0	0	0.000151284	0	0
NHS	4810	broad.mit.edu	37	X	17743841	17743841	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:17743841G>A	ENST00000380060.3	+	6	1890	c.1552G>A	c.(1552-1554)Gaa>Aaa	p.E518K	NHS_ENST00000398097.3_Missense_Mutation_p.E362K	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	518						nucleus		p.E518K(1)		breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					GGGTGACCATGAAAGAACCCC	0.557000													22	43					0	0	0.000720815	0	0
SGSM3	27352	broad.mit.edu	37	22	40803434	40803434	+	Nonsense_Mutation	SNP	T	T	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr22:40803434T>A	ENST00000248929.9	+	13	1575	c.1386T>A	c.(1384-1386)taT>taA	p.Y462*	SGSM3_ENST00000454798.2_Nonsense_Mutation_p.Y395*	NM_015705.4	NP_056520.2	Q96HU1	SGSM3_HUMAN	small G protein signaling modulator 3	462					cell cycle arrest|Rap protein signal transduction	cytoplasm	Rab GTPase activator activity|Rab GTPase binding			cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						CTCCAGACTATAGCATGGAGA	0.642000													15	11					0	0	0.000308642	0	0
TMEM200A	114801	broad.mit.edu	37	6	130762228	130762228	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:130762228C>T	ENST00000392429.1	+	2	3039	c.661C>T	c.(661-663)Cga>Tga	p.R221*	TMEM200A_ENST00000545622.1_Nonsense_Mutation_p.R221*|TMEM200A_ENST00000296978.3_Nonsense_Mutation_p.R221*	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	221						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		GAGCAGTTTTCGAATGGACAG	0.478000													16	33					0	0	0.000422831	0	0
OR9I1	219954	broad.mit.edu	37	11	57886273	57886273	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr11:57886273A>G	ENST00000302610.1	-	1	643	c.644T>C	c.(643-645)cTg>cCg	p.L215P	OR9Q1_ENST00000335397.3_Intron	NM_001005211.1	NP_001005211.1	Q8NGQ6	OR9I1_HUMAN	olfactory receptor, family 9, subfamily I, member 1	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|liver(1)|lung(15)|pancreas(1)|skin(1)|urinary_tract(1)	23		Breast(21;0.0589)				ATAGGAAATCAGGATGACGGA	0.478000													8	9					0	0	0.000157383	0	0
SCN9A	6335	broad.mit.edu	37	2	167162390	167162390	+	Nonsense_Mutation	SNP	T	T	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:167162390T>A	ENST00000303354.6	-	5	851	c.511A>T	c.(511-513)Aaa>Taa	p.K171*	SCN9A_ENST00000375387.4_Nonsense_Mutation_p.K171*|SCN9A_ENST00000409435.1_Nonsense_Mutation_p.K170*|SCN9A_ENST00000409672.1_Nonsense_Mutation_p.K170*			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	170						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	GCAAGGATTTTTACAAGTGAT	0.373000													28	35					0	0	0.000720815	0	0
BRF1	2972	broad.mit.edu	37	14	105718853	105718853	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr14:105718853G>A	ENST00000546474.1	-	5	15494	c.535C>T	c.(535-537)Ccg>Tcg	p.P179S	BRF1_ENST00000379937.2_Missense_Mutation_p.P152S|BRF1_ENST00000327359.3_Missense_Mutation_p.P64S|BRF1_ENST00000440513.3_Missense_Mutation_p.P64S	NM_001242787.1|NM_001519.3	NP_001229716.1|NP_001510.2	Q92994	TF3B_HUMAN	BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit	179					positive regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription	transcription factor TFIIIB complex	translation initiation factor activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		CCTATGGCCGGCGCATTGATG	0.532000													13	18					0	0	0.000219431	0	0
DLGAP2	9228	broad.mit.edu	37	8	1624744	1624744	+	Nonsense_Mutation	SNP	G	G	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr8:1624744G>T	ENST00000421627.2	+	8	2142	c.2008G>T	c.(2008-2010)Gaa>Taa	p.E670*		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	749					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CGGTCTGCGGGAATACCACTC	0.562000													6	3					5.18039e-06	2.91928e-05	0.000157383	1	0
HFM1	164045	broad.mit.edu	37	1	91859874	91859874	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:91859874G>A	ENST00000370425.3	-	4	368	c.270C>T	c.(268-270)ttC>ttT	p.F90F	HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000370424.3_Intron	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	90							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		AGGCAAACTGGAATTTTTGTG	0.308000													21	19					0	0	0.00121646	0	0
MTUS2	23281	broad.mit.edu	37	13	30066811	30066811	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr13:30066811G>A	ENST00000431530.3	+	10	3622	c.3564G>A	c.(3562-3564)aaG>aaA	p.K1188K	MTUS2_ENST00000542829.1_Silent_p.K67K|MTUS2_ENST00000380808.2_Silent_p.K157K	NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	1178						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						AGCTTGAAAAGAAAGAATTGG	0.343000													23	36					0	0	0.000720815	0	0
SYT2	127833	broad.mit.edu	37	1	202566040	202566040	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:202566040C>T	ENST00000367267.1	-	9	1297	c.1105G>A	c.(1105-1107)Gaa>Aaa	p.E369K	SYT2_ENST00000367268.4_Missense_Mutation_p.E369K	NM_001136504.1	NP_001129976.1	Q8N9I0	SYT2_HUMAN	synaptotagmin II	369	C2 2.|Phospholipid binding (By similarity).				neurotransmitter secretion	cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	protein binding|transporter activity			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	29			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)	CCTATGGCTTCGTTCTTGCCC	0.607000													19	47					0	0	0.00152264	0	0
ANAPC4	29945	broad.mit.edu	37	4	25379079	25379079	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr4:25379079C>T	ENST00000315368.3	+	2	172	c.30C>T	c.(28-30)tcC>tcT	p.S10S	ANAPC4_ENST00000510092.1_Silent_p.S10S	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN	anaphase promoting complex subunit 4	10					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				GTTTCCCATCCTTCCGGGTGG	0.632000													11	36					0	0	0.00136819	0	0
MRPL30	51263	broad.mit.edu	37	2	99812098	99812098	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:99812098T>A	ENST00000338148.3	+	6	614	c.416T>A	c.(415-417)cTc>cAc	p.L139H	C2orf15_ENST00000512183.2_Missense_Mutation_p.L139H|MRPL30_ENST00000465432.1_3'UTR	NM_145212.3	NP_660213.1	Q8TCC3	RM30_HUMAN	mitochondrial ribosomal protein L30	139					translation	mitochondrion|ribosome	structural constituent of ribosome			breast(1)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10						AACACGTGCCTCAAAAGCACT	0.478000													40	76					0	0	0.00170553	0	0
DDI1	414301	broad.mit.edu	37	11	103908174	103908174	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr11:103908174G>A	ENST00000302259.3	+	1	867	c.624G>A	c.(622-624)cgG>cgA	p.R208R	PDGFD_ENST00000393158.2_Intron|PDGFD_ENST00000302251.5_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	208					proteolysis		aspartic-type endopeptidase activity			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		CACTGGATCGGGAAGCTCAGG	0.498000													42	24					0	0	0.00148497	0	0
XIRP2	129446	broad.mit.edu	37	2	167760381	167760381	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:167760381C>T	ENST00000409195.1	+	2	478	c.389C>T	c.(388-390)cCa>cTa	p.P130L	XIRP2_ENST00000409728.1_Missense_Mutation_p.P130L|XIRP2_ENST00000409043.1_Missense_Mutation_p.P130L|XIRP2_ENST00000295237.9_Missense_Mutation_p.P130L|XIRP2_ENST00000409756.2_Missense_Mutation_p.P130L|XIRP2_ENST00000420519.1_Missense_Mutation_p.P130L	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GGAAACAAACCAGCTGAGTAC	0.458000													22	58					0	0	0.00047179	0	0
DNAH5	1767	broad.mit.edu	37	5	13780988	13780988	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:13780988C>T	ENST00000265104.4	-	53	9005	c.8901G>A	c.(8899-8901)agG>agA	p.R2967R		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2967	AAA 4 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ATGAAGCCAACCTCGTCAGGC	0.468000									Kartagener syndrome				18	21					0	0	0.000958276	0	0
OR6T1	219874	broad.mit.edu	37	11	123814360	123814360	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr11:123814360G>A	ENST00000321252.2	-	1	220	c.186C>T	c.(184-186)ttC>ttT	p.F62F		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		AATTCCGCAGGAAGAAGTACA	0.488000													42	21					0	0	0.000509022	0	0
MUC16	94025	broad.mit.edu	37	19	9027568	9027568	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:9027568G>A	ENST00000397910.4	-	12	36779	c.36576C>T	c.(36574-36576)acC>acT	p.T12192T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12194					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						AGCTTCGATGGGTGAAACCTG	0.537000													25	25					0	0	0.000878237	0	0
NEK7	140609	broad.mit.edu	37	1	198247118	198247118	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:198247118C>T	ENST00000367385.4	+	6	742	c.400C>T	c.(400-402)Cct>Tct	p.P134S	NEK7_ENST00000538004.1_Missense_Mutation_p.P134S	NM_133494.2	NP_598001.1	Q8TDX7	NEK7_HUMAN	NIMA-related kinase 7	134	Protein kinase.					cytoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.P134S(1)		endometrium(3)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21						GAGGCTAATTCCTGAAAGAAC	0.318000													37	94					0	0	0.000953801	0	0
DNER	92737	broad.mit.edu	37	2	230411738	230411738	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:230411738G>A	ENST00000341772.4	-	5	1052	c.918C>T	c.(916-918)acC>acT	p.T306T		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	306					central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		CCGGCACACAGGTGCTGACCT	0.468000													33	55					0	0	0.000339439	0	0
DNAH11	8701	broad.mit.edu	37	7	21630843	21630843	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr7:21630843A>T	ENST00000328843.6	+	14	2346	c.2315A>T	c.(2314-2316)aAa>aTa	p.K772I	DNAH11_ENST00000409508.3_Missense_Mutation_p.K772I			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	772	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GGGTATAATAAACTCAAACAG	0.433000									Kartagener syndrome				44	28					0	0	0.000437636	0	0
MYLK	4638	broad.mit.edu	37	3	123401111	123401111	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:123401111C>T	ENST00000360772.3	-	21	3990	c.3612G>A	c.(3610-3612)cgG>cgA	p.R1204R	MYLK_ENST00000346322.5_Silent_p.R1135R|MYLK_ENST00000475616.1_Silent_p.R1204R|MYLK_ENST00000510775.1_5'UTR|MYLK_ENST00000360304.3_Silent_p.R1204R|MYLK_ENST00000359169.1_Silent_p.R1204R|MYLK_ENST00000354792.5_Silent_p.R4R			Q15746	MYLK_HUMAN	myosin light chain kinase	1204	Actin-binding (calcium/calmodulin- insensitive) (By similarity).				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TCTTGGGCCTCCGGGATTTCA	0.562000													7	8					0	0	0.000442599	0	0
ABCA3	21	broad.mit.edu	37	16	2345602	2345602	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr16:2345602C>T	ENST00000301732.5	-	18	3103	c.2403G>A	c.(2401-2403)gaG>gaA	p.E801E	ABCA3_ENST00000382381.3_Silent_p.E743E	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	801			E -> D (in a breast cancer sample; somatic mutation).		response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.E801D(1)		breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				TGTGCGTGCTCTCTCTGGGAA	0.627000													50	84					0	0	0.000781405	0	0
TTN	7273	broad.mit.edu	37	2	179613668	179613668	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:179613668G>A	ENST00000360870.5	-	46	13681	c.13459C>T	c.(13459-13461)Caa>Taa	p.Q4487*	TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	617	Ig-like 25.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATCTTCTTTTGAGGAGGATTA	0.318000													32	44					0	0	0.00178596	0	0
C12orf42	374470	broad.mit.edu	37	12	103700002	103700002	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:103700002G>A	ENST00000548048.1	-	8	676	c.180C>T	c.(178-180)ttC>ttT	p.F60F	C12orf42_ENST00000548789.1_5'UTR|C12orf42_ENST00000548883.1_Silent_p.F127F|C12orf42_ENST00000378113.2_Silent_p.F127F|C12orf42_ENST00000315192.8_Intron			Q96LP6	CL042_HUMAN	chromosome 12 open reading frame 42	127										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						GAGAGGAACGGAATTCTTCAT	0.463000													15	25					0	0	0.00074312	0	0
MRPL4	51073	broad.mit.edu	37	19	10363306	10363306	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:10363306C>T	ENST00000393733.2	+	3	231	c.204C>T	c.(202-204)tcC>tcT	p.S68S	MRPL4_ENST00000253099.6_Silent_p.S68S|CTD-2369P2.5_ENST00000592893.1_RNA|MRPL4_ENST00000307422.5_Silent_p.S68S|MRPL4_ENST00000590669.1_Silent_p.S68S|MRPL4_ENST00000588502.1_Silent_p.S67S			Q9BYD3	RM04_HUMAN	mitochondrial ribosomal protein L4	68					translation	mitochondrion|ribosome	structural constituent of ribosome			breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11		Renal(1328;0.0112)	OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;1.99e-06)|all cancers(31;4.81e-06)	Lung(535;0.00705)		GGGTCGAGTCCTTGCGGGGCT	0.677000													24	31					0	0	0.000586117	0	0
TPTE	7179	broad.mit.edu	37	21	10914373	10914373	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr21:10914373C>T	ENST00000298232.7	-	20	1659	c.1292G>A	c.(1291-1293)gGa>gAa	p.G431E	TPTE_ENST00000342420.5_Missense_Mutation_p.G411E|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.G449E	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	449	C2 tensin-type.				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)		CGAACATTTTCCTAATGAAAT	0.318000													8	68					0	0	0.000673444	0	0
LMX1A	4009	broad.mit.edu	37	1	165175136	165175136	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:165175136G>A	ENST00000342310.3	-	8	1335	c.953C>T	c.(952-954)cCa>cTa	p.P318L	LMX1A_ENST00000294816.2_Missense_Mutation_p.P318L|LMX1A_ENST00000367893.4_Missense_Mutation_p.P318L|LMX1A_ENST00000489443.2_5'UTR	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	318						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					CATCTGGGGTGGGGTGAGACC	0.572000													28	34					0	0	0.000339439	0	0
SHROOM2	357	broad.mit.edu	37	X	9900726	9900726	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:9900726G>A	ENST00000380913.3	+	6	3493	c.3403G>A	c.(3403-3405)Gga>Aga	p.G1135R	SHROOM2_ENST00000493668.1_3'UTR|SHROOM2_ENST00000418909.2_5'UTR	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	1135					apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				CTGTGAGCGTGGAAGCCAGCA	0.652000													10	22					0	0	0.000442599	0	0
CLCNKA	1187	broad.mit.edu	37	1	16350333	16350333	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:16350333G>A	ENST00000375692.1	+	4	267	c.139G>A	c.(139-141)Gga>Aga	p.G47R	CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000420078.1_Missense_Mutation_p.G47R|CLCNKA_ENST00000439316.2_Missense_Mutation_p.G47R|CLCNKA_ENST00000331433.4_Missense_Mutation_p.G47R			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	47					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	GTTCCGCCTGGGAGAAGACTG	0.597000													21	30					0	0	0.000375601	0	0
SYCP2	10388	broad.mit.edu	37	20	58475306	58475306	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr20:58475306C>T	ENST00000357552.3	-	18	1516	c.1291G>A	c.(1291-1293)Gga>Aga	p.G431R	SYCP2_ENST00000371001.2_Missense_Mutation_p.G431R			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	431					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			AGCTCTTCTCCGACTGGTGAG	0.333000													13	22					0	0	0.000219431	0	0
CDC42BPG	55561	broad.mit.edu	37	11	64607732	64607732	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr11:64607732C>T	ENST00000342711.5	-	5	440	c.441G>A	c.(439-441)gtG>gtA	p.V147V		NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	147	Protein kinase.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						AGTAGTCCATCACAAGGTACT	0.652000													8	7					0	0	0.000157383	0	0
SHROOM2	357	broad.mit.edu	37	X	9900704	9900704	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:9900704G>A	ENST00000380913.3	+	6	3471	c.3381G>A	c.(3379-3381)ccG>ccA	p.P1127P	SHROOM2_ENST00000493668.1_3'UTR|SHROOM2_ENST00000418909.2_5'UTR	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	1127					apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				AGGACACCCCGAAGGCCACTG	0.657000													10	19					0	0	0.000442599	0	0
ACACB	32	broad.mit.edu	37	12	109698356	109698356	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:109698356C>T	ENST00000338432.7	+	48	6687	c.6568C>T	c.(6568-6570)Ctg>Ttg	p.L2190L	ACACB_ENST00000377848.3_Silent_p.L2190L|ACACB_ENST00000377854.5_Silent_p.L2120L|ACACB_ENST00000543201.1_3'UTR			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	2190	Carboxyltransferase.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	ACAGCCCATCCTGATCTATAT	0.522000													53	101					0	0	0.000781405	0	0
CACNA1G	8913	broad.mit.edu	37	17	48701370	48701370	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr17:48701370C>T	ENST00000352832.5	+	32	6154	c.5782C>T	c.(5782-5784)Cgg>Tgg	p.R1928W	CACNA1G_ENST00000359106.5_Missense_Mutation_p.R2055W|CACNA1G_ENST00000510366.1_Missense_Mutation_p.R1910W|CACNA1G_ENST00000512389.1_Missense_Mutation_p.R1951W|CACNA1G_ENST00000360761.4_Missense_Mutation_p.R1939W|CACNA1G_ENST00000429973.2_Missense_Mutation_p.R1944W|CACNA1G_ENST00000505165.1_Missense_Mutation_p.R1962W|CACNA1G_ENST00000503485.1_Missense_Mutation_p.R1928W|CACNA1G_ENST00000358244.5_Missense_Mutation_p.R1928W|CACNA1G_ENST00000514181.1_Missense_Mutation_p.R1937W|CACNA1G_ENST00000515411.1_Missense_Mutation_p.R1992W|CACNA1G_ENST00000502264.1_Missense_Mutation_p.R1984W|CACNA1G_ENST00000442258.2_Missense_Mutation_p.R1921W|CACNA1G_ENST00000507896.1_Missense_Mutation_p.R1951W|CACNA1G_ENST00000513964.1_Missense_Mutation_p.R1917W|CACNA1G_ENST00000510115.1_Missense_Mutation_p.R1976W|CACNA1G_ENST00000513689.2_Missense_Mutation_p.R1965W|CACNA1G_ENST00000514717.1_Missense_Mutation_p.R1905W|CACNA1G_ENST00000515765.1_Missense_Mutation_p.R1999W|CACNA1G_ENST00000354983.4_Missense_Mutation_p.R2021W|CACNA1G_ENST00000515165.1_Missense_Mutation_p.R1962W|CACNA1G_ENST00000507336.1_Missense_Mutation_p.R2044W|CACNA1G_ENST00000507510.2_Missense_Mutation_p.R2010W|CACNA1G_ENST00000507609.1_Missense_Mutation_p.R1955W|CACNA1G_ENST00000514079.1_Missense_Mutation_p.R1969W	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	2055					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CTACATGTGTCGGCATGGGAG	0.637000													20	30					0	0	0.00121646	0	0
MAGEB6	158809	broad.mit.edu	37	X	26212306	26212306	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:26212306C>T	ENST00000379034.1	+	2	492	c.343C>T	c.(343-345)Cct>Tct	p.P115S		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	115	Ser-rich.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						CACTGGCTCTCCTGATGCAGG	0.542000													30	58					0	0	0.000491102	0	0
TAF9B	51616	broad.mit.edu	37	X	77393565	77393565	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:77393565T>A	ENST00000341864.5	-	3	258	c.164A>T	c.(163-165)aAa>aTa	p.K55I		NM_015975.4	NP_057059.2	Q9HBM6	TAF9B_HUMAN	TAF9B RNA polymerase II, TATA box binding protein (TBP)-associated factor, 31kDa	55					negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell growth|transcription initiation, DNA-dependent	transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	14						CGAATAAATTTTTGCATCATC	0.368000													63	101					0	0	0.000781405	0	0
PRKCB	5579	broad.mit.edu	37	16	24185843	24185843	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr16:24185843T>C	ENST00000303531.7	+	12	1488	c.1336T>C	c.(1336-1338)Tac>Cac	p.Y446H	PRKCB_ENST00000321728.7_Missense_Mutation_p.Y446H	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	446	Protein kinase.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	TTTCAGATTTTACGCTGCAGA	0.388000													13	25					0	0	0.000219431	0	0
TEX14	56155	broad.mit.edu	37	17	56692624	56692624	+	Missense_Mutation	SNP	C	C	T	rs140185813	by1000genomes	TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr17:56692624C>T	ENST00000389934.3	-	8	967	c.850G>A	c.(850-852)Gac>Aac	p.D284N	TEX14_ENST00000349033.5_Missense_Mutation_p.D284N|TEX14_ENST00000240361.8_Missense_Mutation_p.D290N	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN	testis expressed 14	290	Protein kinase.					cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ATTAACAAGTCGGCCAGCCGC	0.557000													40	54					0	0	0.000781405	0	0
TRAV12-2	28673	broad.mit.edu	37	14	22356464	22356464	+	RNA	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr14:22356464C>T	ENST00000390437.2	+	0	227																											GCCATTGCCTCTCTCAACTGC	0.488000													19	37					0	0	0.000958276	0	0
PLXNA3	55558	broad.mit.edu	37	X	153694496	153694496	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:153694496C>T	ENST00000369682.3	+	15	2857	c.2682C>T	c.(2680-2682)atC>atT	p.I894I		NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN	plexin A3	894	IPT/TIG 1.				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCCCTAGGATCGTGTGTGAGA	0.677000													22	26					0	0	0.000295444	0	0
IPO11	51194	broad.mit.edu	37	5	61832575	61832575	+	Silent	SNP	T	T	C			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:61832575T>C	ENST00000325324.6	+	23	2305	c.2136T>C	c.(2134-2136)ggT>ggC	p.G712G	KIF2A_ENST00000509663.2_3'UTR|IPO11_ENST00000409296.3_Silent_p.G752G	NM_016338.4	NP_057422.3	Q9UI26	IPO11_HUMAN	importin 11	712						cytoplasm|nucleus	protein binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		TCATCAATGGTTATATCTTTT	0.239000													19	24					0	0	0.00121646	0	0
MEGF6	1953	broad.mit.edu	37	1	3412483	3412483	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:3412483G>A	ENST00000356575.4	-	30	4068	c.3842C>T	c.(3841-3843)cCg>cTg	p.P1281L	MEGF6_ENST00000294599.4_Missense_Mutation_p.P1046L	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	1281	EGF-like 23.					extracellular region	calcium ion binding			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		GGCTCTCCCCGGGGGGCAGAG	0.687000													4	12					0	0	0.00024832	0	0
C19orf57	79173	broad.mit.edu	37	19	14006280	14006280	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:14006280C>T	ENST00000454313.1	-	3	169	c.111G>A	c.(109-111)ttG>ttA	p.L37L	C19orf57_ENST00000591586.1_Silent_p.L37L|C19orf57_ENST00000346736.2_Silent_p.L37L|C19orf57_ENST00000586783.1_Silent_p.L37L			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	37					multicellular organismal development		protein binding			breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			GTAAACAGCCCAACATGGAAC	0.552000													53	93					0	0	0.000781405	0	0
BTBD11	121551	broad.mit.edu	37	12	108029125	108029125	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:108029125C>T	ENST00000280758.5	+	12	3223	c.2695C>T	c.(2695-2697)Ccc>Tcc	p.P899S	BTBD11_ENST00000357167.4_Missense_Mutation_p.P436S|BTBD11_ENST00000494235.2_5'UTR|BTBD11_ENST00000490090.2_Missense_Mutation_p.P899S|BTBD11_ENST00000420571.2_Missense_Mutation_p.P780S	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	899						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						CTACCCCATCCCCAAGCTCAC	0.547000													30	44					0	0	0.000339439	0	0
NOS3	4846	broad.mit.edu	37	7	150696062	150696062	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr7:150696062G>A	ENST00000297494.3	+	8	1202	c.845G>A	c.(844-846)gGa>gAa	p.G282E	NOS3_ENST00000467517.1_Missense_Mutation_p.G282E|NOS3_ENST00000484524.1_Missense_Mutation_p.G282E|NOS3_ENST00000461406.1_Missense_Mutation_p.G76E	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)	282	Interaction with NOSIP.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	p.G282E(1)		NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	TGGACCCCAGGAAACGGTCGC	0.662000													22	44					0	0	0.000229342	0	0
ABR	29	broad.mit.edu	37	17	914039	914039	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr17:914039C>T	ENST00000544583.2	-	20	2627	c.2028G>A	c.(2026-2028)aaG>aaA	p.K676K	ABR_ENST00000302538.5_Silent_p.K722K|ABR_ENST00000574437.1_Silent_p.K676K|ABR_ENST00000572441.1_Intron|ABR_ENST00000536794.2_Silent_p.K504K|ABR_ENST00000291107.2_Silent_p.K685K|ABR_ENST00000543210.2_Silent_p.K173K	NM_001159746.2	NP_001153218.1	Q12979	ABR_HUMAN	active BCR-related	722	Rho-GAP.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		GGAAGTACAGCTTGAGCGTCC	0.627000													25	45					0	0	0.000375601	0	0
ST8SIA3	51046	broad.mit.edu	37	18	55024677	55024677	+	Missense_Mutation	SNP	G	G	A	rs145545626		TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr18:55024677G>A	ENST00000324000.3	+	3	2870	c.836G>A	c.(835-837)gGa>gAa	p.G279E		NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3	279					glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	p.G279E(1)		breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		GCTTGGCCGGGAAATATAATG	0.408000													44	59					0	0	0.000781405	0	0
KIF2B	84643	broad.mit.edu	37	17	51900733	51900733	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr17:51900733G>A	ENST00000268919.4	+	1	495	c.339G>A	c.(337-339)acG>acA	p.T113T		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	113					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GTACCGCCACGAAATGGGTTG	0.592000													30	54					0	0	0.00106085	0	0
ZNF662	389114	broad.mit.edu	37	3	42956297	42956297	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:42956297G>A	ENST00000541208.1	+	5	1101	c.732G>A	c.(730-732)ggG>ggA	p.G244G	ZNF662_ENST00000440367.2_Silent_p.G244G|ZNF662_ENST00000422021.1_Intron|KRBOX1_ENST00000426937.1_Intron|ZNF662_ENST00000328199.6_Silent_p.G270G			Q6ZS27	ZN662_HUMAN	zinc finger protein 662	244					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		TTCACAGTGGGGTGAAACCCT	0.413000													28	31					0	0	0.00106085	0	0
MTR	4548	broad.mit.edu	37	1	236979789	236979789	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:236979789C>T	ENST00000366577.5	+	8	1104	c.710C>T	c.(709-711)tCc>tTc	p.S237F	MTR_ENST00000418145.2_3'UTR|MTR_ENST00000535889.1_Missense_Mutation_p.S237F	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	237	Hcy-binding.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	CGGACTCTTTCCGGACAGACA	0.408000													127	115					0	0	0.000781405	0	0
WDR6	11180	broad.mit.edu	37	3	49051357	49051357	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:49051357G>A	ENST00000395474.3	+	2	2760	c.2480G>A	c.(2479-2481)gGc>gAc	p.G827D	WDR6_ENST00000448293.1_Missense_Mutation_p.G746D|WDR6_ENST00000415265.2_Missense_Mutation_p.G245D	NM_018031.3	NP_060501.3	Q9NNW5	WDR6_HUMAN	WD repeat domain 6	797					cell cycle arrest|negative regulation of cell proliferation	cytoplasm				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		CCTCAGCCAGGCCTGACTGCC	0.642000											OREG0015565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	25					0	0	0.000219431	0	0
TPK1	27010	broad.mit.edu	37	7	144150682	144150682	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr7:144150682C>T	ENST00000360057.3	-	9	790	c.688G>A	c.(688-690)Gaa>Aaa	p.E230K	TPK1_ENST00000378099.3_Missense_Mutation_p.E181K|TPK1_ENST00000549981.1_3'UTR|TPK1_ENST00000547966.1_5'UTR|TPK1_ENST00000538212.2_Missense_Mutation_p.E176K	NM_022445.3	NP_071890.2	Q9H3S4	TPK1_HUMAN	thiamin pyrophosphokinase 1	230					thiamine diphosphate biosynthetic process	cytosol	ATP binding|kinase activity|thiamine diphosphokinase activity			large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2)	19					Thiamine(DB00152)	TGGTCAGTTTCCACAGTCACA	0.443000													105	62					0	0	0.000781405	0	0
OR52B2	255725	broad.mit.edu	37	11	6191292	6191292	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr11:6191292G>A	ENST00000530810.1	-	1	346	c.265C>T	c.(265-267)Ctt>Ttt	p.L89F	RP11-290F24.3_ENST00000529961.1_RNA	NM_001004052.1	NP_001004052.1	Q96RD2	O52B2_HUMAN	olfactory receptor, family 52, subfamily B, member 2	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGTGCTTGAAGCCAAAAGATG	0.493000													49	41					0	0	0.000781405	0	0
LIPF	8513	broad.mit.edu	37	10	90438385	90438385	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr10:90438385C>T	ENST00000394375.3	+	11	1287	c.1174C>T	c.(1174-1176)Cct>Tct	p.P392S	LIPF_ENST00000238983.4_Missense_Mutation_p.P382S|LIPF_ENST00000355843.2_Missense_Mutation_p.P349S	NM_001198829.1	NP_001185758.1	P07098	LIPG_HUMAN	lipase, gastric	382					lipid catabolic process|triglyceride metabolic process	extracellular region	lipid binding|triglyceride lipase activity			NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6)	13		Colorectal(252;0.0161)		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)		AATGGATGCCCCTCAAGAAGT	0.343000													32	19					0	0	0.000339439	0	0
HR	55806	broad.mit.edu	37	8	21986541	21986541	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr8:21986541G>A	ENST00000381418.4	-	2	1623	c.143C>T	c.(142-144)cCc>cTc	p.P48L	HR_ENST00000312841.8_Missense_Mutation_p.P48L	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	48							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		CCTCCAAAAGGGAGCAGGCTC	0.687000													12	25					0	0	0.00136819	0	0
TUBB1	81027	broad.mit.edu	37	20	57599799	57599799	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr20:57599799G>A	ENST00000217133.1	+	4	1586	c.1317G>A	c.(1315-1317)acG>acA	p.T439T		NM_030773.3	NP_110400.1	Q9H4B7	TBB1_HUMAN	tubulin, beta 1 class VI	439					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16	all_lung(29;0.00711)		Colorectal(105;0.109)		Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	AAGAGGTCACGGAGGAGGCAG	0.443000													6	31					0	0	8.12818e-05	0	0
POTEF	728378	broad.mit.edu	37	2	130878044	130878044	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:130878044C>T	ENST00000357462.5	-	1	138	c.45G>A	c.(43-45)aaG>aaA	p.K15K	POTEF_ENST00000361163.4_Silent_p.K15K|POTEF_ENST00000409914.2_Silent_p.K15K|POTEF_ENST00000360967.5_Silent_p.K15K			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	15						cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						CAAATGGCTTCTTCACAGAAG	0.562000													32	50					0	0	0.000781405	0	0
GCH1	2643	broad.mit.edu	37	14	55310756	55310756	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr14:55310756G>A	ENST00000491895.2	-	6	920	c.732C>T	c.(730-732)ttC>ttT	p.F244F	GCH1_ENST00000395514.1_Silent_p.F244F|GCH1_ENST00000536224.2_Intron|GCH1_ENST00000254299.4_5'UTR|GCH1_ENST00000543643.2_Intron	NM_000161.2	NP_000152.1	P30793	GCH1_HUMAN	GTP cyclohydrolase 1	244					dopamine biosynthetic process|GTP catabolic process|neuromuscular process controlling posture|nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|protein homooligomerization|response to interferon-gamma|response to lipopolysaccharide|response to pain|response to tumor necrosis factor|tetrahydrobiopterin biosynthetic process|tetrahydrofolate biosynthetic process	cytoplasmic vesicle|cytosol|nuclear membrane|protein complex	GTP binding|GTP cyclohydrolase I activity|protein homodimerization activity|zinc ion binding			endometrium(2)|lung(7)|skin(2)	11						TGAGAGTCAGGAACTCTTCCC	0.483000													20	48					0	0	0.000229342	0	0
SPEN	23013	broad.mit.edu	37	1	16256478	16256478	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:16256478C>T	ENST00000375759.3	+	11	3947	c.3743C>T	c.(3742-3744)tCa>tTa	p.S1248L		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1248					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TACAGAAGTTCACGCCAAATC	0.473000													35	42					0	0	0.000692331	0	0
PKN1	5585	broad.mit.edu	37	19	14578389	14578389	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:14578389C>T	ENST00000242783.6	+	13	1909	c.1744C>T	c.(1744-1746)Cag>Tag	p.Q582*	PKN1_ENST00000342216.4_Nonsense_Mutation_p.Q588*	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	582					activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						CTCCCCCATCCAGGAATCCAC	0.662000													9	24					0	0	0.000978159	0	0
PHKA1	5255	broad.mit.edu	37	X	71840728	71840728	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:71840728G>A	ENST00000339490.3	-	19	2284	c.1984C>T	c.(1984-1986)Cgt>Tgt	p.R662C	PHKA1_ENST00000373539.3_Missense_Mutation_p.R662C|PHKA1_ENST00000373545.3_Intron|PHKA1_ENST00000373542.4_Missense_Mutation_p.R662C|PHKA1_ENST00000541944.1_Intron	NM_001122670.1	NP_001116142.1	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	662					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					TCTAAATAACGAGCAACTTCA	0.483000													11	38					0	0	0.000151284	0	0
TTN	7273	broad.mit.edu	37	2	179634502	179634502	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:179634502G>A	ENST00000589042.1	-	37	9030	c.8806C>T	c.(8806-8808)Cat>Tat	p.H2936Y	TTN_ENST00000460472.2_Missense_Mutation_p.H2890Y|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.H2936Y|TTN_ENST00000591111.1_Missense_Mutation_p.H2936Y|TTN_ENST00000342175.6_Missense_Mutation_p.H2890Y|TTN_ENST00000360870.5_Missense_Mutation_p.H2936Y|TTN_ENST00000359218.5_Missense_Mutation_p.H2890Y	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2674	Ig-like 16.						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)			ATCAGCTGATGGAGTTTTCCC	0.478000													70	141					0	0	0.000781405	0	0
GABRB2	2561	broad.mit.edu	37	5	160721128	160721128	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:160721128G>A	ENST00000274547.2	-	11	1716	c.1499C>T	c.(1498-1500)tCc>tTc	p.S500F	GABRB2_ENST00000353437.6_Missense_Mutation_p.S462F|GABRB2_ENST00000517547.1_Missense_Mutation_p.S302F|GABRB2_ENST00000393959.1_Missense_Mutation_p.S500F|GABRB2_ENST00000520240.1_Missense_Mutation_p.S462F|GABRB2_ENST00000517901.1_Missense_Mutation_p.S399F	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	500					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GTTGAAGAAGGAAAAAACCAC	0.473000													20	22					0	0	0.000229342	0	0
ZNF565	147929	broad.mit.edu	37	19	36673547	36673547	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:36673547G>A	ENST00000355114.5	-	5	2167	c.1441C>T	c.(1441-1443)Cac>Tac	p.H481Y	ZNF565_ENST00000392173.2_Missense_Mutation_p.H441Y|ZNF565_ENST00000304116.5_Missense_Mutation_p.H441Y			Q8N9K5	ZN565_HUMAN	zinc finger protein 565	441					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(4)|lung(4)|ovary(1)|skin(2)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.206)			TCACAAGTGTGAATTCGCTGA	0.418000													15	20					0	0	0.000566183	0	0
KAT6A	7994	broad.mit.edu	37	8	41791374	41791374	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr8:41791374G>A	ENST00000396930.3	-	18	4907	c.4364C>T	c.(4363-4365)aCc>aTc	p.T1455I	KAT6A_ENST00000265713.2_Missense_Mutation_p.T1455I|KAT6A_ENST00000406337.1_Missense_Mutation_p.T1455I	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN	K(lysine) acetyltransferase 6A	1455					histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding										ACTCTGCAGGGTCTGACACGC	0.527000													29	64					0	0	0.000409698	0	0
DEC1	50514	broad.mit.edu	37	9	118163567	118163567	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr9:118163567G>A	ENST00000374016.1	+	7	702	c.183G>A	c.(181-183)agG>agA	p.R61R		NM_017418.2	NP_059114.1	Q9P2X7	DEC1_HUMAN	deleted in esophageal cancer 1	61					negative regulation of cell proliferation					kidney(1)|large_intestine(1)|ovary(1)	3						CTCTTGCCAGGCCCAAGGCTG	0.408000													27	11					0	0	0.000339439	0	0
CHRNB4	1143	broad.mit.edu	37	15	78921508	78921508	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr15:78921508G>A	ENST00000261751.3	-	5	1250	c.1139C>T	c.(1138-1140)tCc>tTc	p.S380F	CHRNB4_ENST00000412074.2_Intron	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	380					regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						ATAGAAGTTGGAGGGGCTGGT	0.642000													21	23					0	0	0.000229342	0	0
XIRP2	129446	broad.mit.edu	37	2	168099978	168099978	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:168099978G>A	ENST00000409195.1	+	9	2165	c.2076G>A	c.(2074-2076)gtG>gtA	p.V692V	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Silent_p.V692V|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Silent_p.V470V	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	517					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TCAAGACTGTGAGATACATGT	0.398000													22	35					0	0	0.000229342	0	0
SLC15A2	6565	broad.mit.edu	37	3	121647371	121647371	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:121647371C>T	ENST00000489711.1	+	15	1698	c.1310C>T	c.(1309-1311)tCt>tTt	p.S437F	SLC15A2_ENST00000295605.2_Missense_Mutation_p.S406F|SLC15A2_ENST00000465060.1_3'UTR	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	437					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	GAAAACAATTCTCTGTTGATA	0.428000													44	77					0	0	0.000680045	0	0
SLC12A8	84561	broad.mit.edu	37	3	124810994	124810994	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:124810994G>A	ENST00000423114.2	-	11	1840	c.1841C>T	c.(1840-1842)tCc>tTc	p.S614F	SLC12A8_ENST00000469902.1_Missense_Mutation_p.S585F|SLC12A8_ENST00000430155.2_Missense_Mutation_p.S386F|SLC12A8_ENST00000393469.4_Missense_Mutation_p.S585F|SLC12A8_ENST00000465475.1_Intron|SLC12A8_ENST00000314584.7_Intron			A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	585					potassium ion transport	integral to membrane	symporter activity			endometrium(2)|kidney(2)|lung(12)	16						GAAAGAAGTGGATCTTCTCCA	0.453000													31	55					0	0	0.00058488	0	0
RPS16	6217	broad.mit.edu	37	19	39924197	39924197	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:39924197G>A	ENST00000339471.4	-	3	395	c.355C>T	c.(355-357)Cca>Tca	p.P119S	RPS16_ENST00000599539.1_Missense_Mutation_p.S87F|RPS16_ENST00000251453.3_Missense_Mutation_p.S87F|RPS16_ENST00000601655.1_Missense_Mutation_p.S70F			P62249	RS16_HUMAN	ribosomal protein S16	0					endocrine pancreas development|ribosomal small subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome			central_nervous_system(1)|large_intestine(2)|lung(2)|skin(2)	7	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;4.14e-26)|all cancers(26;2.68e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TTTGGAGATGGACTGACGGAT	0.547000													47	63					0	0	0.000781405	0	0
OR2T4	127074	broad.mit.edu	37	1	248525185	248525185	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:248525185G>A	ENST00000366475.1	+	1	303	c.303G>A	c.(301-303)atG>atA	p.M101I		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	101					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGTCTCTCATGGACATGGCGT	0.502000													63	216					0	0	0.000781405	0	0
ZNF610	162963	broad.mit.edu	37	19	52869803	52869803	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:52869803T>A	ENST00000601151.1	+	5	1495	c.1043T>A	c.(1042-1044)cTt>cAt	p.L348H	ZNF610_ENST00000327920.8_Missense_Mutation_p.L391H|ZNF610_ENST00000321287.8_Missense_Mutation_p.L391H|ZNF610_ENST00000403906.3_Missense_Mutation_p.L391H	NM_001161427.1	NP_001154899.1	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610	391					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		ATGGCCCATCTTCTAATCCAT	0.413000													17	35					0	0	0.00074312	0	0
GAR1	54433	broad.mit.edu	37	4	110745127	110745127	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr4:110745127T>A	ENST00000226796.6	+	6	842	c.578T>A	c.(577-579)tTt>tAt	p.F193Y	GAR1_ENST00000394631.3_Missense_Mutation_p.F193Y	NM_018983.3	NP_061856.1	Q9NY12	GAR1_HUMAN	GAR1 ribonucleoprotein	193	RGG-box 2.				rRNA processing|snRNA pseudouridine synthesis	box H/ACA snoRNP complex|Cajal body	cation channel activity|pseudouridine synthase activity|snoRNA binding			kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	9						TTAGGTGGTTTTAGAGGTGGA	0.313000													71	31					0	0	0.000781405	0	0
ZNF99	7652	broad.mit.edu	37	19	22940851	22940851	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:22940851G>A	ENST00000397104.3	-	5	1586	c.1587C>T	c.(1585-1587)ccC>ccT	p.P529P	ZNF99_ENST00000596209.1_Silent_p.P620P					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				CACATTTGTAGGGTTTCTTTC	0.383000													8	17					0	0	0.000673444	0	0
LRTM2	654429	broad.mit.edu	37	12	1940342	1940342	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:1940342C>T	ENST00000543818.1	+	4	1151	c.309C>T	c.(307-309)ttC>ttT	p.F103F	CACNA2D4_ENST00000382722.5_Intron|CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000586184.1_Intron|LRTM2_ENST00000299194.1_Silent_p.F103F|CACNA2D4_ENST00000588077.1_Intron|CACNA2D4_ENST00000585708.1_Intron|LRTM2_ENST00000535041.1_Silent_p.F103F|LRTM2_ENST00000543730.1_Intron|CACNA2D4_ENST00000587995.1_Intron	NM_001039029.2|NM_001163925.1|NM_001163926.1	NP_001034118.1|NP_001157397.1|NP_001157398.1	Q8N967	LRTM2_HUMAN	leucine-rich repeats and transmembrane domains 2	103						integral to membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			CCAACAACTTCCTGGACCGGC	0.592000													18	40					0	0	0.00074312	0	0
NUP93	9688	broad.mit.edu	37	16	56866247	56866247	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr16:56866247C>T	ENST00000564887.1	+	10	1552	c.923C>T	c.(922-924)cCa>cTa	p.P308L	NUP93_ENST00000308159.5_Missense_Mutation_p.P431L|NUP93_ENST00000569842.1_Missense_Mutation_p.P431L|NUP93_ENST00000542526.1_Missense_Mutation_p.P308L	NM_001242795.1	NP_001229724.1	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	431					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						ACCAGCTCCCCACAAGACAGG	0.473000													21	51					0	0	0.000720815	0	0
GTF3C5	9328	broad.mit.edu	37	9	135919250	135919250	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr9:135919250C>T	ENST00000372097.5	+	3	832	c.509C>T	c.(508-510)cCa>cTa	p.P170L	GTF3C5_ENST00000342018.8_Missense_Mutation_p.P170L|GTF3C5_ENST00000372108.5_Missense_Mutation_p.P170L|GTF3C5_ENST00000372099.6_Missense_Mutation_p.P161L|GTF3C5_ENST00000485692.1_3'UTR|GTF3C5_ENST00000372095.5_Missense_Mutation_p.P45L	NM_012087.3	NP_036219.2	Q9Y5Q8	TF3C5_HUMAN	general transcription factor IIIC, polypeptide 5, 63kDa	170						transcription factor TFIIIC complex	DNA binding|protein binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		TACATCCCCCCACCCATCTTC	0.617000													11	15					0	0	0.000978159	0	0
GTF2E2	2961	broad.mit.edu	37	8	30511065	30511065	+	Silent	SNP	A	A	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr8:30511065A>T	ENST00000355904.4	-	2	333	c.51T>A	c.(49-51)ctT>ctA	p.L17L		NM_002095.4	NP_002086.1	P29084	T2EB_HUMAN	general transcription factor IIE, polypeptide 2, beta 34kDa	17					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	transcription factor TFIIE complex	DNA binding|protein binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.113)|Kidney(114;0.135)		CAGGAGTAGAAAGAGCTCGTT	0.383000													25	39					0	0	0.000375601	0	0
PCDHGA8	9708	broad.mit.edu	37	5	140774627	140774627	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:140774627C>T	ENST00000398604.2	+	1	2247	c.2247C>T	c.(2245-2247)ttC>ttT	p.F749F	PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_032088.1	NP_114477.1														endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TACAGGCTTTCCTGCAGACCT	0.582000													34	23					0	0	0.000339439	0	0
CCIN	881	broad.mit.edu	37	9	36170052	36170052	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr9:36170052C>T	ENST00000335119.2	+	1	664	c.553C>T	c.(553-555)Cgt>Tgt	p.R185C		NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	calicin	185	BACK.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			CCGCCTGCTCCGTGATGAAAA	0.532000													24	12					0	0	0.00047179	0	0
AKR1C2	1646	broad.mit.edu	37	10	5042641	5042641	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr10:5042641C>T	ENST00000455190.1	-	4	406	c.381G>A	c.(379-381)ggG>ggA	p.G127G	AKR1C2_ENST00000380753.4_Intron|AKR1C2_ENST00000421196.3_Intron|AKR1C2_ENST00000407674.1_Intron	NM_001135241.2	NP_001128713.1	P52895	AK1C2_HUMAN	aldo-keto reductase family 1, member C2	0					digestion|prostaglandin metabolic process|steroid metabolic process	cytoplasm	androsterone dehydrogenase (A-specific) activity|bile acid binding|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity			breast(1)|large_intestine(5)|lung(3)|skin(1)	10					NADH(DB00157)|Ursodeoxycholic acid(DB01586)	ATGTTAAAATCCCTATGTCCT	0.348000													7	5					0	0	8.12818e-05	0	0
ZNF610	162963	broad.mit.edu	37	19	52869701	52869701	+	Missense_Mutation	SNP	C	C	T	rs148016576	byFrequency	TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:52869701C>T	ENST00000601151.1	+	5	1393	c.941C>T	c.(940-942)tCa>tTa	p.S314L	ZNF610_ENST00000327920.8_Missense_Mutation_p.S357L|ZNF610_ENST00000321287.8_Missense_Mutation_p.S357L|ZNF610_ENST00000403906.3_Missense_Mutation_p.S357L	NM_001161427.1	NP_001154899.1	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610	357					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		AGTCTGCTTTCATACCTTGCA	0.423000													21	49					0	0	0.00047179	0	0
NT5C1B	93034	broad.mit.edu	37	2	18757621	18757621	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:18757621C>T	ENST00000304081.4	-	8	1258	c.1158G>A	c.(1156-1158)gcG>gcA	p.A386A	NT5C1B-RDH14_ENST00000532967.1_Silent_p.A446A|NT5C1B_ENST00000359846.2_Silent_p.A446A|NT5C1B_ENST00000600945.1_Silent_p.A446A	NM_033253.3	NP_150278.2			5'-nucleotidase, cytosolic IB											endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				CAAACATTGTCGCAGAGGCAA	0.428000													9	35					0	0	0.000274275	0	0
KRT85	3891	broad.mit.edu	37	12	52760976	52760976	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:52760976G>A	ENST00000257901.3	-	1	289	c.214C>T	c.(214-216)Cga>Tga	p.R72*		NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	72	Head.				epidermis development	keratin filament	protein binding|structural molecule activity			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		GAGCCGGCTCGGAAGCCACCT	0.697000													12	21					0	0	0.00136819	0	0
SCN9A	6335	broad.mit.edu	37	2	167129157	167129157	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:167129157C>T	ENST00000303354.6	-	17	3446	c.3106G>A	c.(3106-3108)Gaa>Aaa	p.E1036K	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000375387.4_Missense_Mutation_p.E1036K|SCN9A_ENST00000409435.1_Missense_Mutation_p.E1035K|SCN9A_ENST00000409672.1_Missense_Mutation_p.E1024K			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1035						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	ATATAGTTTTCCTTCTTAGTA	0.353000													18	34					0	0	0.00074312	0	0
DRP2	1821	broad.mit.edu	37	X	100490968	100490968	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:100490968G>A	ENST00000395209.3	+	4	764	c.237G>A	c.(235-237)atG>atA	p.M79I	DRP2_ENST00000541709.1_Start_Codon_SNP_p.M1I|DRP2_ENST00000402866.1_Missense_Mutation_p.M79I|DRP2_ENST00000538510.1_Missense_Mutation_p.M79I	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	79					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						CACCAGCCATGAATCTGTGTT	0.517000													47	117					0	0	0.000781405	0	0
SDR42E1	93517	broad.mit.edu	37	16	82033683	82033683	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr16:82033683T>C	ENST00000328945.5	-	3	342	c.215A>G	c.(214-216)gAc>gGc	p.D72G	SDR42E1_ENST00000534209.1_5'UTR	NM_145168.2	NP_660151.2	Q8WUS8	D42E1_HUMAN	short chain dehydrogenase/reductase family 42E, member 1	72					steroid biosynthetic process	integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding			NS(2)|endometrium(1)|lung(4)|skin(3)	10						ACAAGTGACGTCTGCATCCTG	0.493000													52	57					0	0	0.000781405	0	0
BLK	640	broad.mit.edu	37	8	11415549	11415549	+	Splice_Site	SNP	T	T	C			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr8:11415549T>C	ENST00000259089.4	+	10	1621		c.e10+2		BLK_ENST00000529894.1_Splice_Site	NM_001715.2	NP_001706.2	P51451	BLK_HUMAN	B lymphoid tyrosine kinase						intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		TCGGCGCAGGTTGGTGAAGTA	0.547000													19	11					0	0	0.00121646	0	0
GPR112	139378	broad.mit.edu	37	X	135430106	135430106	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:135430106C>T	ENST00000394143.1	+	6	4532	c.4241C>T	c.(4240-4242)tCa>tTa	p.S1414L	GPR112_ENST00000412101.1_Missense_Mutation_p.S1209L|GPR112_ENST00000394141.1_Missense_Mutation_p.S1209L|GPR112_ENST00000370652.1_Missense_Mutation_p.S1414L|GPR112_ENST00000287534.4_Missense_Mutation_p.S1351L	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1414					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)					CAGGATACTTCATTTGTAGAT	0.428000													38	81					0	0	0.000814825	0	0
OBSL1	23363	broad.mit.edu	37	2	220431639	220431639	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:220431639G>A	ENST00000404537.1	-	5	2103	c.2047C>T	c.(2047-2049)Ctg>Ttg	p.L683L	OBSL1_ENST00000265318.4_Silent_p.L683L|OBSL1_ENST00000603926.1_Silent_p.L683L|OBSL1_ENST00000373873.4_Silent_p.L683L|OBSL1_ENST00000373876.1_Silent_p.L683L|OBSL1_ENST00000289656.3_Silent_p.L270L	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	683					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)		ACGGCATGCAGGATGAGTCTG	0.622000													20	26					0	0	0.000229342	0	0
SLC26A3	1811	broad.mit.edu	37	7	107434305	107434305	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr7:107434305C>T	ENST00000340010.5	-	3	337	c.153G>A	c.(151-153)aaG>aaA	p.K51K	SLC26A3_ENST00000422236.2_Intron	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	51					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	p.K51K(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						GGACAATTCTCTTGGCCTTTT	0.423000													37	33					0	0	0.00111076	0	0
PPP3CA	5530	broad.mit.edu	37	4	102117259	102117259	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr4:102117259G>A	ENST00000394854.3	-	2	756	c.73C>T	c.(73-75)Cca>Tca	p.P25S	PPP3CA_ENST00000323055.6_Missense_Mutation_p.P25S|PPP3CA_ENST00000512215.1_Missense_Mutation_p.P25S|PPP3CA_ENST00000507176.1_Intron|PPP3CA_ENST00000394853.4_Missense_Mutation_p.P25S|PPP3CA_ENST00000523694.2_Intron	NM_000944.4	NP_000935.1	Q08209	PP2BA_HUMAN	protein phosphatase 3, catalytic subunit, alpha isozyme	25	Catalytic.				protein dephosphorylation	calcineurin complex|cytosol|nucleus	calcium ion binding|calmodulin binding			breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)		CGGTGACTTGGAGGAAATGGA	0.393000													12	11					0	0	0.00136819	0	0
NDRG4	65009	broad.mit.edu	37	16	58538325	58538325	+	Splice_Site	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr16:58538325G>A	ENST00000394282.4	+	6	874	c.467_splice	c.e6+1	p.G156_splice	NDRG4_ENST00000394279.2_Splice_Site_p.G136_splice|NDRG4_ENST00000356752.4_Splice_Site_p.G134_splice|NDRG4_ENST00000569923.1_Splice_Site_p.G49_splice|NDRG4_ENST00000563799.1_Splice_Site_p.G122_splice|NDRG4_ENST00000568640.1_Splice_Site_p.G122_splice|NDRG4_ENST00000566192.1_Splice_Site_p.G104_splice|NDRG4_ENST00000562999.1_Splice_Site_p.G104_splice|NDRG4_ENST00000258187.5_Splice_Site_p.G136_splice|NDRG4_ENST00000570248.1_Splice_Site_p.G104_splice	NM_001130487.1	NP_001123959.1	Q9ULP0	NDRG4_HUMAN	NDRG family member 4	104					cell differentiation|cell growth|multicellular organismal development|response to stress	cytoplasm				breast(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11						CAGCATTTCGGGTGAGTCCCC	0.682000													24	33					0	0	0.001512	0	0
EML5	161436	broad.mit.edu	37	14	89206850	89206850	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr14:89206850G>A	ENST00000554922.1	-	5	840	c.592C>T	c.(592-594)Cag>Tag	p.Q198*	EML5_ENST00000380664.5_Nonsense_Mutation_p.Q198*|EML5_ENST00000352093.5_Nonsense_Mutation_p.Q198*	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	198						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						AGTATTGTCTGAAGGTCACCC	0.393000													52	94					0	0	0.000781405	0	0
PCDHB4	56131	broad.mit.edu	37	5	140502954	140502954	+	Silent	SNP	C	C	T	rs148427211		TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:140502954C>T	ENST00000194152.1	+	1	1374	c.1374C>T	c.(1372-1374)ttC>ttT	p.F458F		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		458	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	p.F458F(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACACCCTGTTCGTCCGCGAGA	0.627000													22	53					0	0	0.000409698	0	0
ZNF721	170960	broad.mit.edu	37	4	438156	438156	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr4:438156G>A	ENST00000338977.5	-	2	112	c.64C>T	c.(64-66)Ctt>Ttt	p.L22F	ZNF721_ENST00000507078.1_Intron|ZNF721_ENST00000511833.2_Missense_Mutation_p.L34F|ZNF721_ENST00000506646.1_Missense_Mutation_p.L66F|ABCA11P_ENST00000451020.2_RNA					zinc finger protein 721											endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						CTCAGTATAAGTTTGTGGAAT	0.348000													43	33					0	0	0.00170553	0	0
PCLO	27445	broad.mit.edu	37	7	82584970	82584970	+	Missense_Mutation	SNP	A	A	C			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr7:82584970A>C	ENST00000423517.2	-	5	5636	c.5299T>G	c.(5299-5301)Ttg>Gtg	p.L1767V	PCLO_ENST00000333891.8_Missense_Mutation_p.L1767V	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1698					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ATAGTAGGCAAAAGAGGGCCA	0.433000													48	167					0	0	0.000781405	0	0
MLXIPL	51085	broad.mit.edu	37	7	73012022	73012022	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr7:73012022G>A	ENST00000313375.3	-	9	1140	c.1093C>T	c.(1093-1095)Ccc>Tcc	p.P365S	MLXIPL_ENST00000354613.1_Missense_Mutation_p.P365S|MLXIPL_ENST00000395189.1_Missense_Mutation_p.P272S|MLXIPL_ENST00000414749.2_Missense_Mutation_p.P365S|MLXIPL_ENST00000429400.2_Missense_Mutation_p.P365S|MLXIPL_ENST00000434326.1_Missense_Mutation_p.P272S	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	WBS14_HUMAN	MLX interacting protein-like	365					anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				GAGTCCAAGGGGCCAGGGCAG	0.647000													21	23					0	0	0.000586117	0	0
SVEP1	79987	broad.mit.edu	37	9	113192603	113192603	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr9:113192603G>A	ENST00000401783.2	-	33	5817	c.5481C>T	c.(5479-5481)atC>atT	p.I1827I	SVEP1_ENST00000374469.1_Silent_p.I1804I	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1827	Sushi 7.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CCAAACATGTGATTTTGGTTA	0.398000													10	6					0	0	0.000978159	0	0
ZSCAN25	221785	broad.mit.edu	37	7	99221679	99221679	+	Splice_Site	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr7:99221679G>A	ENST00000394152.2	+	7	1008		c.e7-1		ZSCAN25_ENST00000262941.6_Intron|ZSCAN25_ENST00000466948.1_Intron|ZSCAN25_ENST00000334715.3_Splice_Site	NM_145115.2	NP_660090.2			zinc finger and SCAN domain containing 25																		TATTGTTGCAGGGGTTGGGGC	0.512000													44	96					0	0	0.000781405	0	0
ZNF470	388566	broad.mit.edu	37	19	57085765	57085765	+	Silent	SNP	T	T	C			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:57085765T>C	ENST00000330619.8	+	4	749	c.63T>C	c.(61-63)ggT>ggC	p.G21G	ZNF470_ENST00000601902.1_Silent_p.G21G|ZNF470_ENST00000391709.3_Silent_p.G21G	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	21					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		CATTTTAGGGTTCAGTGACTT	0.403000													15	42					0	0	0.00074312	0	0
GPR98	84059	broad.mit.edu	37	5	89949088	89949088	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:89949088C>T	ENST00000405460.2	+	20	3793	c.3697C>T	c.(3697-3699)Cca>Tca	p.P1233S		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1233					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AGTAATGGTTCCATTCAATGA	0.423000													12	28					0	0	0.000978159	0	0
PCLO	27445	broad.mit.edu	37	7	82785303	82785303	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr7:82785303C>T	ENST00000423517.2	-	2	991	c.654G>A	c.(652-654)ccG>ccA	p.P218P	PCLO_ENST00000333891.8_Silent_p.P218P	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	218	Gln-rich.|Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.P218P(2)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GCTTAGGAATCGGCTTGGGTG	0.448000													26	15					0	0	0.00106085	0	0
DEC1	50514	broad.mit.edu	37	9	118162656	118162656	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr9:118162656G>A	ENST00000374016.1	+	6	551	c.32G>A	c.(31-33)tGg>tAg	p.W11*		NM_017418.2	NP_059114.1	Q9P2X7	DEC1_HUMAN	deleted in esophageal cancer 1	11					negative regulation of cell proliferation					kidney(1)|large_intestine(1)|ovary(1)	3						gctgggaagtggaagagcatt	0.438000													20	16					0	0	0.00152264	0	0
C9orf135	138255	broad.mit.edu	37	9	72471531	72471531	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr9:72471531G>A	ENST00000377197.3	+	3	409	c.322G>A	c.(322-324)Gaa>Aaa	p.E108K	C9orf135_ENST00000527647.1_Missense_Mutation_p.E108K|C9orf135_ENST00000466872.2_3'UTR	NM_001010940.1	NP_001010940.1	Q5VTT2	CI135_HUMAN	chromosome 9 open reading frame 135	108						integral to membrane				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7						AGAATGGGTTGAAATGAAGAG	0.338000													19	13					0	0	0.00152264	0	0
ERN1	2081	broad.mit.edu	37	17	62137861	62137861	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr17:62137861G>A	ENST00000433197.2	-	11	1269	c.1174C>T	c.(1174-1176)Cct>Tct	p.P392S		NM_001433.3	NP_001424.3	O75460	ERN1_HUMAN	endoplasmic reticulum to nucleus signaling 1	392					activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						GAATCAGCAGGAATCACATTT	0.483000													31	59					0	0	0.000814825	0	0
ZNF519	162655	broad.mit.edu	37	18	14124377	14124377	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr18:14124377C>T	ENST00000589498.1	-	2	252	c.102G>A	c.(100-102)ttG>ttA	p.L34L	ZNF519_ENST00000589203.1_Intron|ZNF519_ENST00000590202.1_Silent_p.L34L			Q8TB69	ZN519_HUMAN	zinc finger protein 519	34	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						TGTAGTTCTCCAACATCACAT	0.403000													5	42					0	0	0.000602214	0	0
PASK	23178	broad.mit.edu	37	2	242075323	242075323	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:242075323G>A	ENST00000403638.3	-	8	1360	c.1269C>T	c.(1267-1269)gaC>gaT	p.D423D	PASK_ENST00000544142.1_Silent_p.D237D|PASK_ENST00000539818.1_Silent_p.D207D|PASK_ENST00000234040.4_Silent_p.D423D|PASK_ENST00000358649.4_Silent_p.D423D|PASK_ENST00000405260.1_Silent_p.D423D	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	423					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		CCTGCCACGGGTCCAAGGTTC	0.627000													38	52					0	0	0.00111076	0	0
FAM47A	158724	broad.mit.edu	37	X	34148503	34148503	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:34148503A>T	ENST00000346193.3	-	1	1944	c.1893T>A	c.(1891-1893)ttT>ttA	p.F631L		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	631										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						ACTTGGGGGTAAAGTCAAACA	0.438000													30	43					0	0	0.001512	0	0
TRPM4	54795	broad.mit.edu	37	19	49671865	49671865	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:49671865T>G	ENST00000252826.5	+	6	794	c.668T>G	c.(667-669)tTt>tGt	p.F223C	TRPM4_ENST00000355712.5_5'UTR|TRPM4_ENST00000427978.2_Missense_Mutation_p.F223C	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	223					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		GGGGTCCAGTTTCCCCTGGAC	0.662000													9	23					0	0	0.000673444	0	0
PCNP	57092	broad.mit.edu	37	3	101311501	101311501	+	Missense_Mutation	SNP	C	C	T	rs17851951		TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:101311501C>T	ENST00000296024.5	+	4	405	c.385C>T	c.(385-387)Ctt>Ttt	p.L129F	PCNP_ENST00000469941.1_Silent_p.S24S|PCNP_ENST00000265260.3_Silent_p.S147S|PCNP_ENST00000486406.1_3'UTR			Q8WW12	PCNP_HUMAN	PEST proteolytic signal containing nuclear protein	0					cell cycle|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	nucleus	protein binding			large_intestine(1)|lung(1)	2						GACCAAACTCCTTCAATAAAG	0.333000													28	51					0	0	0.00058488	0	0
SPTBN5	51332	broad.mit.edu	37	15	42171653	42171653	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr15:42171653A>G	ENST00000320955.6	-	16	3214	c.2987T>C	c.(2986-2988)cTg>cCg	p.L996P		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	996					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)		ACTGTGTGCCAGCTGCACGGC	0.637000													4	1					0	0	0.00024832	0	0
FAM135B	51059	broad.mit.edu	37	8	139165229	139165229	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr8:139165229C>T	ENST00000395297.1	-	13	1659	c.1489G>A	c.(1489-1491)Gaa>Aaa	p.E497K		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	497										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			ACCTGAGATTCAGAGCACATG	0.418000										HNSCC(54;0.14)			42	58					0	0	0.00128727	0	0
RINL	126432	broad.mit.edu	37	19	39362287	39362287	+	Splice_Site	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:39362287C>T	ENST00000340740.3	-	6	496	c.109_splice	c.e6+1	p.D37_splice	RINL_ENST00000598904.1_Splice_Site_p.D37_splice|RINL_ENST00000591812.1_Splice_Site_p.D151_splice|CTC-360G5.6_ENST00000593830.1_RNA	NM_001195833.1|NM_198445.3	NP_001182762.1|NP_940847.1	Q6ZS11	RINL_HUMAN	Ras and Rab interactor-like	37							GTPase activator activity			endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|urinary_tract(2)	17						CGTGCCTCACCTGTGTGTTCA	0.562000													15	57					0	0	0.000422831	0	0
DSCAM	1826	broad.mit.edu	37	21	42080671	42080671	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr21:42080671G>A	ENST00000400454.1	-	2	547	c.70C>T	c.(70-72)Ctc>Ttc	p.L24F		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	24					cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				ACAAAGTAGAGGCTGGAGTGT	0.517000													33	65					0	0	0.000692331	0	0
MAP3K3	4215	broad.mit.edu	37	17	61768530	61768530	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr17:61768530C>T	ENST00000361357.3	+	14	1692	c.1374C>T	c.(1372-1374)taC>taT	p.Y458Y	MAP3K3_ENST00000579585.1_Silent_p.Y458Y|MAP3K3_ENST00000577395.1_Silent_p.Y423Y|MAP3K3_ENST00000361733.3_Silent_p.Y427Y|MAP3K3_ENST00000584573.1_Silent_p.Y454Y	NM_203351.1	NP_976226.1	Q99759	M3K3_HUMAN	mitogen-activated protein kinase kinase kinase 3	427	Protein kinase.				MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation	cytosol	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						TCGTGCAGTACTATGGCTGTC	0.562000													17	31					0	0	0.000958276	0	0
CD53	963	broad.mit.edu	37	1	111437015	111437015	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:111437015G>A	ENST00000271324.5	+	4	431	c.319G>A	c.(319-321)Gaa>Aaa	p.E107K	CD53_ENST00000429072.2_Missense_Mutation_p.E107K|CD53_ENST00000497404.1_3'UTR	NM_000560.3|NM_001040033.1	NP_000551.1|NP_001035122.1	P19397	CD53_HUMAN	CD53 molecule	107					signal transduction	integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	17		all_cancers(81;1.06e-05)|all_epithelial(167;1.95e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0264)|Colorectal(144;0.0375)|all cancers(265;0.11)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.141)|LUSC - Lung squamous cell carcinoma(189;0.144)		CTTTGTATATGAACAGAAGGT	0.408000													22	59					0	0	0.00047179	0	0
MYO15A	51168	broad.mit.edu	37	17	18022911	18022911	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr17:18022911C>T	ENST00000205890.5	+	2	1135	c.797C>T	c.(796-798)cCc>cTc	p.P266L		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	266	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GGCCTCGGCCCCTACAGCCCG	0.642000													11	23					0	0	0.00136819	0	0
KIF17	57576	broad.mit.edu	37	1	20996944	20996944	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:20996944G>A	ENST00000247986.2	-	13	3073	c.2763C>T	c.(2761-2763)acC>acT	p.T921T	KIF17_ENST00000400463.3_Silent_p.T920T|KIF17_ENST00000375044.1_Silent_p.T821T|KIF17_ENST00000490034.1_5'UTR			Q9P2E2	KIF17_HUMAN	kinesin family member 17	921					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		CTGCTGCAGAGGTTTTGCGGG	0.597000													23	55					0	0	0.00106085	0	0
PHYH	5264	broad.mit.edu	37	10	13323103	13323103	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr10:13323103G>A	ENST00000396920.3	-	8	1189	c.785C>T	c.(784-786)tCc>tTc	p.S262F	PHYH_ENST00000396913.2_Missense_Mutation_p.S179F|PHYH_ENST00000263038.4_Missense_Mutation_p.S279F			O14832	PAHX_HUMAN	phytanoyl-CoA 2-hydroxylase	279					fatty acid alpha-oxidation|nervous system development	peroxisomal matrix	electron carrier activity|L-ascorbic acid binding|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|phytanoyl-CoA dioxygenase activity|protein binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	25		Ovarian(717;0.0448)			Antihemophilic Factor(DB00025)|Vitamin C(DB00126)	GAAATGGCAGGAAATTGCCTG	0.403000													21	11					0	0	0.00121646	0	0
CAPN12	147968	broad.mit.edu	37	19	39232476	39232476	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:39232476G>A	ENST00000328867.4	-	4	809	c.501C>T	c.(499-501)ttC>ttT	p.F167F	CAPN12_ENST00000601953.1_Silent_p.F18F	NM_144691.3	NP_653292.2	Q6ZSI9	CAN12_HUMAN	calpain 12	167	Calpain catalytic.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			CCGAGCGCACGAACATCAGCT	0.632000													10	19					0	0	0.000673444	0	0
TCTE1	202500	broad.mit.edu	37	6	44253959	44253959	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:44253959G>A	ENST00000371505.4	-	3	710	c.588C>T	c.(586-588)ttC>ttT	p.F196F	TCTE1_ENST00000371503.3_Silent_p.F43F|TCTE1_ENST00000371504.1_Silent_p.F43F|TMEM151B_ENST00000438774.2_Intron	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	196										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CCGGCGGAAGGAACTGATCGA	0.647000													18	30					0	0	0.00121646	0	0
MIR1283-1	100302265	broad.mit.edu	37	19	54191781	54191781	+	RNA	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:54191781G>A	ENST00000408494.1	+	0	47					NR_031573.1																						TTGTCAGAAAGAAGAGAAAGC	0.423000													20	40					0	0	0.000295444	0	0
KRTAP10-9	386676	broad.mit.edu	37	21	46047570	46047570	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr21:46047570C>T	ENST00000397911.3	+	1	531	c.482C>T	c.(481-483)tCa>tTa	p.S161L	TSPEAR_ENST00000323084.4_Intron|KRTAP10-9_ENST00000484861.1_Intron	NM_198690.2	NP_941963.2	P60411	KR109_HUMAN	keratin associated protein 10-9	161	25 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						GATTCCTATTCATGCTGCCAA	0.602000													46	112					0	0	0.000781405	0	0
ZNF573	126231	broad.mit.edu	37	19	38229711	38229711	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:38229711C>T	ENST00000339503.4	-	8	2007	c.1506G>A	c.(1504-1506)ggG>ggA	p.G502G	ZNF573_ENST00000536220.1_Silent_p.G472G|ZNF573_ENST00000357309.3_Silent_p.G472G|ZNF573_ENST00000392138.1_Silent_p.G473G|ZNF573_ENST00000590414.2_Silent_p.G560G	NM_152360.3	NP_689573.3	Q86YE8	ZN573_HUMAN	zinc finger protein 573	540					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			TAAAGGTCTTCCCACATTCCT	0.338000													30	32					0	0	0.000409698	0	0
GPRC6A	222545	broad.mit.edu	37	6	117116901	117116901	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:117116901G>A	ENST00000310357.3	-	5	1667	c.1646C>T	c.(1645-1647)cCt>cTt	p.P549L	GPRC6A_ENST00000368549.3_Missense_Mutation_p.P478L|GPRC6A_ENST00000530250.1_Missense_Mutation_p.P374L	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	549					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		ATGATTTTCAGGACAGTTCTG	0.358000													24	47					0	0	0.000720815	0	0
TRANK1	9881	broad.mit.edu	37	3	36899226	36899226	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:36899226G>A	ENST00000301807.6	-	12	2102	c.205C>T	c.(205-207)Cac>Tac	p.H69Y	TRANK1_ENST00000428977.2_Missense_Mutation_p.H69Y|TRANK1_ENST00000429976.2_Missense_Mutation_p.H619Y	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	619					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TTCCCCAGGTGGGCAGCAGAG	0.567000													39	75					0	0	0.00128727	0	0
THSD7B	80731	broad.mit.edu	37	2	138400065	138400065	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:138400065G>A	ENST00000409968.1	+	21	3985	c.3807G>A	c.(3805-3807)atG>atA	p.M1269I	THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.M1272I|THSD7B_ENST00000413152.2_Missense_Mutation_p.M1241I					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TAGGTCGAATGAGCCGGACTC	0.483000													36	83					0	0	0.00111076	0	0
KIF26B	55083	broad.mit.edu	37	1	245775268	245775268	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:245775268G>A	ENST00000366518.4	+	6	1049	c.945G>A	c.(943-945)ggG>ggA	p.G315G	KIF26B_ENST00000407071.2_Silent_p.G696G			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	696					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			AGAAGAGCGGGAAAGGGGGAA	0.587000													11	39					0	0	0.000151284	0	0
MIB2	142678	broad.mit.edu	37	1	1565078	1565078	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:1565078C>T	ENST00000357210.4	+	19	3013	c.2797C>T	c.(2797-2799)Cgc>Tgc	p.R933C	MIB2_ENST00000378710.3_Missense_Mutation_p.R897C|MIB2_ENST00000518681.1_Missense_Mutation_p.R925C|MIB2_ENST00000355826.5_Missense_Mutation_p.R976C|MIB2_ENST00000505820.2_Missense_Mutation_p.R990C|MIB2_ENST00000504599.1_Missense_Mutation_p.R889C|MIB2_ENST00000378712.1_Missense_Mutation_p.A749V|MIB2_ENST00000378708.1_Missense_Mutation_p.R839C|MIB2_ENST00000360522.4_Missense_Mutation_p.R898C|MIB2_ENST00000520777.1_Missense_Mutation_p.R986C	NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN	mindbomb E3 ubiquitin protein ligase 2	933					Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CAAGAAACTGCGCCCAGGTGG	0.682000													6	8					0	0	0.000157383	0	0
NF1	4763	broad.mit.edu	37	17	29665142	29665142	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr17:29665142C>T	ENST00000358273.4	+	45	7187	c.6804C>T	c.(6802-6804)atC>atT	p.I2268I	NF1_ENST00000356175.3_Silent_p.I2247I|NF1_ENST00000444181.2_Silent_p.I61I|NF1_ENST00000417592.2_Intron	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2268					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AGCAGATAATCCGTATTCTTA	0.388000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			47	79					0	0	0.000781405	0	0
MYO1D	4642	broad.mit.edu	37	17	31039087	31039087	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr17:31039087G>A	ENST00000318217.5	-	16	2344	c.2040C>T	c.(2038-2040)ttC>ttT	p.F680F	MYO1D_ENST00000394649.4_Silent_p.F592F|MYO1D_ENST00000579584.1_Silent_p.F680F	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	680	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			GTGTTCGAATGAAAATTTTGG	0.403000													78	85					0	0	0.000781405	0	0
CASR	846	broad.mit.edu	37	3	121976192	121976192	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:121976192C>T	ENST00000498619.1	+	3	888	c.450C>T	c.(448-450)tcC>tcT	p.S150S	CASR_ENST00000490131.1_Silent_p.S150S|CASR_ENST00000296154.5_Silent_p.S150S	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	150					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CAGGCGTCTCCACGGCAGTGG	0.532000													25	36					0	0	0.00106085	0	0
OR5AU1	390445	broad.mit.edu	37	14	21623432	21623432	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr14:21623432G>A	ENST00000304418.3	-	1	790	c.753C>T	c.(751-753)ttC>ttT	p.F251F		NM_001004731.1	NP_001004731.1	Q8NGC0	O5AU1_HUMAN	olfactory receptor, family 5, subfamily AU, member 1	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1)	21	all_cancers(95;0.00238)		Epithelial(56;6.88e-07)|all cancers(55;6.02e-06)	GBM - Glioblastoma multiforme(265;0.0192)		CAGCAAAAATGAAGAGCAGGA	0.488000													21	28					0	0	0.000295444	0	0
PCDHGA2	56113	broad.mit.edu	37	5	140718655	140718655	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:140718655C>T	ENST00000394576.2	+	1	117	c.117C>T	c.(115-117)atC>atT	p.I39I	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)			GGGAAGAGATCGACAGAGGCT	0.607000											OREG0016854	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	36					0	0	0.000566183	0	0
ARHGEF16	27237	broad.mit.edu	37	1	3397060	3397060	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:3397060C>T	ENST00000378378.4	+	15	2444	c.2039C>T	c.(2038-2040)cCc>cTc	p.P680L	ARHGEF16_ENST00000413250.2_Missense_Mutation_p.P384L|ARHGEF16_ENST00000378371.2_Missense_Mutation_p.P392L|ARHGEF16_ENST00000378373.1_Missense_Mutation_p.P392L	NM_014448.3	NP_055263.2	Q5VV41	ARHGG_HUMAN	Rho guanine nucleotide exchange factor (GEF) 16	680	SH3.				activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity			lung(6)|ovary(1)	7	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		GGATGGTTCCCCGAGGACTTT	0.677000													11	27					0	0	0.000151284	0	0
CD1E	913	broad.mit.edu	37	1	158325209	158325209	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:158325209C>T	ENST00000444681.2	+	2	471	c.178C>T	c.(178-180)Cca>Tca	p.P60S	CD1E_ENST00000452291.2_Intron|CD1E_ENST00000434258.1_Missense_Mutation_p.P157S|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368156.1_Intron|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368160.3_Missense_Mutation_p.P159S|CD1E_ENST00000368161.3_Missense_Mutation_p.P159S|CD1E_ENST00000368155.3_Intron|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000368163.3_Missense_Mutation_p.P159S|CD1E_ENST00000368167.3_Missense_Mutation_p.P159S|CD1E_ENST00000368165.3_Intron|CD1E_ENST00000368164.3_Intron	NM_001185114.1	NP_001172043.1	P15812	CD1E_HUMAN	CD1e molecule	159					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					GGAGCCATCTCCAGGAGCAGG	0.468000													27	55					0	0	0.00127121	0	0
EFTUD1	79631	broad.mit.edu	37	15	82456243	82456243	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr15:82456243G>A	ENST00000268206.7	-	16	2001	c.1833C>T	c.(1831-1833)aaC>aaT	p.N611N	EFTUD1_ENST00000359445.3_Silent_p.N560N	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain containing 1	611					mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						TGGCTTCGAAGTTGAGTGGTA	0.388000													12	32					0	0	0.000219431	0	0
ARHGEF2	9181	broad.mit.edu	37	1	155920998	155920998	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:155920998C>T	ENST00000368316.1	-	24	2711	c.2241G>A	c.(2239-2241)gaG>gaA	p.E747E	ARHGEF2_ENST00000368315.3_Silent_p.E776E|ARHGEF2_ENST00000361247.4_Silent_p.E775E|ARHGEF2_ENST00000313667.4_Silent_p.E774E|ARHGEF2_ENST00000313695.7_Silent_p.E747E			Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	775					actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					GGCACAGCTTCTCCCGCCGCT	0.642000													7	17					0	0	8.12818e-05	0	0
HMCN1	83872	broad.mit.edu	37	1	186043883	186043883	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:186043883C>T	ENST00000271588.4	+	53	8379	c.8150C>T	c.(8149-8151)tCc>tTc	p.S2717F	HMCN1_ENST00000367492.2_Missense_Mutation_p.S2717F	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2717	Ig-like C2-type 25.				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						CCCCTTAAATCCGATGATCAT	0.353000													15	29					0	0	0.00074312	0	0
GNAS	2778	broad.mit.edu	37	20	57428697	57428697	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr20:57428697G>A	ENST00000371100.4	+	1	929	c.377G>A	c.(376-378)gGg>gAg	p.G126E	GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371099.2_Missense_Mutation_p.G126E|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000306120.3_Missense_Mutation_p.G63R|GNAS_ENST00000603534.1_Intron|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000371102.4_Missense_Mutation_p.G126E|GNAS_ENST00000371098.2_Intron	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			TTCCCCAGTGGGGTCCATGCA	0.632000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			9	28					0	0	0.000673444	0	0
MAGI2	9863	broad.mit.edu	37	7	77708295	77708295	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr7:77708295G>A	ENST00000354212.4	-	21	3928	c.3675C>T	c.(3673-3675)ctC>ctT	p.L1225L	MAGI2_ENST00000419488.1_Silent_p.L1211L|MAGI2_ENST00000522391.1_Silent_p.L1225L	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	1225	PDZ 6.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TGCCTCTCTTGAGCAGCAGCC	0.433000													66	117					0	0	0.000781405	0	0
FAM53A	152877	broad.mit.edu	37	4	1656818	1656818	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr4:1656818G>A	ENST00000308132.6	-	4	961	c.769C>T	c.(769-771)Cgg>Tgg	p.R257W	FAM53A_ENST00000461064.1_Missense_Mutation_p.R257W|FAM53A_ENST00000472884.2_Missense_Mutation_p.R257W|FAM53A_ENST00000489363.1_Missense_Mutation_p.R257W	NM_001174070.1	NP_001167541.1	Q6NSI3	FA53A_HUMAN	family with sequence similarity 53, member A	257						nucleus				breast(2)|central_nervous_system(2)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10		all_epithelial(65;0.206)|Breast(71;0.212)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)			GAGCGGCACCGGAGCAGCCCA	0.716000													13	10					0	0	0.00136819	0	0
NPY1R	4886	broad.mit.edu	37	4	164247360	164247360	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr4:164247360T>A	ENST00000296533.2	-	2	878	c.347A>T	c.(346-348)aAt>aTt	p.N116I	NPY1R_ENST00000509586.1_Intron	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	116					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)				CACAAAAGGATTCAACTTACA	0.448000													10	7					0	0	0.000673444	0	0
USP29	57663	broad.mit.edu	37	19	57640096	57640096	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:57640096G>A	ENST00000254181.4	+	4	507	c.53G>A	c.(52-54)gGg>gAg	p.G18E	USP29_ENST00000598197.1_Missense_Mutation_p.G18E	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	18					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CAGAAGACTGGGATGACTAAG	0.343000													22	31					0	0	0.000375601	0	0
IL13RA2	3598	broad.mit.edu	37	X	114242621	114242621	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:114242621C>T	ENST00000371936.1	-	9	1120	c.871G>A	c.(871-873)Gaa>Aaa	p.E291K	IL13RA2_ENST00000243213.1_Missense_Mutation_p.E291K			Q14627	I13R2_HUMAN	interleukin 13 receptor, alpha 2	291	Fibronectin type-III 3.					extracellular space|integral to membrane|soluble fraction	cytokine receptor activity			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	23						GTGTATGTTTCATTTTCAACT	0.363000													32	55					0	0	0.000409698	0	0
FGFR3	2261	broad.mit.edu	37	4	1801058	1801058	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr4:1801058C>T	ENST00000340107.4	+	3	443	c.187C>T	c.(187-189)Ccg>Tcg	p.P63S	FGFR3_ENST00000352904.1_Missense_Mutation_p.P63S|FGFR3_ENST00000412135.2_Missense_Mutation_p.P63S|FGFR3_ENST00000260795.2_Missense_Mutation_p.P63S|FGFR3_ENST00000481110.2_Missense_Mutation_p.P63S|FGFR3_ENST00000440486.2_Missense_Mutation_p.P63S	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	63	Ig-like C2-type 1.				bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	GAGCTGTCCCCCGCCCGGGGG	0.697000		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome				56	34					0	0	0.000781405	0	0
LRRC43	254050	broad.mit.edu	37	12	122669150	122669150	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:122669150G>A	ENST00000339777.4	+	2	263	c.235G>A	c.(235-237)Gag>Aag	p.E79K	LRRC43_ENST00000425921.1_5'UTR	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	79										NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		CCCCGGAGAGGAGACGGTGGA	0.597000													9	16					0	0	0.000274275	0	0
SDK1	221935	broad.mit.edu	37	7	4050701	4050701	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr7:4050701G>A	ENST00000404826.2	+	15	2374	c.2235G>A	c.(2233-2235)gcG>gcA	p.A745A	SDK1_ENST00000389531.3_Silent_p.A745A	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	745	Fibronectin type-III 1.				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)		GGGTGTGCGCGGTGAATGAAG	0.622000													9	24					0	0	0.000274275	0	0
ACSS1	84532	broad.mit.edu	37	20	25000673	25000673	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr20:25000673G>A	ENST00000537502.1	-	5	2501	c.970C>T	c.(970-972)Cgc>Tgc	p.R324C	ACSS1_ENST00000542618.1_Missense_Mutation_p.R286C|ACSS1_ENST00000323482.4_Missense_Mutation_p.R407C|ACSS1_ENST00000432802.2_Missense_Mutation_p.R407C			Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	407					acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	acetate-CoA ligase activity|AMP binding|ATP binding|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	AGGGAGGAGCGATCATACTTC	0.587000													29	52					0	0	0.001512	0	0
HR	55806	broad.mit.edu	37	8	21986542	21986542	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr8:21986542G>A	ENST00000381418.4	-	2	1622	c.142C>T	c.(142-144)Ccc>Tcc	p.P48S	HR_ENST00000312841.8_Missense_Mutation_p.P48S	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	48							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		CTCCAAAAGGGAGCAGGCTCT	0.687000													12	24					0	0	0.00136819	0	0
IFNA8	3445	broad.mit.edu	37	9	21409388	21409388	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr9:21409388C>T	ENST00000380205.1	+	1	243	c.213C>T	c.(211-213)ttC>ttT	p.F71F		NM_002170.3	NP_002161.2	P32881	IFNA8_HUMAN	interferon, alpha 8	71					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	9				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0174)		ATAAACAGTTCCAGAAGGCTC	0.483000													35	22					0	0	0.000491102	0	0
DDO	8528	broad.mit.edu	37	6	110734509	110734509	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:110734509G>A	ENST00000368924.3	-	2	256	c.241C>T	c.(241-243)Cct>Tct	p.P81S	DDO_ENST00000368923.3_Missense_Mutation_p.P81S|DDO_ENST00000368925.1_Missense_Mutation_p.P53S	NM_003649.2	NP_003640.2	Q99489	OXDD_HUMAN	D-aspartate oxidase	53					aspartate catabolic process	peroxisome	binding|D-amino-acid oxidase activity|D-aspartate oxidase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3)	24		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)		TAAGTGTGAGGAATAAGCATT	0.443000													32	40					0	0	0.00058488	0	0
STON2	85439	broad.mit.edu	37	14	81837403	81837403	+	Missense_Mutation	SNP	G	G	A	rs146988761	byFrequency	TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr14:81837403G>A	ENST00000555447.1	-	5	912	c.500C>T	c.(499-501)tCg>tTg	p.S167L	STON2_ENST00000267540.2_Missense_Mutation_p.S167L	NM_001256430.1	NP_001243359.1	Q8WXE9	STON2_HUMAN	stonin 2	167					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)		ATCTGTATACGAACATCCAAA	0.542000													46	64					0	0	0.000781405	0	0
ZNF827	152485	broad.mit.edu	37	4	146823846	146823846	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr4:146823846A>T	ENST00000508784.1	-	2	792	c.565T>A	c.(565-567)Ttt>Att	p.F189I	ZNF827_ENST00000379448.4_Missense_Mutation_p.F189I|ZNF827_ENST00000513320.1_Intron			Q17R98	ZN827_HUMAN	zinc finger protein 827	189					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					TTCCATATAAAACGGTTACTT	0.517000													26	16					0	0	0.000586117	0	0
RBM22	55696	broad.mit.edu	37	5	150071404	150071404	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:150071404G>A	ENST00000199814.4	-	11	1293	c.1172C>T	c.(1171-1173)cCt>cTt	p.P391L	RBM22_ENST00000447771.2_Missense_Mutation_p.P342L|RBM22_ENST00000540000.1_Missense_Mutation_p.P342L	NM_018047.2	NP_060517.1	Q9NW64	RBM22_HUMAN	RNA binding motif protein 22	391	Pro-rich.				protein import into nucleus, translocation	catalytic step 2 spliceosome|cytoplasm	calcium-dependent protein binding|nucleotide binding|RNA binding|zinc ion binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(1)	17		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CATGAAAGGAGGGGGTGGTCC	0.522000													22	43					0	0	0.000586117	0	0
C19orf33	64073	broad.mit.edu	37	19	38795267	38795267	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:38795267G>A	ENST00000591889.1	+	5	404	c.404G>A	c.(403-405)aGg>aAg	p.R135K	C19orf33_ENST00000301246.5_Missense_Mutation_p.G48R|C19orf33_ENST00000588605.1_Silent_p.K67K																							CATCCAGCAAGGACACCACAG	0.657000													16	19					0	0	0.00074312	0	0
ZNF813	126017	broad.mit.edu	37	19	53994690	53994690	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:53994690C>T	ENST00000396403.4	+	4	1332	c.1204C>T	c.(1204-1206)Cgt>Tgt	p.R402C	ZNF813_ENST00000396421.4_Intron	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	402					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		TAAATGCCATCGTAGACTTCA	0.408000													24	27					0	0	0.00047179	0	0
RHOB	388	broad.mit.edu	37	2	20647414	20647414	+	Missense_Mutation	SNP	A	A	C			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:20647414A>C	ENST00000272233.4	+	1	580	c.188A>C	c.(187-189)cAg>cCg	p.Q63P		NM_004040.2	NP_004031.1	P62745	RHOB_HUMAN	ras homolog family member B	63					angiogenesis|axon guidance|cell adhesion|endosome to lysosome transport|negative regulation of cell cycle|platelet activation|positive regulation of angiogenesis|protein transport|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|transformed cell apoptosis	cytosol|late endosome membrane|nucleus|plasma membrane	GTP binding|GTPase activity|protein binding			breast(1)|kidney(1)|lung(2)|ovary(1)|urinary_tract(2)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)	all_epithelial(98;4.19e-09)|Lung NSC(108;0.00452)|Ovarian(717;0.0164)		OV - Ovarian serous cystadenocarcinoma(76;1.14e-22)|Epithelial(75;7.84e-19)		ACGGCGGGCCAGGAGGACTAC	0.647000													17	37					0	0	0.000566183	0	0
OR5H14	403273	broad.mit.edu	37	3	97868711	97868711	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:97868711G>A	ENST00000437310.1	+	1	542	c.482G>A	c.(481-483)gGa>gAa	p.G161E		NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						ATCCATGAAGGATTTTTATTC	0.348000													39	79					0	0	0.000953801	0	0
PAAF1	80227	broad.mit.edu	37	11	73602227	73602227	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr11:73602227C>T	ENST00000544909.1	+	2	523	c.266C>T	c.(265-267)tCc>tTc	p.S89F	PAAF1_ENST00000535604.1_5'UTR|PAAF1_ENST00000310571.3_Missense_Mutation_p.S88F|PAAF1_ENST00000543079.1_3'UTR|PAAF1_ENST00000541951.1_5'UTR|PAAF1_ENST00000544552.1_Missense_Mutation_p.S71F|PAAF1_ENST00000536003.1_Missense_Mutation_p.S71F|PAAF1_ENST00000376384.5_Missense_Mutation_p.S71F			Q9BRP4	PAAF1_HUMAN	proteasomal ATPase-associated factor 1	88					interspecies interaction between organisms	proteasome complex	protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(11;7.42e-05)					ACTACTTTTTCCAGAATTCAT	0.284000													21	14					0	0	0.000229342	0	0
TAOK3	51347	broad.mit.edu	37	12	118693341	118693341	+	Missense_Mutation	SNP	A	A	G	rs61945215		TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:118693341A>G	ENST00000392533.3	-	3	522	c.32T>C	c.(31-33)aTt>aCt	p.I11T	TAOK3_ENST00000419821.2_Missense_Mutation_p.I11T	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	11					MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TAGATCGGCAATCTCTGGGTC	0.378000													51	103					0	0	0.000781405	0	0
MGAT5B	146664	broad.mit.edu	37	17	74942495	74942495	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr17:74942495G>A	ENST00000569840.2	+	16	2460	c.1886G>A	c.(1885-1887)gGg>gAg	p.G629E	MGAT5B_ENST00000301618.4_Missense_Mutation_p.G627E|MGAT5B_ENST00000428789.2_Missense_Mutation_p.G638E	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	629						Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ACCTGCGAGGGGATGCTGGAG	0.662000													7	21					0	0	0.000442599	0	0
UMODL1	89766	broad.mit.edu	37	21	43531574	43531574	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr21:43531574C>T	ENST00000400427.1	+	11	2422	c.2026C>T	c.(2026-2028)Cct>Tct	p.P676S	UMODL1_ENST00000400424.1_Intron|UMODL1_ENST00000408989.2_Missense_Mutation_p.P748S|UMODL1_ENST00000408910.2_Intron	NM_001199527.1	NP_001186456.1	Q5DID0	UROL1_HUMAN	uromodulin-like 1	681						cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						CCACAGCTTCCCTCCTGGGGC	0.647000													8	27					0	0	0.000274275	0	0
CDH17	1015	broad.mit.edu	37	8	95183151	95183151	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr8:95183151G>A	ENST00000027335.3	-	8	970	c.846C>T	c.(844-846)ttC>ttT	p.F282F	CDH17_ENST00000441892.2_Intron|CDH17_ENST00000450165.2_Silent_p.F282F	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	282	Cadherin 3.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			TTGAAAATGGGAATCTTGGCA	0.463000													48	82					0	0	0.000781405	0	0
ZNF99	7652	broad.mit.edu	37	19	22941413	22941413	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:22941413G>A	ENST00000397104.3	-	5	1024	c.1025C>T	c.(1024-1026)gCt>gTt	p.A342V	ZNF99_ENST00000596209.1_Missense_Mutation_p.A433V					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				ACGCTTAAAAGCTTTGCCACA	0.363000													18	32					0	0	0.000229342	0	0
KSR2	283455	broad.mit.edu	37	12	117968819	117968819	+	Splice_Site	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:117968819C>T	ENST00000425217.1	-	12	1697		c.e12-1		KSR2_ENST00000545002.1_Splice_Site|KSR2_ENST00000302438.5_Splice_Site|KSR2_ENST00000339824.5_Splice_Site	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2						intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGCACCACATCTGAAAACCAG	0.547000													45	91					0	0	0.000781405	0	0
HAND1	9421	broad.mit.edu	37	5	153855395	153855395	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:153855395G>A	ENST00000231121.2	-	2	874	c.619C>T	c.(619-621)Caa>Taa	p.Q207*		NM_004821.2	NP_004812.1	O96004	HAND1_HUMAN	heart and neural crest derivatives expressed 1	207					angiogenesis|cardiac left ventricle formation|cardiac right ventricle formation|cardiac septum morphogenesis|heart looping|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|trophectodermal cell differentiation|ventricular cardiac muscle tissue morphogenesis	cytoplasm|nucleolus|nucleoplasm	bHLH transcription factor binding|DNA binding|protein homodimerization activity|transcription coactivator activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	6	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			GCCCAGACTTGCTGCGGCCAG	0.637000													14	26					0	0	0.000566183	0	0
CYP1A2	1544	broad.mit.edu	37	15	75047291	75047291	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr15:75047291C>T	ENST00000343932.4	+	7	1476	c.1413C>T	c.(1411-1413)ttC>ttT	p.F471F		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	471					alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	TCTTCCTCTTCCTGGCCATCC	0.592000													23	37					0	0	0.000586117	0	0
MDN1	23195	broad.mit.edu	37	6	90380733	90380733	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:90380733C>T	ENST00000369393.3	-	83	13976	c.13861G>A	c.(13861-13863)Gtc>Atc	p.V4621I	MDN1_ENST00000428876.1_Missense_Mutation_p.V4621I|MDN1_ENST00000468568.1_5'UTR			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4621					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AAGAAGAGGACGAGGTCTGAG	0.522000													21	52					0	0	0.00121646	0	0
TYRO3	7301	broad.mit.edu	37	15	41854889	41854889	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr15:41854889C>T	ENST00000263798.3	+	4	777	c.553C>T	c.(553-555)Ccc>Tcc	p.P185S	TYRO3_ENST00000559066.1_Missense_Mutation_p.P140S	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	185	Ig-like C2-type 2.					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GGGACCCGCTCCCTCTCCATC	0.567000													5	10					0	0	0.000602214	0	0
PLCL1	5334	broad.mit.edu	37	2	198949555	198949555	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:198949555C>T	ENST00000428675.1	+	2	1712	c.1314C>T	c.(1312-1314)ggC>ggT	p.G438G	PLCL1_ENST00000437704.2_Silent_p.G340G	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	438	PI-PLC X-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	TGAAAATGGGCTGTCGAAGCG	0.413000													28	47					0	0	0.00106085	0	0
ZNF750	79755	broad.mit.edu	37	17	80790255	80790255	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr17:80790255T>C	ENST00000269394.3	-	2	909	c.76A>G	c.(76-78)Aaa>Gaa	p.K26E	TBCD_ENST00000397466.2_Intron|ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000355528.4_Intron|TBCD_ENST00000539345.2_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	26						intracellular	zinc ion binding			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			TGGAAACATTTATACTTGAAG	0.408000													31	65					0	0	0.00058488	0	0
SNAP25	6616	broad.mit.edu	37	20	10273890	10273890	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr20:10273890G>A	ENST00000254976.2	+	5	456	c.245G>A	c.(244-246)gGa>gAa	p.G82E	SNAP25-AS1_ENST00000421143.2_RNA|SNAP25_ENST00000304886.2_Intron|SNAP25-AS1_ENST00000453544.1_RNA	NM_130811.2	NP_570824.1	P60880	SNP25_HUMAN	synaptosomal-associated protein, 25kDa	82					energy reserve metabolic process|glutamate secretion|neurotransmitter uptake|synaptic vesicle docking involved in exocytosis	cell junction|growth cone|perinuclear region of cytoplasm|synapse|synaptosome				endometrium(1)|large_intestine(2)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	18					Botulinum Toxin Type A(DB00083)	ACGGACCTAGGAAAATTCTGC	0.458000													31	51					0	0	0.001512	0	0
RPTN	126638	broad.mit.edu	37	1	152129438	152129438	+	Splice_Site	SNP	T	T	G			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:152129438T>G	ENST00000316073.3	-	3	203		c.e3-2			NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin							proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						ATTTGGTCTCTGTTAGGAGAT	0.433000													33	30					0	0	0.000814825	0	0
SLC34A3	142680	broad.mit.edu	37	9	140126206	140126206	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr9:140126206G>A	ENST00000538474.1	+	2	276	c.52G>A	c.(52-54)Gtt>Att	p.V18I	SLC34A3_ENST00000361134.2_Missense_Mutation_p.V18I	NM_001177316.1|NM_001177317.1	NP_001170787.1|NP_001170788.1	Q8N130	NPT2C_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 3	18					cellular phosphate ion homeostasis	apical plasma membrane|integral to membrane	sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		TCTGGACGCGGTTGACCTAGT	0.642000													31	20					0	0	0.00128727	0	0
MAGEB16	139604	broad.mit.edu	37	X	35820931	35820931	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:35820931G>A	ENST00000399989.1	+	2	897	c.618G>A	c.(616-618)ctG>ctA	p.L206L	MAGEB16_ENST00000399985.1_Silent_p.L206L|MAGEB16_ENST00000399992.1_Silent_p.L238L|MAGEB16_ENST00000399988.1_Silent_p.L206L|MAGEB16_ENST00000399987.1_Silent_p.L206L	NM_001099921.1	NP_001093391.1	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	206	MAGE.									breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						CTGGCCTCCTGATAATTGTCC	0.522000													18	35					0	0	0.000375601	0	0
ABCC6	368	broad.mit.edu	37	16	16284138	16284138	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr16:16284138C>T	ENST00000205557.7	-	12	1547	c.1518G>A	c.(1516-1518)tgG>tgA	p.W506*	ABCC6_ENST00000574094.1_5'UTR	NM_001171.5	NP_001162.4	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	506	ABC transmembrane type-1 1.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		AGGCTCCCTCCCAGCCATGGA	0.622000													23	32					0	0	0.00047179	0	0
CIR1	9541	broad.mit.edu	37	2	175243705	175243705	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:175243705G>A	ENST00000342016.3	-	7	522	c.430C>T	c.(430-432)Cct>Tct	p.P144S	CIR1_ENST00000362053.5_Missense_Mutation_p.P144S	NM_004882.3	NP_004873.3	Q86X95	CIR1_HUMAN	corepressor interacting with RBPJ, 1	144					mRNA processing|negative regulation of transcription, DNA-dependent|RNA splicing	nuclear speck	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(5)|skin(1)	15						CCAAACAAAGGACATTCTCGA	0.403000													27	53					0	0	0.000720815	0	0
PUM2	23369	broad.mit.edu	37	2	20455081	20455081	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:20455081G>A	ENST00000361078.2	-	17	2672	c.2650C>T	c.(2650-2652)Cct>Tct	p.P884S	PUM2_ENST00000536417.1_Missense_Mutation_p.P826S|PUM2_ENST00000338086.5_Missense_Mutation_p.P882S|PUM2_ENST00000319801.5_Missense_Mutation_p.P805S|PUM2_ENST00000403432.1_Missense_Mutation_p.P882S			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	884	PUM-HD.				regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGCCATAAGGATGAGTTGAA	0.388000													23	28					0	0	0.000586117	0	0
ENTPD1	953	broad.mit.edu	37	10	97607239	97607239	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr10:97607239C>T	ENST00000371203.5	+	6	1023	c.436C>T	c.(436-438)Cat>Tat	p.H146Y	ENTPD1_ENST00000453258.2_Missense_Mutation_p.H291Y|ENTPD1_ENST00000371205.4_Missense_Mutation_p.H284Y|RP11-429G19.3_ENST00000433113.1_RNA|ENTPD1_ENST00000371207.3_Missense_Mutation_p.H296Y|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1_ENST00000543964.1_Missense_Mutation_p.H176Y|ENTPD1_ENST00000539125.1_Missense_Mutation_p.H146Y	NM_001164179.1|NM_001164182.1|NM_001776.5	NP_001157651.1|NP_001157654.1|NP_001767.3	P49961	ENTP1_HUMAN	ectonucleoside triphosphate diphosphohydrolase 1	284					cell adhesion	integral to plasma membrane	ATP binding			cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		CCCATGCTTTCATCCTGGATA	0.418000													37	20					0	0	0.000509022	0	0
EMR3	84658	broad.mit.edu	37	19	14752279	14752279	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:14752279G>A	ENST00000253673.5	-	10	1300	c.1200C>T	c.(1198-1200)ttC>ttT	p.F400F	EMR3_ENST00000344373.4_Silent_p.F348F|EMR3_ENST00000599900.1_Silent_p.F185F|EMR3_ENST00000443157.2_Silent_p.F274F	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	400					neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						GGTGGGCCAGGAAGAGGCAGA	0.577000													18	43					0	0	0.00121646	0	0
MB21D1	115004	broad.mit.edu	37	6	74155359	74155359	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:74155359G>A	ENST00000370315.3	-	2	863	c.769C>T	c.(769-771)Ccg>Tcg	p.P257S	MB21D1_ENST00000370318.1_Missense_Mutation_p.P257S	NM_138441.2	NP_612450.2	Q8N884	M21D1_HUMAN	Mab-21 domain containing 1	257										central_nervous_system(1)|large_intestine(4)|lung(1)	6						TTTTCTTTCGGATTTCTTTTA	0.313000													32	39					0	0	0.000339439	0	0
COL11A1	1301	broad.mit.edu	37	1	103343611	103343611	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:103343611G>A	ENST00000358392.2	-	67	5738	c.5421C>T	c.(5419-5421)ttC>ttT	p.F1807F	COL11A1_ENST00000353414.4_Silent_p.F1756F|COL11A1_ENST00000512756.1_Silent_p.F1679F|COL11A1_ENST00000370096.3_Silent_p.F1795F	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1795					collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	p.F1807F(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CTTCAAATCCGAACTTCTGAT	0.348000													23	44					0	0	0.00106085	0	0
RLIM	51132	broad.mit.edu	37	X	73812727	73812727	+	Silent	SNP	T	T	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:73812727T>A	ENST00000332687.6	-	4	641	c.423A>T	c.(421-423)atA>atT	p.I141I	RLIM_ENST00000349225.2_Silent_p.I141I	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	141					random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GGTTAACATTTATCTCTAAAC	0.408000													67	112					0	0	0.000781405	0	0
UPF3B	65109	broad.mit.edu	37	X	118977163	118977163	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:118977163C>T	ENST00000276201.2	-	5	640	c.571G>A	c.(571-573)Gaa>Aaa	p.E191K	UPF3B_ENST00000345865.2_Missense_Mutation_p.E191K|UPF3B_ENST00000478840.1_5'UTR	NM_080632.2	NP_542199.1	Q9BZI7	REN3B_HUMAN	UPF3 regulator of nonsense transcripts homolog B (yeast)	191	Necessary for interaction with UPF2.|Sufficient for association with EJC core.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription	cytosol|exon-exon junction complex|nucleoplasm	mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1)	30						CCTATTAATTCTCTATTTTTT	0.388000													43	85					0	0	0.000437636	0	0
WWP2	11060	broad.mit.edu	37	16	69951744	69951744	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr16:69951744C>T	ENST00000359154.2	+	10	1238	c.1137C>T	c.(1135-1137)ctC>ctT	p.L379L	WWP2_ENST00000356003.2_Silent_p.L379L|WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000448661.1_Silent_p.L379L|WWP2_ENST00000542271.1_Silent_p.L263L	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	379					entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GGAATCAGCTCCAGGGGGCCA	0.617000													6	20					0	0	0.000157383	0	0
MDN1	23195	broad.mit.edu	37	6	90385895	90385895	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:90385895C>T	ENST00000369393.3	-	77	12686	c.12571G>A	c.(12571-12573)Gga>Aga	p.G4191R	MDN1_ENST00000428876.1_Missense_Mutation_p.G4191R			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4191					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TTCTGGCATCCATCCCATGAA	0.448000													27	51					0	0	0.001512	0	0
CHST9	83539	broad.mit.edu	37	18	24496402	24496402	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr18:24496402C>T	ENST00000284224.8	-	6	1430	c.1153G>A	c.(1153-1155)Ggt>Agt	p.G385S	AQP4-AS1_ENST00000582605.1_RNA|AQP4-AS1_ENST00000578701.1_RNA|AQP4-AS1_ENST00000579964.1_RNA|CHST9_ENST00000581714.1_Missense_Mutation_p.G385S|CHST9_ENST00000580774.1_3'UTR|AQP4-AS1_ENST00000568797.1_RNA	NM_031422.5	NP_113610.2	Q7L1S5	CHST9_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9	385					carbohydrate biosynthetic process|glycosaminoglycan metabolic process|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	extracellular region|Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity	p.G300C(1)|p.G385C(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3)	28	all_lung(6;0.0145)|Ovarian(20;0.124)					TTTGGAGCACCGATCATCTGT	0.398000													43	68					0	0	0.00170553	0	0
SELP	6403	broad.mit.edu	37	1	169580879	169580879	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:169580879C>T	ENST00000263686.6	-	7	1035	c.998G>A	c.(997-999)gGa>gAa	p.G333E	SELP_ENST00000367793.2_Missense_Mutation_p.G271E|SELP_ENST00000367788.2_Missense_Mutation_p.G271E|SELP_ENST00000367794.2_Intron|SELP_ENST00000458599.2_Intron|SELP_ENST00000367786.2_Intron|SELP_ENST00000367791.2_Intron|SELP_ENST00000367792.2_Intron	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	333	Sushi 3.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	GTCCATGGTTCCTTCACTGGG	0.517000													25	64					0	0	0.00127121	0	0
LONRF1	91694	broad.mit.edu	37	8	12594427	12594427	+	Nonsense_Mutation	SNP	T	T	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr8:12594427T>A	ENST00000398246.3	-	5	1405	c.1336A>T	c.(1336-1338)Aag>Tag	p.K446*	LONRF1_ENST00000533751.1_Nonsense_Mutation_p.K89*	NM_152271.3	NP_689484.3	Q17RB8	LONF1_HUMAN	LON peptidase N-terminal domain and ring finger 1	446					proteolysis		ATP-dependent peptidase activity|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19				READ - Rectum adenocarcinoma(644;0.236)		TTTTTCAGCTTATTTCTTCCA	0.308000													8	7					0	0	0.000157383	0	0
PID1	55022	broad.mit.edu	37	2	229890376	229890376	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:229890376G>A	ENST00000392054.3	-	4	1058	c.719C>T	c.(718-720)tCc>tTc	p.S240F	PID1_ENST00000482518.2_Intron|PID1_ENST00000354069.6_Missense_Mutation_p.S242F|PID1_ENST00000392055.3_Missense_Mutation_p.S209F|PID1_ENST00000409462.1_Missense_Mutation_p.S160F	NM_017933.4	NP_060403.3	Q7Z2X4	PCLI1_HUMAN	phosphotyrosine interaction domain containing 1	242	PID.					cytoplasm				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		CAATTCCTGGGAAACCTCTTC	0.512000													22	57					0	0	0.000375601	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113517931	113517931	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr7:113517931G>A	ENST00000284601.3	-	4	3284	c.3216C>T	c.(3214-3216)acC>acT	p.T1072T		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	1072					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TTTTAGAGTTGGTATATTTTG	0.348000													78	64					0	0	0.000781405	0	0
SEMA4F	10505	broad.mit.edu	37	2	74902382	74902382	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:74902382G>A	ENST00000357877.2	+	10	1392	c.1243G>A	c.(1243-1245)Gac>Aac	p.D415N	SEMA4F_ENST00000473350.1_Intron|SEMA4F_ENST00000339773.5_Missense_Mutation_p.D260N	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	415	Sema.				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						CCCACTCATGGACAGGCCAGT	0.582000											OREG0014721	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	25					0	0	0.000958276	0	0
HIVEP3	59269	broad.mit.edu	37	1	42045916	42045916	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:42045916G>A	ENST00000372584.1	-	3	5567	c.4553C>T	c.(4552-4554)cCt>cTt	p.P1518L	HIVEP3_ENST00000429157.2_Missense_Mutation_p.P1518L|HIVEP3_ENST00000372583.1_Missense_Mutation_p.P1518L|HIVEP3_ENST00000247584.5_Missense_Mutation_p.P1518L	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1518					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GGACAATGCAGGGTGAGGGAG	0.567000													24	37					0	0	0.000375601	0	0
CACNA1G	8913	broad.mit.edu	37	17	48696108	48696108	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr17:48696108C>T	ENST00000352832.5	+	31	5790	c.5418C>T	c.(5416-5418)ttC>ttT	p.F1806F	CACNA1G_ENST00000359106.5_Silent_p.F1840F|CACNA1G_ENST00000510366.1_Silent_p.F1788F|CACNA1G_ENST00000512389.1_Silent_p.F1829F|CACNA1G_ENST00000360761.4_Silent_p.F1817F|CACNA1G_ENST00000429973.2_Silent_p.F1822F|CACNA1G_ENST00000505165.1_Silent_p.F1840F|CACNA1G_ENST00000503485.1_Silent_p.F1806F|CACNA1G_ENST00000358244.5_Silent_p.F1806F|CACNA1G_ENST00000514181.1_Silent_p.F1815F|CACNA1G_ENST00000515411.1_Silent_p.F1822F|CACNA1G_ENST00000502264.1_Silent_p.F1817F|CACNA1G_ENST00000442258.2_Silent_p.F1799F|CACNA1G_ENST00000507896.1_Silent_p.F1829F|CACNA1G_ENST00000513964.1_Silent_p.F1795F|CACNA1G_ENST00000510115.1_Silent_p.F1806F|CACNA1G_ENST00000513689.2_Silent_p.F1795F|CACNA1G_ENST00000514717.1_Silent_p.F1783F|CACNA1G_ENST00000515765.1_Silent_p.F1829F|CACNA1G_ENST00000354983.4_Silent_p.F1806F|CACNA1G_ENST00000515165.1_Silent_p.F1840F|CACNA1G_ENST00000507336.1_Silent_p.F1829F|CACNA1G_ENST00000507510.2_Silent_p.F1840F|CACNA1G_ENST00000507609.1_Silent_p.F1833F|CACNA1G_ENST00000514079.1_Silent_p.F1847F	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1840					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CGGCCCAGTTCGTGCTAGTCA	0.602000													16	30					0	0	0.000566183	0	0
OR1I1	126370	broad.mit.edu	37	19	15198637	15198637	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:15198637C>G	ENST00000209540.2	+	1	847	c.761C>G	c.(760-762)aCc>aGc	p.T254S		NM_001004713.1	NP_001004713.1	O60431	OR1I1_HUMAN	olfactory receptor, family 1, subfamily I, member 1	254					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(3)|ovary(2)|stomach(2)	20						TCCTATGGGACCATCTTTGCT	0.542000													3	15					0	0	6.4e-05	0	0
RNF180	285671	broad.mit.edu	37	5	63496695	63496695	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:63496695C>T	ENST00000389100.4	+	2	133	c.61C>T	c.(61-63)Cgt>Tgt	p.R21C	RNF180_ENST00000296615.6_Missense_Mutation_p.R21C|RNF180_ENST00000381081.2_Missense_Mutation_p.R21C	NM_001113561.1	NP_001107033.1	Q86T96	RN180_HUMAN	ring finger protein 180	21				SILRC -> GETVFSL (in Ref. 2; CAD89939).		integral to membrane|nuclear envelope	zinc ion binding			breast(1)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	20		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0848)|Colorectal(97;0.234)		Lung(70;0.114)		AAGTATTCTTCGTTGTTGGAA	0.333000													20	43					0	0	0.00121646	0	0
HOXB1	3211	broad.mit.edu	37	17	46607022	46607022	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr17:46607022C>T	ENST00000239174.6	-	2	885	c.793G>A	c.(793-795)Gaa>Aaa	p.E265K	HOXB1_ENST00000577092.1_3'UTR	NM_002144.3	NP_002135.2	P14653	HXB1_HUMAN	homeobox B1	265			E -> G (in dbSNP:rs7226137).			nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						ACCCGACCTTCCTCTCGCTCG	0.622000													36	62					0	0	0.00128727	0	0
SEMA4F	10505	broad.mit.edu	37	2	74902381	74902381	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:74902381G>A	ENST00000357877.2	+	10	1391	c.1242G>A	c.(1240-1242)atG>atA	p.M414I	SEMA4F_ENST00000473350.1_Intron|SEMA4F_ENST00000339773.5_Missense_Mutation_p.M259I	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	414	Sema.				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						ACCCACTCATGGACAGGCCAG	0.582000											OREG0014721	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	26					0	0	0.000958276	0	0
OR10P1	121130	broad.mit.edu	37	12	56031458	56031458	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:56031458C>T	ENST00000309675.2	+	1	815	c.783C>T	c.(781-783)atC>atT	p.I261I		NM_206899.1	NP_996782.1	Q8NGE3	O10P1_HUMAN	olfactory receptor, family 10, subfamily P, member 1	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I261I(1)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						TCACCTACATCCGGCCGCAGG	0.582000													27	55					0	0	0.00178596	0	0
MAGEA10	4109	broad.mit.edu	37	X	151303812	151303812	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:151303812G>A	ENST00000370323.4	-	4	597	c.281C>T	c.(280-282)cCc>cTc	p.P94L	RP11-1007I13.4_ENST00000509345.2_RNA|MAGEA10_ENST00000244096.3_Missense_Mutation_p.P94L	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386.2	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	94										endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					AACGACCGAGGGGGAGGAGCA	0.547000													70	177					0	0	0.000781405	0	0
ZNF292	23036	broad.mit.edu	37	6	87964629	87964629	+	Silent	SNP	T	T	C			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:87964629T>C	ENST00000369577.3	+	8	1325	c.1282T>C	c.(1282-1284)Tta>Cta	p.L428L	ZNF292_ENST00000339907.4_Silent_p.L423L	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	428					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		ACCAAATTCTTTACGCTGTGA	0.383000													20	30					0	0	0.00152264	0	0
C17orf74	201243	broad.mit.edu	37	17	7330098	7330098	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr17:7330098C>T	ENST00000333870.3	+	3	862	c.788C>T	c.(787-789)tCc>tTc	p.S263F	C17orf74_ENST00000574034.1_3'UTR|RP11-104H15.7_ENST00000575310.1_RNA	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN	chromosome 17 open reading frame 74	263						integral to membrane				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				CGCCACGGTTCCCAATCCCGA	0.662000													15	16					0	0	0.000422831	0	0
MAP10	54627	broad.mit.edu	37	1	232942697	232942697	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:232942697A>G	ENST00000418460.1	+	1	2055	c.1928A>G	c.(1927-1929)aAt>aGt	p.N643S		NM_019090.2	NP_061963.2			microtubule-associated protein 10																		GGCTTAACAAATACACTAAGA	0.343000													16	32					0	0	0.000566183	0	0
JADE3	9767	broad.mit.edu	37	X	46913781	46913781	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:46913781G>A	ENST00000218343.4	+	9	1492	c.1194G>A	c.(1192-1194)caG>caA	p.Q398Q	PHF16_ENST00000397189.1_Silent_p.Q398Q	NM_014735.3	NP_055550.1	Q92613	JADE3_HUMAN		398					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						TGCGGGCACAGAAGCTTCGGG	0.537000													17	31					0	0	0.000422831	0	0
NEU1	4758	broad.mit.edu	37	6	31829067	31829067	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:31829067C>A	ENST00000375631.4	-	3	642	c.513G>T	c.(511-513)ttG>ttT	p.L171F		NM_000434.3	NP_000425.1	Q99519	NEUR1_HUMAN	sialidase 1 (lysosomal sialidase)	171						cytoplasmic membrane-bounded vesicle|lysosomal lumen|lysosomal membrane|plasma membrane	exo-alpha-sialidase activity|protein binding			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10					Oseltamivir(DB00198)|Zanamivir(DB00558)	TGCTCCATACCAACATGGTAG	0.537000													9	299					3.86212e-05	0.000216817	0.000673444	1	0
PCDHGB3	56102	broad.mit.edu	37	5	140750199	140750199	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:140750199G>A	ENST00000576222.1	+	1	369	c.238G>A	c.(238-240)Gaa>Aaa	p.E80K	PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGAGCCCCGAAAATGGGAA	0.502000													79	153					0	0	0.000781405	0	0
DIAPH3	81624	broad.mit.edu	37	13	60453373	60453373	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr13:60453373G>A	ENST00000400324.4	-	21	2817	c.2597C>T	c.(2596-2598)tCt>tTt	p.S866F	DIAPH3_ENST00000400319.1_Missense_Mutation_p.S796F|DIAPH3_ENST00000377908.2_Missense_Mutation_p.S855F|DIAPH3_ENST00000267215.4_Missense_Mutation_p.S866F|DIAPH3_ENST00000400320.1_Missense_Mutation_p.S820F|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400330.1_Missense_Mutation_p.S866F	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	866	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		TTTACAGAGAGAGCTAAGGTT	0.353000													13	26					0	0	0.000219431	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64587690	64587690	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:64587690G>A	ENST00000498707.1	-	26	4289	c.3947C>T	c.(3946-3948)cCc>cTc	p.P1316L	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.P1288L	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1316					glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		GGCGCTCCGGGGACGATAGTC	0.577000													96	65					0	0	0.000781405	0	0
DYNC2LI1	51626	broad.mit.edu	37	2	44016840	44016840	+	Silent	SNP	C	C	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:44016840C>A	ENST00000398823.2	+	5	375	c.300C>A	c.(298-300)ccC>ccA	p.P100P	DYNC2LI1_ENST00000489222.2_3'UTR|DYNC2LI1_ENST00000443170.3_5'UTR|DYNC2LI1_ENST00000260605.8_Silent_p.P100P|DYNC2LI1_ENST00000605786.1_Silent_p.P100P|DYNC2LI1_ENST00000406852.3_Silent_p.P100P			Q8TCX1	DC2L1_HUMAN	dynein, cytoplasmic 2, light intermediate chain 1	100						apical part of cell|axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|motile primary cilium	motor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|skin(1)	26		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TCAGCATACCCATCACAGGTG	0.423000													9	354					0.000978159	0.00545416	0.000978159	1	0
VPS72	6944	broad.mit.edu	37	1	151149261	151149261	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:151149261G>A	ENST00000354473.4	-	6	1023	c.987C>T	c.(985-987)atC>atT	p.I329I	VPS72_ENST00000496809.1_5'UTR	NM_001271087.1|NM_005997.1	NP_001258016.1|NP_005988.1	Q15906	VPS72_HUMAN	vacuolar protein sorting 72 homolog (S. cerevisiae)	318					chromatin modification|negative regulation of transcription from RNA polymerase II promoter	nucleus|protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CCTCACGAATGATCTTGAAGG	0.602000													32	60					0	0	0.000491102	0	0
SUGP1	57794	broad.mit.edu	37	19	19427238	19427238	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:19427238G>A	ENST00000247001.5	-	2	546	c.199C>T	c.(199-201)Cct>Tct	p.P67S	SUGP1_ENST00000334782.5_Missense_Mutation_p.P67S|SUGP1_ENST00000585763.1_5'UTR	NM_172231.3	NP_757386.2	Q8IWZ8	SUGP1_HUMAN	SURP and G patch domain containing 1	67					nuclear mRNA splicing, via spliceosome	nucleoplasm|spliceosomal complex	RNA binding			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	22						TACTCGCCAGGATGTGGGGGC	0.567000													14	23					0	0	0.000422831	0	0
AKAP4	8852	broad.mit.edu	37	X	49958744	49958744	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:49958744G>A	ENST00000376056.2	-	5	743	c.593C>T	c.(592-594)tCc>tTc	p.S198F	AKAP4_ENST00000376058.2_Intron|AKAP4_ENST00000358526.2_Missense_Mutation_p.S207F|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376064.3_Missense_Mutation_p.S198F			Q5JQC9	AKAP4_HUMAN	A kinase (PRKA) anchor protein 4	207					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					TCCATCAGGGGAAATGACTGC	0.443000													89	140					0	0	0.000781405	0	0
CACNA2D2	9254	broad.mit.edu	37	3	50416522	50416522	+	Splice_Site	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:50416522C>T	ENST00000435965.1	-	12	1434		c.e12+1		CACNA2D2_ENST00000266039.3_Splice_Site|CACNA2D2_ENST00000360963.3_Splice_Site|CACNA2D2_ENST00000424201.2_Splice_Site|CACNA2D2_ENST00000395083.1_Splice_Site|CACNA2D2_ENST00000479441.1_Splice_Site|CACNA2D2_ENST00000429770.1_Splice_Site|CACNA2D2_ENST00000423994.2_Splice_Site			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2						energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	TTGAGCCTCACCGTCCGGTTT	0.592000													13	16					0	0	0.000219431	0	0
TACC3	10460	broad.mit.edu	37	4	1729447	1729447	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr4:1729447C>T	ENST00000313288.4	+	4	424	c.318C>T	c.(316-318)atC>atT	p.I106I		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	106						centrosome				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			AACAGCTCATCAAGGAAGTGG	0.488000													128	320					0	0	0.000781405	0	0
NMBR	4829	broad.mit.edu	37	6	142409714	142409714	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:142409714C>T	ENST00000258042.1	-	1	222	c.82G>A	c.(82-84)Gat>Aat	p.D28N	RP11-137J7.2_ENST00000454401.1_RNA	NM_002511.2	NP_002502.2	P28336	NMBR_HUMAN	neuromedin B receptor	28					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity			breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		GGCAGGAAATCCCTTTCCCAC	0.607000													13	23					0	0	0.000219431	0	0
ZNF555	148254	broad.mit.edu	37	19	2853171	2853171	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:2853171T>G	ENST00000334241.4	+	4	1246	c.1108T>G	c.(1108-1110)Tgc>Ggc	p.C370G	AC006130.3_ENST00000589365.1_RNA|ZNF555_ENST00000591539.1_Missense_Mutation_p.C369G	NM_001172775.1|NM_152791.4	NP_001166246.1|NP_690004.4	Q8NEP9	ZN555_HUMAN	zinc finger protein 555	370					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCCTACGAATGCAAACAGTG	0.448000													6	9					0	0	0.00116845	0	0
TMEM37	140738	broad.mit.edu	37	2	120194596	120194596	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:120194596C>T	ENST00000306406.4	+	2	188	c.153C>T	c.(151-153)ctC>ctT	p.L51L	TMEM37_ENST00000465296.1_3'UTR|TMEM37_ENST00000409826.1_Silent_p.L63L	NM_183240.2	NP_899063.2	Q8WXS4	CCGL_HUMAN	transmembrane protein 37	51						integral to membrane	calcium channel activity|voltage-gated ion channel activity			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						GGCACTGGCTCCTGGCTGAGG	0.622000													40	64					0	0	0.00170553	0	0
VAV1	7409	broad.mit.edu	37	19	6822341	6822341	+	Splice_Site	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:6822341G>A	ENST00000304076.2	+	5	652		c.e5+1		VAV1_ENST00000539284.1_Splice_Site|VAV1_ENST00000596764.1_Splice_Site|VAV1_ENST00000599806.1_Splice_Site|VAV1_ENST00000602142.1_Splice_Site	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor						apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						GTCCATGCCGGTGCGTGACGT	0.677000													4	6					0	0	0.00024832	0	0
CENPF	1063	broad.mit.edu	37	1	214819674	214819674	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:214819674C>T	ENST00000366955.3	+	13	6929	c.6761C>T	c.(6760-6762)tCt>tTt	p.S2254F		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2350	2 X 177 AA tandem repeats.|Interaction with NDE1 and NDEL1.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AAAGAAGAATCTAAAACTGCA	0.398000													35	127					0	0	0.00111076	0	0
NEB	4703	broad.mit.edu	37	2	152492815	152492815	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:152492815T>G	ENST00000397345.3	-	64	9230	c.9028A>C	c.(9028-9030)Aag>Cag	p.K3010Q	NEB_ENST00000172853.10_Intron|NEB_ENST00000603639.1_Missense_Mutation_p.K3010Q|NEB_ENST00000409198.1_Intron|NEB_ENST00000604864.1_Missense_Mutation_p.K3010Q|NEB_ENST00000427231.2_Missense_Mutation_p.K3010Q	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	3010					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TAGCCTTTCTTCTTTGCTTCT	0.438000													9	16					0	0	0.000274275	0	0
CFHR1	3078	broad.mit.edu	37	1	196799639	196799639	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:196799639G>A	ENST00000320493.5	+	5	705	c.617G>A	c.(616-618)gGa>gAa	p.G206E	CFHR2_ENST00000367421.3_Intron|CFHR1_ENST00000367424.3_Missense_Mutation_p.G147E	NM_002113.2	NP_002104.2	Q03591	FHR1_HUMAN	complement factor H-related 1	206	Sushi 4.				complement activation	extracellular space				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						GATTCTACGGGAAAATGTGGG	0.383000													46	48					0	0	0.000781405	0	0
XIRP2	129446	broad.mit.edu	37	2	167759998	167759998	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:167759998C>T	ENST00000409195.1	+	2	95	c.6C>T	c.(4-6)ttC>ttT	p.F2F	XIRP2_ENST00000409728.1_Silent_p.F2F|XIRP2_ENST00000409043.1_Silent_p.F2F|XIRP2_ENST00000295237.9_Silent_p.F2F|XIRP2_ENST00000409756.2_Silent_p.F2F|XIRP2_ENST00000420519.1_Silent_p.F2F	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CATCCATGTTCCCAATGCAGA	0.448000													20	35					0	0	0.00047179	0	0
DEFB118	117285	broad.mit.edu	37	20	29960918	29960918	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr20:29960918C>T	ENST00000253381.2	+	2	350	c.317C>T	c.(316-318)tCt>tTt	p.S106F		NM_054112.2	NP_473453.1	Q96PH6	DB118_HUMAN	defensin, beta 118	106					cell-matrix adhesion|defense response to bacterium|innate immune response|spermatogenesis	extracellular region				breast(1)|endometrium(1)|lung(7)|ovary(3)|pancreas(1)|prostate(1)	14	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			GTTGAAGAGTCTGAGGCGGGA	0.438000													16	34					0	0	0.00074312	0	0
FAM65A	79567	broad.mit.edu	37	16	67576106	67576106	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr16:67576106C>T	ENST00000540839.3	+	14	1697	c.1477C>T	c.(1477-1479)Cta>Tta	p.L493L	CTD-2012K14.3_ENST00000563083.1_RNA|FAM65A_ENST00000042381.4_Silent_p.L473L|FAM65A_ENST00000422602.2_Silent_p.L493L|FAM65A_ENST00000379312.3_Silent_p.L477L|FAM65A_ENST00000428437.2_Silent_p.L487L			Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	477	Pro-rich.					cytoplasm	binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		CCCAGAAAGCCTAGCCTGGGG	0.622000													20	37					0	0	0.000958276	0	0
LILRB1	10859	broad.mit.edu	37	19	55143065	55143065	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:55143065G>A	ENST00000396331.1	+	5	542	c.185G>A	c.(184-186)aGa>aAa	p.R62K	LILRB1_ENST00000448689.1_Missense_Mutation_p.R62K|LILRB1_ENST00000396332.4_Missense_Mutation_p.R62K|LILRB1_ENST00000396327.3_Missense_Mutation_p.R62K|LILRB1_ENST00000396315.1_Missense_Mutation_p.R62K|LILRB1_ENST00000418536.2_Missense_Mutation_p.R62K|LILRB1_ENST00000396317.1_Missense_Mutation_p.R62K|LILRB1_ENST00000324602.7_Missense_Mutation_p.R62K|LILRB1_ENST00000427581.2_Missense_Mutation_p.R98K|LILRB1_ENST00000396321.2_Missense_Mutation_p.R62K|LILRB1_ENST00000434867.2_Missense_Mutation_p.R62K	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	62	Ig-like C2-type 1.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CGTCTATATAGAGAAAAGAAA	0.582000										HNSCC(37;0.09)			36	51					0	0	0.000692331	0	0
SACM1L	22908	broad.mit.edu	37	3	45748372	45748372	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:45748372G>A	ENST00000389061.5	+	4	510	c.306G>A	c.(304-306)aaG>aaA	p.K102K	SACM1L_ENST00000418611.1_5'UTR|SACM1L_ENST00000541314.1_Intron|SACM1L_ENST00000464524.1_3'UTR	NM_014016.3	NP_054735.3	Q9NTJ5	SAC1_HUMAN	SAC1 suppressor of actin mutations 1-like (yeast)	102						Golgi apparatus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277)		CTTATAAGAAGACAATGTTGC	0.378000													27	24					0	0	0.000720815	0	0
CHRNA2	1135	broad.mit.edu	37	8	27327415	27327415	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr8:27327415C>T	ENST00000407991.1	-	3	765	c.157G>A	c.(157-159)Ggc>Agc	p.G53S	CHRNA2_ENST00000520933.2_Missense_Mutation_p.G53S|CHRNA2_ENST00000240132.2_Missense_Mutation_p.G53S	NM_000742.3	NP_000733.2	Q15822	ACHA2_HUMAN	cholinergic receptor, nicotinic, alpha 2 (neuronal)	53						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine Iodide(DB00416)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199)	GTATGCGAGCCTCCCTGCGGC	0.627000													22	36					0	0	0.000375601	0	0
BTBD1	53339	broad.mit.edu	37	15	83725214	83725214	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr15:83725214G>A	ENST00000261721.4	-	2	687	c.485C>T	c.(484-486)gCc>gTc	p.A162V	RP11-382A20.7_ENST00000570202.1_RNA|RP11-382A20.5_ENST00000566841.1_RNA|RP11-382A20.6_ENST00000568441.1_RNA|BTBD1_ENST00000379403.2_Missense_Mutation_p.A162V	NM_001011885.1|NM_025238.3	NP_001011885.1|NP_079514.1	Q9H0C5	BTBD1_HUMAN	BTB (POZ) domain containing 1	162						cytoplasmic mRNA processing body|protein complex	protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	10				all cancers(203;0.000186)		TGCTTCCAAGGCTGGGACTGC	0.378000													23	30					0	0	0.000295444	0	0
IKBKB	3551	broad.mit.edu	37	8	42175288	42175288	+	Splice_Site	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr8:42175288C>T	ENST00000520810.1	+	12	1425	c.1240_splice	c.e12+1	p.I413_splice	IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000520835.1_Splice_Site_p.I411_splice|IKBKB_ENST00000416505.2_Splice_Site_p.I354_splice|IKBKB_ENST00000379708.3_Splice_Site_p.I190_splice	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	413					anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)	TCAGCTGTATCCGTAAGAATT	0.428000													19	43					0	0	0.000958276	0	0
ADAM2	2515	broad.mit.edu	37	8	39604026	39604026	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr8:39604026C>T	ENST00000265708.4	-	19	2242	c.2139G>A	c.(2137-2139)agG>agA	p.R713R	ADAM2_ENST00000347580.4_Silent_p.R694R|ADAM2_ENST00000379853.2_Silent_p.R557R|ADAM2_ENST00000521880.1_Silent_p.R650R	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	713					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)		TCCATTTTTTCCTTTGGAAAT	0.284000													51	76					0	0	0.000781405	0	0
CREB3L4	148327	broad.mit.edu	37	1	153946380	153946380	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:153946380G>A	ENST00000368607.3	+	10	1293	c.1027G>A	c.(1027-1029)Gta>Ata	p.V343I	CREB3L4_ENST00000405694.3_Missense_Mutation_p.V196I|CREB3L4_ENST00000368600.3_Missense_Mutation_p.V323I|CREB3L4_ENST00000468845.1_3'UTR|CREB3L4_ENST00000368603.1_Missense_Mutation_p.V343I|CREB3L4_ENST00000271889.4_Missense_Mutation_p.V343I	NM_001255978.1|NM_001255980.1|NM_130898.3	NP_001242907.1|NP_001242909.1|NP_570968.1	Q8TEY5	CR3L4_HUMAN	cAMP responsive element binding protein 3-like 4	343					response to unfolded protein	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(3)	13	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CCACAAGGACGTAACAGAAAA	0.532000													11	13					0	0	0.00136819	0	0
DDX24	57062	broad.mit.edu	37	14	94526450	94526450	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr14:94526450A>G	ENST00000330836.5	-	5	2038	c.1907T>C	c.(1906-1908)cTg>cCg	p.L636P	DDX24_ENST00000544005.1_Missense_Mutation_p.L386P|DDX24_ENST00000555054.1_Missense_Mutation_p.L593P	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	636	Helicase C-terminal.				RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		TTACTCTTCCAGACGGGCAAA	0.517000													29	44					0	0	0.000339439	0	0
TMEM104	54868	broad.mit.edu	37	17	72832537	72832537	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr17:72832537C>T	ENST00000335464.5	+	10	1364	c.1202C>T	c.(1201-1203)cCc>cTc	p.P401L	TMEM104_ENST00000417024.2_Intron|TMEM104_ENST00000582773.1_Intron|TMEM104_ENST00000582330.1_Missense_Mutation_p.P401L	NM_017728.3	NP_060198.3	Q8NE00	TM104_HUMAN	transmembrane protein 104	401						integral to membrane				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1)	19	all_lung(278;0.23)					GTCGTGTTTCCCACCATCACC	0.657000													16	26					0	0	0.000566183	0	0
HR	55806	broad.mit.edu	37	8	21986204	21986204	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr8:21986204G>A	ENST00000381418.4	-	2	1960	c.480C>T	c.(478-480)ccC>ccT	p.P160P	HR_ENST00000312841.8_Silent_p.P160P	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	160							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		GCAAGCAGGTGGGCACCCAGA	0.652000													4	7					0	0	0.000602214	0	0
ALK	238	broad.mit.edu	37	2	29917784	29917784	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:29917784G>A	ENST00000389048.3	-	3	1790	c.884C>T	c.(883-885)tCc>tTc	p.S295F	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	295	MAM 1.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	GGCCTCCTCGGAGGGGATGCG	0.617000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				30	68					0	0	0.00058488	0	0
EIF2B1	1967	broad.mit.edu	37	12	124114980	124114980	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:124114980G>A	ENST00000424014.2	-	3	424	c.216C>T	c.(214-216)ttC>ttT	p.F72F	EIF2B1_ENST00000543940.1_5'UTR|EIF2B1_ENST00000537073.1_Silent_p.F72F|EIF2B1_ENST00000539951.1_Silent_p.F59F	NM_001414.3	NP_001405.1	Q14232	EI2BA_HUMAN	eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa	72					cellular response to stimulus|oligodendrocyte development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex|membrane fraction|plasma membrane	protein binding|translation initiation factor activity			breast(1)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.67e-05)|Epithelial(86;0.000353)|all cancers(50;0.00489)		TGAAGCGGAGGAAGAGCTCCC	0.552000													15	21					0	0	0.000308642	0	0
AMDHD1	144193	broad.mit.edu	37	12	96350710	96350710	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:96350710C>T	ENST00000266736.2	+	4	663	c.557C>T	c.(556-558)gCt>gTt	p.A186V		NM_152435.2	NP_689648.2	Q96NU7	HUTI_HUMAN	amidohydrolase domain containing 1	186					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						GGCATCTCGGCTACCTACTGC	0.612000													37	83					0	0	0.000589545	0	0
OLFML2B	25903	broad.mit.edu	37	1	161953983	161953983	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:161953983G>A	ENST00000294794.3	-	8	2158	c.1735C>T	c.(1735-1737)Cgc>Tgc	p.R579C	OLFML2B_ENST00000367940.2_Missense_Mutation_p.R580C|OLFML2B_ENST00000367938.1_Missense_Mutation_p.R62C	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	579	Olfactomedin-like.									breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			GTGAAGGCGCGATTGTAGTAG	0.597000													16	37					0	0	0.000422831	0	0
AADACL2	344752	broad.mit.edu	37	3	151463442	151463442	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:151463442A>G	ENST00000356517.3	+	4	686	c.577A>G	c.(577-579)Aat>Gat	p.N193D		NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2	193						extracellular region|integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			TTCTGGGGGCAATTTAGCAAC	0.383000													25	44					0	0	0.000720815	0	0
FOXN1	8456	broad.mit.edu	37	17	26861983	26861983	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr17:26861983C>T	ENST00000226247.2	+	7	1423	c.1394C>T	c.(1393-1395)cCt>cTt	p.P465L	FOXN1_ENST00000579795.1_Missense_Mutation_p.P465L	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN	forkhead box N1	465					defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					CTGGCCCCTCCTGGACCCCCG	0.667000													5	13					0	0	0.000602214	0	0
IGSF1	3547	broad.mit.edu	37	X	130419413	130419413	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:130419413A>T	ENST00000370904.1	-	11	1290	c.380T>A	c.(379-381)aTt>aAt	p.I127N	IGSF1_ENST00000370910.1_Missense_Mutation_p.I127N|IGSF1_ENST00000370900.1_Missense_Mutation_p.I136N|IGSF1_ENST00000361420.3_Missense_Mutation_p.I136N|IGSF1_ENST00000370903.3_Missense_Mutation_p.I136N|IGSF1_ENST00000370901.4_Missense_Mutation_p.I136N			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	136					regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						CTCAGCCTGAATCCAGAAGAT	0.498000													33	52					0	0	0.000491102	0	0
RBL1	5933	broad.mit.edu	37	20	35668583	35668583	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr20:35668583G>A	ENST00000373664.3	-	14	1942	c.1876C>T	c.(1876-1878)Cga>Tga	p.R626*	RBL1_ENST00000344359.3_Nonsense_Mutation_p.R626*	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1 (p107)	626	Pocket; binds T and E1A.|Spacer.				cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				CTGTCAGTTCGAACTTCCTTG	0.413000													39	65					0	0	0.000509022	0	0
GPRASP1	9737	broad.mit.edu	37	X	101909676	101909676	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:101909676C>T	ENST00000537097.1	+	6	1648	c.835C>T	c.(835-837)Ccc>Tcc	p.P279S	GPRASP1_ENST00000415986.1_Missense_Mutation_p.P279S|GPRASP1_ENST00000444152.1_Missense_Mutation_p.P279S|GPRASP1_ENST00000361600.5_Missense_Mutation_p.P279S|RP4-769N13.7_ENST00000602441.1_RNA	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	279						cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						CAGGGAAGATCCCAATAGCAG	0.473000													57	86					0	0	0.000781405	0	0
KPNB1	3837	broad.mit.edu	37	17	45750523	45750523	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr17:45750523C>T	ENST00000290158.4	+	13	2094	c.1687C>T	c.(1687-1689)Cag>Tag	p.Q563*	KPNB1_ENST00000535458.2_Nonsense_Mutation_p.Q418*|KPNB1_ENST00000540627.1_Nonsense_Mutation_p.Q418*|KPNB1_ENST00000537679.1_Nonsense_Mutation_p.Q347*	NM_001276453.1|NM_002265.4	NP_001263382.1|NP_002256.2	Q14974	IMB1_HUMAN	karyopherin (importin) beta 1	563					DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein domain specific binding|zinc ion binding			breast(1)|ovary(1)|pancreas(1)|skin(1)	4						ACAGGTTCTTCAGATGGAGGT	0.443000													38	55					0	0	0.00148497	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187702078	187702078	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:187702078G>A	ENST00000295131.2	-	5	737	c.698C>T	c.(697-699)cCc>cTc	p.P233L		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	233					apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			GTTATTACAGGGAATCCCAAG	0.353000													19	43					0	0	0.00121646	0	0
RFPL2	10739	broad.mit.edu	37	22	32589013	32589013	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr22:32589013C>T	ENST00000400236.3	-	4	1367	c.162G>A	c.(160-162)atG>atA	p.M54I	RFPL2_ENST00000400237.1_Missense_Mutation_p.M144I|RFPL2_ENST00000248980.4_Missense_Mutation_p.M83I|RFPL2_ENST00000248983.4_Missense_Mutation_p.M54I|RFPL2_ENST00000489846.1_5'UTR	NM_001098527.2	NP_001091997.2	O75678	RFPL2_HUMAN	ret finger protein-like 2	144							zinc ion binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						TCCGAGAGACCATGGAAGAGC	0.527000													16	50					0	0	0.000958276	0	0
CDH23	64072	broad.mit.edu	37	10	73462447	73462447	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr10:73462447A>T	ENST00000224721.6	+	23	2749	c.2744A>T	c.(2743-2745)tAc>tTc	p.Y915F	CDH23_ENST00000299366.7_Missense_Mutation_p.Y955F	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	910	Cadherin 9.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GTCTCCATCTACCAAGTGAGT	0.562000													24	11					0	0	0.000586117	0	0
CLSPN	63967	broad.mit.edu	37	1	36225975	36225975	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:36225975G>A	ENST00000251195.5	-	8	1643	c.1547C>T	c.(1546-1548)tCc>tTc	p.S516F	CLSPN_ENST00000318121.3_Missense_Mutation_p.S516F|CLSPN_ENST00000520551.1_Missense_Mutation_p.S516F|CLSPN_ENST00000373220.3_Missense_Mutation_p.S516F			Q9HAW4	CLSPN_HUMAN	claspin	516					activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TATCACAAAGGAATCTTCATC	0.438000													13	29					0	0	0.000422831	0	0
XAB2	56949	broad.mit.edu	37	19	7692252	7692252	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:7692252G>A	ENST00000358368.4	-	4	436	c.399C>T	c.(397-399)ttC>ttT	p.F133F	XAB2_ENST00000534844.1_Silent_p.F130F	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	133					transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						GGGCACGGTCGAAGGTGCGGC	0.647000								Direct reversal of damage;Nucleotide excision repair (NER)					10	9					0	0	0.000673444	0	0
ZNF767	79970	broad.mit.edu	37	7	149317098	149317098	+	RNA	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr7:149317098G>A	ENST00000463567.1	-	0	516					NR_027788.1				zinc finger family member 767											central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)	5	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00434)			TTCAATCTGGGAGAGGACCTC	0.557000													14	30					0	0	0.000566183	0	0
FOXI1	2299	broad.mit.edu	37	5	169535126	169535126	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:169535126G>A	ENST00000306268.6	+	2	709	c.648G>A	c.(646-648)agG>agA	p.R216R	FOXI1_ENST00000449804.2_Intron			Q12951	FOXI1_HUMAN	forkhead box I1	216					epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	p.R216S(1)		breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCAGGAAAAGGAAGAGAAAAT	0.498000									Pendred syndrome				26	44					0	0	0.000878237	0	0
RBM44	375316	broad.mit.edu	37	2	238726978	238726978	+	Silent	SNP	T	T	G			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:238726978T>G	ENST00000316997.4	+	3	1551	c.1419T>G	c.(1417-1419)acT>acG	p.T473T	RBM44_ENST00000409864.1_Silent_p.T473T|RBM44_ENST00000444524.2_Intron	NM_001080504.2	NP_001073973.2	Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	472							nucleotide binding|RNA binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		ACGTTAGCACTGATTTTAGGG	0.378000													25	50					0	0	0.000720815	0	0
SPRR3	6707	broad.mit.edu	37	1	152975642	152975642	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:152975642G>A	ENST00000331860.3	+	3	296	c.146G>A	c.(145-147)gGa>gAa	p.G49E	SPRR3_ENST00000295367.4_Missense_Mutation_p.G49E|SPRR3_ENST00000542696.1_Missense_Mutation_p.G49E	NM_005416.2	NP_005407.1	Q9UBC9	SPRR3_HUMAN	small proline-rich protein 3	49	14 X 8 AA approximate tandem repeats.				keratinization|peptide cross-linking|wound healing	cytoplasm	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	11	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCACAACCTGGAAACACAAAG	0.547000													10	12					0	0	0.000673444	0	0
TAS2R8	50836	broad.mit.edu	37	12	10959048	10959048	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:10959048G>A	ENST00000240615.2	-	1	844	c.532C>T	c.(532-534)Cca>Tca	p.P178S		NM_023918.1	NP_076407.1	Q9NYW2	TA2R8_HUMAN	taste receptor, type 2, member 8	178					sensory perception of taste	integral to membrane	taste receptor activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TCAAAGTATGGTATTTTACTC	0.338000													20	32					0	0	0.00152264	0	0
IGHJ6	28475	broad.mit.edu	37	14	106329413	106329413	+	RNA	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr14:106329413G>A	ENST00000390560.2	-	0	55																											CTTACCTGAGGAGACGGTGAC	0.542000													8	19					0	0	0.00136819	0	0
ZNF254	9534	broad.mit.edu	37	19	24310482	24310482	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:24310482C>T	ENST00000357002.4	+	4	1795	c.1680C>T	c.(1678-1680)atC>atT	p.I560I	ZNF254_ENST00000342944.6_Silent_p.I475I	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	560					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				AGTCTTCAATCCTTACTAACC	0.343000													10	20					0	0	0.000673444	0	0
COL4A3	1285	broad.mit.edu	37	2	228155586	228155586	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:228155586G>A	ENST00000396578.3	+	37	3356	c.3194G>A	c.(3193-3195)gGa>gAa	p.G1065E	AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000433324.1_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	1065	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		ACAAGGCCAGGACCACCGGGA	0.498000													7	11					0	0	8.12818e-05	0	0
CLK2	1196	broad.mit.edu	37	1	155236605	155236605	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:155236605G>A	ENST00000368361.4	-	7	1068	c.753C>T	c.(751-753)ttC>ttT	p.F251F	CLK2_ENST00000497188.1_5'UTR|CLK2_ENST00000355560.4_Silent_p.F249F|CLK2_ENST00000536801.1_Silent_p.F251F|CLK2_ENST00000361168.5_Silent_p.F250F			P49760	CLK2_HUMAN	CDC-like kinase 2	251	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TGAGGAAATCGAAGGTGCTAA	0.547000								Other conserved DNA damage response genes					10	22					0	0	0.000673444	0	0
MORC4	79710	broad.mit.edu	37	X	106186394	106186394	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:106186394C>T	ENST00000355610.4	-	15	2001	c.1727G>A	c.(1726-1728)cGa>cAa	p.R576Q	MORC4_ENST00000535534.1_Missense_Mutation_p.R324Q|MORC4_ENST00000255495.7_Missense_Mutation_p.R576Q	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	Q8TE76	MORC4_HUMAN	MORC family CW-type zinc finger 4	576							ATP binding|zinc ion binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						GAGCCTTCTTCGTTTCTCCAC	0.438000													46	82					0	0	0.000781405	0	0
CASC1	55259	broad.mit.edu	37	12	25267737	25267737	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:25267737G>A	ENST00000354189.5	-	13	1673	c.1638C>T	c.(1636-1638)ttC>ttT	p.F546F	CASC1_ENST00000395990.2_Silent_p.F442F|CASC1_ENST00000537577.1_Silent_p.F370F|CASC1_ENST00000545133.1_Silent_p.F423F|CASC1_ENST00000557684.1_5'UTR|CASC1_ENST00000395987.3_Silent_p.F488F|CASC1_ENST00000320267.9_Silent_p.F482F	NM_001082972.1	NP_001076441.1	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1	482										breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			TGTCCAGGCTGAATGTTACAA	0.383000													21	46					0	0	0.000295444	0	0
ZNF224	7767	broad.mit.edu	37	19	44610560	44610560	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:44610560C>A	ENST00000336976.6	+	6	501	c.247C>A	c.(247-249)Caa>Aaa	p.Q83K	AC084219.4_ENST00000592946.1_RNA	NM_013398.2	NP_037530.2	Q9NZL3	ZN224_HUMAN	zinc finger protein 224	83					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19		Prostate(69;0.0435)				AGACAAGATCCAAACTGAGAT	0.408000													7	22					1.06961e-07	6.04132e-07	0.000157383	1	0
DNAH5	1767	broad.mit.edu	37	5	13891132	13891132	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:13891132G>A	ENST00000265104.4	-	17	2634	c.2530C>T	c.(2530-2532)Ccc>Tcc	p.P844S	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	844	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCCTCCTGGGGAAGCTGACAA	0.423000									Kartagener syndrome				72	106					0	0	0.000781405	0	0
TMEM104	54868	broad.mit.edu	37	17	72832536	72832536	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr17:72832536C>T	ENST00000335464.5	+	10	1363	c.1201C>T	c.(1201-1203)Ccc>Tcc	p.P401S	TMEM104_ENST00000417024.2_Intron|TMEM104_ENST00000582773.1_Intron|TMEM104_ENST00000582330.1_Missense_Mutation_p.P401S	NM_017728.3	NP_060198.3	Q8NE00	TM104_HUMAN	transmembrane protein 104	401						integral to membrane				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1)	19	all_lung(278;0.23)					CGTCGTGTTTCCCACCATCAC	0.657000													17	26					0	0	0.000958276	0	0
RPGR	6103	broad.mit.edu	37	X	38128894	38128894	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:38128894G>A	ENST00000339363.3	-	18	3215	c.3048C>T	c.(3046-3048)tcC>tcT	p.S1016S	RPGR_ENST00000318842.7_Silent_p.S811S|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000338898.3_3'UTR|RPGR_ENST00000309513.3_Silent_p.S749S			Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator	1016					intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						GTATTGTACAGGATTTTGATC	0.294000													31	73					0	0	0.000692331	0	0
MCCD1	401250	broad.mit.edu	37	6	31496962	31496962	+	Splice_Site	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:31496962G>A	ENST00000376191.2	+	1	469	c.171_splice	c.e1+1	p.R57_splice		NM_001011700.2	NP_001011700.2	P59942	MCCD1_HUMAN	mitochondrial coiled-coil domain 1	57						mitochondrion				skin(1)	1						CCCCTCCCAGGGTAAGTGGCA	0.567000													11	29					0	0	0.000978159	0	0
MCTP2	55784	broad.mit.edu	37	15	94986178	94986178	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr15:94986178G>A	ENST00000357742.4	+	18	2239	c.2239G>A	c.(2239-2241)Gaa>Aaa	p.E747K	MCTP2_ENST00000451018.3_Intron	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	747					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)			CGAGGAGGATGAAGATGACAA	0.398000													18	50					0	0	0.000229342	0	0
C5orf54	63920	broad.mit.edu	37	5	159822450	159822450	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:159822450G>A	ENST00000408953.3	-	2	555	c.48C>T	c.(46-48)ttC>ttT	p.F16F	C5orf54_ENST00000523213.1_Silent_p.F16F	NM_022090.3	NP_071373.2	Q8IZ13	CE054_HUMAN	chromosome 5 open reading frame 54	16										breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	12						ttgtacaggtgaaccagtagc	0.433000													29	79					0	0	0.001512	0	0
DSCAML1	57453	broad.mit.edu	37	11	117651308	117651308	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr11:117651308G>A	ENST00000321322.6	-	2	445	c.444C>T	c.(442-444)tcC>tcT	p.S148S	DSCAML1_ENST00000527706.1_Intron	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	88	Ig-like C2-type 2.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		AGGCGGAGGGGGAGAAGGGGT	0.622000													54	51					0	0	0.000781405	0	0
MUC16	94025	broad.mit.edu	37	19	9045944	9045944	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:9045944G>A	ENST00000397910.4	-	5	35890	c.35687C>T	c.(35686-35688)tCc>tTc	p.S11896F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11898	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						GACAGCAGGGGAAACAGTCAG	0.488000													34	69					0	0	0.00058488	0	0
CDK19	23097	broad.mit.edu	37	6	110988704	110988704	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:110988704G>A	ENST00000368911.3	-	4	568	c.389C>T	c.(388-390)tCc>tTc	p.S130F	CDK19_ENST00000323817.3_Missense_Mutation_p.S70F	NM_015076.3	NP_055891.1	Q9BWU1	CDK19_HUMAN	cyclin-dependent kinase 19	130	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)	22						GTAAAGTAAGGATTTAACCAT	0.308000													33	43					0	0	0.000953801	0	0
PKD1L1	168507	broad.mit.edu	37	7	47882569	47882569	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr7:47882569C>T	ENST00000289672.2	-	34	5486	c.5436G>A	c.(5434-5436)ttG>ttA	p.L1812L		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1812	PLAT.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CCTTTGAGGTCAACCTGGCCG	0.517000													20	59					0	0	0.000229342	0	0
ZFYVE16	9765	broad.mit.edu	37	5	79747353	79747353	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:79747353C>T	ENST00000338008.5	+	10	3612	c.3432C>T	c.(3430-3432)ctC>ctT	p.L1144L	ZFYVE16_ENST00000510158.1_Silent_p.L1144L|ZFYVE16_ENST00000505560.1_Silent_p.L1144L	NM_014733.3	NP_055548.3	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	1144					BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		AGAGTTTTCTCAGTAGCAAGG	0.303000													24	35					0	0	0.000720815	0	0
TTN	7273	broad.mit.edu	37	2	179396101	179396101	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:179396101C>T	ENST00000589042.1	-	358	105465	c.105241G>A	c.(105241-105243)Gaa>Aaa	p.E35081K	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E26016K|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E32513K|TTN_ENST00000591111.1_Missense_Mutation_p.E33440K|TTN-AS1_ENST00000585487.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E26208K|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E26141K|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000586831.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	33440							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)			GATTTCACTTCCCTGACAGAA	0.438000													43	61					0	0	0.000781405	0	0
ANK3	288	broad.mit.edu	37	10	61832232	61832232	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr10:61832232C>T	ENST00000280772.1	-	37	8598	c.8407G>A	c.(8407-8409)Gat>Aat	p.D2803N	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2803					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GAGCCAGAATCATTTACAACA	0.388000													25	21					0	0	0.000586117	0	0
CACNA1C	775	broad.mit.edu	37	12	2706657	2706657	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:2706657C>T	ENST00000480911.1	+	21	2873	c.2848C>T	c.(2848-2850)Ctt>Ttt	p.L950F	CACNA1C_ENST00000402845.3_Intron|CACNA1C_ENST00000399606.1_Missense_Mutation_p.L970F|CACNA1C_ENST00000347598.4_Missense_Mutation_p.L970F|CACNA1C_ENST00000399634.1_Intron|CACNA1C_ENST00000399601.1_Missense_Mutation_p.L950F|CACNA1C_ENST00000399638.1_Intron|CACNA1C_ENST00000399603.1_Intron|CACNA1C_ENST00000399617.1_Intron|CACNA1C_ENST00000327702.7_Missense_Mutation_p.L950F|CACNA1C_ENST00000399641.1_Missense_Mutation_p.L950F|CACNA1C_ENST00000399595.1_Intron|CACNA1C_ENST00000344100.3_Intron|CACNA1C_ENST00000399591.1_Missense_Mutation_p.L950F|CACNA1C_ENST00000399629.1_Missense_Mutation_p.L950F|CACNA1C_ENST00000406454.3_Intron|CACNA1C_ENST00000335762.5_Intron|CACNA1C_ENST00000399621.1_Intron|CACNA1C_ENST00000399597.1_Intron|CACNA1C_ENST00000399655.1_Intron|CACNA1C_ENST00000399644.1_Missense_Mutation_p.L950F|CACNA1C_ENST00000399637.1_Missense_Mutation_p.L950F|CACNA1C_ENST00000399649.1_Intron			Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	970					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	AGAAATTATCCTTAAGGTAAT	0.403000													12	18					0	0	0.000219431	0	0
CD6	923	broad.mit.edu	37	11	60785429	60785429	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr11:60785429C>T	ENST00000313421.7	+	11	1967	c.1781C>T	c.(1780-1782)tCc>tTc	p.S594F	CD6_ENST00000352009.5_Missense_Mutation_p.S562F|CD6_ENST00000346437.4_Missense_Mutation_p.S521F|CD6_ENST00000452451.2_Missense_Mutation_p.S553F|CD6_ENST00000344028.5_Missense_Mutation_p.S562F	NM_006725.4	NP_006716.3	P30203	CD6_HUMAN	CD6 molecule	594					cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						GAGAGGAGTTCCTTCCTGGAG	0.577000													20	13					0	0	0.000229342	0	0
CAMTA1	23261	broad.mit.edu	37	1	7724103	7724103	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:7724103G>A	ENST00000303635.7	+	9	1703	c.1496G>A	c.(1495-1497)gGg>gAg	p.G499E	CAMTA1_ENST00000439411.2_Missense_Mutation_p.G499E	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	499	Poly-Gly.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CAGACGTACGGGGGTGGAGGC	0.592000			T	WWTR1	epitheliod hemangioendothelioma								25	52					0	0	0.00178596	0	0
APOB	338	broad.mit.edu	37	2	21231221	21231221	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:21231221C>A	ENST00000233242.1	-	26	8646	c.8519G>T	c.(8518-8520)gGg>gTg	p.G2840V		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2840					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CATTTCACTCCCATGCTCCGT	0.418000													10	580					0.000442599	0.00247909	0.000442599	1	0
TRPM7	54822	broad.mit.edu	37	15	50897179	50897179	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr15:50897179A>G	ENST00000313478.7	-	21	3153	c.2872T>C	c.(2872-2874)Ttt>Ctt	p.F958L	TRPM7_ENST00000560955.1_Missense_Mutation_p.F958L	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	958					cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		CCAGCCACAAAAACATGATTA	0.328000													27	56					0	0	0.000878237	0	0
KRT15	3866	broad.mit.edu	37	17	39672221	39672221	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr17:39672221C>T	ENST00000254043.3	-	5	4527	c.942G>A	c.(940-942)atG>atA	p.M314I	KRT15_ENST00000393976.2_Missense_Mutation_p.M314I|KRT15_ENST00000393981.3_Missense_Mutation_p.M149I|KRT15_ENST00000393974.3_Missense_Mutation_p.M149I	NM_002275.3	NP_002266.2	P19012	K1C15_HUMAN	keratin 15	314	Coil 2.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				TGGTCTGGATCATTTCTGTGT	0.592000													46	110					0	0	0.000781405	0	0
CLEC16A	23274	broad.mit.edu	37	16	11219974	11219974	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr16:11219974C>T	ENST00000409790.1	+	22	2842	c.2612C>T	c.(2611-2613)tCc>tTc	p.S871F	CLEC16A_ENST00000381822.2_5'UTR|CLEC16A_ENST00000409552.3_Missense_Mutation_p.S853F	NM_015226.2	NP_056041.1	Q2KHT3	CL16A_HUMAN	C-type lectin domain family 16, member A	871								p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GTGCAGCGCTCCGTGTTTGCA	0.652000													13	25					0	0	0.000151284	0	0
SEPT6	23157	broad.mit.edu	37	X	118763465	118763465	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:118763465C>T	ENST00000394610.1	-	9	1360	c.1096G>A	c.(1096-1098)Gag>Aag	p.E366K	SEPT6_ENST00000467310.1_5'UTR|SEPT6_ENST00000354416.3_Missense_Mutation_p.E366K|SEPT6_ENST00000394617.2_Missense_Mutation_p.E396K|SEPT6_ENST00000489216.1_Missense_Mutation_p.E366K|SEPT6_ENST00000360156.7_Missense_Mutation_p.E366K|SEPT6_ENST00000354228.4_Missense_Mutation_p.E366K|SEPT6_ENST00000394616.4_Missense_Mutation_p.E308K|SEPT6_ENST00000343984.5_Missense_Mutation_p.E366K	NM_145799.3	NP_665798.1	Q14141	SEPT6_HUMAN	septin 6	366					cell cycle|cytokinesis|interspecies interaction between organisms	cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle	GTP binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3)	17						TCAAACTTCTCGTGCAGCTGG	0.537000			T	MLL	AML								26	38					0	0	0.00106085	0	0
CLEC4D	338339	broad.mit.edu	37	12	8673834	8673834	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:8673834G>A	ENST00000299665.2	+	6	808	c.615G>A	c.(613-615)agG>agA	p.R205R		NM_080387.4	NP_525126.2	Q8WXI8	CLC4D_HUMAN	C-type lectin domain family 4, member D	205	C-type lectin.				innate immune response	integral to membrane	sugar binding			large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Lung SC(5;0.184)					AAGCAAGTAGGATTTGTAAAA	0.368000													34	66					0	0	0.00058488	0	0
PTPN7	5778	broad.mit.edu	37	1	202121710	202121710	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:202121710C>T	ENST00000309017.3	-	8	1923	c.1150G>A	c.(1150-1152)Gag>Aag	p.E384K	PTPN7_ENST00000367279.4_Missense_Mutation_p.E318K|PTPN7_ENST00000544762.1_Missense_Mutation_p.E55K|PTPN7_ENST00000543735.1_Missense_Mutation_p.E108K|PTPN7_ENST00000492977.1_5'UTR|PTPN7_ENST00000308986.5_Missense_Mutation_p.E279K	NM_001199797.1|NM_002832.3	NP_001186726.1|NP_002823.3	P35236	PTN7_HUMAN	protein tyrosine phosphatase, non-receptor type 7	279						cytosol|internal side of plasma membrane	protein binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|soft_tissue(1)|urinary_tract(1)	13						GCGGCTGTCTCCGGGCTCTCC	0.657000													8	16					0	0	0.000274275	0	0
ZNF99	7652	broad.mit.edu	37	19	22939118	22939118	+	Missense_Mutation	SNP	T	T	A	rs74170732		TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:22939118T>A	ENST00000397104.3	-	8	3002	c.3003A>T	c.(3001-3003)aaA>aaT	p.K1001N						zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TATGAATTGTTTTATGTTGAG	0.368000													15	5					0	0	0.000422831	0	0
KCNAB3	9196	broad.mit.edu	37	17	7827774	7827774	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr17:7827774G>A	ENST00000303790.2	-	9	669	c.670C>T	c.(670-672)Cta>Tta	p.L224L		NM_004732.3	NP_004723.2	O43448	KCAB3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 3	224						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity	p.L224I(1)		breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	8		Prostate(122;0.157)				CCCCAGTATAGGGCCAGGCCC	0.557000													16	28					0	0	0.00074312	0	0
IL22RA1	58985	broad.mit.edu	37	1	24447335	24447335	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:24447335A>T	ENST00000270800.1	-	7	1723	c.1685T>A	c.(1684-1686)cTt>cAt	p.L562H		NM_021258.3	NP_067081.2	Q8N6P7	I22R1_HUMAN	interleukin 22 receptor, alpha 1	562						integral to membrane	interferon receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		GCCTCTGAAAAGAGAATCCAG	0.602000													21	36					0	0	0.00106085	0	0
MAOB	4129	broad.mit.edu	37	X	43661466	43661466	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:43661466C>T	ENST00000378069.4	-	5	576	c.429G>A	c.(427-429)tgG>tgA	p.W143*	MAOB_ENST00000487544.1_5'UTR|MAOB_ENST00000538942.1_Nonsense_Mutation_p.W127*|MAOB_ENST00000536181.1_Nonsense_Mutation_p.W127*	NM_000898.4	NP_000889.3	P27338	AOFB_HUMAN	monoamine oxidase B	143					xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	electron carrier activity|primary amine oxidase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5)	21					Amantadine(DB00915)|Bupropion(DB01156)|Carbidopa(DB00190)|Citalopram(DB00215)|Dopamine(DB00988)|Entacapone(DB00494)|Furazolidone(DB00614)|Ginkgo biloba(DB01381)|Ibuprofen(DB01050)|Imipramine(DB00458)|Iproniazid(DB04818)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Maprotiline(DB00934)|Meclizine(DB00737)|Moclobemide(DB01171)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Rasagiline(DB01367)|Selegiline(DB01037)|Tranylcypromine(DB00752)	TCATGTTGTCCCACTCTTCTG	0.438000													7	14					0	0	0.000274275	0	0
SLC26A9	115019	broad.mit.edu	37	1	205899142	205899142	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:205899142G>A	ENST00000367135.3	-	6	708	c.595C>T	c.(595-597)Ctc>Ttc	p.L199F	SLC26A9_ENST00000340781.4_Missense_Mutation_p.L199F|SLC26A9_ENST00000367134.2_Missense_Mutation_p.L199F	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	199						integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			GACTCGGAGAGGTAGATGGCC	0.562000													8	30					0	0	0.000274275	0	0
HMGXB4	10042	broad.mit.edu	37	22	35660647	35660647	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr22:35660647C>T	ENST00000216106.5	+	5	394	c.266C>T	c.(265-267)tCg>tTg	p.S89L	HMGXB4_ENST00000444518.2_5'UTR	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN	HMG box domain containing 4	89					endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	NURF complex	DNA binding			breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTAGATATTTCGTCTTTGGAA	0.403000													113	32					0	0	0.000781405	0	0
CD1C	911	broad.mit.edu	37	1	158262012	158262012	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:158262012G>A	ENST00000368170.3	+	3	746	c.467G>A	c.(466-468)gGa>gAa	p.G156E		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	156					antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					CCAGGCTGTGGAAGTTTGGCC	0.448000													65	122					0	0	0.000781405	0	0
WWC3	55841	broad.mit.edu	37	X	10096186	10096186	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:10096186C>T	ENST00000380861.4	+	16	2656	c.2265C>T	c.(2263-2265)tcC>tcT	p.S755S	WWC3_ENST00000454666.1_Silent_p.S755S	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	755										NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						ACACCATCTCCATCTCCGGCA	0.587000													19	35					0	0	0.000295444	0	0
MYO1G	64005	broad.mit.edu	37	7	45005329	45005329	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr7:45005329C>T	ENST00000258787.7	-	17	2424	c.2288G>A	c.(2287-2289)aGg>aAg	p.R763K		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	763						myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						TGGCGGCTGCCTTGCAGCCTG	0.647000													13	25					0	0	0.00136819	0	0
HEATR3	55027	broad.mit.edu	37	16	50136199	50136199	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr16:50136199C>T	ENST00000299192.7	+	14	1964	c.1773C>T	c.(1771-1773)acC>acT	p.T591T	HEATR3_ENST00000285767.4_Silent_p.T505T|RP11-429P3.5_ENST00000566770.1_RNA	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	591							binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						TTGAAGTTACCACCAAAGATC	0.418000													29	67					0	0	0.00178596	0	0
ZBTB46	140685	broad.mit.edu	37	20	62421499	62421499	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr20:62421499C>T	ENST00000245663.4	-	2	762	c.612G>A	c.(610-612)aaG>aaA	p.K204K	ZBTB46_ENST00000395104.1_Silent_p.K204K|ZBTB46_ENST00000302995.2_Silent_p.K204K	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	204					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					GGCCATCGGCCTTGGGCTCCT	0.602000													8	25					0	0	0.000274275	0	0
HDAC9	9734	broad.mit.edu	37	7	18669046	18669046	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr7:18669046C>T	ENST00000406451.3	+	7	879	c.729C>T	c.(727-729)ctC>ctT	p.L243L	HDAC9_ENST00000417496.2_Intron|HDAC9_ENST00000428307.2_Intron|HDAC9_ENST00000405010.3_Silent_p.L243L|HDAC9_ENST00000406072.1_Intron|HDAC9_ENST00000401921.1_Intron|HDAC9_ENST00000524023.1_Intron|HDAC9_ENST00000432645.2_Silent_p.L243L|HDAC9_ENST00000441542.2_Silent_p.L246L|HDAC9_ENST00000456174.2_Silent_p.L215L	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	243	Interaction with ETV6.|Interaction with MAPK10 (By similarity).				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	GCCCCTTACTCAGGCGGAAGG	0.473000													29	24					0	0	0.00127121	0	0
KBTBD6	89890	broad.mit.edu	37	13	41705314	41705314	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr13:41705314G>A	ENST00000379485.1	-	1	1568	c.1334C>T	c.(1333-1335)cCt>cTt	p.P445L	KBTBD6_ENST00000499385.2_Missense_Mutation_p.P379L	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	445							protein binding			NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		TCCAGTAATAGGGTCTCGCCC	0.468000													34	51					0	0	0.000814825	0	0
SRRM2	23524	broad.mit.edu	37	16	2812815	2812815	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr16:2812815C>T	ENST00000301740.8	+	11	2835	c.2286C>T	c.(2284-2286)ctC>ctT	p.L762L		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	762	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GCAGGTCTCTCTCTTCACCAC	0.488000													48	97					0	0	0.000781405	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				68	53					0	0	0.000781405	0	0
DSCAML1	57453	broad.mit.edu	37	11	117302311	117302311	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr11:117302311G>A	ENST00000321322.6	-	31	5494	c.5493C>T	c.(5491-5493)tcC>tcT	p.S1831S	DSCAML1_ENST00000527706.1_Silent_p.S1561S	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1771					axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CACCATGCTGGGAGCCCACGG	0.647000													25	16					0	0	0.000375601	0	0
C8orf47	203111	broad.mit.edu	37	8	99102037	99102037	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr8:99102037G>A	ENST00000318528.3	+	2	1151	c.792G>A	c.(790-792)gaG>gaA	p.E264E	C8orf47_ENST00000545282.1_Intron	NM_173549.2	NP_775820.2	Q6P6B1	CH047_HUMAN	chromosome 8 open reading frame 47	264	Glu-rich.									kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(2)	13	Breast(36;2.31e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.214)			TTCCCAAAGAGAATGTAACAC	0.448000													15	13					0	0	0.000422831	0	0
PKP4	8502	broad.mit.edu	37	2	159522971	159522971	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:159522971C>T	ENST00000389757.3	+	16	2749	c.2624C>T	c.(2623-2625)cCc>cTc	p.P875L	PKP4_ENST00000389759.3_Missense_Mutation_p.P875L|PKP4_ENST00000495123.1_3'UTR|AC005042.4_ENST00000342892.4_RNA	NM_001005476.1	NP_001005476.1	Q99569	PKP4_HUMAN	plakophilin 4	875					cell adhesion	desmosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						AAGGGGCTCCCCATCCTTGTG	0.463000										HNSCC(62;0.18)			36	86					0	0	0.00111076	0	0
DCHS2	54798	broad.mit.edu	37	4	155219727	155219727	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr4:155219727C>T	ENST00000357232.3	-	18	4373	c.4374G>A	c.(4372-4374)agG>agA	p.R1458R		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1458	Cadherin 12.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TTACAGAGCTCCTAGGTGGAT	0.473000													37	20					0	0	0.00111076	0	0
MYO15A	51168	broad.mit.edu	37	17	18022910	18022910	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr17:18022910C>T	ENST00000205890.5	+	2	1134	c.796C>T	c.(796-798)Ccc>Tcc	p.P266S		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	266	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GGGCCTCGGCCCCTACAGCCC	0.647000													10	22					0	0	0.000978159	0	0
QPCT	25797	broad.mit.edu	37	2	37586815	37586815	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:37586815C>T	ENST00000338415.3	+	3	518	c.360C>T	c.(358-360)ttC>ttT	p.F120F	QPCT_ENST00000537448.1_Silent_p.F71F	NM_012413.3	NP_036545.1	Q16769	QPCT_HUMAN	glutaminyl-peptide cyclotransferase	120					peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	extracellular region	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|stomach(2)	17		Ovarian(717;0.051)|all_hematologic(82;0.21)				ACCGGTCTTTCTCAAATATCA	0.478000													19	26					0	0	0.00074312	0	0
GCM1	8521	broad.mit.edu	37	6	52993716	52993716	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:52993716C>T	ENST00000259803.7	-	6	810	c.599G>A	c.(598-600)gGg>gAg	p.G200E		NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN	glial cells missing homolog 1 (Drosophila)	200						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					AGGTAAACTCCCCTGACTTTG	0.428000													26	62					0	0	0.00178596	0	0
ZP4	57829	broad.mit.edu	37	1	238050115	238050115	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:238050115C>T	ENST00000366570.4	-	6	953	c.795G>A	c.(793-795)gtG>gtA	p.V265V	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	265	ZP.				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			TCCCATTTTTCACATCCCTAG	0.468000													34	97					0	0	0.000814825	0	0
RNF213	57674	broad.mit.edu	37	17	78268774	78268774	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr17:78268774G>T	ENST00000582970.1	+	9	1870	c.1727G>T	c.(1726-1728)tGg>tTg	p.W576L	RNF213_ENST00000508628.2_Missense_Mutation_p.W625L|RNF213_ENST00000456466.1_Missense_Mutation_p.W576L|RNF213_ENST00000319921.4_Missense_Mutation_p.W576L	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	576										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GCACAGCTGTGGACCGATTTG	0.542000													15	45					3.52763e-06	1.98942e-05	0.000566183	1	0
SATL1	340562	broad.mit.edu	37	X	84349220	84349220	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:84349220C>T	ENST00000509231.1	-	4	1869	c.1790G>A	c.(1789-1791)gGa>gAa	p.G597E	SATL1_ENST00000395409.3_Missense_Mutation_p.G410E|SATL1_ENST00000332921.5_Missense_Mutation_p.G410E			Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1	410							N-acetyltransferase activity			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						CATGGCAAATCCAACAGTCAG	0.403000													30	60					0	0	0.000491102	0	0
QSER1	79832	broad.mit.edu	37	11	32995058	32995058	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr11:32995058C>T	ENST00000399302.2	+	11	5269	c.4934C>T	c.(4933-4935)aCt>aTt	p.T1645I	QSER1_ENST00000527788.1_Missense_Mutation_p.T1406I	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	1645										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					AATAAGAAAACTCTAAGGACT	0.303000													28	35					0	0	0.000409698	0	0
DNAH11	8701	broad.mit.edu	37	7	21628202	21628202	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr7:21628202G>A	ENST00000328843.6	+	11	1952	c.1921G>A	c.(1921-1923)Gtt>Att	p.V641I	DNAH11_ENST00000409508.3_Missense_Mutation_p.V641I			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	641	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GGCCCAGCAGGTTCTCCAACG	0.403000									Kartagener syndrome				111	73					0	0	0.000781405	0	0
EPHA6	285220	broad.mit.edu	37	3	96706601	96706601	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:96706601C>T	ENST00000389672.5	+	3	916	c.878C>T	c.(877-879)tCa>tTa	p.S293L	EPHA6_ENST00000470610.2_Missense_Mutation_p.S293L|EPHA6_ENST00000542517.1_Missense_Mutation_p.S199L	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	198						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						GCCCTGGTTTCAGTCCGTGTT	0.448000													97	138					0	0	0.000781405	0	0
C21orf59	56683	broad.mit.edu	37	21	33975427	33975427	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr21:33975427G>A	ENST00000382549.4	-	5	1052	c.710C>T	c.(709-711)tCc>tTc	p.S237F	C21ORF59_ENST00000607686.1_Intron|C21orf59_ENST00000290155.3_Intron|C21orf59_ENST00000540881.1_Missense_Mutation_p.S181F			P57076	CU059_HUMAN	chromosome 21 open reading frame 59	0						cytosol|nucleus				endometrium(2)|large_intestine(1)|prostate(1)|skin(1)	5						AGTTTGAAGGGAAATAACAAA	0.318000													14	34					0	0	0.000151284	0	0
SRCRB4D	136853	broad.mit.edu	37	7	76026865	76026865	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr7:76026865G>A	ENST00000275560.3	-	6	1185	c.838C>T	c.(838-840)Cac>Tac	p.H280Y	ZP3_ENST00000336517.4_5'UTR	NM_080744.1	NP_542782.1	Q8WTU2	SRB4D_HUMAN	scavenger receptor cysteine rich domain containing, group B (4 domains)	280	SRCR 2.					extracellular region|membrane	scavenger receptor activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						TCCTCGTGGTGGCCGCAGTTG	0.736000													5	4					0	0	0.000602214	0	0
SMARCC2	6601	broad.mit.edu	37	12	56566415	56566415	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:56566415A>G	ENST00000394023.3	-	19	1922	c.1817T>C	c.(1816-1818)tTt>tCt	p.F606S	SMARCC2_ENST00000267064.4_Missense_Mutation_p.F575S|SMARCC2_ENST00000347471.4_Missense_Mutation_p.F606S|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000550164.1_Missense_Mutation_p.F606S	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	575	SANT.				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			GCGCAGCCCAAAGTTTTGCAT	0.488000													32	51					0	0	0.000339439	0	0
OR51A2	401667	broad.mit.edu	37	11	4976637	4976637	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr11:4976637C>T	ENST00000380371.1	-	1	306	c.307G>A	c.(307-309)Gaa>Aaa	p.E103K	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004748.1	NP_001004748.1	Q8NGJ7	O51A2_HUMAN	olfactory receptor, family 51, subfamily A, member 2	103					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATGAAGAATTCCTGGGCAAAG	0.448000													56	26					0	0	0.000781405	0	0
SLC35C2	51006	broad.mit.edu	37	20	44987131	44987131	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr20:44987131G>A	ENST00000372227.1	-	2	555	c.15C>T	c.(13-15)gcC>gcT	p.A5A	SLC35C2_ENST00000317734.8_Silent_p.A5A|SLC35C2_ENST00000243896.2_Silent_p.A5A|SLC35C2_ENST00000372229.1_Intron|SLC35C2_ENST00000543605.1_Silent_p.A34A|SLC35C2_ENST00000372230.5_Silent_p.A5A			Q9NQQ7	S35C2_HUMAN	solute carrier family 35 (GDP-fucose transporter), member C2	5					transport	integral to membrane				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	16		Myeloproliferative disorder(115;0.0122)				CCACATCGAGGGCCCACCTCC	0.597000													12	29					0	0	0.000151284	0	0
DNAH11	8701	broad.mit.edu	37	7	21628203	21628203	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr7:21628203T>A	ENST00000328843.6	+	11	1953	c.1922T>A	c.(1921-1923)gTt>gAt	p.V641D	DNAH11_ENST00000409508.3_Missense_Mutation_p.V641D			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	641	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GCCCAGCAGGTTCTCCAACGA	0.408000									Kartagener syndrome				110	71					0	0	0.000781405	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43862502	43862502	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:43862502G>A	ENST00000389420.3	-	8	1123	c.1124C>T	c.(1123-1125)tCa>tTa	p.S375L	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.S375L	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	375	Peptidase M12B.					proteinaceous extracellular matrix	zinc ion binding	p.S375L(2)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		ACCTAAATATGATAAACCTGA	0.308000													29	34					0	0	0.001512	0	0
RELN	5649	broad.mit.edu	37	7	103276823	103276823	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr7:103276823G>A	ENST00000424685.2	-	18	2321	c.2162C>T	c.(2161-2163)tCc>tTc	p.S721F	RELN_ENST00000343529.5_Missense_Mutation_p.S721F|RELN_ENST00000428762.1_Missense_Mutation_p.S721F			P78509	RELN_HUMAN	reelin	721					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ATGGTAAGAGGAGAGCCTGGA	0.488000													32	32					0	0	0.000491102	0	0
PCDHB5	26167	broad.mit.edu	37	5	140517259	140517259	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:140517259A>T	ENST00000231134.5	+	1	2460	c.2243A>T	c.(2242-2244)tAc>tTc	p.Y748F		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		748					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCCAGAGCTACCACTACGAG	0.632000													53	95					0	0	0.000781405	0	0
AGO1	26523	broad.mit.edu	37	1	36359681	36359681	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:36359681C>T	ENST00000373204.4	+	6	906	c.693C>T	c.(691-693)ttC>ttT	p.F231F	AGO1_ENST00000373206.1_Silent_p.F156F	NM_012199.2	NP_036331.1			argonaute RISC catalytic component 1																		TGATTGAGTTCATGTGTGAGG	0.527000													29	44					0	0	0.000409698	0	0
SLIT2	9353	broad.mit.edu	37	4	20611774	20611774	+	Silent	SNP	T	T	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr4:20611774T>A	ENST00000504154.1	+	34	4083	c.3831T>A	c.(3829-3831)tcT>tcA	p.S1277S	SLIT2_ENST00000503837.1_Silent_p.S1273S|SLIT2_ENST00000273739.5_Silent_p.S1290S|SLIT2_ENST00000503823.1_Silent_p.S1269S	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1277	Laminin G-like.		S -> F.		apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						ATTTTGACTCTCCACTCTATG	0.428000													28	22					0	0	0.000878237	0	0
RANBP17	64901	broad.mit.edu	37	5	170667979	170667979	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:170667979C>T	ENST00000523189.1	+	23	2634	c.2470C>T	c.(2470-2472)Cca>Tca	p.P824S	RANBP17_ENST00000521759.1_3'UTR	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	824					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TCAGATTTATCCAATGAAACT	0.418000			T	TRD@	ALL								59	93					0	0	0.000781405	0	0
GPR176	11245	broad.mit.edu	37	15	40099246	40099246	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr15:40099246G>A	ENST00000299092.3	-	3	581	c.383C>T	c.(382-384)tCt>tTt	p.S128F	GPR176_ENST00000560729.1_5'UTR|GPR176_ENST00000561100.1_Missense_Mutation_p.S129F|GPR176_ENST00000543580.1_Missense_Mutation_p.S84F	NM_001271854.1|NM_001271855.1	NP_001258783.1|NP_001258784.1	Q14439	GP176_HUMAN	G protein-coupled receptor 176	129					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)	23		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)		GATGGTCACAGAGCAGAATAC	0.433000													65	101					0	0	0.000781405	0	0
RPH3AL	9501	broad.mit.edu	37	17	97003	97003	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr17:97003C>T	ENST00000323434.8	-	6	1022	c.425G>A	c.(424-426)cGa>cAa	p.R142Q	RPH3AL_ENST00000576001.1_5'UTR|RPH3AL_ENST00000331302.7_Missense_Mutation_p.R171Q|RPH3AL_ENST00000536489.2_Missense_Mutation_p.R142Q	NM_001190412.1	NP_001177341.1	Q9UNE2	RPH3L_HUMAN	rabphilin 3A-like (without C2 domains)	171	RabBD.				exocytosis|intracellular protein transport	transport vesicle membrane	cytoskeletal protein binding|Rab GTPase binding|zinc ion binding			NS(2)|breast(1)|kidney(1)|large_intestine(1)|skin(1)	6				UCEC - Uterine corpus endometrioid carcinoma (25;0.023)|all cancers(1;4.96e-06)|Epithelial(1;2.86e-05)|BRCA - Breast invasive adenocarcinoma(1;0.00453)|OV - Ovarian serous cystadenocarcinoma(1;0.0716)|LUAD - Lung adenocarcinoma(1115;0.102)|COAD - Colon adenocarcinoma(4;0.107)		GTCATCAGCTCGGCCAGGGGT	0.622000													12	25					0	0	0.00136819	0	0
TLN2	83660	broad.mit.edu	37	15	63058542	63058542	+	Missense_Mutation	SNP	C	C	T	rs142261304		TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr15:63058542C>T	ENST00000561311.1	+	40	5347	c.5117C>T	c.(5116-5118)tCg>tTg	p.S1706L	TLN2_ENST00000472902.1_Missense_Mutation_p.S99L|TLN2_ENST00000306829.6_Missense_Mutation_p.S1706L			Q9Y4G6	TLN2_HUMAN	talin 2	1706					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						CAGCTGACTTCGGTGGTCCAG	0.557000													21	36					0	0	0.000295444	0	0
AKAP4	8852	broad.mit.edu	37	X	49955652	49955652	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:49955652C>T	ENST00000376056.2	-	6	2639	c.2489G>A	c.(2488-2490)gGa>gAa	p.G830E	AKAP4_ENST00000376058.2_Missense_Mutation_p.G456E|AKAP4_ENST00000358526.2_Missense_Mutation_p.G839E|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376064.3_Missense_Mutation_p.G830E			Q5JQC9	AKAP4_HUMAN	A kinase (PRKA) anchor protein 4	839					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					GGCCACCTTTCCCACAGCTTC	0.527000													18	57					0	0	0.00074312	0	0
PLD1	5337	broad.mit.edu	37	3	171330184	171330184	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:171330184G>A	ENST00000356327.5	-	24	2723	c.2653C>T	c.(2653-2655)Cgt>Tgt	p.R885C	PLD1_ENST00000342215.6_3'UTR|PLD1_ENST00000351298.4_Missense_Mutation_p.R923C|PLD1_ENST00000340989.4_Missense_Mutation_p.R923C	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	923	Catalytic.				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	TCACTGTCACGCTTTCCCAGC	0.507000													25	37					0	0	0.000878237	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110451187	110451187	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr8:110451187G>A	ENST00000378402.5	+	32	3926	c.3822G>A	c.(3820-3822)gcG>gcA	p.A1274A		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1274	IPT/TIG 6.				immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.A1276A(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AAAACATGGCGGTGTATGTTG	0.338000										HNSCC(38;0.096)			30	35					0	0	0.00106085	0	0
CEP76	79959	broad.mit.edu	37	18	12699056	12699056	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr18:12699056G>A	ENST00000262127.2	-	4	667	c.442C>T	c.(442-444)Cgt>Tgt	p.R148C	CEP76_ENST00000423709.2_Intron|RP11-973H7.2_ENST00000585331.1_RNA|CEP76_ENST00000586887.1_5'UTR	NM_024899.2	NP_079175.2	Q8TAP6	CEP76_HUMAN	centrosomal protein 76kDa	148					G2/M transition of mitotic cell cycle|regulation of centriole replication	centriole|cytosol	protein binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GGTTTAGAACGAAAACGTTGG	0.373000													27	13					0	0	0.00106085	0	0
SERPINA12	145264	broad.mit.edu	37	14	94964174	94964174	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr14:94964174C>T	ENST00000341228.2	-	3	1356	c.561G>A	c.(559-561)ggG>ggA	p.G187G	SERPINA12_ENST00000556881.1_Silent_p.G187G	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	187					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		TGTTAATTTTCCCATGGGTTT	0.403000													31	82					0	0	0.00178596	0	0
PBDC1	51260	broad.mit.edu	37	X	75397606	75397606	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:75397606A>G	ENST00000373358.3	+	6	768	c.565A>G	c.(565-567)Aat>Gat	p.N189D	PBDC1_ENST00000373357.3_Silent_p.R151R	NM_016500.3	NP_057584.2			polysaccharide biosynthesis domain containing 1																		gaacaccaagaatggaggaga	0.418000													7	11					0	0	8.12818e-05	0	0
CDH6	1004	broad.mit.edu	37	5	31313484	31313484	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:31313484G>A	ENST00000265071.2	+	8	1578	c.1313G>A	c.(1312-1314)gGt>gAt	p.G438D	CDH6_ENST00000514738.1_Missense_Mutation_p.G383D	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	438	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TCTGGAAATGGTTCGATTTTT	0.388000													53	55					0	0	0.000781405	0	0
LILRA3	11026	broad.mit.edu	37	19	54802162	54802162	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:54802162C>T	ENST00000391745.1	-	10	1393	c.1077G>A	c.(1075-1077)gtG>gtA	p.V359V	LILRA3_ENST00000251390.3_Silent_p.V342V|LILRA3_ENST00000391744.3_Silent_p.V278V					leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3											NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ACAGCAGGGTCACGTTCTCTC	0.607000													10	31					0	0	0.000673444	0	0
DPYD	1806	broad.mit.edu	37	1	98060687	98060687	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:98060687C>T	ENST00000370192.3	-	9	986	c.886G>A	c.(886-888)Ggc>Agc	p.G296S		NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	296					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	TGCGTCAGGCCTTGGAAGATG	0.373000													33	74					0	0	0.00128727	0	0
HS3ST4	9951	broad.mit.edu	37	16	26147380	26147380	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr16:26147380C>T	ENST00000331351.5	+	2	1574	c.1182C>T	c.(1180-1182)ttC>ttT	p.F394F	HS3ST4_ENST00000475436.1_3'UTR	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	394					heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		CCAAGGGGTTCCCTTGCCTAA	0.512000													14	11					0	0	0.000219431	0	0
ZNF549	256051	broad.mit.edu	37	19	58046568	58046568	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:58046568C>T	ENST00000602149.1	+	3	277	c.129C>T	c.(127-129)ctC>ctT	p.L43L	ZNF549_ENST00000594943.1_Intron|ZNF549_ENST00000240719.3_Silent_p.L30L|ZNF549_ENST00000376233.3_Silent_p.L43L			Q6P9A3	ZN549_HUMAN	zinc finger protein 549	43	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AGTGGGGCCTCCTTGATGAAG	0.493000													31	58					0	0	0.001512	0	0
CPS1	1373	broad.mit.edu	37	2	211455618	211455618	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:211455618C>T	ENST00000233072.5	+	9	1131	c.935C>T	c.(934-936)tCc>tTc	p.S312F	CPS1_ENST00000430249.2_Missense_Mutation_p.S318F	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	312	Glutamine amidotransferase type-1.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		TACAAGATGTCCATGGCCAAC	0.408000													34	70					0	0	0.000491102	0	0
ARHGEF9	23229	broad.mit.edu	37	X	62875602	62875602	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:62875602C>T	ENST00000253401.6	-	8	1872	c.1072G>A	c.(1072-1074)Gac>Aac	p.D358N	ARHGEF9_ENST00000433323.2_Missense_Mutation_p.D85N|ARHGEF9_ENST00000374878.1_Missense_Mutation_p.D356N|ARHGEF9_ENST00000437457.2_Missense_Mutation_p.D305N|ARHGEF9_ENST00000374870.4_Missense_Mutation_p.D256N|ARHGEF9_ENST00000495564.1_5'UTR|ARHGEF9_ENST00000374872.1_Missense_Mutation_p.D337N	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN	Cdc42 guanine nucleotide exchange factor (GEF) 9	358	PH.				apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						TACAGGATGTCTCTCCGGATT	0.468000													60	108					0	0	0.000781405	0	0
GABRP	2568	broad.mit.edu	37	5	170239061	170239061	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:170239061C>T	ENST00000518525.1	+	11	1586	c.1122C>T	c.(1120-1122)tcC>tcT	p.S374S	GABRP_ENST00000265294.4_Silent_p.S374S|GABRP_ENST00000519385.1_3'UTR			O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	374						cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TTGAAATTTCCAGCGACAACG	0.403000													21	44					0	0	0.00121646	0	0
PLA2G4D	283748	broad.mit.edu	37	15	42363686	42363686	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr15:42363686C>T	ENST00000290472.3	-	16	1731	c.1637G>A	c.(1636-1638)gGg>gAg	p.G546E		NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)	546	PLA2c.				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		CCAGGACTCCCCAGAACTGGT	0.557000													13	21					0	0	0.000308642	0	0
CSMD2	114784	broad.mit.edu	37	1	34033298	34033298	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:34033298C>T	ENST00000373381.4	-	53	8451	c.8275G>A	c.(8275-8277)Ggc>Agc	p.G2759S		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2736	Sushi 18.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				ACCACACTGCCCCGGTAGCTG	0.567000													5	20					0	0	0.000602214	0	0
NPSR1	387129	broad.mit.edu	37	7	34851447	34851447	+	Silent	SNP	C	C	T	rs116733850	byFrequency	TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr7:34851447C>T	ENST00000360581.1	+	4	578	c.450C>T	c.(448-450)atC>atT	p.I150I	NPSR1_ENST00000359791.1_Silent_p.I150I|NPSR1_ENST00000531252.1_Silent_p.I139I|NPSR1_ENST00000381542.1_Intron|NPSR1_ENST00000381539.3_Silent_p.I150I	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	150						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	ACCATGCCATCGTCTACCCCA	0.468000													82	75					0	0	0.000781405	0	0
EIF4E2	9470	broad.mit.edu	37	2	233422643	233422643	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:233422643T>A	ENST00000409514.1	+	3	227	c.185T>A	c.(184-186)tTt>tAt	p.F62Y	EIF4E2_ENST00000409394.1_Intron|EIF4E2_ENST00000409098.1_Missense_Mutation_p.F62Y|EIF4E2_ENST00000258416.3_Missense_Mutation_p.F62Y|EIF4E2_ENST00000409495.1_Missense_Mutation_p.F62Y|EIF4E2_ENST00000409322.1_Intron|EIF4E2_ENST00000409167.3_Intron			O60573	IF4E2_HUMAN	eukaryotic translation initiation factor 4E family member 2	62					regulation of translation	cytoplasm|mRNA cap binding complex	RNA cap binding|translation initiation factor activity|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;2.3e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000912)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		AACTACACTTTTTGGTACTCC	0.522000													40	49					0	0	0.00170553	0	0
OR4K14	122740	broad.mit.edu	37	14	20482421	20482421	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr14:20482421C>T	ENST00000305045.2	-	1	931	c.932G>A	c.(931-933)tGa>tAa	p.*311*		NM_001004712.1	NP_001004712.1	Q8NGD5	OR4KE_HUMAN	olfactory receptor, family 4, subfamily K, member 14	0					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		GGCTGGATTTCATTGAAAAGT	0.353000													47	100					0	0	0.000781405	0	0
PDE1B	5153	broad.mit.edu	37	12	54966942	54966942	+	Missense_Mutation	SNP	C	C	T	rs137936270		TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:54966942C>T	ENST00000243052.3	+	8	1182	c.746C>T	c.(745-747)tCg>tTg	p.S249L	PDE1B_ENST00000550620.1_Missense_Mutation_p.S229L|PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000538346.1_Missense_Mutation_p.S208L	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	249	Catalytic (By similarity).				activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						CACTGCCTGTCGGAGATTGAG	0.542000													30	51					0	0	0.00058488	0	0
ZNF835	90485	broad.mit.edu	37	19	57175912	57175912	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:57175912C>T	ENST00000537055.2	-	2	886	c.655G>A	c.(655-657)Gag>Aag	p.E219K		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						TAGGGCCGCTCGCCCGTGTGC	0.711000													8	2					0	0	0.000274275	0	0
TCEB3B	51224	broad.mit.edu	37	18	44561311	44561311	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr18:44561311C>T	ENST00000332567.4	-	1	677	c.325G>A	c.(325-327)Gcc>Acc	p.A109T	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	109					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						AAGCCCCAGGCCTTTTCCTGG	0.662000													26	47					0	0	0.001512	0	0
CPA6	57094	broad.mit.edu	37	8	68419059	68419059	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr8:68419059C>T	ENST00000297770.4	-	6	814	c.599G>A	c.(598-600)tGg>tAg	p.W200*	CPA6_ENST00000297769.4_Nonsense_Mutation_p.W52*|CPA6_ENST00000518549.1_Nonsense_Mutation_p.W200*	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6	200					proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			AGGACCAATCCATTCTCTTGC	0.423000													27	40					0	0	0.000692331	0	0
TCEB3B	51224	broad.mit.edu	37	18	44560836	44560836	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr18:44560836G>A	ENST00000332567.4	-	1	1152	c.800C>T	c.(799-801)tCc>tTc	p.S267F	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	267					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						ACTTGCCCAGGAGGGCATCCT	0.607000													32	59					0	0	0.00058488	0	0
SLC24A4	123041	broad.mit.edu	37	14	92958550	92958550	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr14:92958550C>T	ENST00000532405.1	+	16	1908	c.1682C>T	c.(1681-1683)tCc>tTc	p.S561F	SLC24A4_ENST00000298877.1_Missense_Mutation_p.S544F|SLC24A4_ENST00000531433.1_Missense_Mutation_p.S542F|SLC24A4_ENST00000351924.5_Missense_Mutation_p.S525F|SLC24A4_ENST00000393265.2_Missense_Mutation_p.S497F			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	561						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		CTGGTCTATTCCGTGGTCCTG	0.512000													39	97					0	0	0.000509022	0	0
PTPRF	5792	broad.mit.edu	37	1	44083415	44083415	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:44083415G>A	ENST00000359947.4	+	25	4544	c.4204G>A	c.(4204-4206)Ggg>Agg	p.G1402R	PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000422171.2_Missense_Mutation_p.G761R|PTPRF_ENST00000438120.1_Missense_Mutation_p.G1393R|PTPRF_ENST00000372413.3_Missense_Mutation_p.G1393R|PTPRF_ENST00000372414.3_Missense_Mutation_p.G1402R	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1402	Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AGGCGTCCCCGGGAGTGACTA	0.592000													10	20					0	0	0.000442599	0	0
PLEKHA5	54477	broad.mit.edu	37	12	19418703	19418703	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:19418703C>T	ENST00000538714.1	+	8	634	c.630C>T	c.(628-630)atC>atT	p.I210I	PLEKHA5_ENST00000510738.2_3'UTR|PLEKHA5_ENST00000429027.2_Silent_p.I210I|PLEKHA5_ENST00000543806.1_Silent_p.I102I|PLEKHA5_ENST00000539256.1_5'UTR|PLEKHA5_ENST00000424268.1_Silent_p.I102I|PLEKHA5_ENST00000299275.6_Silent_p.I210I|PLEKHA5_ENST00000309364.4_Silent_p.I210I|PLEKHA5_ENST00000317589.4_Silent_p.I210I|PLEKHA5_ENST00000359180.3_Silent_p.I210I|PLEKHA5_ENST00000355397.3_Silent_p.I210I	NM_001143821.2	NP_001137293.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	210	PH.						1-phosphatidylinositol binding|protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					AAGAGGGTATCCTGGGAAGCA	0.318000													36	89					0	0	0.00148497	0	0
ASPG	374569	broad.mit.edu	37	14	104571006	104571006	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr14:104571006G>A	ENST00000551177.1	+	9	1076	c.984G>A	c.(982-984)gaG>gaA	p.E328E	ASPG_ENST00000546892.2_Silent_p.E328E|ASPG_ENST00000455920.2_Silent_p.E328E	NM_001080464.2	NP_001073933.2	Q86U10	LPP60_HUMAN	asparaginase homolog (S. cerevisiae)	328	Asparaginase.				lipid catabolic process		1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	11						TGACATCGGAGGCCGCCCTGG	0.692000													15	27					0	0	0.000219431	0	0
COL19A1	1310	broad.mit.edu	37	6	70672762	70672762	+	Splice_Site	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:70672762G>A	ENST00000322773.4	+	11	1128	c.1026_splice	c.e11+1	p.K342_splice		NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	342	Triple-helical region 1 (COL1).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						CTGGTGAAAAGGTAAATATCT	0.303000													18	28					0	0	0.00152264	0	0
KANSL3	55683	broad.mit.edu	37	2	97278298	97278298	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:97278298G>A	ENST00000599854.1	-	8	1121	c.654C>T	c.(652-654)gtC>gtT	p.V218V	KANSL3_ENST00000431828.1_Silent_p.V305V|KANSL3_ENST00000487070.1_5'UTR|KANSL3_ENST00000440133.1_Silent_p.V99V|KANSL3_ENST00000441706.2_Silent_p.V218V	NM_001115016.2	NP_001108488.1	Q9P2N6	K1310_HUMAN	KAT8 regulatory NSL complex subunit 3	305																	CTACAGGGATGACCTGAAGGA	0.473000													28	46					0	0	0.00127121	0	0
ZFHX3	463	broad.mit.edu	37	16	72827786	72827786	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr16:72827786C>T	ENST00000268489.5	-	9	9467	c.8795G>A	c.(8794-8796)gGa>gAa	p.G2932E	ZFHX3_ENST00000397992.5_Missense_Mutation_p.G2018E	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2932					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GCCTGCAGATCCACTCGCACC	0.512000													31	41					0	0	0.00111076	0	0
OR5B12	390191	broad.mit.edu	37	11	58207395	58207395	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr11:58207395G>A	ENST00000302572.2	-	1	251	c.230C>T	c.(229-231)cCc>cTc	p.P77L		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	77					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				CATCACCTTGGGAGTGACAGC	0.438000													13	5					0	0	0.000219431	0	0
SLC34A3	142680	broad.mit.edu	37	9	140126205	140126205	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr9:140126205G>A	ENST00000538474.1	+	2	275	c.51G>A	c.(49-51)gcG>gcA	p.A17A	SLC34A3_ENST00000361134.2_Silent_p.A17A	NM_001177316.1|NM_001177317.1	NP_001170787.1|NP_001170788.1	Q8N130	NPT2C_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 3	17					cellular phosphate ion homeostasis	apical plasma membrane|integral to membrane	sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		CTCTGGACGCGGTTGACCTAG	0.647000													31	20					0	0	0.00111076	0	0
CACHD1	57685	broad.mit.edu	37	1	65143967	65143967	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:65143967C>T	ENST00000371073.2	+	23	3218	c.3218C>T	c.(3217-3219)cCc>cTc	p.P1073L	CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000290039.5_Missense_Mutation_p.P1022L			Q5VU97	CAHD1_HUMAN	cache domain containing 1	1073					calcium ion transport	integral to membrane				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						GCCAAAAGTCCCTACGTTGAT	0.458000													19	14					0	0	0.00152264	0	0
AMHR2	269	broad.mit.edu	37	12	53819505	53819505	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:53819505G>A	ENST00000257863.4	+	6	734	c.654G>A	c.(652-654)tgG>tgA	p.W218*	AMHR2_ENST00000379791.3_Nonsense_Mutation_p.W218*|AMHR2_ENST00000550311.1_Nonsense_Mutation_p.W218*	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II	218	Protein kinase.				Mullerian duct regression		ATP binding|hormone binding|metal ion binding			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	CAGTGGTTTGGGCCGGGCAGC	0.582000													7	14					0	0	0.000274275	0	0
DCUN1D5	84259	broad.mit.edu	37	11	102937231	102937231	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr11:102937231G>A	ENST00000260247.5	-	5	749	c.407C>T	c.(406-408)tCg>tTg	p.S136L	DCUN1D5_ENST00000531543.1_Missense_Mutation_p.S51L	NM_032299.3	NP_115675.1	Q9BTE7	DCNL5_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 5	136	DCUN1.									NS(1)|central_nervous_system(1)|endometrium(2)	4		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.00032)|Epithelial(105;0.0689)|all cancers(92;0.186)		CTTAAATGACGAAATATCATT	0.303000													18	14					0	0	0.000229342	0	0
RYR3	6263	broad.mit.edu	37	15	33855110	33855110	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr15:33855110G>A	ENST00000389232.4	+	11	1115	c.1045G>A	c.(1045-1047)Gga>Aga	p.G349R	RYR3_ENST00000415757.3_Missense_Mutation_p.G349R	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	349	MIR 5.				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)		AATCAAGTATGGAGATTCTGT	0.438000													25	45					0	0	0.000720815	0	0
PCLO	27445	broad.mit.edu	37	7	82475907	82475907	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr7:82475907C>T	ENST00000423517.2	-	12	14144	c.13807G>A	c.(13807-13809)Gaa>Aaa	p.E4603K	PCLO_ENST00000333891.8_Missense_Mutation_p.E4603K|PCLO_ENST00000426442.2_5'UTR	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4491	C2 1.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.E4603K(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TCATGAAGTTCCAGATGCTGG	0.338000													19	48					0	0	0.000586117	0	0
ANKRD12	23253	broad.mit.edu	37	18	9255150	9255150	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr18:9255150C>T	ENST00000383440.2	+	8	2073	c.1816C>T	c.(1816-1818)Cat>Tat	p.H606Y	ANKRD12_ENST00000400020.3_Missense_Mutation_p.H606Y|ANKRD12_ENST00000262126.3_Missense_Mutation_p.H629Y	NM_001083625.2	NP_001077094.1	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	629						nucleus		p.H629Y(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						GGATGAAGATCATAGTCCAAC	0.284000													33	15					0	0	0.000409698	0	0
CNTNAP3	79937	broad.mit.edu	37	9	39171442	39171442	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr9:39171442G>A	ENST00000297668.6	-	8	1330	c.1257C>T	c.(1255-1257)ttC>ttT	p.F419F	CNTNAP3_ENST00000377656.2_Silent_p.F419F|CNTNAP3_ENST00000358144.2_Silent_p.F331F|CNTNAP3_ENST00000377659.1_Silent_p.F419F|CNTNAP3_ENST00000323947.7_Silent_p.F419F	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	419	Laminin G-like 2.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GAAAGAGGACGAAACTCCCTG	0.483000													35	17					0	0	0.000692331	0	0
SYNE3	161176	broad.mit.edu	37	14	95903214	95903214	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr14:95903214G>A	ENST00000334258.5	-	14	2495	c.2481C>T	c.(2479-2481)atC>atT	p.I827I	SYNE3_ENST00000554873.1_Silent_p.I584I|SYNE3_ENST00000557275.1_Silent_p.I822I	NM_152592.3	NP_689805.3			spectrin repeat containing, nuclear envelope family member 3											breast(1)|endometrium(2)|lung(25)	28						TCATTGCGATGATTCTAACCA	0.493000													37	73					0	0	0.00170553	0	0
SLC15A1	6564	broad.mit.edu	37	13	99356685	99356685	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr13:99356685T>A	ENST00000376503.5	-	17	1329	c.1274A>T	c.(1273-1275)aAt>aTt	p.N425I		NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1	425					digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)	CATAAATGCATTTGTCTATAG	0.418000													26	46					0	0	0.00106085	0	0
PAPD7	11044	broad.mit.edu	37	5	6751215	6751215	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:6751215C>T	ENST00000230859.6	+	11	1303	c.1174C>T	c.(1174-1176)Cct>Tct	p.P392S		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	392					cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						AGCGCCAGCTCCTCTCATGGC	0.537000													22	59					0	0	0.00047179	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146805346	146805346	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr7:146805346G>A	ENST00000361727.3	+	5	1174	c.658G>A	c.(658-660)Gaa>Aaa	p.E220K		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	220	Laminin G-like 1.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TAAGACGTCTGAAAGTGAAGG	0.388000										HNSCC(39;0.1)			21	64					0	0	0.000375601	0	0
TCEAL3	85012	broad.mit.edu	37	X	102864578	102864578	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:102864578G>A	ENST00000372628.1	+	3	944	c.586G>A	c.(586-588)Gat>Aat	p.D196N	TCEAL3_ENST00000477014.1_Intron|TCEAL3_ENST00000372627.5_Missense_Mutation_p.D196N|TCEAL3_ENST00000243286.3_Missense_Mutation_p.D196N			Q969E4	TCAL3_HUMAN	transcription elongation factor A (SII)-like 3	196					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	16						GGGCTTACACGATATCCCATA	0.527000													26	53					0	0	0.00127121	0	0
CLDN16	10686	broad.mit.edu	37	3	190106098	190106098	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:190106098C>T	ENST00000264734.2	+	1	438	c.190C>T	c.(190-192)Cct>Tct	p.P64S	CLDN16_ENST00000456423.1_Missense_Mutation_p.P64S|CLDN16_ENST00000468220.1_Intron	NM_006580.3	NP_006571.1	Q9Y5I7	CLD16_HUMAN	claudin 16	64					calcium-independent cell-cell adhesion|cellular metal ion homeostasis|excretion	integral to membrane|tight junction	identical protein binding|magnesium ion transmembrane transporter activity|structural molecule activity			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1)	19	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)		ATGTTGCCATCCTGATGGGCT	0.498000													13	36					0	0	0.00136819	0	0
SEPT1	1731	broad.mit.edu	37	16	30392719	30392719	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr16:30392719C>G	ENST00000321367.3	-	6	567	c.522G>C	c.(520-522)aaG>aaC	p.K174N	SEPT1_ENST00000605106.1_Missense_Mutation_p.K132N|SEPT1_ENST00000571393.1_Missense_Mutation_p.K127N	NM_052838.4	NP_443070.5	Q8WYJ6	SEPT1_HUMAN	septin 1	127					cell cycle|cell division	microtubule organizing center|septin complex	GTP binding|protein binding			breast(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)|urinary_tract(1)	24			Colorectal(24;0.193)			CCTGGATGTTCTTCCGGTTCA	0.597000													25	41					0	0	0.000878237	0	0
N4BP2L2	10443	broad.mit.edu	37	13	33016551	33016551	+	Missense_Mutation	SNP	A	A	C			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr13:33016551A>C	ENST00000357505.6	-	7	2182	c.2078T>G	c.(2077-2079)cTt>cGt	p.L693R	N4BP2L2_ENST00000399396.3_Missense_Mutation_p.L708R|N4BP2L2_ENST00000380121.3_5'UTR|N4BP2L2_ENST00000446957.2_Missense_Mutation_p.L611R|N4BP2L2_ENST00000504114.1_Missense_Mutation_p.L693R	NM_001278432.1	NP_001265361.1	Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	0										kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		AGATCCAAAAAGCTTTACTAA	0.398000													10	10					0	0	0.000673444	0	0
EPHX1	2052	broad.mit.edu	37	1	226019641	226019641	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:226019641C>T	ENST00000366837.4	+	3	541	c.345C>T	c.(343-345)caC>caT	p.H115H	EPHX1_ENST00000272167.5_Silent_p.H115H|EPHX1_ENST00000467015.1_3'UTR	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	115					aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					GATACCCTCACTTCAAGACTA	0.438000													17	49					0	0	0.00152264	0	0
ARAF	369	broad.mit.edu	37	X	47426163	47426163	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:47426163A>T	ENST00000377045.4	+	7	877	c.683A>T	c.(682-684)gAc>gTc	p.D228V	ARAF_ENST00000290277.6_Intron	NM_001256196.1|NM_001654.4	NP_001243125.1|NP_001645.1	P10398	ARAF_HUMAN	v-raf murine sarcoma 3611 viral oncogene homolog	228					intracellular signal transduction|negative regulation of apoptosis|positive regulation of peptidyl-serine phosphorylation		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity			biliary_tract(1)|endometrium(4)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	29					Adenosine triphosphate(DB00171)	GCCCCCATGGACTCCAACCTC	0.627000													19	28					0	0	0.000295444	0	0
GMIP	51291	broad.mit.edu	37	19	19744700	19744700	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:19744700G>A	ENST00000203556.4	-	19	2521	c.2384C>T	c.(2383-2385)tCc>tTc	p.S795F	GMIP_ENST00000587238.1_Missense_Mutation_p.S769F|GMIP_ENST00000445806.2_Missense_Mutation_p.S766F	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	795	Pro-rich.				negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						tgggggctgggagtctgggtc	0.697000													5	9					0	0	0.000602214	0	0
TDP2	51567	broad.mit.edu	37	6	24653351	24653351	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:24653351T>C	ENST00000341060.3	-	5	888	c.493A>G	c.(493-495)Atg>Gtg	p.M165V	TDP2_ENST00000378198.4_Missense_Mutation_p.M223V|TDP2_ENST00000545995.1_Missense_Mutation_p.M253V			O95551	TYDP2_HUMAN	tyrosyl-DNA phosphodiesterase 2	223					cell surface receptor linked signaling pathway|double-strand break repair	PML body	5'-tyrosyl-DNA phosphodiesterase activity|magnesium ion binding|nuclease activity|protein binding|transcription corepressor activity			kidney(2)|large_intestine(1)|lung(5)|ovary(1)	9						TGGGATGTCATAAGGCAAAGC	0.408000								Direct reversal of damage					108	164					0	0	0.000781405	0	0
GPR98	84059	broad.mit.edu	37	5	90020993	90020993	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:90020993G>A	ENST00000405460.2	+	47	10093	c.9997G>A	c.(9997-9999)Gaa>Aaa	p.E3333K		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3333					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AAGAAATGAAGAAAAGCCTTC	0.274000													8	30					0	0	0.000274275	0	0
TAS2R41	259287	broad.mit.edu	37	7	143175718	143175718	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr7:143175718C>T	ENST00000408916.1	+	1	753	c.753C>T	c.(751-753)atC>atT	p.I251I	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	251					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					TGTCCCTGATCATTGATGCCG	0.502000													54	75					0	0	0.000781405	0	0
ALAS1	211	broad.mit.edu	37	3	52248117	52248117	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:52248117C>T	ENST00000394965.2	+	12	2204	c.1844C>T	c.(1843-1845)cCa>cTa	p.P615L	ALAS1_ENST00000469224.1_Missense_Mutation_p.P615L|ALAS1_ENST00000310271.2_Missense_Mutation_p.P615L|ALAS1_ENST00000484952.1_Missense_Mutation_p.P615L	NM_000688.5	NP_000679.1	P13196	HEM1_HUMAN	aminolevulinate, delta-, synthase 1	615					heme biosynthetic process	mitochondrial matrix	5-aminolevulinate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	TGCAGGAGGCCACTGCATTTT	0.468000													29	52					0	0	0.001512	0	0
TNXB	7148	broad.mit.edu	37	6	32017250	32017250	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:32017250G>A	ENST00000375244.3	-	28	9755	c.9554C>T	c.(9553-9555)tCc>tTc	p.S3185F	TNXB_ENST00000375247.2_Missense_Mutation_p.S3183F			P22105	TENX_HUMAN	tenascin XB	3230	Fibronectin type-III 23.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GACGGTCCAGGAGAGGCTCAG	0.682000													125	194					0	0	0.000781405	0	0
TEC	7006	broad.mit.edu	37	4	48147256	48147256	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr4:48147256G>A	ENST00000381501.3	-	14	1467	c.1310C>T	c.(1309-1311)cCa>cTa	p.P437L	TEC_ENST00000511471.2_5'UTR	NM_003215.2	NP_003206.2	P42680	TEC_HUMAN	tec protein tyrosine kinase	437	Protein kinase.				intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						AATGTATATTGGTTTCTGCTG	0.433000													28	45					0	0	0.000339439	0	0
GABBR1	2550	broad.mit.edu	37	6	29581119	29581119	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:29581119G>A	ENST00000377034.4	-	12	1802	c.1467C>T	c.(1465-1467)ggC>ggT	p.G489G	GABBR1_ENST00000355973.3_Silent_p.G372G|GABBR1_ENST00000377016.4_Silent_p.G427G|GABBR1_ENST00000377012.4_Silent_p.G372G|GABBR1_ENST00000376977.3_Silent_p.G489G	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	489			G -> S (in dbSNP:rs1805057).		gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)	CACCAGAACGGCCGCCTCCTC	0.577000													37	60					0	0	0.000953801	0	0
SCN1A	6323	broad.mit.edu	37	2	166859089	166859089	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:166859089G>A	ENST00000423058.2	-	21	4194	c.4177C>T	c.(4177-4179)Cat>Tat	p.H1393Y	SCN1A_ENST00000409050.1_Missense_Mutation_p.H1365Y|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000303395.4_Missense_Mutation_p.H1393Y|SCN1A_ENST00000375405.3_Missense_Mutation_p.H1382Y	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1393						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	CAATCAGTATGATTATTCACG	0.363000													24	39					0	0	0.000586117	0	0
NAA25	80018	broad.mit.edu	37	12	112498129	112498129	+	Silent	SNP	A	A	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:112498129A>T	ENST00000261745.4	-	13	1640	c.1392T>A	c.(1390-1392)tcT>tcA	p.S464S		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	464						cytoplasm	protein binding			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						AGTAATAGTCAGAAAATTGCA	0.348000													19	48					0	0	0.000586117	0	0
NR2F6	2063	broad.mit.edu	37	19	17351572	17351572	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:17351572G>A	ENST00000291442.3	-	2	1000	c.281C>T	c.(280-282)tCc>tTc	p.S94F	AC010646.3_ENST00000594059.1_5'UTR	NM_005234.3	NP_005225.2	P10588	NR2F6_HUMAN	nuclear receptor subfamily 2, group F, member 6	94					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding	p.S94Y(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(1)	5						GTCACGGTTGGACCTGGGGGC	0.612000													15	46					0	0	0.00074312	0	0
PHF7	51533	broad.mit.edu	37	3	52457136	52457136	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:52457136C>T	ENST00000327906.3	+	11	1609	c.949C>T	c.(949-951)Cct>Tct	p.P317S	PHF7_ENST00000478707.1_Missense_Mutation_p.P317S|PHF7_ENST00000347025.2_Missense_Mutation_p.P278S	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN	PHD finger protein 7	317						nucleus	zinc ion binding			breast(2)|large_intestine(4)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		AGGGGACATCCCTTGCTGCAG	0.527000													26	60					0	0	0.00106085	0	0
FAM83H	286077	broad.mit.edu	37	8	144810890	144810890	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr8:144810890G>A	ENST00000388913.3	-	5	866	c.741C>T	c.(739-741)ttC>ttT	p.F247F		NM_198488.3	NP_940890.3	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	247					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			AGGACCACATGAAGCTGTGGG	0.652000													10	21					0	0	0.000978159	0	0
B3GALTL	145173	broad.mit.edu	37	13	31903644	31903644	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr13:31903644C>T	ENST00000343307.4	+	15	1485	c.1336C>T	c.(1336-1338)Ccg>Tcg	p.P446S		NM_194318.3	NP_919299.3	Q6Y288	B3GLT_HUMAN	beta 1,3-galactosyltransferase-like	446					fucose metabolic process	endoplasmic reticulum membrane|integral to membrane	transferase activity, transferring glycosyl groups			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Lung SC(185;0.0257)		all cancers(112;0.00436)|Epithelial(112;0.0285)|OV - Ovarian serous cystadenocarcinoma(117;0.0512)|GBM - Glioblastoma multiforme(144;0.184)		GCAGGCTCGGCCGGTGGATTA	0.418000													40	57					0	0	0.000589545	0	0
GPR153	387509	broad.mit.edu	37	1	6314056	6314056	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:6314056G>A	ENST00000377893.2	-	3	767	c.508C>T	c.(508-510)Ctg>Ttg	p.L170L		NM_207370.2	NP_997253.2	Q6NV75	GP153_HUMAN	G protein-coupled receptor 153	170						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|liver(1)|lung(7)|skin(1)	14	Ovarian(185;0.0634)	all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246)		CCAAAGCCCAGGCCGATCTCA	0.662000													5	13					0	0	0.000602214	0	0
PSG11	5680	broad.mit.edu	37	19	43522979	43522979	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:43522979C>T	ENST00000401740.1	-	3	755	c.652G>A	c.(652-654)Gaa>Aaa	p.E218K	PSG11_ENST00000306322.7_Missense_Mutation_p.E96K|PSG11_ENST00000403486.1_Missense_Mutation_p.E96K|PSG11_ENST00000320078.7_Missense_Mutation_p.E218K|PSG11_ENST00000595312.1_5'UTR			Q9UQ72	PSG11_HUMAN	pregnancy specific beta-1-glycoprotein 11	218	Ig-like C2-type 1.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				TTCCATATTTCACATTCATAG	0.507000													89	181					0	0	0.000781405	0	0
SALL1	6299	broad.mit.edu	37	16	51175771	51175771	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr16:51175771C>T	ENST00000440970.1	-	2	502	c.71G>A	c.(70-72)aGg>aAg	p.R24K	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.R121K	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	121					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)			GGACTCTTCCCTGTCAAGTCC	0.552000													23	68					0	0	0.000878237	0	0
SMG7	9887	broad.mit.edu	37	1	183515287	183515287	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:183515287C>T	ENST00000367537.3	+	18	2701	c.2506C>T	c.(2506-2508)Ccc>Tcc	p.P836S	SMG7_ENST00000347615.2_Missense_Mutation_p.P853S|SMG7_ENST00000508461.1_Missense_Mutation_p.P811S|SMG7_ENST00000515829.2_Missense_Mutation_p.P807S|SMG7_ENST00000507469.1_Missense_Mutation_p.P807S|SMG7_ENST00000456731.2_Missense_Mutation_p.P765S			Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	853	Gln/Pro-rich.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						GAAGCCTTTTCCCATGGAGCC	0.448000													29	38					0	0	0.00127121	0	0
MAN1A1	4121	broad.mit.edu	37	6	119569520	119569520	+	Splice_Site	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:119569520C>T	ENST00000368468.3	-	6	1339		c.e6-1		MAN1A1_ENST00000368466.2_Splice_Site	NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1						post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		TTCGAAAAATCTGAAAAGTCA	0.338000													15	18					0	0	0.000422831	0	0
NAA11	84779	broad.mit.edu	37	4	80246535	80246535	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr4:80246535T>C	ENST00000286794.4	-	1	669	c.497A>G	c.(496-498)aAg>aGg	p.K166R	NAA11_ENST00000513733.1_5'UTR	NM_032693.2	NP_116082.1	Q9BSU3	NAA11_HUMAN	N(alpha)-acetyltransferase 11, NatA catalytic subunit	166						cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|skin(2)	23						ATACCCGCCCTTCTTCAGGTC	0.537000													10	5					0	0	0.000442599	0	0
PFAS	5198	broad.mit.edu	37	17	8159960	8159960	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr17:8159960C>T	ENST00000314666.6	+	8	1073	c.940C>T	c.(940-942)Ccc>Tcc	p.P314S	PFAS_ENST00000545834.1_5'UTR	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	314					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TCACAACTTTCCCACAGGTGA	0.562000													22	23					0	0	0.000586117	0	0
MROH2B	133558	broad.mit.edu	37	5	41019062	41019062	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:41019062G>A	ENST00000399564.4	-	25	2950	c.2500C>T	c.(2500-2502)Cgg>Tgg	p.R834W	MROH2B_ENST00000506092.2_Missense_Mutation_p.R389W	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		AGCAGCCTCCGAATATTCTCC	0.463000													10	35					0	0	0.000673444	0	0
TMTC1	83857	broad.mit.edu	37	12	29786178	29786178	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:29786178G>A	ENST00000256062.5	-	6	1179	c.706C>T	c.(706-708)Cct>Tct	p.P236S	TMTC1_ENST00000381224.2_Missense_Mutation_p.P298S|TMTC1_ENST00000552618.1_Missense_Mutation_p.P406S|TMTC1_ENST00000539277.1_Missense_Mutation_p.P344S|TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000551659.1_Missense_Mutation_p.P406S	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	344						integral to membrane	binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					TCTACCAGAGGAATACTGCCG	0.507000													34	50					0	0	0.000491102	0	0
PAPPA2	60676	broad.mit.edu	37	1	176668404	176668404	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:176668404C>T	ENST00000367662.3	+	8	4079	c.2915C>T	c.(2914-2916)tCc>tTc	p.S972F		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	972					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TGGGTCACTTCCTTCTTCATG	0.557000													44	101					0	0	0.000509022	0	0
FER	2241	broad.mit.edu	37	5	108523217	108523217	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:108523217C>T	ENST00000281092.4	+	20	2794	c.2410C>T	c.(2410-2412)Cgc>Tgc	p.R804C	FER_ENST00000438717.2_Missense_Mutation_p.R629C	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	804	Protein kinase.				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		ACCTGAAAATCGCCCTAAGTT	0.453000													33	35					0	0	0.000409698	0	0
OR4F15	390649	broad.mit.edu	37	15	102358668	102358668	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr15:102358668C>T	ENST00000332238.4	+	1	303	c.279C>T	c.(277-279)tcC>tcT	p.S93S		NM_001001674.1	NP_001001674.1	Q8NGB8	O4F15_HUMAN	olfactory receptor, family 4, subfamily F, member 15	93					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)			AGGCCATCTCCTTTCGGGGAT	0.443000													38	64					0	0	0.000953801	0	0
PAPLN	89932	broad.mit.edu	37	14	73720524	73720524	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr14:73720524C>T	ENST00000427855.1	+	12	1259	c.1157C>T	c.(1156-1158)tCc>tTc	p.S386F	PAPLN_ENST00000340738.5_Missense_Mutation_p.S359F|PAPLN_ENST00000555445.1_Missense_Mutation_p.S386F|PAPLN_ENST00000554301.1_Missense_Mutation_p.S386F|PAPLN_ENST00000381166.3_Missense_Mutation_p.S386F			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	386	TSP type-1 3.					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		CAGTCCCGCTCCGTGTACTGC	0.682000													21	41					0	0	0.000375601	0	0
SMCO3	440087	broad.mit.edu	37	12	14958949	14958949	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:14958949G>A	ENST00000316048.2	-	2	738	c.666C>T	c.(664-666)caC>caT	p.H222H	C12orf60_ENST00000330828.2_Intron|C12orf60_ENST00000527783.1_Intron	NM_001013698.2	NP_001013720.2			single-pass membrane protein with coiled-coil domains 3																		ATTTCATTTGGTGTTTCACTG	0.368000													31	57					0	0	0.00178596	0	0
PLLP	51090	broad.mit.edu	37	16	57295862	57295862	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr16:57295862G>A	ENST00000219207.5	-	2	402	c.256C>T	c.(256-258)Ctc>Ttc	p.L86F	PLLP_ENST00000569059.1_Intron	NM_015993.2	NP_057077.1	Q9Y342	PLLP_HUMAN	plasmolipin	86	MARVEL.					integral to membrane	ion channel activity			endometrium(1)|prostate(1)	2						AACAGGTAGAGGTTGAAGAGG	0.567000													22	32					0	0	0.000375601	0	0
ITGAD	3681	broad.mit.edu	37	16	31424248	31424248	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr16:31424248G>A	ENST00000389202.2	+	15	1846	c.1797G>A	c.(1795-1797)atG>atA	p.M599I		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	599					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						ATGGACTGATGGACCTGGCCG	0.667000													26	29					0	0	0.00106085	0	0
S100A7L2	645922	broad.mit.edu	37	1	153409599	153409599	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:153409599C>T	ENST00000368725.2	-	3	273	c.274G>A	c.(274-276)Gat>Aat	p.D92N		NM_001045479.1	NP_001038944.2			S100 calcium binding protein A7-like 2											NS(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	8	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			ATGGTTATATCCCCCAGCAAG	0.473000													57	72					0	0	0.000781405	0	0
ATAD5	79915	broad.mit.edu	37	17	29220499	29220499	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr17:29220499G>A	ENST00000321990.4	+	21	5006	c.4628G>A	c.(4627-4629)aGt>aAt	p.S1543N		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1543					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				GCAACAAAAAGTATGAATTGT	0.353000													36	56					0	0	0.00058488	0	0
APOC4-APOC2	100533990	broad.mit.edu	37	19	45448482	45448482	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:45448482C>T	ENST00000419266.2	+	3	344	c.304C>T	c.(304-306)Ctc>Ttc	p.L102F	APOC4-APOC2_ENST00000589057.1_Intron|APOC4_ENST00000592954.1_Missense_Mutation_p.L102F|APOC4-APOC2_ENST00000436871.1_Missense_Mutation_p.L102F																							GGCCTGGTTCCTCGAATCCAA	0.567000													141	209					0	0	0.000781405	0	0
PTPRK	5796	broad.mit.edu	37	6	128400043	128400043	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:128400043C>T	ENST00000368227.3	-	11	2164	c.1798G>A	c.(1798-1800)Gaa>Aaa	p.E600K	PTPRK_ENST00000368213.5_Missense_Mutation_p.E600K|RP11-103C16.2_ENST00000417390.1_RNA|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368215.3_Missense_Mutation_p.E600K|PTPRK_ENST00000368210.3_Missense_Mutation_p.E600K|PTPRK_ENST00000368226.4_Missense_Mutation_p.E600K|PTPRK_ENST00000532331.1_Missense_Mutation_p.E600K|PTPRK_ENST00000368207.3_Missense_Mutation_p.E600K			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	600	Fibronectin type-III 4.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		TCAACTCCTTCATAGTCAGGT	0.383000													45	67					0	0	0.000781405	0	0
COL13A1	1305	broad.mit.edu	37	10	71689802	71689802	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr10:71689802G>A	ENST00000356340.3	+	27	1992	c.1456G>A	c.(1456-1458)Gag>Aag	p.E486K	COL13A1_ENST00000520267.1_Missense_Mutation_p.E429K|COL13A1_ENST00000398969.3_Missense_Mutation_p.E429K|COL13A1_ENST00000398966.3_Missense_Mutation_p.E464K|COL13A1_ENST00000398971.3_Missense_Mutation_p.E486K|COL13A1_ENST00000517713.1_Missense_Mutation_p.E464K|COL13A1_ENST00000520133.1_Missense_Mutation_p.E435K|COL13A1_ENST00000357811.3_Missense_Mutation_p.E464K|COL13A1_ENST00000354547.3_Missense_Mutation_p.E464K|COL13A1_ENST00000398972.3_Missense_Mutation_p.E486K|COL13A1_ENST00000398964.3_Missense_Mutation_p.E457K|COL13A1_ENST00000522165.1_Missense_Mutation_p.E467K|COL13A1_ENST00000398978.3_Missense_Mutation_p.E486K|COL13A1_ENST00000398973.3_Missense_Mutation_p.E486K|COL13A1_ENST00000398974.3_Missense_Mutation_p.E474K|COL13A1_ENST00000398968.3_Missense_Mutation_p.E467K			Q5TAT6	CODA1_HUMAN	collagen, type XIII, alpha 1	486	Triple-helical region 3 (COL3).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding			endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28					Atorvastatin(DB01076)|Simvastatin(DB00641)	GTTACAGGGGGAGATTGGACT	0.552000													10	7					0	0	0.00136819	0	0
HSD11B1L	374875	broad.mit.edu	37	19	5687897	5687897	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:5687897C>T	ENST00000581521.1	+	10	1277	c.802C>T	c.(802-804)Ccg>Tcg	p.P268S	HSD11B1L_ENST00000339423.2_Missense_Mutation_p.P268S|HSD11B1L_ENST00000423665.2_Intron|HSD11B1L_ENST00000577917.1_Intron|HSD11B1L_ENST00000411793.2_Intron|HSD11B1L_ENST00000583928.1_Missense_Mutation_p.P134S|HSD11B1L_ENST00000581893.1_Missense_Mutation_p.P134S|RPL36_ENST00000582380.2_Intron|RPL36_ENST00000579649.1_Intron|HSD11B1L_ENST00000581773.1_Missense_Mutation_p.P268S|HSD11B1L_ENST00000301382.4_Missense_Mutation_p.P187S|HSD11B1L_ENST00000342970.2_Missense_Mutation_p.P181S|RPL36_ENST00000577222.1_Intron			Q7Z5J1	DHI1L_HUMAN	hydroxysteroid (11-beta) dehydrogenase 1-like	0						extracellular region	binding|oxidoreductase activity										GCGCTGGCTACCGCGCCCGCG	0.731000													3	3					0	0	0.00024832	0	0
PNLDC1	154197	broad.mit.edu	37	6	160239996	160239996	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:160239996T>A	ENST00000275275.5	+	17	1414	c.1243T>A	c.(1243-1245)Tat>Aat	p.Y415N	PNLDC1_ENST00000392167.3_Missense_Mutation_p.Y426N	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain containing 1	415						integral to membrane|nucleus	nucleic acid binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		TGGTCCAGATTATCCCAGTAT	0.443000													30	54					0	0	0.000692331	0	0
FTHL17	53940	broad.mit.edu	37	X	31089734	31089734	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:31089734G>A	ENST00000359202.3	-	1	436	c.337C>T	c.(337-339)Cag>Tag	p.Q113*		NM_031894.2	NP_114100.1	Q9BXU8	FHL17_HUMAN	ferritin, heavy polypeptide-like 17	113	Ferritin-like diiron.				cellular iron ion homeostasis|iron ion transport		ferric iron binding|oxidoreductase activity			endometrium(2)|large_intestine(2)|liver(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	23						AGCAGGCTCTGGTTGACGTTC	0.607000													24	36					0	0	0.000878237	0	0
BAI3	577	broad.mit.edu	37	6	70070771	70070771	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:70070771G>A	ENST00000370598.1	+	29	4427	c.3606G>A	c.(3604-3606)aaG>aaA	p.K1202K	BAI3_ENST00000238918.8_Silent_p.K408K|BAI3_ENST00000546190.1_Silent_p.K166K	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1202					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TTCTTCATAAGGATATTGGTC	0.353000													17	42					0	0	0.000958276	0	0
ZNF614	80110	broad.mit.edu	37	19	52519474	52519474	+	Silent	SNP	T	T	C	rs73934727		TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:52519474T>C	ENST00000270649.6	-	5	1921	c.1377A>G	c.(1375-1377)gaA>gaG	p.E459E	ZNF614_ENST00000356322.6_Intron	NM_025040.3	NP_079316.2	Q8N883	ZN614_HUMAN	zinc finger protein 614	459					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		CTTTACCACATTCATTGCATT	0.403000													34	62					0	0	0.00058488	0	0
WDR74	54663	broad.mit.edu	37	11	62603256	62603256	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr11:62603256G>A	ENST00000525239.1	-	6	964	c.427C>T	c.(427-429)Ccc>Tcc	p.P143S	WDR74_ENST00000278856.4_Missense_Mutation_p.P143S|WDR74_ENST00000525752.1_Missense_Mutation_p.P86S|WDR74_ENST00000311713.7_Missense_Mutation_p.P143S|WDR74_ENST00000540620.1_5'UTR|WDR74_ENST00000529106.1_Missense_Mutation_p.P143S			Q6RFH5	WDR74_HUMAN	WD repeat domain 74	143						nucleolus				kidney(2)|large_intestine(1)|liver(1)|lung(3)|ovary(1)	8						ACCACATGGGGGTGTGCTGGG	0.532000													12	3					0	0	0.000151284	0	0
POPDC2	64091	broad.mit.edu	37	3	119367478	119367478	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:119367478G>A	ENST00000493094.1	-	3	1097	c.638C>T	c.(637-639)tCc>tTc	p.S213F	POPDC2_ENST00000264231.3_Missense_Mutation_p.S213F|POPDC2_ENST00000538678.1_Missense_Mutation_p.S213F|POPDC2_ENST00000474523.1_5'UTR|POPDC2_ENST00000468801.1_Missense_Mutation_p.S213F			Q9HBU9	POPD2_HUMAN	popeye domain containing 2	213						integral to membrane				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.242)		CCGGGGCCAGGAAATGTAGCT	0.473000													29	44					0	0	0.00111076	0	0
KIAA1462	57608	broad.mit.edu	37	10	30336727	30336727	+	Missense_Mutation	SNP	T	T	A	rs112079947	by1000genomes	TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr10:30336727T>A	ENST00000375377.1	-	2	116	c.15A>T	c.(13-15)gaA>gaT	p.E5D		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	5										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TCAGGAGGTCTTCTACACTGT	0.567000													28	16					0	0	0.001512	0	0
MUC16	94025	broad.mit.edu	37	19	9063850	9063850	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:9063850C>T	ENST00000397910.4	-	3	23799	c.23596G>A	c.(23596-23598)Gaa>Aaa	p.E7866K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7868	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						GTGACGTCTTCCTTGGAGATC	0.537000													17	36					0	0	0.000422831	0	0
XPO6	23214	broad.mit.edu	37	16	28146632	28146632	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr16:28146632G>A	ENST00000304658.5	-	10	1848	c.1348C>T	c.(1348-1350)Ctg>Ttg	p.L450L	XPO6_ENST00000565698.1_Silent_p.L436L	NM_015171.2	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	450					protein export from nucleus		protein binding|protein transporter activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						AGGAGCACCAGGGCATCTTCG	0.463000													35	70					0	0	0.00111076	0	0
CPS1	1373	broad.mit.edu	37	2	211455619	211455619	+	Silent	SNP	C	C	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:211455619C>A	ENST00000233072.5	+	9	1132	c.936C>A	c.(934-936)tcC>tcA	p.S312S	CPS1_ENST00000430249.2_Silent_p.S318S	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	312	Glutamine amidotransferase type-1.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		ACAAGATGTCCATGGCCAACA	0.408000													33	69					1.62565e-12	9.20993e-12	0.000409698	1	0
SLMAP	7871	broad.mit.edu	37	3	57843838	57843838	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:57843838C>T	ENST00000383718.3	+	7	737	c.639C>T	c.(637-639)ctC>ctT	p.L213L	SLMAP_ENST00000449503.2_Silent_p.L213L|SLMAP_ENST00000428312.1_Silent_p.L213L|SLMAP_ENST00000416870.1_5'UTR|SLMAP_ENST00000295951.3_Silent_p.L213L|SLMAP_ENST00000295952.3_Silent_p.L213L			Q14BN4	SLMAP_HUMAN	sarcolemma associated protein	213					muscle contraction|protein folding	integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum	unfolded protein binding			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2)	18				BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)		AAGATAGACTCTTATCACGGT	0.303000													64	36					0	0	0.000781405	0	0
DSPP	1834	broad.mit.edu	37	4	88534101	88534101	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr4:88534101G>A	ENST00000399271.1	+	4	883	c.763G>A	c.(763-765)Gaa>Aaa	p.E255K	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000282478.7_Missense_Mutation_p.E255K	NM_014208.3	NP_055023.2	Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	255					biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		AGATGAGGATGAAGACGAGGG	0.502000													21	13					0	0	0.000586117	0	0
ZNF479	90827	broad.mit.edu	37	7	57188644	57188644	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr7:57188644G>A	ENST00000331162.4	-	5	748	c.478C>T	c.(478-480)Cat>Tat	p.H160Y		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	160					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			ACATATTTATGAGTCTGAAAT	0.303000													36	43					0	0	0.00111076	0	0
CDH24	64403	broad.mit.edu	37	14	23518846	23518846	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr14:23518846C>T	ENST00000397359.3	-	11	1960	c.1701G>A	c.(1699-1701)caG>caA	p.Q567Q	CDH24_ENST00000554034.1_Silent_p.Q529Q|CDH24_ENST00000267383.5_Silent_p.Q567Q|CDH24_ENST00000487137.2_Silent_p.Q529Q|CDH24_ENST00000485922.1_5'UTR	NM_022478.3	NP_071923.2	Q86UP0	CAD24_HUMAN	cadherin 24, type 2	567	Cadherin 5.				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		CTCGGTTGTCCTGGACAGTAA	0.592000													14	19					0	0	0.00121646	0	0
WNT7B	7477	broad.mit.edu	37	22	46327142	46327142	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr22:46327142C>T	ENST00000339464.4	-	3	780	c.406G>A	c.(406-408)Gag>Aag	p.E136K	WNT7B_ENST00000410089.1_Missense_Mutation_p.E120K|WNT7B_ENST00000409496.3_Missense_Mutation_p.E140K|WNT7B_ENST00000410058.1_Missense_Mutation_p.E136K	NM_058238.2	NP_478679.1	P56706	WNT7B_HUMAN	wingless-type MMTV integration site family, member 7B	136					activation of JUN kinase activity|anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|central nervous system vasculogenesis|chorio-allantoic fusion|developmental growth involved in morphogenesis|embryonic placenta morphogenesis|establishment or maintenance of polarity of embryonic epithelium|fibroblast proliferation|forebrain regionalization|inner medullary collecting duct development|lens fiber cell development|lobar bronchus development|lung epithelium development|lung morphogenesis|lung-associated mesenchyme development|mammary gland epithelium development|metanephric collecting duct development|metanephric loop of Henle development|metanephros morphogenesis|negative regulation of smoothened signaling pathway|outer medullary collecting duct development|oxygen homeostasis|positive regulation of JNK cascade|positive regulation of osteoblast differentiation|renal inner medulla development|renal outer medulla development|stem cell proliferation|synapse organization|trachea cartilage morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled binding|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	19		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|LUAD - Lung adenocarcinoma(64;0.247)		CCCTGCTTCTCGCGGTCGCAG	0.682000													38	12					0	0	0.000374591	0	0
CPED1	79974	broad.mit.edu	37	7	120911459	120911459	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr7:120911459G>A	ENST00000310396.5	+	22	3310	c.2843G>A	c.(2842-2844)gGg>gAg	p.G948E		NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1																		TTTCTACAGGGGAAGTGTGGA	0.323000													89	72					0	0	0.000781405	0	0
AK8	158067	broad.mit.edu	37	9	135750555	135750555	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr9:135750555G>A	ENST00000298545.3	-	2	637	c.116C>T	c.(115-117)cCc>cTc	p.P39L	AK8_ENST00000477396.1_5'UTR	NM_152572.2	NP_689785.1	Q96MA6	KAD8_HUMAN	adenylate kinase 8	39						cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity			NS(1)|kidney(2)|large_intestine(4)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(2)	23						GGGATCTTCGGGCTGGTGGAT	0.577000													10	17					0	0	0.000978159	0	0
ABI3BP	25890	broad.mit.edu	37	3	100645200	100645200	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:100645200G>A	ENST00000471714.1	-	2	335	c.226C>T	c.(226-228)Cca>Tca	p.P76S	ABI3BP_ENST00000495063.1_Missense_Mutation_p.P76S|ABI3BP_ENST00000532144.1_5'UTR|ABI3BP_ENST00000284322.5_Missense_Mutation_p.P76S			Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	76						extracellular space				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						TACTGGTTTGGTGATACATTG	0.468000													18	45					0	0	0.000958276	0	0
SPEG	10290	broad.mit.edu	37	2	220348848	220348848	+	Missense_Mutation	SNP	A	A	C			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:220348848A>C	ENST00000312358.7	+	30	6795	c.6663A>C	c.(6661-6663)gaA>gaC	p.E2221D	AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2221	Pro-rich.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CCAGGCCAGAACCAGTCCGAG	0.642000													12	19					0	0	0.000151284	0	0
CMKLR1	1240	broad.mit.edu	37	12	108685854	108685854	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:108685854G>A	ENST00000397688.2	-	3	1249	c.880C>T	c.(880-882)Ctg>Ttg	p.L294L	CMKLR1_ENST00000550402.1_Silent_p.L296L|CMKLR1_ENST00000412676.1_Silent_p.L296L|CMKLR1_ENST00000312143.7_Silent_p.L296L|CMKLR1_ENST00000552995.1_Silent_p.L294L	NM_004072.2	NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	296					chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity			endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						GGCAAACCCAGGCTGAAGACA	0.542000													16	28					0	0	0.000422831	0	0
MROH2B	133558	broad.mit.edu	37	5	41065470	41065470	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:41065470G>A	ENST00000399564.4	-	4	774	c.324C>T	c.(322-324)ttC>ttT	p.F108F		NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B									p.F108F(1)									CAAGCACAACGAATTCATCTG	0.418000													11	24					0	0	0.000673444	0	0
LAMTOR5	10542	broad.mit.edu	37	1	110950356	110950356	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:110950356G>A	ENST00000256644.4	-	1	208	c.133C>T	c.(133-135)Cct>Tct	p.P45S	LAMTOR5-AS1_ENST00000590413.1_RNA|LAMTOR5-AS1_ENST00000457535.1_RNA	NM_006402.2	NP_006393.2			late endosomal/lysosomal adaptor, MAPK and MTOR activator 5																		GCCTCCAAAGGGACAAAATTG	0.627000													8	27					0	0	0.000673444	0	0
BICD1	636	broad.mit.edu	37	12	32481244	32481244	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:32481244C>T	ENST00000548411.1	+	5	2036	c.1855C>T	c.(1855-1857)Cgc>Tgc	p.R619C	BICD1_ENST00000281474.5_Missense_Mutation_p.R619C	NM_001003398.1	NP_001003398.1	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	619					anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			AAGTGACATCCGCAAAGAGCC	0.483000													54	77					0	0	0.000781405	0	0
DNAH3	55567	broad.mit.edu	37	16	20952789	20952789	+	Nonsense_Mutation	SNP	A	A	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr16:20952789A>T	ENST00000261383.3	-	59	11587	c.11588T>A	c.(11587-11589)tTg>tAg	p.L3863*	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3863					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CACGGGGTACAACTTCATGAC	0.488000													71	95					0	0	0.000781405	0	0
TRPS1	7227	broad.mit.edu	37	8	116616459	116616459	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr8:116616459G>A	ENST00000395715.3	-	4	2314	c.1737C>T	c.(1735-1737)ttC>ttT	p.F579F	TRPS1_ENST00000519076.1_Intron|TRPS1_ENST00000520276.1_Silent_p.F570F|TRPS1_ENST00000519674.1_Silent_p.F566F|TRPS1_ENST00000220888.5_Silent_p.F566F	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	566					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			CTCTGGGACAGAATGGACAGT	0.443000									Langer-Giedion syndrome				19	25					0	0	0.000958276	0	0
PRLR	5618	broad.mit.edu	37	5	35065712	35065712	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:35065712G>A	ENST00000382002.5	-	10	1774	c.1348C>T	c.(1348-1350)Ctg>Ttg	p.L450L	PRLR_ENST00000511486.1_Silent_p.L349L|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000231423.3_Intron|PRLR_ENST00000542609.1_Intron|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000310101.5_Intron|PRLR_ENST00000342362.5_Silent_p.L349L	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	450					activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TCATTCAACAGAGTGGCCGGT	0.512000													39	89					0	0	0.000781405	0	0
CENPI	2491	broad.mit.edu	37	X	100387404	100387404	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:100387404C>T	ENST00000372927.1	+	14	1706	c.1429C>T	c.(1429-1431)Cat>Tat	p.H477Y	CENPI_ENST00000372926.1_Missense_Mutation_p.H477Y|CENPI_ENST00000218507.5_Missense_Mutation_p.H477Y|CENPI_ENST00000423383.1_Missense_Mutation_p.H477Y	NM_006733.2	NP_006724.2	Q92674	CENPI_HUMAN	centromere protein I	477					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	cytosol|kinetochore|nucleoplasm	protein binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						TCTTTTTGACCATCTAGCGCA	0.318000													27	90					0	0	0.00127121	0	0
TACC2	10579	broad.mit.edu	37	10	123844662	123844662	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr10:123844662G>A	ENST00000369005.1	+	4	2987	c.2647G>A	c.(2647-2649)Gaa>Aaa	p.E883K	TACC2_ENST00000515273.1_Missense_Mutation_p.E883K|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.E883K|TACC2_ENST00000453444.2_Missense_Mutation_p.E883K|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000334433.3_Missense_Mutation_p.E883K	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	883						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GGAACCTCAGGAAGATAACAA	0.502000													15	14					0	0	0.000308642	0	0
GCSAML	148823	broad.mit.edu	37	1	247737496	247737496	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:247737496C>T	ENST00000366491.2	+	7	657	c.160C>T	c.(160-162)Cac>Tac	p.H54Y	GCSAML_ENST00000527084.1_Missense_Mutation_p.H42Y|GCSAML_ENST00000527541.1_Missense_Mutation_p.H42Y|GCSAML_ENST00000366488.4_Missense_Mutation_p.H74Y|RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA|GCSAML_ENST00000366489.1_Missense_Mutation_p.H54Y|GCSAML_ENST00000536561.1_Missense_Mutation_p.H54Y|GCSAML_ENST00000463359.1_Missense_Mutation_p.H42Y					germinal center-associated, signaling and motility-like																		TGTCATTAATCACATCCCCCA	0.443000													32	96					0	0	0.00178596	0	0
ESPNL	339768	broad.mit.edu	37	2	239010659	239010659	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:239010659C>T	ENST00000343063.3	+	2	635	c.372C>T	c.(370-372)ctC>ctT	p.L124L	ESPNL_ENST00000409169.1_Silent_p.L124L	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	124										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		AGTGGCTGCTCCACGAGGGCC	0.692000													4	10					0	0	0.00024832	0	0
TNXB	7148	broad.mit.edu	37	6	32038104	32038104	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:32038104G>A	ENST00000375244.3	-	14	5279	c.5078C>T	c.(5077-5079)tCc>tTc	p.S1693F	TNXB_ENST00000375247.2_Missense_Mutation_p.S1693F			P22105	TENX_HUMAN	tenascin XB	1775	Fibronectin type-III 9.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						AACCGTCCAGGAGAGGCGCAG	0.657000													58	113					0	0	0.000781405	0	0
CPEB2	132864	broad.mit.edu	37	4	15005680	15005680	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr4:15005680C>T	ENST00000538197.1	+	1	1383	c.1383C>T	c.(1381-1383)ttC>ttT	p.F461F	CPEB2_ENST00000345451.3_Silent_p.F24F|CPEB2_ENST00000382395.3_Silent_p.F24F|CPEB2_ENST00000259997.5_Silent_p.F24F|CPEB2_ENST00000541112.1_Silent_p.F461F|CPEB2_ENST00000507071.1_Silent_p.F24F|CPEB2_ENST00000442003.2_Silent_p.F461F|CPEB2_ENST00000382401.3_Silent_p.F24F	NM_001177382.1	NP_001170853.1	Q7Z5Q1	CPEB2_HUMAN	cytoplasmic polyadenylation element binding protein 2	24	RRM 2.				regulation of translation	cytoplasm	nucleotide binding|RNA binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(3)	14						ACCCGGCCTTCTTCCCTAGCT	0.741000													11	22					0	0	0.00136819	0	0
NT5E	4907	broad.mit.edu	37	6	86197192	86197192	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:86197192G>A	ENST00000257770.3	+	5	1138	c.1089G>A	c.(1087-1089)ctG>ctA	p.L363L	NT5E_ENST00000369651.3_Silent_p.L363L	NM_002526.3	NP_002517.1	P21589	5NTD_HUMAN	5'-nucleotidase, ecto (CD73)	363					DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	5'-nucleotidase activity|nucleotide binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)		BRCA - Breast invasive adenocarcinoma(108;0.0417)	Pentoxifylline(DB00806)	TGGGCAACCTGATTTGTGATG	0.443000													57	88					0	0	0.000781405	0	0
GABRA5	2558	broad.mit.edu	37	15	27159995	27159995	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr15:27159995G>A	ENST00000335625.5	+	7	1431	c.543G>A	c.(541-543)ccG>ccA	p.P181P	GABRA5_ENST00000557449.1_3'UTR|GABRA5_ENST00000355395.5_Silent_p.P181P|GABRB3_ENST00000541819.2_Intron|GABRA5_ENST00000400081.3_Silent_p.P181P	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	181					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	AGGACTTCCCGATGGATGCGC	0.443000													13	31					0	0	0.000422831	0	0
TRMT13	54482	broad.mit.edu	37	1	100613780	100613780	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:100613780C>T	ENST00000370141.2	+	10	1154	c.1148C>T	c.(1147-1149)tCa>tTa	p.S383L		NM_019083.2	NP_061956.2			tRNA methyltransferase 13 homolog (S. cerevisiae)																		TTGGAAACCTCAAATAGTACC	0.433000													33	43					0	0	0.000491102	0	0
EYA4	2070	broad.mit.edu	37	6	133834096	133834096	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:133834096G>A	ENST00000367895.5	+	16	1885	c.1421G>A	c.(1420-1422)gGg>gAg	p.G474E	EYA4_ENST00000525849.1_Missense_Mutation_p.G451E|EYA4_ENST00000430974.2_Missense_Mutation_p.G426E|EYA4_ENST00000452339.2_Missense_Mutation_p.G420E|EYA4_ENST00000431403.2_Missense_Mutation_p.G474E|EYA4_ENST00000531901.1_Missense_Mutation_p.G480E|RP3-323P13.2_ENST00000607033.1_RNA|EYA4_ENST00000355167.3_Missense_Mutation_p.G474E|EYA4_ENST00000355286.6_Missense_Mutation_p.G451E	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	eyes absent homolog 4 (Drosophila)	474					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		GTAAGAGGAGGGGTTGACTGG	0.413000													20	31					0	0	0.00152264	0	0
CACNA1F	778	broad.mit.edu	37	X	49081431	49081431	+	Silent	SNP	A	A	G			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:49081431A>G	ENST00000376265.2	-	14	1763	c.1702T>C	c.(1702-1704)Ttg>Ctg	p.L568L	CACNA1F_ENST00000323022.5_Silent_p.L557L|CACNA1F_ENST00000376251.1_Silent_p.L503L	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	568					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	AGACAGAGCAACACTTTGTTG	0.537000													4	6					0	0	0.000602214	0	0
HIVEP1	3096	broad.mit.edu	37	6	12123591	12123591	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:12123591G>A	ENST00000379388.2	+	4	3895	c.3563G>A	c.(3562-3564)cGg>cAg	p.R1188Q		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1188					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CACCCTTCTCGGGACGGGTCT	0.507000													18	27					0	0	0.00152264	0	0
RBAK	57786	broad.mit.edu	37	7	5103441	5103441	+	Silent	SNP	T	T	C			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr7:5103441T>C	ENST00000396912.1	+	5	873	c.354T>C	c.(352-354)ttT>ttC	p.F118F	RBAK_ENST00000396904.2_Intron|RBAK_ENST00000353796.3_Silent_p.F118F|RBAK_ENST00000407184.1_Intron	NM_021163.3	NP_066986.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	118					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		AGAATACATTTAGTCAAATTT	0.343000													35	40					0	0	0.000953801	0	0
COL4A3	1285	broad.mit.edu	37	2	228104886	228104886	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:228104886G>A	ENST00000396578.3	+	3	334	c.172G>A	c.(172-174)Ggt>Agt	p.G58S	AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000606119.1_RNA|AC097662.2_ENST00000437673.1_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	58	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		TGGACCCCCCGGTTCTCCTGG	0.522000													6	13					0	0	0.000274275	0	0
AVEN	57099	broad.mit.edu	37	15	34295320	34295320	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr15:34295320G>A	ENST00000306730.3	-	2	487	c.358C>T	c.(358-360)Cga>Tga	p.R120*	CHRM5_ENST00000383263.5_Intron	NM_020371.2	NP_065104.1	Q9NQS1	AVEN_HUMAN	apoptosis, caspase activation inhibitor	120					anti-apoptosis|apoptosis	endomembrane system|intracellular|membrane|membrane fraction	protein binding			cervix(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	7		all_lung(180;1.78e-08)		all cancers(64;1.66e-15)|GBM - Glioblastoma multiforme(113;1.42e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0359)		TCTTGATATCGATCCCAGTTA	0.403000													27	46					0	0	0.000720815	0	0
TMC3	342125	broad.mit.edu	37	15	81650587	81650587	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr15:81650587C>T	ENST00000558726.1	-	7	781	c.646G>A	c.(646-648)Gag>Aag	p.E216K	RP11-761I4.3_ENST00000560851.1_RNA|TMC3_ENST00000359440.5_Missense_Mutation_p.E216K|RP11-761I4.3_ENST00000559781.1_RNA			Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	216						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						ATCTTCCTCTCCCTGCCGTAA	0.493000													31	47					0	0	0.000953801	0	0
PCDHA6	56142	broad.mit.edu	37	5	140209499	140209499	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:140209499C>T	ENST00000529310.1	+	1	1937	c.1823C>T	c.(1822-1824)tCg>tTg	p.S608L	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1												p.S608L(2)		NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGTGGCTTTCGTATGAGCTG	0.662000													10	30					0	0	0.000442599	0	0
IRAK1	3654	broad.mit.edu	37	X	153278809	153278809	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:153278809G>A	ENST00000369980.3	-	12	1782	c.1615C>T	c.(1615-1617)Ccc>Tcc	p.P539S	IRAK1_ENST00000393682.1_Intron|IRAK1_ENST00000369974.2_Missense_Mutation_p.P460S|IRAK1_ENST00000393687.2_Intron|IRAK1_ENST00000429936.2_Intron|IRAK1_ENST00000477274.1_Intron	NM_001025242.1|NM_001569.3	NP_001020413.1|NP_001560.2	P51617	IRAK1_HUMAN	interleukin-1 receptor-associated kinase 1	539					activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|lipopolysaccharide-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|protein autophosphorylation|protein oligomerization|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transmembrane receptor protein serine/threonine kinase signaling pathway	cytosol|endosome membrane|interleukin-1 receptor complex	ATP binding|NF-kappaB-inducing kinase activity|protein binding|protein heterodimerization activity|protein homodimerization activity|ubiquitin-protein ligase activity			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2)	25	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGGGAAGGGGGGATGCAGCTG	0.662000													22	21					0	0	0.000295444	0	0
ANKFN1	162282	broad.mit.edu	37	17	54428267	54428267	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr17:54428267C>T	ENST00000566473.2	+	4	338	c.338C>T	c.(337-339)tCc>tTc	p.S113F	ANKFN1_ENST00000318698.2_Missense_Mutation_p.S113F			Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	113										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						AGCCACTCTTCCTTCGATGAG	0.453000													30	42					0	0	0.001512	0	0
SEMA4C	54910	broad.mit.edu	37	2	97530946	97530946	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:97530946A>G	ENST00000305476.5	-	7	761	c.629T>C	c.(628-630)cTc>cCc	p.L210P		NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C	210	Dominant negative effect on myogenic differentiation (By similarity).|Sema.				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						CTCACCGTTGAGCCAAAAGGC	0.637000													8	13					0	0	0.000157383	0	0
MIR381HG	378881	broad.mit.edu	37	14	101512287	101512287	+	RNA	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr14:101512287C>T	ENST00000553692.1	+	0	28				MIR381_ENST00000362150.1_RNA																							TTTGTATATTCGGTTTATTGA	0.507000													4	12					0	0	0.000602214	0	0
HIST1H1T	3010	broad.mit.edu	37	6	26108317	26108317	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:26108317G>A	ENST00000338379.4	-	1	47	c.5C>T	c.(4-6)tCt>tTt	p.S2F		NM_005323.3	NP_005314.2	P22492	H1T_HUMAN	histone cluster 1, H1t	2					cell differentiation|multicellular organismal development|nucleosome assembly|spermatogenesis	nucleosome	DNA binding			breast(2)|endometrium(1)|lung(3)|ovary(2)|prostate(1)	9						CACGGTTTCAGACATAACAAC	0.542000													11	26					0	0	0.00136819	0	0
NOTCH2	4853	broad.mit.edu	37	1	120469126	120469126	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:120469126G>A	ENST00000256646.2	-	24	4220	c.4001C>T	c.(4000-4002)cCc>cTc	p.P1334L		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1334	EGF-like 34.				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACTTACCGGGGGACAACGGCA	0.488000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				55	118					0	0	0.000781405	0	0
OR2B3	442184	broad.mit.edu	37	6	29054546	29054546	+	Silent	SNP	A	A	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:29054546A>T	ENST00000377173.2	-	1	544	c.480T>A	c.(478-480)tcT>tcA	p.S160S		NM_001005226.2	NP_001005226.1			olfactory receptor, family 2, subfamily B, member 3											breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						GAGTCAAGGAAGACTGCAGCA	0.498000													14	30					0	0	0.000151284	0	0
LGR5	8549	broad.mit.edu	37	12	71978211	71978211	+	Silent	SNP	G	G	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:71978211G>T	ENST00000266674.5	+	18	2732	c.2421G>T	c.(2419-2421)gtG>gtT	p.V807V	LGR5_ENST00000540815.2_Silent_p.V783V|LGR5_ENST00000536515.1_Silent_p.V735V			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	807						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						TCCTTCTGGTGGTAGTCCCAC	0.433000													11	513					0.00136819	0.00762324	0.00136819	1	0
CLEC4E	26253	broad.mit.edu	37	12	8687260	8687260	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:8687260G>A	ENST00000299663.3	-	6	799	c.634C>T	c.(634-636)Cct>Tct	p.P212S	CLEC4E_ENST00000446457.2_3'UTR|CLEC4E_ENST00000545274.1_Missense_Mutation_p.P167S	NM_014358.2	NP_055173.1	Q9ULY5	CLC4E_HUMAN	C-type lectin domain family 4, member E	212						integral to membrane	sugar binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Lung SC(5;0.184)					TTGTTCAAAGGATTTATTCCT	0.418000													17	29					0	0	0.000958276	0	0
DDX4	54514	broad.mit.edu	37	5	55110939	55110939	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:55110939C>T	ENST00000505374.1	+	20	2018	c.1926C>T	c.(1924-1926)tcC>tcT	p.S642S	DDX4_ENST00000354991.5_Silent_p.S608S|DDX4_ENST00000353507.5_Silent_p.S608S|DDX4_ENST00000514278.2_Silent_p.S622S|DDX4_ENST00000511853.1_Silent_p.S493S	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	642	Helicase C-terminal.				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				GAGCAATTTCCTTTTTTGATC	0.358000													52	88					0	0	0.000781405	0	0
EPB41L2	2037	broad.mit.edu	37	6	131277475	131277475	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:131277475G>A	ENST00000337057.3	-	2	332	c.151C>T	c.(151-153)Cct>Tct	p.P51S	EPB41L2_ENST00000525271.1_Missense_Mutation_p.P51S|EPB41L2_ENST00000530148.1_Intron|EPB41L2_ENST00000527411.1_Missense_Mutation_p.P51S|EPB41L2_ENST00000530481.1_Missense_Mutation_p.P51S|EPB41L2_ENST00000528282.1_Missense_Mutation_p.P51S|EPB41L2_ENST00000368128.2_Missense_Mutation_p.P51S|EPB41L2_ENST00000445890.2_Missense_Mutation_p.P51S|EPB41L2_ENST00000527659.1_Missense_Mutation_p.P51S|EPB41L2_ENST00000392427.3_Missense_Mutation_p.P51S|EPB41L2_ENST00000529208.1_Missense_Mutation_p.P51S|EPB41L2_ENST00000525193.1_Missense_Mutation_p.P51S	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	51					cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		TCAGCTGCAGGAGGTGGCTGG	0.483000													39	59					0	0	0.00128727	0	0
ATP9A	10079	broad.mit.edu	37	20	50230311	50230311	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr20:50230311G>A	ENST00000338821.5	-	23	2740	c.2476C>T	c.(2476-2478)Cgg>Tgg	p.R826W	ATP9A_ENST00000311637.5_Missense_Mutation_p.R690W|ATP9A_ENST00000402822.1_Missense_Mutation_p.R705W	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	826					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						ATAAGCAACCGGCCAAGATGC	0.502000													75	113					0	0	0.000781405	0	0
BCS1L	617	broad.mit.edu	37	2	219525811	219525811	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:219525811A>G	ENST00000431802.1	+	2	800	c.101A>G	c.(100-102)aAg>aGg	p.K34R	BCS1L_ENST00000392110.2_Missense_Mutation_p.K34R|BCS1L_ENST00000412366.1_Missense_Mutation_p.K34R|BCS1L_ENST00000439945.1_Missense_Mutation_p.K34R|BCS1L_ENST00000392109.1_Missense_Mutation_p.K34R|BCS1L_ENST00000392111.2_Missense_Mutation_p.K34R|BCS1L_ENST00000359273.3_Missense_Mutation_p.K34R			Q9Y276	BCS1_HUMAN	BC1 (ubiquinol-cytochrome c reductase) synthesis-like	34					mitochondrial respiratory chain complex I assembly|mitochondrial respiratory chain complex III assembly|mitochondrial respiratory chain complex IV assembly	integral to membrane|mitochondrial respiratory chain complex III	ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	8		Renal(207;0.0474)		Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTGGCCCGGAAGGGTGTCCAA	0.582000													26	59					0	0	0.00106085	0	0
RPTN	126638	broad.mit.edu	37	1	152129412	152129412	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:152129412C>T	ENST00000316073.3	-	3	227	c.163G>A	c.(163-165)Gaa>Aaa	p.E55K		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	55	EF-hand 2.|S-100-like (By similarity).					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						AAGATGGTTTCCACAGTCTCT	0.418000													16	57					0	0	0.000958276	0	0
NLGN1	22871	broad.mit.edu	37	3	173998905	173998905	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:173998905T>A	ENST00000457714.1	+	7	2713	c.2284T>A	c.(2284-2286)Tac>Aac	p.Y762N	NLGN1_ENST00000545397.1_Missense_Mutation_p.Y762N|NLGN1_ENST00000401917.3_Missense_Mutation_p.Y802N|NLGN1_ENST00000361589.4_Missense_Mutation_p.Y762N	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	779					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			TCCCCCAGATTACACACTAGC	0.468000													17	37					0	0	0.000958276	0	0
PTPRF	5792	broad.mit.edu	37	1	44083416	44083416	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:44083416G>A	ENST00000359947.4	+	25	4545	c.4205G>A	c.(4204-4206)gGg>gAg	p.G1402E	PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000422171.2_Missense_Mutation_p.G761E|PTPRF_ENST00000438120.1_Missense_Mutation_p.G1393E|PTPRF_ENST00000372413.3_Missense_Mutation_p.G1393E|PTPRF_ENST00000372414.3_Missense_Mutation_p.G1402E	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1402	Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GGCGTCCCCGGGAGTGACTAC	0.592000													10	20					0	0	0.000673444	0	0
CACNA1A	773	broad.mit.edu	37	19	13423587	13423587	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:13423587C>T	ENST00000360228.5	-	12	1563	c.1564G>A	c.(1564-1566)Gaa>Aaa	p.E522K	CACNA1A_ENST00000573710.2_Missense_Mutation_p.E523K	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	523					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	AAAATGAATTCTGCATAGTCT	0.438000													9	37					0	0	0.000274275	0	0
STAG2	10735	broad.mit.edu	37	X	123195717	123195717	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:123195717G>A	ENST00000371160.1	+	17	1921	c.1631G>A	c.(1630-1632)gGa>gAa	p.G544E	STAG2_ENST00000371145.3_Missense_Mutation_p.G544E|STAG2_ENST00000371144.3_Missense_Mutation_p.G544E|STAG2_ENST00000218089.9_Missense_Mutation_p.G544E|STAG2_ENST00000354548.5_Missense_Mutation_p.G475E|STAG2_ENST00000371157.3_Missense_Mutation_p.G544E|STAG2_ENST00000469481.1_Intron			Q8N3U4	STAG2_HUMAN	stromal antigen 2	544					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						AGAGGGACAGGAAAAAGGGTA	0.368000													32	60					0	0	0.000409698	0	0
TSC22D3	1831	broad.mit.edu	37	X	106957890	106957890	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:106957890G>A	ENST00000372383.4	-	3	829	c.462C>T	c.(460-462)tcC>tcT	p.S154S	TSC22D3_ENST00000372397.2_Silent_p.S88S|TSC22D3_ENST00000506081.1_Silent_p.S154S|TSC22D3_ENST00000514426.1_Silent_p.S86S|TSC22D3_ENST00000372382.4_Silent_p.S64S|TSC22D3_ENST00000372390.4_Silent_p.S31S|TSC22D3_ENST00000372384.2_Silent_p.S154S|TSC22D3_ENST00000315660.4_Silent_p.S154S	NM_198057.2	NP_932174.1	Q99576	T22D3_HUMAN	TSC22 domain family, member 3	88							sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)|lung(3)	6						GCTCTAGCTGGGAGTTCTTCT	0.547000													58	113					0	0	0.000781405	0	0
PRSS1	5644	broad.mit.edu	37	7	142459672	142459672	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr7:142459672G>A	ENST00000486171.1	+	4	307	c.290G>A	c.(289-291)gGg>gAg	p.G97E	PRSS1_ENST00000311737.7_Missense_Mutation_p.G83E			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	83	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)			GTCCTGGAGGGGAATGAGCAG	0.542000													50	166					0	0	0.000781405	0	0
BCLAF1	9774	broad.mit.edu	37	6	136597503	136597503	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:136597503T>C	ENST00000531224.1	-	5	1412	c.1160A>G	c.(1159-1161)aAa>aGa	p.K387R	BCLAF1_ENST00000530767.1_Intron|BCLAF1_ENST00000527759.1_Missense_Mutation_p.K385R|BCLAF1_ENST00000392348.2_Missense_Mutation_p.K385R|BCLAF1_ENST00000527536.1_Missense_Mutation_p.K387R|BCLAF1_ENST00000353331.4_Missense_Mutation_p.K385R	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	387					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TCCAGACTCTTTATCACTGAA	0.438000													49	237					0	0	0.000781405	0	0
GAB3	139716	broad.mit.edu	37	X	153908454	153908454	+	Nonsense_Mutation	SNP	A	A	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:153908454A>T	ENST00000369575.3	-	9	1630	c.1599T>A	c.(1597-1599)taT>taA	p.Y533*	GAB3_ENST00000496390.1_5'UTR|GAB3_ENST00000424127.2_Nonsense_Mutation_p.Y534*	NM_001081573.1|NM_080612.2	NP_001075042.1|NP_542179.1	Q8WWW8	GAB3_HUMAN	GRB2-associated binding protein 3	533										NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CCAGGGCCAAATAATCTAGGC	0.512000													72	139					0	0	0.000781405	0	0
CFHR2	3080	broad.mit.edu	37	1	196928157	196928157	+	Nonsense_Mutation	SNP	C	C	T	rs41313888		TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:196928157C>T	ENST00000367415.4	+	5	874	c.760C>T	c.(760-762)Cga>Tga	p.R254*	CFHR2_ENST00000476712.1_3'UTR|CFHR2_ENST00000367421.3_Nonsense_Mutation_p.R254*	NM_005666.2	NP_005657.1	P36980	FHR2_HUMAN	complement factor H-related 2	254	Sushi 4.					extracellular region				large_intestine(2)|ovary(1)|skin(3)	6						TCATTCATTTCGAGCAATGTG	0.323000													26	56					0	0	0.000878237	0	0
PRICKLE3	4007	broad.mit.edu	37	X	49034474	49034474	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:49034474G>A	ENST00000376317.3	-	7	917	c.823C>T	c.(823-825)Cac>Tac	p.H275Y	PRICKLE3_ENST00000540849.1_Missense_Mutation_p.H207Y|PRICKLE3_ENST00000536904.1_Missense_Mutation_p.H194Y|PRICKLE3_ENST00000538114.1_Intron	NM_006150.3	NP_006141.2	O43900	PRIC3_HUMAN	prickle homolog 3 (Drosophila)	275	LIM zinc-binding 2.						protein binding|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|skin(2)	22						CAGCAGAAGTGATCCATGTGC	0.632000													6	14					0	0	0.00116845	0	0
SMYD1	150572	broad.mit.edu	37	2	88393054	88393054	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:88393054C>T	ENST00000419482.2	+	5	763	c.678C>T	c.(676-678)tcC>tcT	p.S226S	SMYD1_ENST00000444564.2_Intron|SMYD1_ENST00000438570.1_Intron	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	226	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						CAGTGAAATCCATGTTTCATA	0.493000													20	60					0	0	0.000229342	0	0
TPSAB1	7177	broad.mit.edu	37	16	1291284	1291284	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr16:1291284C>T	ENST00000461509.2	+	2	407	c.213C>T	c.(211-213)atC>atT	p.I71I	TPSAB1_ENST00000338844.3_Silent_p.I64I			P20231	TRYB2_HUMAN	tryptase alpha/beta 1	64	Peptidase S1.				proteolysis	extracellular region	protein binding|serine-type endopeptidase activity			NS(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|skin(1)	10		Hepatocellular(780;0.00369)				GCTCCCTCATCCACCCCCAGT	0.701000													12	31					0	0	0.000219431	0	0
CD209	30835	broad.mit.edu	37	19	7810954	7810954	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:7810954G>A	ENST00000315599.7	-	4	220	c.198C>T	c.(196-198)tcC>tcT	p.S66S	CD209_ENST00000315591.8_Silent_p.S42S|CD209_ENST00000601951.1_Silent_p.S42S|CD209_ENST00000394173.4_Silent_p.S66S|CD209_ENST00000301357.8_Silent_p.S22S|CD209_ENST00000593821.1_Silent_p.S22S|CD209_ENST00000204801.8_Silent_p.S22S|CD209_ENST00000593660.1_Silent_p.S42S|CD209_ENST00000394161.5_Silent_p.S66S|CD209_ENST00000601256.1_Silent_p.S42S|CD209_ENST00000354397.6_Silent_p.S66S|CD209_ENST00000602261.1_Silent_p.S66S	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	66					cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CCTGACTTATGGAGCTGGGGA	0.502000													39	92					0	0	0.000509022	0	0
CEP128	145508	broad.mit.edu	37	14	81371267	81371267	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr14:81371267G>A	ENST00000555265.1	-	6	745	c.370C>T	c.(370-372)Cat>Tat	p.H124Y	CEP128_ENST00000327841.2_Missense_Mutation_p.H64Y|CEP128_ENST00000216517.6_Missense_Mutation_p.H124Y|CEP128_ENST00000281129.3_Missense_Mutation_p.H124Y			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	124						centriole|spindle pole				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						GGTGGAAAATGATGGAGCTCT	0.408000													33	49					0	0	0.000692331	0	0
TP63	8626	broad.mit.edu	37	3	189612028	189612028	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:189612028C>T	ENST00000264731.3	+	14	1869	c.1780C>T	c.(1780-1782)Cga>Tga	p.R594*	TP63_ENST00000440651.2_Nonsense_Mutation_p.R590*|TP63_ENST00000449992.1_Nonsense_Mutation_p.R415*|TP63_ENST00000382063.4_Nonsense_Mutation_p.R509*|TP63_ENST00000456148.1_Nonsense_Mutation_p.R496*|TP63_ENST00000354600.5_Nonsense_Mutation_p.R500*|TP63_ENST00000320472.5_3'UTR	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	594	SAM.				anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R594*(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		TGAGCAATTTCGACATGCGAT	0.532000										HNSCC(45;0.13)			26	37					0	0	0.00127121	0	0
DBX2	440097	broad.mit.edu	37	12	45429804	45429804	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:45429804G>A	ENST00000332700.6	-	2	668	c.497C>T	c.(496-498)cCa>cTa	p.P166L		NM_001004329.2	NP_001004329.2	Q6ZNG2	DBX2_HUMAN	developing brain homeobox 2	166						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	22	Lung SC(27;0.192)	Lung NSC(34;0.142)		GBM - Glioblastoma multiforme(48;0.0515)		aaacttacttggaaaagcagt	0.493000													9	18					0	0	0.000978159	0	0
SNORD114-1	767577	broad.mit.edu	37	14	101416231	101416231	+	RNA	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr14:101416231C>T	ENST00000362705.1	+	0	62					NR_003193.1																						GTCTGGAAGTCTGAGGTCCAA	0.388000													10	18					0	0	0.000673444	0	0
ARGFX	503582	broad.mit.edu	37	3	121304901	121304901	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:121304901G>A	ENST00000334384.3	+	4	412	c.402G>A	c.(400-402)aaG>aaA	p.K134K		NM_001012659.1	NP_001012677.1	A6NJG6	ARGFX_HUMAN	arginine-fifty homeobox	134						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.K134N(1)		kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(114;0.152)		TCAAATTGAAGAAGCAGCAGC	0.517000													14	31					0	0	0.000566183	0	0
OR10H2	26538	broad.mit.edu	37	19	15839424	15839424	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:15839424A>T	ENST00000305899.3	+	1	591	c.571A>T	c.(571-573)Aat>Tat	p.N191Y		NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H, member 2	191					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					GGCCTGTGGAAATAATGTACC	0.517000													31	52					0	0	0.000491102	0	0
SUMO1	7341	broad.mit.edu	37	2	203075522	203075522	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:203075522G>A	ENST00000392246.2	-	4	329	c.173C>T	c.(172-174)cCa>cTa	p.P58L	SUMO1_ENST00000409205.1_Missense_Mutation_p.P19L|SUMO1_ENST00000409181.1_Intron|SUMO1_ENST00000392244.3_Missense_Mutation_p.P33L|SUMO1_ENST00000409712.1_Intron|SUMO1_ENST00000409368.1_Missense_Mutation_p.P58L|SUMO1_ENST00000392245.1_Missense_Mutation_p.P58L|SUMO1_ENST00000469034.1_5'UTR|SUMO1_ENST00000409498.2_Missense_Mutation_p.P19L	NM_003352.4	NP_003343.1	P63165	SUMO1_HUMAN	small ubiquitin-like modifier 1	58	Ubiquitin-like.				DNA repair|interferon-gamma-mediated signaling pathway|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|palate development|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein complex assembly|protein sumoylation|regulation of interferon-gamma-mediated signaling pathway|regulation of protein localization	cytoplasm|nuclear membrane|nuclear pore|nuclear speck	ubiquitin protein ligase binding										TGAATTCATTGGAACACCCTA	0.318000													20	42					0	0	0.00152264	0	0
GFRAL	389400	broad.mit.edu	37	6	55223744	55223744	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:55223744G>A	ENST00000340465.2	+	6	846	c.760G>A	c.(760-762)Gaa>Aaa	p.E254K		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	254						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			AAAGTGCCATGAAGATGAGAA	0.408000													25	70					0	0	0.00106085	0	0
ALPP	250	broad.mit.edu	37	2	233244608	233244608	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:233244608G>A	ENST00000392027.2	+	5	888	c.619G>A	c.(619-621)Gac>Aac	p.D207N	AC068134.8_ENST00000441266.1_RNA|AC068134.8_ENST00000439072.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	207						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		GGGGTGCCAGGACATCGCTAC	0.682000													13	39					0	0	0.000151284	0	0
P2RY14	9934	broad.mit.edu	37	3	150931715	150931715	+	Silent	SNP	A	A	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:150931715A>T	ENST00000309170.3	-	3	702	c.390T>A	c.(388-390)tcT>tcA	p.S130S	MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron|P2RY14_ENST00000424796.2_Silent_p.S130S	NM_001081455.1|NM_014879.3	NP_001074924.1|NP_055694.3	Q15391	P2Y14_HUMAN	purinergic receptor P2Y, G-protein coupled, 14	130						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled|UDP-activated nucleotide receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)	20			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ACTGGATGAAAGAAGTCCAAA	0.423000													7	41					0	0	0.000157383	0	0
LYPD1	116372	broad.mit.edu	37	2	133403686	133403686	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:133403686C>T	ENST00000397463.2	-	3	630	c.358G>A	c.(358-360)Gcc>Acc	p.A120T	LYPD1_ENST00000345008.6_Missense_Mutation_p.A68T|GPR39_ENST00000470071.1_3'UTR|GPR39_ENST00000329321.3_3'UTR	NM_144586.5	NP_653187.3	Q8N2G4	LYPD1_HUMAN	LY6/PLAUR domain containing 1	120						anchored to membrane|plasma membrane				lung(2)	2						GGCCTGAGGGCCGAGGCAGAA	0.577000													12	37					0	0	0.000219431	0	0
MAST3	23031	broad.mit.edu	37	19	18233516	18233516	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:18233516C>T	ENST00000262811.5	+	5	267	c.267C>T	c.(265-267)ctC>ctT	p.L89L		NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	89							ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						TCGCGTCTCTCCCATCTTCCG	0.607000													4	7					0	0	0.000602214	0	0
CDK5RAP2	55755	broad.mit.edu	37	9	123215998	123215998	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr9:123215998G>A	ENST00000349780.4	-	21	2708	c.2529C>T	c.(2527-2529)tcC>tcT	p.S843S	CDK5RAP2_ENST00000359309.3_Silent_p.S843S|CDK5RAP2_ENST00000360190.4_Silent_p.S843S|CDK5RAP2_ENST00000360822.3_Silent_p.S811S	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	843					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						CATGTGGCTTGGAAAATGAGT	0.463000													39	29					0	0	0.000437636	0	0
GABRG2	2566	broad.mit.edu	37	5	161569269	161569269	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:161569269C>T	ENST00000356592.3	+	7	1329	c.869C>T	c.(868-870)tCc>tTc	p.S290F	GABRG2_ENST00000393933.4_Missense_Mutation_p.S195F|GABRG2_ENST00000361925.4_Missense_Mutation_p.S290F|GABRG2_ENST00000414552.2_Missense_Mutation_p.S330F	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	290					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		GTCGTCCTATCCTGGGTGTCT	0.428000													31	38					0	0	0.001512	0	0
MYOT	9499	broad.mit.edu	37	5	137223019	137223019	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:137223019G>A	ENST00000239926.4	+	10	1816	c.1442G>A	c.(1441-1443)gGa>gAa	p.G481E	RP11-381K20.2_ENST00000508281.2_RNA|RP11-381K20.2_ENST00000514616.1_RNA|MYOT_ENST00000421631.2_Missense_Mutation_p.G297E|MYOT_ENST00000515645.1_Missense_Mutation_p.G366E	NM_006790.2	NP_006781.1	Q9UBF9	MYOTI_HUMAN	myotilin	481	Necessary for interaction with ACTA1.|Necessary for interaction with FLNC.				muscle contraction	actin cytoskeleton|sarcolemma|sarcomere	actin binding|structural constituent of muscle			cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			AACCCAGAAGGAGAATTTCAG	0.383000													27	36					0	0	0.000720815	0	0
CYP2E1	1571	broad.mit.edu	37	10	135350654	135350654	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr10:135350654C>T	ENST00000463117.2	+	9	1327	c.1055C>T	c.(1054-1056)gCt>gTt	p.A352V	SPRN_ENST00000541506.1_Intron|CYP2E1_ENST00000252945.3_Missense_Mutation_p.A352V			P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E, polypeptide 1	352					drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding			NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)	TACATGGATGCTGTGGTGCAT	0.527000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				19	24					0	0	0.000958276	0	0
SLC25A31	83447	broad.mit.edu	37	4	128685492	128685492	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr4:128685492G>A	ENST00000281154.4	+	3	623	c.455G>A	c.(454-456)cGa>cAa	p.R152Q		NM_031291.2	NP_112581.1	Q9H0C2	ADT4_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31	152					transmembrane transport	cilium|flagellum|integral to membrane|mitochondrial inner membrane	binding|transporter activity			NS(1)|breast(1)|large_intestine(10)|lung(8)|skin(2)	22						GCCCGAACCCGATTAGGTGTC	0.398000													34	24					0	0	0.000491102	0	0
RAB3GAP2	25782	broad.mit.edu	37	1	220340852	220340852	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:220340852G>A	ENST00000358951.2	-	25	3088	c.2972C>T	c.(2971-2973)gCc>gTc	p.A991V		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	991					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		ACCTGGTATGGCTCCTAAGTC	0.383000													47	113					0	0	0.000781405	0	0
FMNL2	114793	broad.mit.edu	37	2	153475610	153475610	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:153475610C>T	ENST00000288670.9	+	14	1932	c.1565C>T	c.(1564-1566)tCc>tTc	p.S522F		NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN	formin-like 2	522					actin cytoskeleton organization	cytoplasm	actin binding|Rho GTPase binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						GGGGCCGCTTCCTCAGGACCC	0.572000													10	19					0	0	0.000673444	0	0
POM121	9883	broad.mit.edu	37	7	72413513	72413513	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr7:72413513C>T	ENST00000395270.1	+	14	3227	c.2186C>T	c.(2185-2187)tCt>tTt	p.S729F	POM121_ENST00000358357.3_Missense_Mutation_p.S729F|POM121_ENST00000257622.4_Missense_Mutation_p.S729F|POM121_ENST00000446813.1_Missense_Mutation_p.S729F|POM121_ENST00000434423.2_Missense_Mutation_p.S994F	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	994	Pore side (Potential).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				TTTGGCAGCTCTTTCACTTTT	0.657000													25	99					0	0	0.00106085	0	0
PLG	5340	broad.mit.edu	37	6	161139332	161139332	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:161139332C>T	ENST00000308192.9	+	8	857	c.794C>T	c.(793-795)cCt>cTt	p.P265L		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	265					extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	CAAGCAACACCTCCACCATCT	0.502000													29	52					0	0	0.00178596	0	0
APPBP2	10513	broad.mit.edu	37	17	58524995	58524995	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr17:58524995C>A	ENST00000083182.3	-	13	1992	c.1705G>T	c.(1705-1707)Gaa>Taa	p.E569*		NM_006380.2	NP_006371.2	Q92624	APBP2_HUMAN	amyloid beta precursor protein (cytoplasmic tail) binding protein 2	569					intracellular protein transport	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus	microtubule motor activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1)	25	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)			TGCACCACTTCTTCAGTGGAC	0.498000													58	94					1.31726e-23	7.49142e-23	0.000781405	1	0
PCLO	27445	broad.mit.edu	37	7	82585451	82585451	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr7:82585451C>T	ENST00000423517.2	-	5	5155	c.4818G>A	c.(4816-4818)ggG>ggA	p.G1606G	PCLO_ENST00000333891.8_Silent_p.G1606G	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1537					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GTCTGTGTTTCCCTGCTGTTA	0.418000													87	259					0	0	0.000781405	0	0
KMT2A	4297	broad.mit.edu	37	11	118373178	118373178	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr11:118373178C>T	ENST00000534358.1	+	27	6594	c.6571C>T	c.(6571-6573)Cga>Tga	p.R2191*	KMT2A_ENST00000354520.4_Nonsense_Mutation_p.R2150*|KMT2A_ENST00000389506.5_Nonsense_Mutation_p.R2188*	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		CTCTGGACTTCGAAGCATTGG	0.448000													18	15					0	0	0.00121646	0	0
TLR9	54106	broad.mit.edu	37	3	52255454	52255454	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:52255454C>T	ENST00000597542.1	-	9	3907	c.2950G>A	c.(2950-2952)Gag>Aag	p.E984K	TLR9_ENST00000360658.2_Missense_Mutation_p.E960K|TLR9_ENST00000494383.1_Missense_Mutation_p.G1113E			Q9NR96	TLR9_HUMAN	toll-like receptor 9	960	TIR.				defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	TTGCGGTCCTCCAGCAGGCGC	0.692000													13	20					0	0	0.00136819	0	0
NLRP12	91662	broad.mit.edu	37	19	54313043	54313043	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:54313043C>T	ENST00000324134.6	-	3	2038	c.1870G>A	c.(1870-1872)Gag>Aag	p.E624K	NLRP12_ENST00000345770.5_Missense_Mutation_p.E624K|NLRP12_ENST00000535162.1_Missense_Mutation_p.E624K|NLRP12_ENST00000391772.1_Missense_Mutation_p.E624K|NLRP12_ENST00000391773.1_Missense_Mutation_p.E624K|NLRP12_ENST00000351894.4_Missense_Mutation_p.E624K|NLRP12_ENST00000391775.3_Missense_Mutation_p.E624K|NLRP12_ENST00000354278.3_Missense_Mutation_p.E624K	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	624					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TGGATAAACTCCTCCTCCTGG	0.567000													22	42					0	0	0.000295444	0	0
GRIP2	80852	broad.mit.edu	37	3	14547163	14547163	+	RNA	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:14547163G>A	ENST00000273083.3	-	0	2597							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						TCCTCCTCTGGAAAGCTCTCG	0.677000													3	0					0	0	0.00024832	0	0
TMEM63B	55362	broad.mit.edu	37	6	44120422	44120422	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:44120422C>T	ENST00000259746.9	+	20	2112	c.1929C>T	c.(1927-1929)atC>atT	p.I643I	TMEM63B_ENST00000323267.6_Silent_p.I643I			Q5T3F8	TM63B_HUMAN	transmembrane protein 63B	643						integral to membrane	nucleotide binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			CCTGCCCCATCATCGTGCCCT	0.647000											OREG0017465	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	21					0	0	0.00121646	0	0
WDFY3	23001	broad.mit.edu	37	4	85731479	85731479	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr4:85731479G>A	ENST00000322366.6	-	14	2313	c.1906C>T	c.(1906-1908)Cga>Tga	p.R636*	WDFY3-AS1_ENST00000510449.1_RNA|WDFY3_ENST00000295888.4_Nonsense_Mutation_p.R636*			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	636						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TGGCTTTCTCGAAGGACCGAC	0.383000													13	9					0	0	0.000151284	0	0
FBXO43	286151	broad.mit.edu	37	8	101146071	101146071	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr8:101146071G>A	ENST00000428847.2	-	5	2402	c.2086C>T	c.(2086-2088)Cca>Tca	p.P696S		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	696					meiosis		zinc ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			GCACTTCCTGGGAGAGCATCT	0.403000													41	43					0	0	0.00148497	0	0
CATSPER2	117155	broad.mit.edu	37	15	43940225	43940225	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr15:43940225A>G	ENST00000396879.1	-	3	147	c.35T>C	c.(34-36)cTt>cCt	p.L12P	STRC_ENST00000541030.1_Intron|CATSPER2_ENST00000464721.1_Intron|CATSPER2_ENST00000355438.2_Missense_Mutation_p.L12P|CATSPER2_ENST00000354127.4_Missense_Mutation_p.L12P|CATSPER2_ENST00000321596.5_Missense_Mutation_p.L12P|CATSPER2_ENST00000381761.1_Missense_Mutation_p.L18P			Q96P56	CTSR2_HUMAN	cation channel, sperm associated 2	12					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|protein binding|voltage-gated ion channel activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		AGCTCGGGGAAGCTGCATCTG	0.488000													109	217					0	0	0.000781405	0	0
ANO2	57101	broad.mit.edu	37	12	5915239	5915239	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:5915239C>T	ENST00000327087.8	-	9	1028	c.957G>A	c.(955-957)gaG>gaA	p.E319E	ANO2_ENST00000546188.1_Silent_p.E320E|ANO2_ENST00000356134.5_Silent_p.E320E			Q9NQ90	ANO2_HUMAN	anoctamin 2	324						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						TCATATCGTCCTCTGGACTAT	0.473000													18	31					0	0	0.000229342	0	0
OR5P2	120065	broad.mit.edu	37	11	7818388	7818388	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr11:7818388G>A	ENST00000329434.2	-	1	132	c.102C>T	c.(100-102)atC>atT	p.I34I	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P, member 2	34					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TACCAGATAGGATGATCATGA	0.433000													22	7					0	0	0.000229342	0	0
CDH6	1004	broad.mit.edu	37	5	31305377	31305377	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:31305377G>A	ENST00000265071.2	+	7	1361	c.1096G>A	c.(1096-1098)Gat>Aat	p.D366N	CDH6_ENST00000514738.1_Missense_Mutation_p.D311N	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	366	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GCCTTTCAAAGATTCAGCCAC	0.428000													26	36					0	0	0.000720815	0	0
HAO1	54363	broad.mit.edu	37	20	7866479	7866479	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr20:7866479C>T	ENST00000378789.3	-	6	897	c.846G>A	c.(844-846)gtG>gtA	p.V282V		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	282	FMN hydroxy acid dehydrogenase.				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CCTTCCCTTCCACAGCCTCCA	0.483000													41	64					0	0	0.000589545	0	0
SLC9C1	285335	broad.mit.edu	37	3	111927084	111927084	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:111927084C>T	ENST00000305815.5	-	16	2179	c.1927G>A	c.(1927-1929)Gaa>Aaa	p.E643K	SLC9C1_ENST00000487372.1_Missense_Mutation_p.E595K	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	643	Ion transport-like.				cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										TGTTTTAATTCGCTGTGGTAG	0.303000													81	116					0	0	0.000781405	0	0
LAMA2	3908	broad.mit.edu	37	6	129635813	129635813	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:129635813G>A	ENST00000421865.2	+	24	3474	c.3425G>A	c.(3424-3426)gGc>gAc	p.G1142D		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1142	Laminin EGF-like 13.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		AATGTGGAAGGCATCCACTGT	0.512000													12	28					0	0	0.000151284	0	0
TEP1	7011	broad.mit.edu	37	14	20856088	20856088	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr14:20856088G>A	ENST00000262715.5	-	18	2700	c.2660C>T	c.(2659-2661)cCc>cTc	p.P887L	TEP1_ENST00000556935.1_Missense_Mutation_p.P779L	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	887					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		AGGAGCCAAGGGGCTTGGAGT	0.532000													23	48					0	0	0.000878237	0	0
KIF21A	55605	broad.mit.edu	37	12	39731002	39731002	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:39731002G>A	ENST00000395670.3	-	17	2733	c.2314C>T	c.(2314-2316)Cgc>Tgc	p.R772C	KIF21A_ENST00000541463.2_Missense_Mutation_p.R759C|KIF21A_ENST00000361418.5_Missense_Mutation_p.R772C|KIF21A_ENST00000361961.3_Missense_Mutation_p.R759C|KIF21A_ENST00000544797.2_Missense_Mutation_p.R759C			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	772					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)				TTCATTAGGCGAACCTAACCA	0.338000													20	33					0	0	0.00121646	0	0
STAB2	55576	broad.mit.edu	37	12	104092977	104092977	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:104092977T>A	ENST00000388887.2	+	34	3890	c.3686T>A	c.(3685-3687)tTc>tAc	p.F1229Y		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	1229	FAS1 4.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TTCTCCTATTTCCTTAGCTTC	0.478000													12	15					0	0	0.000151284	0	0
FAM9B	171483	broad.mit.edu	37	X	8997363	8997363	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:8997363T>A	ENST00000362066.3	-	5	686	c.498A>T	c.(496-498)gaA>gaT	p.E166D	FAM9B_ENST00000428477.1_Missense_Mutation_p.E126D|FAM9B_ENST00000327220.5_Missense_Mutation_p.E126D			Q8IZU0	FAM9B_HUMAN	family with sequence similarity 9, member B	126						nucleus				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11		Hepatocellular(5;0.219)				Gttcttcctcttctccctctt	0.383000													13	9					0	0	0.00136819	0	0
USP9X	8239	broad.mit.edu	37	X	41088904	41088904	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:41088904C>T	ENST00000324545.7	+	43	7936	c.7303C>T	c.(7303-7305)Cct>Tct	p.P2435S	USP9X_ENST00000378308.2_Missense_Mutation_p.P2435S	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	2435					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TACTGGCAATCCTCAGTACAC	0.428000													25	42					0	0	0.000586117	0	0
CDH20	28316	broad.mit.edu	37	18	59170282	59170282	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr18:59170282G>A	ENST00000262717.4	+	5	1156	c.758G>A	c.(757-759)gGa>gAa	p.G253E	CDH20_ENST00000536675.2_Missense_Mutation_p.G253E|CDH20_ENST00000538374.1_Missense_Mutation_p.G253E			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	253	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				CAGCTTGGAGGATTAGCTGGG	0.502000											OREG0025026	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	26	64					0	0	0.000720815	0	0
CAPN10	11132	broad.mit.edu	37	2	241533346	241533346	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:241533346C>T	ENST00000391984.2	+	5	908	c.712C>T	c.(712-714)Cat>Tat	p.H238Y	CAPN10_ENST00000391982.2_Missense_Mutation_p.H238Y|CAPN10_ENST00000354082.4_Missense_Mutation_p.H238Y|CAPN10_ENST00000352879.4_Intron|CAPN10_ENST00000404753.3_Missense_Mutation_p.H238Y|CAPN10_ENST00000270364.7_Intron	NM_023083.3	NP_075571.1	Q9HC96	CAN10_HUMAN	calpain 10	238	Calpain catalytic.				actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		GGGGGAGTTCCATGCCTTCAT	0.657000													55	102					0	0	0.000781405	0	0
MYH1	4619	broad.mit.edu	37	17	10399579	10399579	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr17:10399579C>T	ENST00000226207.5	-	34	5038	c.4944G>A	c.(4942-4944)agG>agA	p.R1648R	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1648				R -> Q (in Ref. 4; CAA27380).		muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CTTGGGTGTTCCTATAGTTCC	0.498000													29	63					0	0	0.000491102	0	0
IQGAP2	10788	broad.mit.edu	37	5	75997022	75997022	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:75997022G>A	ENST00000274364.6	+	34	4786	c.4489G>A	c.(4489-4491)Gat>Aat	p.D1497N	IQGAP2_ENST00000502745.1_Missense_Mutation_p.D993N|IQGAP2_ENST00000379730.3_Missense_Mutation_p.D999N|CTD-2384B11.2_ENST00000507514.1_RNA|IQGAP2_ENST00000396234.3_Missense_Mutation_p.D993N	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	1497					small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		AGATATAGATGATCTTCAAAC	0.463000													29	38					0	0	0.000692331	0	0
MXRA5	25878	broad.mit.edu	37	X	3228042	3228042	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:3228042C>T	ENST00000217939.6	-	7	8356	c.8202G>A	c.(8200-8202)cgG>cgA	p.R2734R		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2734	Ig-like C2-type 12.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CGCTGGTGATCCGGGGAGGAT	0.597000													15	28					0	0	0.00074312	0	0
HEXB	3074	broad.mit.edu	37	5	73989524	73989524	+	Nonsense_Mutation	SNP	T	T	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:73989524T>A	ENST00000261416.7	+	3	623	c.506T>A	c.(505-507)tTa>tAa	p.L169*	HEXB_ENST00000511181.1_5'UTR	NM_000521.3	NP_000512.1	P07686	HEXB_HUMAN	hexosaminidase B (beta polypeptide)	169					cell death	lysosome	cation binding|protein heterodimerization activity|protein homodimerization activity			endometrium(2)|kidney(3)|large_intestine(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.72e-57)		TGGGGAGCATTACGAGGTAAG	0.383000													29	35					0	0	0.00058488	0	0
RCOR1	23186	broad.mit.edu	37	14	103187353	103187353	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr14:103187353A>G	ENST00000262241.6	+	9	1289	c.1063A>G	c.(1063-1065)Att>Gtt	p.I355V	RCOR1_ENST00000570597.1_Missense_Mutation_p.I352V	NM_015156.3	NP_055971.2	Q9UKL0	RCOR1_HUMAN	REST corepressor 1	352	Interaction with KDM1A.				blood coagulation|histone H4 deacetylation|interspecies interaction between organisms	transcriptional repressor complex	protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						GATCCAGAATATTAAACAGAC	0.294000													96	115					0	0	0.000781405	0	0
KLK3	354	broad.mit.edu	37	19	51358246	51358246	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:51358246T>G	ENST00000360617.3	+	1	35	c.35T>G	c.(34-36)gTg>gGg	p.V12G	KLK3_ENST00000597483.1_Missense_Mutation_p.V12G|KLK3_ENST00000326003.2_Missense_Mutation_p.V12G|KLK3_ENST00000593997.1_Missense_Mutation_p.V12G|KLK3_ENST00000595952.1_Missense_Mutation_p.V12G			P07288	KLK3_HUMAN	kallikrein-related peptidase 3	12					negative regulation of angiogenesis|proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		ACCCTGTCCGTGACGTGGATT	0.647000													10	26					0	0	0.000978159	0	0
ARHGEF26	26084	broad.mit.edu	37	3	153905608	153905608	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:153905608G>A	ENST00000356448.4	+	7	1906	c.1622G>A	c.(1621-1623)cGa>cAa	p.R541Q	ARHGEF26_ENST00000465817.1_Intron|ARHGEF26_ENST00000465093.1_Missense_Mutation_p.R541Q	NM_001251962.1	NP_001238891.1	Q96DR7	ARHGQ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 26	541	DH.				regulation of Rho protein signal transduction	intracellular|ruffle	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						TACCAACAACGAACACTACAA	0.323000													6	22					0	0	0.000157383	0	0
TEX14	56155	broad.mit.edu	37	17	56664997	56664997	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr17:56664997G>A	ENST00000389934.3	-	17	2850	c.2733C>T	c.(2731-2733)atC>atT	p.I911I	TEX14_ENST00000349033.5_Silent_p.I911I|TEX14_ENST00000240361.8_Silent_p.I917I	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN	testis expressed 14	917						cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTGCATTATAGATTTCAGAAG	0.383000											OREG0024616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	35					0	0	0.000375601	0	0
PLSCR2	57047	broad.mit.edu	37	3	146177821	146177821	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:146177821C>T	ENST00000497985.1	-	4	529	c.90G>A	c.(88-90)ggG>ggA	p.G30G	PLSCR2_ENST00000336685.2_5'UTR	NM_001199978.1	NP_001186907.1	Q9NRY7	PLS2_HUMAN	phospholipid scramblase 2	0					phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity			endometrium(2)|large_intestine(5)|lung(7)|stomach(1)	15						CAGCCTGTTTCCCAGTGTGTC	0.517000													4	5					0	0	0.00024832	0	0
JAKMIP2	9832	broad.mit.edu	37	5	147019205	147019205	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:147019205C>T	ENST00000265272.5	-	10	1987	c.1520G>A	c.(1519-1521)cGa>cAa	p.R507Q	JAKMIP2_ENST00000507386.1_Missense_Mutation_p.R507Q|JAKMIP2_ENST00000333010.6_Missense_Mutation_p.R465Q	NM_014790.3	NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	507						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTGGCTTCTCGTTCAGCGTC	0.448000													131	237					0	0	0.000781405	0	0
DSCAM	1826	broad.mit.edu	37	21	41719788	41719788	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr21:41719788G>A	ENST00000400454.1	-	6	1496	c.1019C>T	c.(1018-1020)aCt>aTt	p.T340I		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	340	Ig-like C2-type 4.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CTGGTCCTCAGTTCCTGTCAC	0.488000													33	55					0	0	0.00178596	0	0
NFKBIZ	64332	broad.mit.edu	37	3	101572119	101572119	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:101572119C>T	ENST00000326172.5	+	5	864	c.749C>T	c.(748-750)cCc>cTc	p.P250L	NFKBIZ_ENST00000394054.2_Missense_Mutation_p.P150L|NFKBIZ_ENST00000326151.5_Intron	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta	250					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						CAGAGCTCCCCCGCAGAGCAG	0.517000													25	40					0	0	0.00047179	0	0
PRKG2	5593	broad.mit.edu	37	4	82125774	82125774	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr4:82125774G>A	ENST00000395578.1	-	2	544	c.428C>T	c.(427-429)tCc>tTc	p.S143F	PRKG2_ENST00000418486.2_Missense_Mutation_p.S143F|PRKG2_ENST00000264399.1_Missense_Mutation_p.S143F			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	143					platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						TTTCTCAAAGGAAAATTCAGG	0.453000													117	92					0	0	0.000781405	0	0
CADM3	57863	broad.mit.edu	37	1	159166699	159166699	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:159166699G>A	ENST00000368125.4	+	7	958	c.801G>A	c.(799-801)tgG>tgA	p.W267*	CADM3_ENST00000497636.1_3'UTR|CTA-134P22.2_ENST00000415675.2_RNA|CADM3_ENST00000368124.4_Nonsense_Mutation_p.W301*	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	267	Ig-like C2-type 2.				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					AGTACCTATGGGAGAAGGAGG	0.537000													19	48					0	0	0.000958276	0	0
VPS13C	54832	broad.mit.edu	37	15	62205598	62205598	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr15:62205598G>A	ENST00000261517.5	-	62	8535	c.8462C>T	c.(8461-8463)tCa>tTa	p.S2821L	VPS13C_ENST00000395898.3_Missense_Mutation_p.S2778L|VPS13C_ENST00000249837.3_Missense_Mutation_p.S2778L|VPS13C_ENST00000395896.4_Missense_Mutation_p.S2821L	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	2821					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						GGCACTGGTTGAAATTTTTAA	0.378000													32	66					0	0	0.00058488	0	0
FUS	2521	broad.mit.edu	37	16	31202393	31202393	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr16:31202393G>A	ENST00000254108.7	+	14	1608	c.1503G>A	c.(1501-1503)ggG>ggA	p.G501G	FUS_ENST00000568685.1_Silent_p.G502G|FUS_ENST00000474990.1_3'UTR|FUS_ENST00000380244.3_Silent_p.G500G	NM_001170634.1|NM_001170937.1|NM_004960.3	NP_001164105.1|NP_001164408.1|NP_004951.1	P35637	FUS_HUMAN	fused in sarcoma	501	Arg/Gly-rich.				cell death|nuclear mRNA splicing, via spliceosome	nucleoplasm	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)		GGGGTGGTGGGGACAGAGGTG	0.592000			T	"""DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"""	"""liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"""								13	32					0	0	0.000151284	0	0
PEG3	5178	broad.mit.edu	37	19	57328369	57328369	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:57328369C>T	ENST00000326441.9	-	10	1804	c.1441G>A	c.(1441-1443)Gag>Aag	p.E481K	ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.E357K|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.E355K|PEG3_ENST00000423103.2_Missense_Mutation_p.E481K|ZIM2_ENST00000601070.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	481					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TCACCATACTCATAGAGGTTC	0.453000													38	78					0	0	0.000692331	0	0
OPN5	221391	broad.mit.edu	37	6	47754326	47754326	+	Missense_Mutation	SNP	A	A	C			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:47754326A>C	ENST00000489301.2	+	2	291	c.206A>C	c.(205-207)gAa>gCa	p.E69A	OPN5_ENST00000371211.2_Missense_Mutation_p.E69A|OPN5_ENST00000393699.2_Missense_Mutation_p.E69A			Q6U736	OPN5_HUMAN	opsin 5	69					phototransduction|protein-chromophore linkage|visual perception	integral to membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						AGACCCGCTGAAATAATGACT	0.383000													17	47					0	0	0.000566183	0	0
GPR116	221395	broad.mit.edu	37	6	46874485	46874485	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:46874485C>T	ENST00000283296.7	-	2	303	c.15G>A	c.(13-15)agG>agA	p.R5R	GPR116_ENST00000265417.7_Silent_p.R5R|RP3-365O12.2_ENST00000451135.1_RNA|GPR116_ENST00000362015.4_Silent_p.R5R|GPR116_ENST00000456426.2_Silent_p.R5R	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	5					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			AAGTGGTTCTCCTTGGGGATT	0.358000													32	44					0	0	0.00058488	0	0
NMNAT3	349565	broad.mit.edu	37	3	139297856	139297856	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:139297856C>T	ENST00000406164.1	-	4	603	c.40G>A	c.(40-42)Gac>Aac	p.D14N	NMNAT3_ENST00000339837.5_Missense_Mutation_p.D14N|NMNAT3_ENST00000511444.1_Missense_Mutation_p.D14N|NMNAT3_ENST00000507242.1_5'UTR|RP11-319G6.1_ENST00000515247.1_RNA|RP11-319G6.1_ENST00000381790.3_RNA|NMNAT3_ENST00000512391.1_Missense_Mutation_p.D51N|NMNAT3_ENST00000296202.7_Missense_Mutation_p.D51N|NMNAT3_ENST00000406824.1_5'UTR|NMNAT3_ENST00000413939.2_Intron			Q96T66	NMNA3_HUMAN	nicotinamide nucleotide adenylyltransferase 3	51					water-soluble vitamin metabolic process	cytosol|mitochondrion	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)	9						CCATAGGTGTCGTTGACAGGA	0.572000													14	22					0	0	0.000219431	0	0
ERCC6L	54821	broad.mit.edu	37	X	71427528	71427528	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:71427528C>T	ENST00000373657.1	-	3	1322	c.720G>A	c.(718-720)agG>agA	p.R240R	ERCC6L_ENST00000334463.3_Silent_p.R363R|PIN4_ENST00000423432.2_Intron			Q2NKX8	ERC6L_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6-like	363	Helicase ATP-binding.				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					AATCATTTTTCCTGGAAAGGG	0.363000													51	106					0	0	0.000781405	0	0
DNAH1	25981	broad.mit.edu	37	3	52426985	52426985	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:52426985C>T	ENST00000420323.2	+	65	10679	c.10418C>T	c.(10417-10419)tCc>tTc	p.S3473F		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3538	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TACCAGTACTCCCTTGAGTGG	0.582000													40	66					0	0	0.000680045	0	0
FOXA1	3169	broad.mit.edu	37	14	38061585	38061585	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr14:38061585T>C	ENST00000250448.2	-	2	465	c.404A>G	c.(403-405)aAc>aGc	p.N135S	FOXA1_ENST00000540786.1_Missense_Mutation_p.N102S|FOXA1_ENST00000545425.2_5'UTR	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	135					chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		CATGCACGGGTTCATGGCGGC	0.736000													8	10					0	0	0.000157383	0	0
IL3RA	3563	broad.mit.edu	37	X	1471298	1471298	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:1471298G>A	ENST00000331035.4	+	6	864	c.515G>A	c.(514-516)cGa>cAa	p.R172Q	IL3RA_ENST00000381469.2_Missense_Mutation_p.R94Q	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	172						integral to membrane|plasma membrane	interleukin-3 receptor activity			lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	GACATCTCTCGACTCTCCAGC	0.532000													46	86					0	0	0.000781405	0	0
MUC16	94025	broad.mit.edu	37	19	9083027	9083027	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:9083027A>T	ENST00000397910.4	-	1	8991	c.8788T>A	c.(8788-8790)Tcc>Acc	p.S2930T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2931	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						GGAGACTTGGACAGTGAGGAA	0.468000													24	50					0	0	0.000878237	0	0
VNN3	55350	broad.mit.edu	37	6	133049906	133049906	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:133049906C>T	ENST00000367927.5	-	3	583	c.511G>A	c.(511-513)Gga>Aga	p.G171R	VNN3_ENST00000392393.3_3'UTR|VNN3_ENST00000450865.2_Intron|VNN3_ENST00000414302.2_Intron|VNN3_ENST00000425515.2_3'UTR|VNN3_ENST00000275223.3_3'UTR|VNN3_ENST00000509351.1_Intron|VNN3_ENST00000423615.2_Intron|VNN3_ENST00000417437.2_Intron|VNN3_ENST00000519686.2_3'UTR|VNN3_ENST00000427187.2_Missense_Mutation_p.G171R|VNN3_ENST00000207771.3_Missense_Mutation_p.G171R					vanin 3											cervix(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	8	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00242)|GBM - Glioblastoma multiforme(226;0.0168)		AACAGTTTTCCCTGAGAATCA	0.463000													18	35					0	0	0.00074312	0	0
SNHG14	104472715	broad.mit.edu	37	15	25455073	25455073	+	RNA	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr15:25455073G>A	ENST00000424208.1	+	0	2384				SNHG14_ENST00000450809.1_RNA|SNHG14_ENST00000424333.1_RNA|SNORD115-22_ENST00000364456.1_RNA	NR_003305.1																						TTGGGTCAATGATGAGAACCT	0.512000													75	138					0	0	0.000781405	0	0
WISP1	8840	broad.mit.edu	37	8	134232969	134232969	+	Silent	SNP	C	C	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr8:134232969C>A	ENST00000250160.6	+	3	601	c.495C>A	c.(493-495)ctC>ctA	p.L165L	WISP1_ENST00000377863.2_Intron|WISP1_ENST00000220856.6_Intron|WISP1_ENST00000517423.1_Intron|WISP1_ENST00000519433.1_Intron	NM_003882.3	NP_003873.1	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	165	VWFC.				cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			CCCCGCGTCTCTGGTGCCCCC	0.672000													20	27					0.000295444	0.00165734	0.000295444	1	0
ZNF813	126017	broad.mit.edu	37	19	53994194	53994194	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:53994194C>T	ENST00000396403.4	+	4	836	c.708C>T	c.(706-708)atC>atT	p.I236I	ZNF813_ENST00000396421.4_Intron	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	236					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		ATCAAATAATCCATTTAGGAG	0.388000													31	57					0	0	0.001512	0	0
CNOT1	23019	broad.mit.edu	37	16	58557398	58557398	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr16:58557398G>A	ENST00000317147.5	-	47	7125	c.6793C>T	c.(6793-6795)Ctc>Ttc	p.L2265F	CNOT1_ENST00000569240.1_Missense_Mutation_p.L2260F|CNOT1_ENST00000245138.4_Missense_Mutation_p.L1116F	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	2265					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TTCAAAAAGAGATAGCGACCT	0.443000													30	43					0	0	0.000339439	0	0
KIAA1217	56243	broad.mit.edu	37	10	24762301	24762301	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr10:24762301C>T	ENST00000376451.2	+	2	405	c.145C>T	c.(145-147)Cct>Tct	p.P49S	KIAA1217_ENST00000376462.1_Missense_Mutation_p.P251S|KIAA1217_ENST00000458595.1_Missense_Mutation_p.P331S|KIAA1217_ENST00000430453.2_Missense_Mutation_p.P252S|KIAA1217_ENST00000376454.3_Missense_Mutation_p.P331S|KIAA1217_ENST00000307544.6_Missense_Mutation_p.P49S|KIAA1217_ENST00000396446.1_Missense_Mutation_p.P49S|KIAA1217_ENST00000396445.1_Missense_Mutation_p.P49S|KIAA1217_ENST00000376452.3_Missense_Mutation_p.P331S			Q5T5P2	SKT_HUMAN	KIAA1217	331					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						GTCCAGAATTCCTTATGGGGG	0.612000													16	8					0	0	0.000308642	0	0
MROH2B	133558	broad.mit.edu	37	5	41038872	41038872	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:41038872G>A	ENST00000399564.4	-	21	2630	c.2180C>T	c.(2179-2181)tCc>tTc	p.S727F	MROH2B_ENST00000506092.2_Missense_Mutation_p.S282F	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		CAGGACTTGGGATATGATATC	0.507000													12	26					0	0	0.00136819	0	0
RABEP1	9135	broad.mit.edu	37	17	5212019	5212019	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr17:5212019A>T	ENST00000262477.6	+	2	289	c.65A>T	c.(64-66)gAa>gTa	p.E22V	RABEP1_ENST00000546142.2_Missense_Mutation_p.E22V|RABEP1_ENST00000408982.2_Missense_Mutation_p.E22V|RABEP1_ENST00000341923.6_Missense_Mutation_p.E22V|RABEP1_ENST00000537505.1_Intron	NM_004703.4	NP_004694.2	Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	22					apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						GCAGAATTGGAAAAAATTAAT	0.303000													15	22					0	0	0.000308642	0	0
PEAK1	79834	broad.mit.edu	37	15	77474242	77474242	+	Silent	SNP	T	T	C			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr15:77474242T>C	ENST00000560626.2	-	4	502	c.27A>G	c.(25-27)gaA>gaG	p.E9E	PEAK1_ENST00000312493.4_Silent_p.E9E|PEAK1_ENST00000558305.1_Silent_p.E9E			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	9					cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding										TCCAAACATGTTCAGTAAAGG	0.398000													34	43					0	0	0.00058488	0	0
OR10X1	128367	broad.mit.edu	37	1	158549411	158549411	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:158549411G>A	ENST00000368150.1	-	1	278	c.279C>T	c.(277-279)atC>atT	p.I93I		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					TCTTGGGGACGATGGTCAGCG	0.502000													15	33					0	0	0.000308642	0	0
NAV3	89795	broad.mit.edu	37	12	78562585	78562585	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:78562585G>T	ENST00000397909.2	+	24	5093	c.4920G>T	c.(4918-4920)caG>caT	p.Q1640H	NAV3_ENST00000266692.7_Missense_Mutation_p.Q1463H|NAV3_ENST00000536525.2_Missense_Mutation_p.Q1640H|NAV3_ENST00000228327.6_Missense_Mutation_p.Q1640H			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1640						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TGAAGGCTCAGAATTCTGCTG	0.393000										HNSCC(70;0.22)			39	78					2.13384e-23	1.21261e-22	0.000781405	1	0
ESM1	11082	broad.mit.edu	37	5	54281074	54281074	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:54281074G>A	ENST00000381405.4	-	1	417	c.272C>T	c.(271-273)cCt>cTt	p.P91L	ESM1_ENST00000381403.4_Missense_Mutation_p.P91L|ESM1_ENST00000598310.1_Intron	NM_007036.4	NP_008967.1	Q9NQ30	ESM1_HUMAN	endothelial cell-specific molecule 1	91	IGFBP N-terminal.				angiogenesis|regulation of cell growth	extracellular region	growth factor activity|insulin-like growth factor binding			breast(1)|kidney(1)|large_intestine(4)|lung(4)	10		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.116)	Lung(15;0.23)			TTCACCAAAAGGATCCTCCCC	0.572000													43	66					0	0	0.000589545	0	0
OSBPL7	114881	broad.mit.edu	37	17	45885931	45885931	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr17:45885931T>C	ENST00000007414.3	-	22	2584	c.2393A>G	c.(2392-2394)aAc>aGc	p.N798S	OSBPL7_ENST00000392507.3_Missense_Mutation_p.N798S	NM_145798.2	NP_665741.1	Q9BZF2	OSBL7_HUMAN	oxysterol binding protein-like 7	798					lipid transport		lipid binding			autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						GTGTACGATGTTGTTTTCCTC	0.627000													73	104					0	0	0.000781405	0	0
CCR3	1232	broad.mit.edu	37	3	46307149	46307149	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:46307149C>T	ENST00000357422.2	+	4	1043	c.500C>T	c.(499-501)cCt>cTt	p.P167L	CCR3_ENST00000395942.2_Missense_Mutation_p.P167L|CCR3_ENST00000395940.2_Missense_Mutation_p.P167L|CCR3_ENST00000545097.1_Missense_Mutation_p.P188L|CCR3_ENST00000541018.1_Missense_Mutation_p.P167L			P51677	CCR3_HUMAN	chemokine (C-C motif) receptor 3	167					cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis	integral to plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		GCAGCTCTTCCTGAATTTATC	0.493000													31	46					0	0	0.00178596	0	0
OR10P1	121130	broad.mit.edu	37	12	56031459	56031459	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:56031459C>T	ENST00000309675.2	+	1	816	c.784C>T	c.(784-786)Cgg>Tgg	p.R262W		NM_206899.1	NP_996782.1	Q8NGE3	O10P1_HUMAN	olfactory receptor, family 10, subfamily P, member 1	262					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						CACCTACATCCGGCCGCAGGC	0.577000													28	53					0	0	0.00178596	0	0
ITFG2	55846	broad.mit.edu	37	12	2927308	2927308	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:2927308C>T	ENST00000228799.2	+	4	410	c.271C>T	c.(271-273)Cat>Tat	p.H91Y	ITFG2_ENST00000419778.2_Intron|ITFG2_ENST00000542548.1_5'UTR	NM_018463.3	NP_060933.3	Q969R8	ITFG2_HUMAN	integrin alpha FG-GAP repeat containing 2	91										central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			AGGCTGGTTTCATTTGTTTGA	0.517000													28	44					0	0	0.00127121	0	0
TPTE	7179	broad.mit.edu	37	21	10914379	10914379	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr21:10914379G>A	ENST00000298232.7	-	20	1653	c.1286C>T	c.(1285-1287)tCa>tTa	p.S429L	TPTE_ENST00000342420.5_Missense_Mutation_p.S409L|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.S447L	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	447	C2 tensin-type.				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)		TTTTCCTAATGAAATAGTGGA	0.328000													10	65					0	0	0.000151284	0	0
GPR64	10149	broad.mit.edu	37	X	19042051	19042051	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:19042051G>A	ENST00000354791.3	-	11	679	c.438C>T	c.(436-438)aaC>aaT	p.N146N	GPR64_ENST00000357544.3_Silent_p.N132N|GPR64_ENST00000379869.3_Silent_p.N162N|GPR64_ENST00000379876.1_Silent_p.N138N|GPR64_ENST00000340581.3_Silent_p.N132N|GPR64_ENST00000379878.3_Silent_p.N146N|GPR64_ENST00000379873.2_Silent_p.N162N|GPR64_ENST00000357991.3_Silent_p.N159N|GPR64_ENST00000356606.4_Silent_p.N148N|GPR64_ENST00000360279.4_Silent_p.N140N			Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	162					neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					GCAGGGTTTTGTTGAGCTCTG	0.358000													22	37					0	0	0.000878237	0	0
EGFLAM	133584	broad.mit.edu	37	5	38406929	38406929	+	Splice_Site	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:38406929G>A	ENST00000322350.5	+	8	1174		c.e8-1		EGFLAM_ENST00000397202.2_Intron|EGFLAM_ENST00000354891.3_Splice_Site|EGFLAM_ENST00000336740.6_Splice_Site	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains							cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TCTGGCTTTAGGTTAAACCAC	0.398000													15	16					0	0	0.000308642	0	0
CADM2	253559	broad.mit.edu	37	3	86115815	86115815	+	Splice_Site	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:86115815G>A	ENST00000383699.3	+	10	1724	c.1096_splice	c.e10-1	p.G366_splice	CADM2_ENST00000405615.2_Splice_Site_p.G399_splice|CADM2_ENST00000407528.2_Splice_Site_p.G397_splice	NM_001167675.1|NM_001256504.1|NM_001256505.1	NP_001161147.1|NP_001243433.1|NP_001243434.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	397					adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		ATATATGCAGGAACGTATTTA	0.373000													22	32					0	0	0.000375601	0	0
CACNG4	27092	broad.mit.edu	37	17	65026931	65026931	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr17:65026931C>T	ENST00000262138.3	+	4	797	c.795C>T	c.(793-795)atC>atT	p.I265I		NM_014405.3	NP_055220.1	Q9UBN1	CCG4_HUMAN	calcium channel, voltage-dependent, gamma subunit 4	265					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane	voltage-gated calcium channel activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19	all_cancers(12;9.86e-11)		BRCA - Breast invasive adenocarcinoma(6;1.35e-07)			GCCTGAAGATCACAGGGGCCA	0.677000													16	21					0	0	0.000308642	0	0
IGF2BP3	10643	broad.mit.edu	37	7	23391174	23391174	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr7:23391174C>G	ENST00000258729.3	-	6	789	c.433G>C	c.(433-435)Gag>Cag	p.E145Q	IGF2BP3_ENST00000491719.1_5'UTR	NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding protein 3	145	RRM 2.				anatomical structure morphogenesis|negative regulation of translation|translation	cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						GTGAAATTCTCTAACTGAAAT	0.502000													33	39					0	0	0.00058488	0	0
MFAP5	8076	broad.mit.edu	37	12	8808044	8808044	+	Splice_Site	SNP	C	C	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:8808044C>A	ENST00000359478.2	-	5	327		c.e5-1		MFAP5_ENST00000535336.1_Splice_Site|MFAP5_ENST00000396549.2_Splice_Site|MFAP5_ENST00000543369.1_Splice_Site|MFAP5_ENST00000538107.1_Splice_Site|MFAP5_ENST00000540087.1_Splice_Site|MFAP5_ENST00000433590.2_Splice_Site	NM_003480.2	NP_003471.1	Q13361	MFAP5_HUMAN	microfibrillar associated protein 5							microfibril	extracellular matrix structural constituent			breast(1)|endometrium(2)|large_intestine(4)|lung(5)|skin(1)	13	Lung SC(5;0.184)					TTCACCAGATCTGCAAAGACA	0.378000													12	30					6.31663e-08	3.57043e-07	0.000308642	1	0
POSTN	10631	broad.mit.edu	37	13	38144728	38144728	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr13:38144728C>T	ENST00000379747.4	-	19	2375	c.2258G>A	c.(2257-2259)cGa>cAa	p.R753Q	POSTN_ENST00000541481.1_Intron|POSTN_ENST00000379743.4_Missense_Mutation_p.R726Q|POSTN_ENST00000497145.1_5'UTR|POSTN_ENST00000541179.1_Missense_Mutation_p.R726Q|POSTN_ENST00000379749.4_Missense_Mutation_p.R753Q|POSTN_ENST00000379742.4_Missense_Mutation_p.R696Q	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	753					cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		TGTAATGATTCGTTCTTCTCG	0.318000													23	40					0	0	0.000720815	0	0
DOCK3	1795	broad.mit.edu	37	3	51297745	51297745	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:51297745C>T	ENST00000266037.9	+	23	2366	c.2343C>T	c.(2341-2343)ctC>ctT	p.L781L		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	781						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CAGAAACACTCCTTTTTACTC	0.468000													7	17					0	0	0.000442599	0	0
AKAP11	11215	broad.mit.edu	37	13	42875532	42875532	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr13:42875532G>T	ENST00000025301.2	+	8	2825	c.2650G>T	c.(2650-2652)Gta>Tta	p.V884L		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	884					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		GCATACGATAGTAAATGAAAC	0.338000													5	28					1.23904e-05	6.97172e-05	0.000602214	1	0
TTBK1	84630	broad.mit.edu	37	6	43227423	43227423	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:43227423G>A	ENST00000259750.4	+	12	1486	c.1403G>A	c.(1402-1404)cGa>cAa	p.R468Q	TTBK1_ENST00000304139.5_Missense_Mutation_p.R417Q	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	468						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			GCGGACGGGCGAGTGGAGCTA	0.657000													4	4					0	0	0.00116845	0	0
MUTYH	4595	broad.mit.edu	37	1	45797397	45797397	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:45797397G>A	ENST00000450313.1	-	12	1337	c.1122C>T	c.(1120-1122)acC>acT	p.T374T	MUTYH_ENST00000529984.1_Intron|MUTYH_ENST00000372110.3_Silent_p.T361T|MUTYH_ENST00000372100.5_Silent_p.T357T|MUTYH_ENST00000456914.2_Silent_p.T346T|MUTYH_ENST00000355498.2_Silent_p.T346T|MUTYH_ENST00000448481.1_Silent_p.T357T|MUTYH_ENST00000488731.2_Intron|MUTYH_ENST00000531105.1_Intron|MUTYH_ENST00000372115.3_Silent_p.T360T|MUTYH_ENST00000354383.6_Silent_p.T347T|MUTYH_ENST00000372104.1_Silent_p.T346T|MUTYH_ENST00000528332.2_Intron|MUTYH_ENST00000372098.3_Silent_p.T371T	NM_001128425.1|NM_012222.2	NP_001121897.1|NP_036354.1	Q9UIF7	MUTYH_HUMAN	mutY homolog	371	Nudix hydrolase.				depurination|mismatch repair	nucleoplasm	4 iron, 4 sulfur cluster binding|DNA N-glycosylase activity|endonuclease activity|metal ion binding|MutSalpha complex binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					CCAGAACACAGGTGGCAGAGC	0.647000			Mis			colorectal		Base excision repair (BER), DNA glycosylases	MUTYH-associated polyposis				11	20					0	0	0.000978159	0	0
VANGL2	57216	broad.mit.edu	37	1	160389128	160389128	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:160389128C>T	ENST00000368061.2	+	4	1003	c.529C>T	c.(529-531)Cgc>Tgc	p.R177C		NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	177					apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CTCGCTGCCCCGCGTCTTTGT	0.627000													46	53					0	0	0.000781405	0	0
TTLL7	79739	broad.mit.edu	37	1	84408234	84408234	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:84408234G>A	ENST00000260505.8	-	7	1012	c.635C>T	c.(634-636)tCg>tTg	p.S212L	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	212	TTL.				cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		TGGATCACACGATGTAACCAG	0.373000													22	39					0	0	0.000375601	0	0
TRBV7-4	28594	broad.mit.edu	37	7	142176473	142176473	+	RNA	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr7:142176473G>A	ENST00000390369.2	-	0	202																											ATCACTCTGGGAGTAAGTCAG	0.547000													18	40					0	0	0.000958276	0	0
SPAG17	200162	broad.mit.edu	37	1	118644447	118644447	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:118644447C>T	ENST00000336338.5	-	5	615	c.550G>A	c.(550-552)Gat>Aat	p.D184N		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	184	Lys-rich.					cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TCAGGCTGATCCTTTCCCTTT	0.463000													50	83					0	0	0.000781405	0	0
HCN2	610	broad.mit.edu	37	19	614009	614009	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:614009C>T	ENST00000251287.2	+	7	2036	c.1983C>T	c.(1981-1983)gaC>gaT	p.D661D		NM_001194.3	NP_001185.3	Q9UL51	HCN2_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 2	661					cell-cell signaling|muscle contraction	voltage-gated potassium channel complex	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			endometrium(5)|lung(4)	9		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCGCCTGGACCGCATCGGTG	0.706000													5	14					0	0	0.000602214	0	0
TTLL2	83887	broad.mit.edu	37	6	167755067	167755067	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:167755067T>A	ENST00000239587.5	+	3	1767	c.1679T>A	c.(1678-1680)tTt>tAt	p.F560Y		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	560					protein modification process		ATP binding|tubulin-tyrosine ligase activity			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		GTTCTTGTTTTTCCTTTCAAT	0.458000													18	39					0	0	0.000566183	0	0
DOCK3	1795	broad.mit.edu	37	3	51370667	51370667	+	Silent	SNP	A	A	G			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:51370667A>G	ENST00000266037.9	+	35	3617	c.3594A>G	c.(3592-3594)gaA>gaG	p.E1198E		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1198	DHR-2.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GCCTCATGGAACGTCTTCTTG	0.542000													25	63					0	0	0.000339439	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802724	185802724	+	Silent	SNP	G	G	A	rs112021606	byFrequency	TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:185802724G>A	ENST00000302277.6	+	4	3195	c.2601G>A	c.(2599-2601)agG>agA	p.R867R		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	867						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						AAATCGAAAGGAACTCAGAAC	0.358000													28	48					0	0	0.000878237	0	0
XIRP2	129446	broad.mit.edu	37	2	168108204	168108204	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:168108204G>A	ENST00000409195.1	+	9	10391	c.10302G>A	c.(10300-10302)atG>atA	p.M3434I	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.M3434I|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.M3212I	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3259					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGTCGAAGATGAAAACCTCTT	0.448000													34	29					0	0	0.000692331	0	0
QKI	9444	broad.mit.edu	37	6	163984665	163984665	+	Nonsense_Mutation	SNP	T	T	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:163984665T>A	ENST00000361752.3	+	6	1399	c.848T>A	c.(847-849)tTa>tAa	p.L283*	QKI_ENST00000453779.2_Nonsense_Mutation_p.L283*|QKI_ENST00000361195.2_Nonsense_Mutation_p.L275*|QKI_ENST00000392127.2_Nonsense_Mutation_p.L283*|QKI_ENST00000424802.3_Nonsense_Mutation_p.L275*|QKI_ENST00000275262.7_Nonsense_Mutation_p.L283*	NM_006775.2|NM_206853.2|NM_206854.2|NM_206855.2	NP_006766.1|NP_996735.1|NP_996736.1|NP_996737.1	Q96PU8	QKI_HUMAN	QKI, KH domain containing, RNA binding	283					mRNA processing|mRNA transport|regulation of translation|RNA splicing	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding			central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		GAAGCTGGTTTAATCTATACA	0.463000													31	34					0	0	0.001512	0	0
TAF9	6880	broad.mit.edu	37	5	68665291	68665291	+	Splice_Site	SNP	G	G	C			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:68665291G>C	ENST00000380822.4	-	1	78	c.28_splice	c.e1+1	p.T9_splice	RAD17_ENST00000361732.2_5'UTR|TAF9_ENST00000512561.1_Splice_Site_p.T9_splice|TAF9_ENST00000502819.1_5'UTR|TAF9_ENST00000380818.3_Intron|TAF9_ENST00000328663.4_Intron|TAF9_ENST00000217893.5_5'UTR	NM_016283.4	NP_057367.1	Q9Y3D8	KAD6_HUMAN	TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa	9						Cajal body	adenylate kinase activity|ATP binding|protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	8		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176)		CGCCCTGACCGGTGAGCAGGA	0.731000													10	23					0	0	0.00136819	0	0
MUC16	94025	broad.mit.edu	37	19	9046062	9046062	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:9046062C>T	ENST00000397910.4	-	5	35772	c.35569G>A	c.(35569-35571)Gaa>Aaa	p.E11857K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11859	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						GTGCTGGTTTCTGTCCCTGGA	0.493000													33	56					0	0	0.00058488	0	0
GPR32	2854	broad.mit.edu	37	19	51274719	51274719	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:51274719G>A	ENST00000270590.4	+	1	999	c.862G>A	c.(862-864)Gaa>Aaa	p.E288K		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	288						integral to plasma membrane	N-formyl peptide receptor activity			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		GATGCTCAAGGAAATCTACCA	0.567000													17	41					0	0	0.000566183	0	0
ZNF793	390927	broad.mit.edu	37	19	38027988	38027988	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:38027988G>A	ENST00000445217.1	+	4	463	c.428G>A	c.(427-429)gGa>gAa	p.G143E	ZNF793_ENST00000542455.1_Missense_Mutation_p.G143E|ZNF793_ENST00000588578.1_3'UTR|ZNF793_ENST00000587143.1_Missense_Mutation_p.G143E|ZNF793_ENST00000589319.1_Intron			Q6ZN11	ZN793_HUMAN	zinc finger protein 793	143					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(2)|lung(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AACCCTTGTGGAAAGAATTTG	0.353000													8	24					0	0	0.000274275	0	0
ENPP2	5168	broad.mit.edu	37	8	120608147	120608147	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr8:120608147C>T	ENST00000259486.6	-	12	1117	c.1068G>A	c.(1066-1068)aaG>aaA	p.K356K	ENPP2_ENST00000522826.1_Intron|ENPP2_ENST00000427067.2_Intron|ENPP2_ENST00000075322.6_Intron	NM_006209.4	NP_006200.3	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	324					cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TTCTTCTTTTCTTTGGAGGAG	0.443000													42	72					0	0	0.000589545	0	0
PCDHB7	56129	broad.mit.edu	37	5	140553921	140553921	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:140553921C>T	ENST00000231137.3	+	1	1679	c.1505C>T	c.(1504-1506)tCc>tTc	p.S502F		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		502	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCCTCGCCTCCCTGGTCTCC	0.672000													33	44					0	0	0.00128727	0	0
CERCAM	51148	broad.mit.edu	37	9	131198100	131198100	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr9:131198100C>T	ENST00000372842.1	+	13	4614	c.1470C>T	c.(1468-1470)tcC>tcT	p.S490S	CERCAM_ENST00000372838.4_Silent_p.S568S			Q5T4B2	GT253_HUMAN	cerebral endothelial cell adhesion molecule	568					cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen|plasma membrane				endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						GGAGCGGCTCCCAAAAGACCC	0.677000													7	4					0	0	0.000157383	0	0
DMKN	93099	broad.mit.edu	37	19	36004094	36004094	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:36004094A>G	ENST00000339686.3	-	1	460	c.284T>C	c.(283-285)tTg>tCg	p.L95S	DMKN_ENST00000424570.2_Missense_Mutation_p.L95S|DMKN_ENST00000440396.1_Missense_Mutation_p.L95S|DMKN_ENST00000451297.2_Missense_Mutation_p.L95S|DMKN_ENST00000447113.2_Missense_Mutation_p.L95S|DMKN_ENST00000429837.1_Missense_Mutation_p.L95S|DMKN_ENST00000419602.1_Missense_Mutation_p.L95S|DMKN_ENST00000418261.1_Missense_Mutation_p.L95S	NM_033317.4	NP_201574.3	Q6E0U4	DMKN_HUMAN	dermokine	95	Gly-rich.					extracellular region				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CCTGTTGCCCAAAGCATCTGC	0.582000													11	34					0	0	0.000673444	0	0
ZNF544	27300	broad.mit.edu	37	19	58772667	58772667	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:58772667G>A	ENST00000269829.4	+	7	1169	c.695G>A	c.(694-696)gGa>gAa	p.G232E	ZNF544_ENST00000600044.1_Missense_Mutation_p.G204E|ZNF544_ENST00000596825.1_3'UTR|ZNF544_ENST00000599953.1_Missense_Mutation_p.G90E|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000596929.1_Intron|CTD-3138B18.5_ENST00000597230.1_RNA|ZNF544_ENST00000600220.1_Missense_Mutation_p.G204E|ZNF544_ENST00000596652.1_Missense_Mutation_p.G232E|ZNF544_ENST00000595981.1_Intron|ZNF544_ENST00000415203.2_Missense_Mutation_p.G204E|ZNF544_ENST00000599227.1_3'UTR	NM_014480.2	NP_055295.2	Q6NX49	ZN544_HUMAN	zinc finger protein 544	232					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		AGTAAACTTGGAAACGTTGAA	0.383000													36	50					0	0	0.000692331	0	0
LOC344967	344967	broad.mit.edu	37	4	40045197	40045197	+	RNA	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr4:40045197G>A	ENST00000381811.2	-	0	952					NR_027277.1																						CCACCAGGTGGATCAAGCTGG	0.607000													7	12					0	0	0.000442599	0	0
SLC9A9	285195	broad.mit.edu	37	3	142985627	142985627	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:142985627C>T	ENST00000316549.6	-	16	2063	c.1855G>A	c.(1855-1857)Gaa>Aaa	p.E619K		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	619					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						TAAATGTTTTCCTTGCCTGGC	0.502000													39	49					0	0	0.00170553	0	0
SLC15A2	6565	broad.mit.edu	37	3	121649724	121649724	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:121649724C>T	ENST00000489711.1	+	18	1979	c.1591C>T	c.(1591-1593)Ctg>Ttg	p.L531L	SLC15A2_ENST00000295605.2_Silent_p.L500L|SLC15A2_ENST00000465060.1_3'UTR	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	531					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	CAACATCTCCCTGAGTACAGA	0.403000													27	28					0	0	0.000409698	0	0
SNORD114-3	767579	broad.mit.edu	37	14	101419726	101419726	+	RNA	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr14:101419726G>A	ENST00000364969.1	+	0	41					NR_003195.1																						AGTCATGGACGATGAATACTA	0.413000													25	44					0	0	0.001512	0	0
PTPRN2	5799	broad.mit.edu	37	7	157985162	157985162	+	Missense_Mutation	SNP	C	C	T	rs146516476		TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr7:157985162C>T	ENST00000389413.3	-	5	509	c.406G>A	c.(406-408)Gag>Aag	p.E136K	PTPRN2_ENST00000389418.4_Missense_Mutation_p.E136K|PTPRN2_ENST00000389416.4_Missense_Mutation_p.E119K|PTPRN2_ENST00000409483.1_Missense_Mutation_p.E98K|PTPRN2_ENST00000404321.2_Missense_Mutation_p.E159K	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	136						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.E136K(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		TACCTCCTCTCGCTGCCAACG	0.632000													60	41					0	0	0.000781405	0	0
SRGAP2	23380	broad.mit.edu	37	1	206628240	206628240	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:206628240G>A	ENST00000414007.1	+	17	1957	c.1957G>A	c.(1957-1959)Gag>Aag	p.E653K	SRGAP2_ENST00000419187.2_Missense_Mutation_p.E98K|SRGAP2_ENST00000471256.1_3'UTR			O75044	FNBP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	793	Rho-GAP.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					CGGTGTCGTGGAGAGGTCCAG	0.587000													14	44					0	0	0.000308642	0	0
ZNF224	7767	broad.mit.edu	37	19	44610559	44610559	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:44610559C>T	ENST00000336976.6	+	6	500	c.246C>T	c.(244-246)atC>atT	p.I82I	AC084219.4_ENST00000592946.1_RNA	NM_013398.2	NP_037530.2	Q9NZL3	ZN224_HUMAN	zinc finger protein 224	82					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19		Prostate(69;0.0435)				GAGACAAGATCCAAACTGAGA	0.413000													7	22					0	0	0.000157383	0	0
KIF13B	23303	broad.mit.edu	37	8	29023289	29023289	+	Splice_Site	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr8:29023289C>T	ENST00000524189.1	-	12	1197	c.1158_splice	c.e12-1	p.A387_splice	KIF13B_ENST00000521515.1_Splice_Site_p.A387_splice	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	387					microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		GATTTCATTGCCTACAAGCAA	0.428000													15	42					0	0	0.000422831	0	0
ALDH18A1	5832	broad.mit.edu	37	10	97388165	97388165	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr10:97388165C>T	ENST00000371224.2	-	8	1030	c.893G>A	c.(892-894)gGa>gAa	p.G298E	ALDH18A1_ENST00000371221.3_Missense_Mutation_p.G296E	NM_002860.3	NP_002851.2	P54886	P5CS_HUMAN	aldehyde dehydrogenase 18 family, member A1	298	Glutamate 5-kinase.				proline biosynthetic process	mitochondrial inner membrane	ATP binding|glutamate 5-kinase activity|glutamate-5-semialdehyde dehydrogenase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(9)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Colorectal(252;0.0402)		Epithelial(162;9.1e-07)|all cancers(201;2.55e-05)	L-Glutamic Acid(DB00142)	AGACTTGGTTCCAAATGTCAC	0.418000													50	48					0	0	0.000781405	0	0
HTR5A	3361	broad.mit.edu	37	7	154876080	154876080	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr7:154876080G>A	ENST00000287907.2	+	2	1533	c.957G>A	c.(955-957)tgG>tgA	p.W319*	HTR5A_ENST00000486819.1_3'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	319						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		CCGCCATCTGGAAAAGCATCT	0.522000													93	72					0	0	0.000781405	0	0
INF2	64423	broad.mit.edu	37	14	105179883	105179883	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr14:105179883G>A	ENST00000392634.4	+	20	3092	c.2980G>A	c.(2980-2982)Ggg>Agg	p.G994R	INF2_ENST00000330634.7_Missense_Mutation_p.G994R	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	994					actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		CCGGGGCCGCGGGGACACCGA	0.667000													3	7					0	0	0.00024832	0	0
SHROOM4	57477	broad.mit.edu	37	X	50376200	50376200	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:50376200T>A	ENST00000376020.2	-	4	2898	c.2873A>T	c.(2872-2874)aAa>aTa	p.K958I	SHROOM4_ENST00000289292.7_Missense_Mutation_p.K958I|SHROOM4_ENST00000460112.3_Missense_Mutation_p.K842I	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	958					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					CTTCCTGGGTTTCCAAGTGTT	0.483000													5	11					0	0	8.12818e-05	0	0
LOC442028	442028	broad.mit.edu	37	2	95552769	95552769	+	RNA	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:95552769C>T	ENST00000568768.1	-	0	476																											TCAATTCCTCCTTTGTCATAA	0.393000													6	10					0	0	0.00116845	0	0
FCRL3	115352	broad.mit.edu	37	1	157667645	157667645	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:157667645C>T	ENST00000368184.3	-	5	654	c.363G>A	c.(361-363)caG>caA	p.Q121Q	FCRL3_ENST00000473231.1_5'UTR|FCRL3_ENST00000368186.5_Silent_p.Q121Q	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	121	Ig-like C2-type 2.					integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					TGTCTTTCCCCTGACATCTCA	0.418000													34	57					0	0	0.000491102	0	0
CYP2S1	29785	broad.mit.edu	37	19	41703762	41703762	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:41703762G>A	ENST00000310054.4	+	3	638	c.422G>A	c.(421-423)gGg>gAg	p.G141E	CYP2S1_ENST00000542619.1_Intron	NM_030622.6	NP_085125.1	Q96SQ9	CP2S1_HUMAN	cytochrome P450, family 2, subfamily S, polypeptide 1	141					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity			breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						CTGGGCATGGGGAAGCGAGAA	0.622000													26	26					0	0	0.00127121	0	0
PRKCG	5582	broad.mit.edu	37	19	54395856	54395856	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:54395856C>T	ENST00000263431.3	+	7	1062	c.780C>T	c.(778-780)tcC>tcT	p.S260S	PRKCG_ENST00000542049.1_Silent_p.S147S|PRKCG_ENST00000540413.1_Silent_p.S260S|PRKCG_ENST00000536044.1_Silent_p.S260S	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	260	C2.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		GGGCCATGTCCTTTGGCGTCT	0.647000													12	24					0	0	0.000151284	0	0
GSPT2	23708	broad.mit.edu	37	X	51487254	51487254	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:51487254G>A	ENST00000340438.4	+	1	774	c.532G>A	c.(532-534)Gaa>Aaa	p.E178K		NM_018094.4	NP_060564.2	Q8IYD1	ERF3B_HUMAN	G1 to S phase transition 2	178					cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination	cytoplasm	GTP binding|GTPase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Ovarian(276;0.236)					AAGTGGCCAGGAAATGATGGA	0.478000													4	19					0	0	0.000602214	0	0
RYR1	6261	broad.mit.edu	37	19	38966067	38966067	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:38966067G>A	ENST00000355481.4	+	29	4401	c.4270G>A	c.(4270-4272)Gag>Aag	p.E1424K	RYR1_ENST00000359596.3_Missense_Mutation_p.E1424K|RYR1_ENST00000360985.3_Missense_Mutation_p.E1424K	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1424	6 X approximate repeats.|B30.2/SPRY 3.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CGATGACCCCGAGATCATCCT	0.597000													8	18					0	0	0.000157383	0	0
ZNF90	7643	broad.mit.edu	37	19	20229372	20229372	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:20229372G>A	ENST00000418063.2	+	4	1121	c.1009G>A	c.(1009-1011)Gga>Aga	p.G337R	ZNF90_ENST00000474284.1_Intron	NM_007138.1	NP_009069.1	Q03938	ZNF90_HUMAN	zinc finger protein 90	337						Golgi apparatus|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|lung(2)|ovary(1)|skin(1)	5						AATCCATACTGGAGAGAAACC	0.413000													4	10					0	0	0.00024832	0	0
APOBR	55911	broad.mit.edu	37	16	28509439	28509439	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr16:28509439C>T	ENST00000564831.1	+	3	3026	c.2993C>T	c.(2992-2994)cCa>cTa	p.P998L	APOBR_ENST00000328423.5_Missense_Mutation_p.P989L|APOBR_ENST00000431282.1_Missense_Mutation_p.P989L	NM_018690.3	NP_061160.3	Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	989					cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						GTCTCTGTCCCAAGGAGTCGC	0.687000													6	18					0	0	0.00116845	0	0
OR8B2	26595	broad.mit.edu	37	11	124253229	124253229	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr11:124253229C>T	ENST00000375013.2	-	1	29	c.11G>A	c.(10-12)aGa>aAa	p.R4K		NM_001005468.1	NP_001005468.1	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B, member 2	4					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		GGAGTTGTTTCTAGCCAGCAT	0.368000													19	16					0	0	0.00074312	0	0
SUN1	23353	broad.mit.edu	37	7	872193	872193	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr7:872193C>T	ENST00000456758.2	+	4	206	c.206C>T	c.(205-207)cCt>cTt	p.P69L	SUN1_ENST00000401592.1_Missense_Mutation_p.P11L|SUN1_ENST00000403868.1_Missense_Mutation_p.P11L|SUN1_ENST00000389574.3_Intron|SUN1_ENST00000405266.1_Missense_Mutation_p.P11L|SUN1_ENST00000457378.2_Missense_Mutation_p.P32L|SUN1_ENST00000452783.2_Missense_Mutation_p.P11L|SUN1_ENST00000425407.2_5'UTR			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	11	LMNA-binding.				cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ATGTACAGTCCTCCCCAGTGT	0.552000													9	8					0	0	0.000442599	0	0
ATP2B3	492	broad.mit.edu	37	X	152835063	152835063	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:152835063G>A	ENST00000370186.1	+	20	3629	c.3303G>A	c.(3301-3303)atG>atA	p.M1101I	ATP2B3_ENST00000359149.3_Missense_Mutation_p.M1115I|ATP2B3_ENST00000393842.1_Missense_Mutation_p.M1101I|ATP2B3_ENST00000263519.4_Intron|ATP2B3_ENST00000370181.2_Missense_Mutation_p.M1101I|ATP2B3_ENST00000349466.2_Intron			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	1115	Calmodulin-binding subdomain A (By similarity).				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCCCACAGATGGAGGTAGTGA	0.552000													35	92					0	0	0.00111076	0	0
STAMBPL1	57559	broad.mit.edu	37	10	90733018	90733018	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr10:90733018G>A	ENST00000371927.3	+	11	2292	c.1334G>A	c.(1333-1335)gGa>gAa	p.G445E	ACTA2_ENST00000458208.1_Intron			Q96FJ0	STALP_HUMAN	STAM binding protein-like 1	0							metal ion binding|metallopeptidase activity|protein binding			breast(2)|endometrium(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(1)	11		Colorectal(252;0.0381)		Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05)		GGACCAAATGGATTCCCACTC	0.433000													26	18					0	0	0.000586117	0	0
RERE	473	broad.mit.edu	37	1	8716118	8716118	+	Missense_Mutation	SNP	G	G	A	rs139888880	byFrequency	TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:8716118G>A	ENST00000337907.3	-	3	873	c.239C>T	c.(238-240)cCg>cTg	p.P80L	RERE_ENST00000400908.2_Missense_Mutation_p.P80L|RERE_ENST00000400907.2_Missense_Mutation_p.P80L	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	80					multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P80Q(1)		central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		CTTTTTTTTCGGTGGTTTCTT	0.443000													90	162					0	0	0.000781405	0	0
DNAH6	1768	broad.mit.edu	37	2	84780120	84780120	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:84780120C>T	ENST00000389394.3	+	10	1701	c.1564C>T	c.(1564-1566)Cag>Tag	p.Q522*	DNAH6_ENST00000398278.2_Nonsense_Mutation_p.Q522*|DNAH6_ENST00000237449.6_Nonsense_Mutation_p.Q522*	NM_001370.1	NP_001361.1	Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	522	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						GTTGACAGTCCAGTCACTGCT	0.408000													46	73					0	0	0.000781405	0	0
MUC16	94025	broad.mit.edu	37	19	9048845	9048845	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:9048845C>T	ENST00000397910.4	-	5	32989	c.32786G>A	c.(32785-32787)gGg>gAg	p.G10929E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10931	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						TCCTGGTACCCCAGGTGAAAC	0.493000													27	46					0	0	0.000720815	0	0
ZNF816	125893	broad.mit.edu	37	19	53454809	53454809	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:53454809G>A	ENST00000357666.4	-	5	519	c.219C>T	c.(217-219)ttC>ttT	p.F73F	ZNF816_ENST00000444460.2_Silent_p.F73F|ZNF816_ENST00000434371.2_Intron|ZNF321P_ENST00000391777.3_Intron|ZNF816_ENST00000391786.2_3'UTR	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	73	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						TGGTTGATGAGAACTCCATCA	0.353000													36	52					0	0	0.00128727	0	0
SFTPD	6441	broad.mit.edu	37	10	81701826	81701826	+	Splice_Site	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr10:81701826C>T	ENST00000372292.3	-	5	474	c.433_splice	c.e5-1	p.G145_splice		NM_003019.4	NP_003010.4	P35247	SFTPD_HUMAN	surfactant protein D	145	Collagen-like.				cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of interleukin-2 biosynthetic process|negative regulation of T cell proliferation|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis	collagen|endocytic vesicle|extracellular space|lysosome	bacterial cell surface binding|protein binding|sugar binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1)	17	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)			ACCTACTTCTCCTGAAGAAGG	0.577000													22	17					0	0	0.000586117	0	0
SMAD9	4093	broad.mit.edu	37	13	37453563	37453563	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr13:37453563G>A	ENST00000379826.4	-	2	606	c.264C>T	c.(262-264)ccC>ccT	p.P88P	SMAD9_ENST00000350148.5_Silent_p.P88P|SMAD9_ENST00000399275.2_Silent_p.P88P	NM_001127217.2	NP_001120689.1	O15198	SMAD9_HUMAN	SMAD family member 9	88	MH1.				BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		AAATCACATGGGGCAGGCCCT	0.652000													11	17					0	0	0.00136819	0	0
CATSPERB	79820	broad.mit.edu	37	14	92053616	92053616	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr14:92053616G>A	ENST00000256343.3	-	26	3218	c.3062C>T	c.(3061-3063)tCt>tTt	p.S1021F		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	1021					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				GAAAAGTTCAGAGCCCTGTGG	0.398000													24	24					0	0	0.000339439	0	0
ABCC12	94160	broad.mit.edu	37	16	48142409	48142409	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr16:48142409G>A	ENST00000311303.3	-	17	2658	c.2313C>T	c.(2311-2313)tcC>tcT	p.S771S	ABCC12_ENST00000448542.1_Silent_p.S768S|ABCC12_ENST00000416054.1_3'UTR	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	771						integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				CTTCCTGGGGGGATTCAGTCT	0.502000													43	50					0	0	0.000781405	0	0
TRIM54	57159	broad.mit.edu	37	2	27521592	27521592	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:27521592A>G	ENST00000296098.4	+	2	596	c.326A>G	c.(325-327)aAg>aGg	p.K109R	TRIM54_ENST00000380075.2_Missense_Mutation_p.K109R	NM_032546.3	NP_115935.3	Q9BYV2	TRI54_HUMAN	tripartite motif containing 54	109					cell differentiation|microtubule-based process|multicellular organismal development|negative regulation of microtubule depolymerization	microtubule|sarcomere	signal transducer activity|zinc ion binding			cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GACATTTACAAGCAGGAGTCA	0.547000													12	18					0	0	0.000308642	0	0
ALS2CR12	130540	broad.mit.edu	37	2	202215474	202215474	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:202215474G>A	ENST00000405148.2	-	3	588	c.145C>T	c.(145-147)Cac>Tac	p.H49Y	ALS2CR12_ENST00000439709.1_Missense_Mutation_p.H49Y|ALS2CR12_ENST00000392257.3_Missense_Mutation_p.H49Y|ALS2CR12_ENST00000448967.1_5'UTR|ALS2CR12_ENST00000286190.5_Missense_Mutation_p.H49Y	NM_139163.2	NP_631902.2	Q96Q35	AL2SB_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12	49					regulation of GTPase activity		protein binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)	21						AGGTAATTGTGATTTTTTGGA	0.378000													15	23					0	0	0.00121646	0	0
AGTR1	185	broad.mit.edu	37	3	148459572	148459572	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:148459572C>T	ENST00000542281.1	+	4	1196	c.750C>T	c.(748-750)ttC>ttT	p.F250F	AGTR1_ENST00000349243.3_Silent_p.F250F|AGTR1_ENST00000404754.2_Silent_p.F250F|AGTR1_ENST00000475347.1_Silent_p.F250F|AGTR1_ENST00000418473.2_Silent_p.F250F|AGTR1_ENST00000474935.1_Silent_p.F250F|AGTR1_ENST00000402260.1_Silent_p.F250F|AGTR1_ENST00000497524.1_Silent_p.F250F|AGTR1_ENST00000461609.1_Silent_p.F250F	NM_031850.3	NP_114038.4	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	250					calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	TTTTCTTTTTCTTTTCCTGGA	0.353000													32	37					0	0	0.000409698	0	0
PLEKHA5	54477	broad.mit.edu	37	12	19418704	19418704	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:19418704C>T	ENST00000538714.1	+	8	635	c.631C>T	c.(631-633)Ctg>Ttg	p.L211L	PLEKHA5_ENST00000510738.2_3'UTR|PLEKHA5_ENST00000429027.2_Silent_p.L211L|PLEKHA5_ENST00000543806.1_Silent_p.L103L|PLEKHA5_ENST00000539256.1_5'UTR|PLEKHA5_ENST00000424268.1_Silent_p.L103L|PLEKHA5_ENST00000299275.6_Silent_p.L211L|PLEKHA5_ENST00000309364.4_Silent_p.L211L|PLEKHA5_ENST00000317589.4_Silent_p.L211L|PLEKHA5_ENST00000359180.3_Silent_p.L211L|PLEKHA5_ENST00000355397.3_Silent_p.L211L	NM_001143821.2	NP_001137293.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	211	PH.						1-phosphatidylinositol binding|protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					AGAGGGTATCCTGGGAAGCAT	0.313000													37	87					0	0	0.00170553	0	0
ZNF676	163223	broad.mit.edu	37	19	22364141	22364141	+	Silent	SNP	T	T	C			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:22364141T>C	ENST00000397121.2	-	3	695	c.378A>G	c.(376-378)tcA>tcG	p.S126S		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	126					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TGTTTGAATTTGAACATTTAT	0.328000													54	74					0	0	0.000781405	0	0
LRRC28	123355	broad.mit.edu	37	15	99892588	99892588	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr15:99892588C>T	ENST00000301981.3	+	7	847	c.607C>T	c.(607-609)Cga>Tga	p.R203*	LRRC28_ENST00000331450.5_Intron|LRRC28_ENST00000442993.2_3'UTR|LRRC28_ENST00000422500.2_Nonsense_Mutation_p.R134*|LRRC28_ENST00000447360.2_Nonsense_Mutation_p.R203*|LRRC28_ENST00000558879.1_Intron	NM_144598.2	NP_653199.2	Q86X40	LRC28_HUMAN	leucine rich repeat containing 28	203										endometrium(2)|large_intestine(3)|lung(6)|prostate(1)	12	Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00106)			AGGTCGATCTCGAGAACTACA	0.353000													62	78					0	0	0.000781405	0	0
GABRG2	2566	broad.mit.edu	37	5	161580099	161580099	+	Splice_Site	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:161580099G>A	ENST00000356592.3	+	10	1613	c.1152_splice	c.e10-1	p.A385_splice	GABRG2_ENST00000393933.4_Splice_Site_p.A282_splice|GABRG2_ENST00000361925.4_Splice_Site_p.A377_splice|GABRG2_ENST00000414552.2_Splice_Site_p.A425_splice	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	377				Missing (in Ref. 4; no nucleotide entry).	gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		CTCGTCCCAGGCCCCTACCAT	0.458000													18	38					0	0	0.000958276	0	0
SHROOM4	57477	broad.mit.edu	37	X	50376392	50376392	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:50376392C>T	ENST00000376020.2	-	4	2706	c.2681G>A	c.(2680-2682)gGa>gAa	p.G894E	SHROOM4_ENST00000289292.7_Missense_Mutation_p.G894E|SHROOM4_ENST00000460112.3_Missense_Mutation_p.G778E	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	894	Cys-rich.				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					GACTAGAGCTCCTTGAACACT	0.448000													17	28					0	0	0.000422831	0	0
LOC101928215	101928215	broad.mit.edu	37	16	29115586	29115586	+	RNA	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr16:29115586C>T	ENST00000562618.1	-	0	1231				RRN3P2_ENST00000564580.1_RNA																							gggtgtaatccccacactgta	0.483000													3	7					0	0	6.4e-05	0	0
EHD2	30846	broad.mit.edu	37	19	48244619	48244619	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:48244619G>A	ENST00000263277.3	+	6	1813	c.1562G>A	c.(1561-1563)gGg>gAg	p.G521E	EHD2_ENST00000540884.1_3'UTR|EHD2_ENST00000538399.1_Missense_Mutation_p.G385E	NM_014601.3	NP_055416.2	Q9NZN4	EHD2_HUMAN	EH-domain containing 2	521	EH.				blood coagulation|endocytic recycling	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding			endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	19		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)		GAAGGCCACGGGCTGCCCGCC	0.697000													5	10					0	0	0.000602214	0	0
COL7A1	1294	broad.mit.edu	37	3	48624701	48624701	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:48624701C>T	ENST00000328333.8	-	23	3168	c.3061G>A	c.(3061-3063)Ggc>Agc	p.G1021S	COL7A1_ENST00000454817.1_Missense_Mutation_p.G1021S	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1021	Fibronectin type-III 9.|Nonhelical region (NC1).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TAAGAGACGCCAGGCTCTAGC	0.577000													11	10					0	0	0.000673444	0	0
MCU	90550	broad.mit.edu	37	10	74619034	74619034	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr10:74619034C>T	ENST00000536019.1	+	3	618	c.173C>T	c.(172-174)tCt>tTt	p.S58F	MCU_ENST00000373053.3_Missense_Mutation_p.S107F|MCU_ENST00000357157.6_Missense_Mutation_p.S107F	NM_001270680.1	NP_001257609.1	Q8NE86	MCU_HUMAN	mitochondrial calcium uniporter	107					elevation of mitochondrial calcium ion concentration|mitochondrial calcium ion transport|protein complex oligomerization	integral to membrane|mitochondrial inner membrane	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	14						ATCTCTGACTCTGTTGGTGTA	0.428000													27	25					0	0	0.00127121	0	0
RCAN1	1827	broad.mit.edu	37	21	35893825	35893825	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr21:35893825G>A	ENST00000481448.1	-	4	1014	c.528C>T	c.(526-528)ctC>ctT	p.L176L	RCAN1_ENST00000489903.1_5'UTR|RCAN1_ENST00000443408.2_Silent_p.L51L|RCAN1_ENST00000487990.1_Silent_p.L51L|RCAN1_ENST00000482533.1_Silent_p.L51L|RCAN1_ENST00000313806.4_Silent_p.L186L|RCAN1_ENST00000381132.2_Silent_p.L131L|RCAN1_ENST00000399272.1_Silent_p.L105L|RCAN1_ENST00000381135.3_Silent_p.L176L			P53805	RCAN1_HUMAN	regulator of calcineurin 1	186					blood circulation|calcium-mediated signaling|central nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|kidney(1)|large_intestine(1)|lung(2)	5						TGGCATATAAGAGATCATAGT	0.597000													160	227					0	0	0.000781405	0	0
SLC27A5	10998	broad.mit.edu	37	19	59010865	59010865	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:59010865G>A	ENST00000263093.2	-	7	1770	c.1661C>T	c.(1660-1662)aCc>aTc	p.T554I	SLC27A5_ENST00000601355.1_Missense_Mutation_p.T470I	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	554					bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity	p.T554I(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		GGACCGGAAGGTGTCCCCGAG	0.657000													19	25					0	0	0.000375601	0	0
TMEM108	66000	broad.mit.edu	37	3	133099320	133099320	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:133099320G>A	ENST00000515826.1	+	3	888	c.765G>A	c.(763-765)gcG>gcA	p.A255A	TMEM108_ENST00000321871.6_Silent_p.A255A|TMEM108_ENST00000393130.3_Silent_p.A255A|TMEM108_ENST00000508711.1_Intron			Q6UXF1	TM108_HUMAN	transmembrane protein 108	255						integral to membrane				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						CAGTGGCTGCGACCACAGTGC	0.647000													9	23					0	0	0.000442599	0	0
ABRA	137735	broad.mit.edu	37	8	107773671	107773671	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr8:107773671C>T	ENST00000311955.3	-	2	794	c.740G>A	c.(739-741)gGg>gAg	p.G247E		NM_139166.4	NP_631905.1	Q8N0Z2	ABRA_HUMAN	actin-binding Rho activating protein	247	Interaction with actin (By similarity).				positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding			breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			CTGCCATCTCCCTTTCAAGTT	0.468000													34	57					0	0	0.00058488	0	0
C5orf49	134121	broad.mit.edu	37	5	7835598	7835598	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:7835598G>A	ENST00000399810.2	-	2	629	c.161C>T	c.(160-162)tCc>tTc	p.S54F	C5orf49_ENST00000509627.1_Missense_Mutation_p.S54F	NM_001089584.2	NP_001083053.1	A4QMS7	CE049_HUMAN	chromosome 5 open reading frame 49	54										large_intestine(3)|lung(5)|skin(1)	9						ATCATAGAGGGAAATAATTCC	0.428000													23	35					0	0	0.000586117	0	0
MYH6	4624	broad.mit.edu	37	14	23865960	23865960	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr14:23865960C>T	ENST00000405093.3	-	19	2305	c.2235G>A	c.(2233-2235)gaG>gaA	p.E745E	MYH6_ENST00000356287.3_Silent_p.E745E	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	745	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TGAGCAGCTTCTCTGTCCCCT	0.562000													23	35					0	0	0.000720815	0	0
MAP3K19	80122	broad.mit.edu	37	2	135779399	135779399	+	Splice_Site	SNP	T	T	G			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:135779399T>G	ENST00000375845.3	-	2	54	c.22_splice	c.e2-1	p.E8_splice	MAP3K19_ENST00000392918.3_Splice_Site_p.E8_splice|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000358371.4_Splice_Site_p.E8_splice|MAP3K19_ENST00000392917.3_Splice_Site_p.E8_splice|MAP3K19_ENST00000392915.1_Splice_Site_p.E25_splice|MAP3K19_ENST00000375844.3_Splice_Site_p.E8_splice	NM_025052.3	NP_079328.3			mitogen-activated protein kinase kinase kinase 19																		CAGCATGTCTTTCTATCAAAA	0.328000													22	49					0	0	0.000229342	0	0
ZNF473	25888	broad.mit.edu	37	19	50550097	50550097	+	Silent	SNP	A	A	G			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:50550097A>G	ENST00000595661.1	+	6	2892	c.2397A>G	c.(2395-2397)gcA>gcG	p.A799A	ZNF473_ENST00000270617.3_Silent_p.A799A|ZNF473_ENST00000445728.3_Silent_p.A787A|ZNF473_ENST00000391821.2_Silent_p.A799A|ZNF473_ENST00000601364.1_Intron|CTD-2126E3.3_ENST00000599914.1_RNA|CTD-2126E3.3_ENST00000599410.1_RNA			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	799					histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		CCCAGAAAGCAAATCTAACAC	0.507000											OREG0025632	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	32					0	0	0.000151284	0	0
SLC7A3	84889	broad.mit.edu	37	X	70148084	70148084	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:70148084C>T	ENST00000374299.3	-	5	875	c.731G>A	c.(730-732)gGa>gAa	p.G244E	SLC7A3_ENST00000298085.4_Missense_Mutation_p.G244E			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	244					cellular nitrogen compound metabolic process	integral to membrane|plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	AGGCACAAATCCTCCAGAGCC	0.493000													6	15					0	0	0.000157383	0	0
ZNF831	128611	broad.mit.edu	37	20	57829535	57829535	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr20:57829535C>T	ENST00000371030.2	+	5	4771	c.4771C>T	c.(4771-4773)Cct>Tct	p.P1591S		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1591						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GACGTTTTTTCCTTCCAGAGG	0.478000													38	45					0	0	0.00111076	0	0
ELN	2006	broad.mit.edu	37	7	73474215	73474215	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr7:73474215G>T	ENST00000358929.4	+	24	1610	c.1519G>T	c.(1519-1521)Ggg>Tgg	p.G507W	ELN_ENST00000320399.6_Splice_Site|CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000380562.4_Missense_Mutation_p.G478W|ELN_ENST00000414324.1_Splice_Site|ELN_ENST00000252034.7_Splice_Site|ELN_ENST00000380575.4_Splice_Site|ELN_ENST00000380576.5_Splice_Site|ELN_ENST00000320492.7_Splice_Site|ELN_ENST00000357036.5_Splice_Site|ELN_ENST00000458204.1_Splice_Site|ELN_ENST00000429192.1_Splice_Site|ELN_ENST00000445912.1_Splice_Site|ELN_ENST00000380584.4_Splice_Site|ELN_ENST00000380553.4_Splice_Site			P15502	ELN_HUMAN	elastin	501	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)	CAATCTTGCAGGGTTAGTTCC	0.567000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""						9	319					0.000442599	0.00247909	0.000442599	1	0
AMER3	205147	broad.mit.edu	37	2	131519914	131519914	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:131519914G>A	ENST00000423981.1	+	2	379	c.269G>A	c.(268-270)cGa>cAa	p.R90Q	AMER3_ENST00000321420.4_Missense_Mutation_p.R90Q	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2			APC membrane recruitment protein 3																		AAACCGGTGCGAAAGTGCAAG	0.662000													5	13					0	0	0.000602214	0	0
LPHN2	23266	broad.mit.edu	37	1	82408771	82408771	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:82408771C>T	ENST00000370728.1	+	8	1161	c.516C>T	c.(514-516)ttC>ttT	p.F172F	LPHN2_ENST00000319517.6_Silent_p.F172F|LPHN2_ENST00000370721.1_Silent_p.F176F|LPHN2_ENST00000359929.3_Silent_p.F172F|LPHN2_ENST00000370723.1_Silent_p.F172F|LPHN2_ENST00000370725.1_Silent_p.F172F|LPHN2_ENST00000370715.1_Silent_p.F172F|LPHN2_ENST00000370727.1_Silent_p.F172F|LPHN2_ENST00000370713.1_Silent_p.F172F|LPHN2_ENST00000370730.1_Silent_p.F172F|LPHN2_ENST00000271029.4_Silent_p.F172F|LPHN2_ENST00000335786.5_Silent_p.F172F|LPHN2_ENST00000370717.2_Silent_p.F172F|LPHN2_ENST00000394879.1_Silent_p.F172F|LPHN2_ENST00000469377.2_Intron			O95490	LPHN2_HUMAN	latrophilin 2	172	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		AAATTTATTTCATGCCCTGGA	0.398000													25	34					0	0	0.000375601	0	0
NLRP13	126204	broad.mit.edu	37	19	56419288	56419288	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:56419288C>T	ENST00000588751.1	-	7	2341	c.2317G>A	c.(2317-2319)Gac>Aac	p.D773N	NLRP13_ENST00000342929.3_Missense_Mutation_p.D773N			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	773							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		ATAATGAGGTCCTGCAGAACC	0.512000													33	61					0	0	0.000953801	0	0
PDZRN4	29951	broad.mit.edu	37	12	41967587	41967587	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:41967587A>T	ENST00000298919.7	+	10	2614	c.2226A>T	c.(2224-2226)aaA>aaT	p.K742N	PDZRN4_ENST00000402685.2_Missense_Mutation_p.K1002N|PDZRN4_ENST00000539469.2_Missense_Mutation_p.K744N			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	1002							ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				GAAACAAGAAAATTTTGGACA	0.463000													13	31					0	0	0.000151284	0	0
LRGUK	136332	broad.mit.edu	37	7	133943058	133943058	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr7:133943058C>T	ENST00000285928.2	+	19	2317	c.2248C>T	c.(2248-2250)Ccg>Tcg	p.P750S		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	750							ATP binding|kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						TCGGTTCTGTCCGTGGTCAAA	0.458000													66	59					0	0	0.000781405	0	0
MCTP2	55784	broad.mit.edu	37	15	94983482	94983482	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr15:94983482C>T	ENST00000357742.4	+	17	2163	c.2163C>T	c.(2161-2163)ttC>ttT	p.F721F	MCTP2_ENST00000451018.3_Intron	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	721					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)			TCTACAATTTCATCAGACCTG	0.403000													53	83					0	0	0.000781405	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110464981	110464981	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr8:110464981C>T	ENST00000378402.5	+	43	6646	c.6542C>T	c.(6541-6543)tCc>tTc	p.S2181F		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2181					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GATGCCTGGTCCTCCAATTTC	0.388000										HNSCC(38;0.096)			7	9					0	0	0.000274275	0	0
SP7	121340	broad.mit.edu	37	12	53722232	53722232	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:53722232C>T	ENST00000536324.2	-	3	1277	c.994G>A	c.(994-996)Ggc>Agc	p.G332S	SP7_ENST00000537210.2_Missense_Mutation_p.G314S|SP7_ENST00000303846.3_Missense_Mutation_p.G332S	NM_001173467.1	NP_001166938.1	Q8TDD2	SP7_HUMAN	Sp7 transcription factor	332					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	14						AACCTCTTGCCGCAGAAGAGC	0.617000													12	32					0	0	0.000151284	0	0
MYLK3	91807	broad.mit.edu	37	16	46774025	46774025	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr16:46774025G>A	ENST00000394809.4	-	2	627	c.512C>T	c.(511-513)cCa>cTa	p.P171L	MYLK3_ENST00000536476.1_5'UTR	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	171					cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				CACATGCTTTGGTTTTCCTCC	0.453000													50	63					0	0	0.000781405	0	0
ACKR3	57007	broad.mit.edu	37	2	237489792	237489792	+	Silent	SNP	C	C	T	rs143420114		TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:237489792C>T	ENST00000272928.3	+	2	994	c.684C>T	c.(682-684)atC>atT	p.I228I		NM_020311.2	NP_064707.1			atypical chemokine receptor 3																		TCTCCATTATCGCTGTCTTCT	0.577000													28	40					0	0	0.00106085	0	0
ANKRD20A11P	391267	broad.mit.edu	37	21	15352093	15352093	+	RNA	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr21:15352093C>T	ENST00000344693.5	-	0	665					NR_027270.1																						TCCGCGGCGTCGCCCTTGACA	0.667000													14	15					0	0	0.000422831	0	0
ZPBP	11055	broad.mit.edu	37	7	50070802	50070802	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr7:50070802A>T	ENST00000046087.2	-	5	661	c.592T>A	c.(592-594)Tta>Ata	p.L198I	ZPBP_ENST00000419417.1_Missense_Mutation_p.L197I|ZPBP_ENST00000491129.1_Intron	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein	198					binding of sperm to zona pellucida	extracellular region				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					AGTTTGCTTAAAATCTGAAGA	0.353000													47	96					0	0	0.000781405	0	0
MED12L	116931	broad.mit.edu	37	3	150911442	150911442	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:150911442C>T	ENST00000474524.1	+	14	2172	c.2134C>T	c.(2134-2136)Cct>Tct	p.P712S	MED12L_ENST00000273432.4_Missense_Mutation_p.P572S|MED12L_ENST00000422248.2_Missense_Mutation_p.P712S|MED12L_ENST00000309237.4_Missense_Mutation_p.P747S	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	712					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AACACATTTTCCTATACCTCT	0.338000													37	49					0	0	0.000374591	0	0
PTPN13	5783	broad.mit.edu	37	4	87724993	87724993	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr4:87724993C>T	ENST00000436978.1	+	43	7132	c.6652C>T	c.(6652-6654)Cct>Tct	p.P2218S	PTPN13_ENST00000511467.1_Missense_Mutation_p.P2218S|PTPN13_ENST00000411767.2_Missense_Mutation_p.P2213S|PTPN13_ENST00000316707.6_Missense_Mutation_p.P2022S|PTPN13_ENST00000427191.2_Missense_Mutation_p.P2194S	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	2213	Tyrosine-protein phosphatase.					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity	p.P2218T(1)		NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		TCAAGGAATTCCTTCTAAGGA	0.443000													44	21					0	0	0.000781405	0	0
C5AR1	728	broad.mit.edu	37	19	47823574	47823574	+	Missense_Mutation	SNP	G	G	C			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:47823574G>C	ENST00000355085.3	+	2	562	c.540G>C	c.(538-540)gaG>gaC	p.E180D		NM_001736.3	NP_001727.1	P21730	C5AR_HUMAN	complement component 5a receptor 1	180					activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus	integral to plasma membrane	C5a anaphylatoxin receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)	20		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)		TCCGGGAGGAGTACTTTCCAC	0.647000													46	79					0	0	0.000781405	0	0
RASEF	158158	broad.mit.edu	37	9	85640753	85640753	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr9:85640753T>C	ENST00000376447.3	-	2	775	c.515A>G	c.(514-516)aAc>aGc	p.N172S		NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	172					protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						ACGGATGAAGTTCTTTATAAC	0.393000													57	37					0	0	0.000781405	0	0
NPHP4	261734	broad.mit.edu	37	1	5964795	5964795	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:5964795G>A	ENST00000378156.4	-	16	2290	c.2025C>T	c.(2023-2025)ttC>ttT	p.F675F	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	675					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		TTGCGGGTGGGAAGCGGTAGA	0.597000													30	52					0	0	0.000953801	0	0
RFTN1	23180	broad.mit.edu	37	3	16411787	16411787	+	Splice_Site	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:16411787C>T	ENST00000334133.4	-	6	1099		c.e6-1		RFTN1_ENST00000483671.1_Splice_Site|RFTN1_ENST00000432519.1_Splice_Site	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1							plasma membrane				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						ATCTCCATTTCTGTTGGGATT	0.448000													73	45					0	0	0.000781405	0	0
DNAH2	146754	broad.mit.edu	37	17	7668873	7668873	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr17:7668873C>T	ENST00000572933.1	+	21	4961	c.3501C>T	c.(3499-3501)ttC>ttT	p.F1167F	DNAH2_ENST00000389173.2_Silent_p.F1167F			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1167	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TGGAAGATTTCGAATTCAAAG	0.483000													21	41					0	0	0.00047179	0	0
MCF2L	23263	broad.mit.edu	37	13	113714954	113714954	+	Silent	SNP	G	G	A	rs141848502		TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr13:113714954G>A	ENST00000397030.1	+	5	553	c.516G>A	c.(514-516)acG>acA	p.T172T	MCF2L_ENST00000375597.4_Silent_p.T137T|MCF2L_ENST00000423482.2_Silent_p.T137T|MCF2L_ENST00000442652.2_Silent_p.T169T|MCF2L_ENST00000375604.2_Silent_p.T196T|MCF2L_ENST00000535094.2_Silent_p.T139T|MCF2L_ENST00000434480.2_Silent_p.T145T|MCF2L_ENST00000375608.3_Silent_p.T169T|MCF2L_ENST00000421756.1_Silent_p.T143T|MCF2L_ENST00000375601.3_Silent_p.T143T			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	169	CRAL-TRIO.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	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_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				TTCGCCCGACGGGTTTTTTCC	0.572000													18	9					0	0	0.000958276	0	0
CCR3	1232	broad.mit.edu	37	3	46307148	46307148	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:46307148C>T	ENST00000357422.2	+	4	1042	c.499C>T	c.(499-501)Cct>Tct	p.P167S	CCR3_ENST00000395942.2_Missense_Mutation_p.P167S|CCR3_ENST00000395940.2_Missense_Mutation_p.P167S|CCR3_ENST00000545097.1_Missense_Mutation_p.P188S|CCR3_ENST00000541018.1_Missense_Mutation_p.P167S			P51677	CCR3_HUMAN	chemokine (C-C motif) receptor 3	167					cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis	integral to plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		AGCAGCTCTTCCTGAATTTAT	0.498000													29	45					0	0	0.00127121	0	0
FAM83B	222584	broad.mit.edu	37	6	54804969	54804969	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:54804969C>T	ENST00000306858.7	+	5	1316	c.1200C>T	c.(1198-1200)ctC>ctT	p.L400L		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	400										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TGCCATACCTCCTGCTTAATA	0.443000													35	51					0	0	0.00128727	0	0
RNF40	9810	broad.mit.edu	37	16	30777523	30777523	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr16:30777523C>T	ENST00000324685.6	+	9	1468	c.1033C>T	c.(1033-1035)Ctg>Ttg	p.L345L	RNF40_ENST00000402121.3_Intron|RNF40_ENST00000357890.5_Intron|RNF40_ENST00000563683.1_Intron	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586.1	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	345					histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			AAACCAGGAACTGGCCAACAG	0.602000													26	59					0	0	0.000586117	0	0
HDAC9	9734	broad.mit.edu	37	7	18705909	18705909	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr7:18705909G>A	ENST00000406451.3	+	12	1682	c.1532G>A	c.(1531-1533)gGg>gAg	p.G511E	HDAC9_ENST00000417496.2_Missense_Mutation_p.G509E|HDAC9_ENST00000428307.2_Missense_Mutation_p.G467E|HDAC9_ENST00000405010.3_Missense_Mutation_p.G511E|HDAC9_ENST00000406072.1_Missense_Mutation_p.G498E|HDAC9_ENST00000401921.1_Missense_Mutation_p.G470E|HDAC9_ENST00000524023.1_Missense_Mutation_p.G434E|HDAC9_ENST00000432645.2_Missense_Mutation_p.G511E|HDAC9_ENST00000441542.2_Missense_Mutation_p.G514E|HDAC9_ENST00000456174.2_Missense_Mutation_p.G483E	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	511					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	GAGCTTCAGGGGGACCAGGCG	0.532000											OREG0017877	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	31	100					0	0	0.000409698	0	0
PLEC	5339	broad.mit.edu	37	8	145001455	145001455	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr8:145001455G>A	ENST00000322810.4	-	28	4385	c.4216C>T	c.(4216-4218)Cag>Tag	p.Q1406*	PLEC_ENST00000354589.3_Nonsense_Mutation_p.Q1269*|PLEC_ENST00000436759.2_Nonsense_Mutation_p.Q1296*|PLEC_ENST00000356346.3_Nonsense_Mutation_p.Q1255*|PLEC_ENST00000345136.3_Nonsense_Mutation_p.Q1269*|PLEC_ENST00000357649.2_Nonsense_Mutation_p.Q1273*|PLEC_ENST00000354958.2_Nonsense_Mutation_p.Q1247*|PLEC_ENST00000527096.1_Nonsense_Mutation_p.Q1292*|PLEC_ENST00000398774.2_Nonsense_Mutation_p.Q1237*	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1406	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCAAACCTCTGGCACTCCTCG	0.667000													35	78					0	0	0.00148497	0	0
ZNF708	7562	broad.mit.edu	37	19	21476864	21476864	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:21476864G>A	ENST00000356929.3	-	4	1101	c.904C>T	c.(904-906)Cat>Tat	p.H302Y		NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN	zinc finger protein 708	302					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H302Y(1)		breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						TCTCCAGTATGAATTTTCTTG	0.378000													12	21					0	0	0.000978159	0	0
PCDHGB4	8641	broad.mit.edu	37	5	140769813	140769813	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:140769813C>T	ENST00000519479.1	+	1	2362	c.2362C>T	c.(2362-2364)Cca>Tca	p.P788S	PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1														endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCCTTATTTCCACTTTGTAA	0.383000													46	118					0	0	0.000680045	0	0
CCDC144CP	348254	broad.mit.edu	37	17	20224893	20224893	+	RNA	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr17:20224893C>T	ENST00000580225.1	+	0	105				CCDC144CP_ENST00000340196.4_RNA																							ACAGAGCTGCCCGGTCGGGCG	0.622000													56	123					0	0	0.000781405	0	0
LPCAT2	54947	broad.mit.edu	37	16	55584910	55584910	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr16:55584910G>T	ENST00000262134.5	+	11	1295	c.1111G>T	c.(1111-1113)Gcg>Tcg	p.A371S		NM_017839.4	NP_060309.2	Q7L5N7	PCAT2_HUMAN	lysophosphatidylcholine acyltransferase 2	371					cellular membrane organization|platelet activating factor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|Golgi stack|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	12						TGCATCTATTGCGAGTTCCTC	0.348000													37	60					6.53348e-20	3.70714e-19	0.000692331	1	0
ALOX12B	242	broad.mit.edu	37	17	7989457	7989457	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr17:7989457A>T	ENST00000319144.4	-	2	489	c.229T>A	c.(229-231)Ttc>Atc	p.F77I		NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	77	PLAT.				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						TCCTTGGGGAAGAAGGCGTAC	0.592000										Multiple Myeloma(8;0.094)			12	27					0	0	0.000978159	0	0
ZNF578	147660	broad.mit.edu	37	19	53015010	53015010	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:53015010A>T	ENST00000421239.2	+	6	1620	c.1376A>T	c.(1375-1377)gAa>gTa	p.E459V	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	234					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		AAATGTGAAGAATGTGACAGA	0.383000													27	35					0	0	0.00106085	0	0
ZNF664	144348	broad.mit.edu	37	12	124497284	124497284	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:124497284C>T	ENST00000539644.1	+	6	2423	c.593C>T	c.(592-594)cCc>cTc	p.P198L	ZNF664_ENST00000337815.4_Missense_Mutation_p.P198L|RP11-522N14.1_ENST00000540762.1_RNA|ZNF664_ENST00000392404.3_Missense_Mutation_p.P198L|ZNF664_ENST00000538932.2_Missense_Mutation_p.P198L			Q8N3J9	ZN664_HUMAN	zinc finger protein 664	198				P -> H (in Ref. 4; AAH51696).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(5)|lung(6)|skin(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249)		GGAGAGAAACCCTATAGATGT	0.498000													23	37					0	0	0.000375601	0	0
SLC7A8	23428	broad.mit.edu	37	14	23635597	23635597	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr14:23635597T>C	ENST00000316902.7	-	2	1029	c.304A>G	c.(304-306)Aaa>Gaa	p.K102E	SLC7A8_ENST00000469263.1_Missense_Mutation_p.K102E	NM_012244.3	NP_036376.2	Q9UHI5	LAT2_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 8	102					blood coagulation|cellular amino acid metabolic process|leukocyte migration|metal ion homeostasis|response to toxin	basolateral plasma membrane|cytoplasm|integral to plasma membrane	neutral amino acid transmembrane transporter activity|organic cation transmembrane transporter activity|peptide antigen binding|protein binding|toxin transporter activity			autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1)	24	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.00809)	L-Alanine(DB00160)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)	CCTCCAGATTTGGGGATGGTG	0.542000													41	85					0	0	0.000589545	0	0
KMT2A	4297	broad.mit.edu	37	11	118375900	118375900	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr11:118375900C>T	ENST00000534358.1	+	27	9316	c.9293C>T	c.(9292-9294)cCa>cTa	p.P3098L	KMT2A_ENST00000354520.4_Missense_Mutation_p.P3057L|KMT2A_ENST00000389506.5_Missense_Mutation_p.P3095L	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A									p.P3095Q(1)									CAAACTCTTCCAAATGGAGTG	0.473000													45	23					0	0	0.000781405	0	0
EFTUD2	9343	broad.mit.edu	37	17	42934475	42934475	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr17:42934475G>A	ENST00000426333.2	-	20	2310	c.2013C>T	c.(2011-2013)tcC>tcT	p.S671S	EFTUD2_ENST00000402521.3_Silent_p.S636S|EFTUD2_ENST00000592576.1_Silent_p.S661S|EFTUD2_ENST00000591382.1_Silent_p.S671S	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	671						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				AGCACTTGAGGGAGGATGTTT	0.488000													36	44					0	0	0.000437636	0	0
LPAR4	2846	broad.mit.edu	37	X	78011169	78011169	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:78011169T>C	ENST00000435339.2	+	2	1208	c.803T>C	c.(802-804)gTc>gCc	p.V268A	LPAR4_ENST00000373301.2_Missense_Mutation_p.V268A	NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	268						integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						TACAACTCTGTCCTCTTCTTG	0.413000													17	25					0	0	0.000422831	0	0
LARP1	23367	broad.mit.edu	37	5	154190829	154190829	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:154190829C>T	ENST00000336314.4	+	17	2659	c.2635C>T	c.(2635-2637)Cga>Tga	p.R879*		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	956							protein binding|RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GTGCCTTTTTCGATACTACAG	0.443000													19	34					0	0	0.00121646	0	0
LRCH2	57631	broad.mit.edu	37	X	114422878	114422878	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:114422878G>A	ENST00000317135.8	-	2	435	c.405C>T	c.(403-405)ccC>ccT	p.P135P	LRCH2_ENST00000538422.1_Silent_p.P135P	NM_020871.3	NP_065922.3	Q5VUJ6	LRCH2_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 2	135										breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	19						ATGTTTCAAGGGGTGCAAATA	0.308000													15	17					0	0	0.000566183	0	0
KIAA1586	57691	broad.mit.edu	37	6	56919312	56919312	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:56919312G>A	ENST00000370733.4	+	4	2222	c.2015G>A	c.(2014-2016)cGg>cAg	p.R672Q	KIAA1586_ENST00000545356.1_Missense_Mutation_p.R645Q	NM_020931.2	NP_065982.1	Q9HCI6	K1586_HUMAN	KIAA1586	672							nucleic acid binding	p.R672L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)	18	Lung NSC(77;0.0969)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			AATGATTTTCGGGAATTTGTA	0.269000													9	27					0	0	0.000274275	0	0
DSC1	1823	broad.mit.edu	37	18	28728530	28728530	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr18:28728530C>T	ENST00000257197.3	-	6	964	c.703G>A	c.(703-705)Gat>Aat	p.D235N	RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257198.5_Missense_Mutation_p.D235N	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	235	Cadherin 1.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			TTATCATTATCATCTTCAATT	0.383000													38	50					0	0	0.000814825	0	0
JAKMIP2	9832	broad.mit.edu	37	5	147040616	147040616	+	Silent	SNP	G	G	A	rs149958309		TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:147040616G>A	ENST00000265272.5	-	3	989	c.522C>T	c.(520-522)atC>atT	p.I174I	JAKMIP2_ENST00000507386.1_Silent_p.I174I|JAKMIP2_ENST00000333010.6_Silent_p.I132I	NM_014790.3	NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	174						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TATCTGCTTGGATCATATTGC	0.522000													72	113					0	0	0.000781405	0	0
OR13C2	392376	broad.mit.edu	37	9	107367211	107367211	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr9:107367211C>T	ENST00000542196.1	-	1	740	c.698G>A	c.(697-699)gGg>gAg	p.G233E		NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C, member 2	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						TTTGCTTCTCCCCTCGGAAGA	0.413000													35	10					0	0	0.000814825	0	0
SUPT6H	6830	broad.mit.edu	37	17	27011697	27011697	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr17:27011697C>T	ENST00000314616.6	+	18	2606	c.2323C>T	c.(2323-2325)Caa>Taa	p.Q775*	SUPT6H_ENST00000347486.4_Nonsense_Mutation_p.Q775*	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	775					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					GGACGAGAACCAAGGGAAGGG	0.507000													25	43					0	0	0.000720815	0	0
EDAR	10913	broad.mit.edu	37	2	109546615	109546615	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:109546615C>T	ENST00000409271.1	-	4	578	c.135G>A	c.(133-135)caG>caA	p.Q45Q	EDAR_ENST00000376651.1_Silent_p.Q45Q|EDAR_ENST00000258443.2_Silent_p.Q45Q			Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	45					apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						GGGGGCACTCCTGGCACAGCC	0.637000													6	16					0	0	0.000157383	0	0
OASL	8638	broad.mit.edu	37	12	121469308	121469308	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:121469308G>A	ENST00000257570.5	-	3	864	c.594C>T	c.(592-594)ttC>ttT	p.F198F	OASL_ENST00000339275.5_Silent_p.F198F	NM_003733.3	NP_003724.1	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like	198					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GATGTTTCACGAAATTTCTCT	0.587000													108	198					0	0	0.000781405	0	0
PRAMEF12	390999	broad.mit.edu	37	1	12836088	12836088	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:12836088G>A	ENST00000357726.4	+	2	717	c.690G>A	c.(688-690)agG>agA	p.R230R		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	230										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GCCAGATGAGGAATCTCCGCA	0.522000													36	51					0	0	0.00148497	0	0
A2M	2	broad.mit.edu	37	12	9266120	9266120	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:9266120G>A	ENST00000318602.7	-	2	413	c.106C>T	c.(106-108)Ccc>Tcc	p.P36S		NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN	alpha-2-macroglobulin	36					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	AGCAGGGAGGGGACCAGAACC	0.493000													28	48					0	0	0.000491102	0	0
RYR3	6263	broad.mit.edu	37	15	33840366	33840366	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr15:33840366G>A	ENST00000389232.4	+	9	846	c.776G>A	c.(775-777)cGa>cAa	p.R259Q	RYR3_ENST00000415757.3_Missense_Mutation_p.R259Q	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	259	MIR 3.				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)		GCTGGGACTCGAGCCAGGTCT	0.512000													7	23					0	0	0.000157383	0	0
DNAH17	8632	broad.mit.edu	37	17	76449483	76449483	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr17:76449483C>T	ENST00000389840.5	-	65	10553	c.10429G>A	c.(10429-10431)Gaa>Aaa	p.E3477K	DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Missense_Mutation_p.E3486K					dynein, axonemal, heavy chain 17									p.E3486K(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TCCACGGTTTCGCCGATGTTC	0.562000													7	14					0	0	8.12818e-05	0	0
RFX4	5992	broad.mit.edu	37	12	107126816	107126816	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:107126816C>T	ENST00000392842.1	+	15	2000	c.1586C>T	c.(1585-1587)tCc>tTc	p.S529F	RP11-482D24.3_ENST00000552415.1_RNA|RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000229387.5_Missense_Mutation_p.S435F|RFX4_ENST00000357881.4_Missense_Mutation_p.S538F	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	529					transcription, DNA-dependent	nucleus	DNA binding			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						CCTCCCTCTTCCCCTGTTAGC	0.498000													41	63					0	0	0.000680045	0	0
DCAF16	54876	broad.mit.edu	37	4	17805353	17805353	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr4:17805353G>A	ENST00000382247.1	-	3	1472	c.412C>T	c.(412-414)Cat>Tat	p.H138Y	DCAF16_ENST00000536863.1_Missense_Mutation_p.H138Y	NM_017741.3	NP_060211.3	Q9NXF7	DCA16_HUMAN	DDB1 and CUL4 associated factor 16	138						CUL4 RING ubiquitin ligase complex				cervix(1)|endometrium(1)|lung(2)|ovary(1)	5						AGAGTGGCATGATCTCTAGAG	0.498000													69	177					0	0	0.000781405	0	0
IQCD	115811	broad.mit.edu	37	12	113645327	113645327	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:113645327G>A	ENST00000546692.1	-	2	1018	c.645C>T	c.(643-645)atC>atT	p.I215I	IQCD_ENST00000299732.2_Silent_p.I215I|IQCD_ENST00000416617.2_Silent_p.I215I			Q96DY2	IQCD_HUMAN	IQ motif containing D	215										endometrium(2)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						TCTGTCTACTGATATCCTGTA	0.398000													25	53					0	0	0.000586117	0	0
ATXN7L2	127002	broad.mit.edu	37	1	110029688	110029688	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:110029688C>T	ENST00000369870.3	+	4	373	c.358C>T	c.(358-360)Cct>Tct	p.P120S		NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	120										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		ACCTCCAGCCCCTGCCAGCTC	0.592000													84	150					0	0	0.000781405	0	0
RP11-407N17.3	0	broad.mit.edu	37	14	39717188	39717188	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr14:39717188C>T	ENST00000553728.1	+	4	1623	c.1410C>T	c.(1408-1410)ttC>ttT	p.F470F	MIA2_ENST00000280082.3_Silent_p.F470F|MIA2_ENST00000556784.1_Silent_p.F469F																							CTTGGAACTTCCAGAACATTC	0.318000													43	65					0	0	0.000781405	0	0
BRSK2	9024	broad.mit.edu	37	11	1432786	1432786	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr11:1432786C>T	ENST00000382179.1	+	1	405	c.152C>T	c.(151-153)cCc>cTc	p.P51L	BRSK2_ENST00000308230.5_Intron|BRSK2_ENST00000531197.1_Intron|BRSK2_ENST00000526678.1_Intron|BRSK2_ENST00000528841.1_Intron|BRSK2_ENST00000308219.9_Intron|BRSK2_ENST00000528710.1_Intron	NM_001256630.1	NP_001243559.1	Q8IWQ3	BRSK2_HUMAN	BR serine/threonine kinase 2	16	Protein kinase.				establishment of cell polarity|neuron differentiation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(1)|lung(5)	10		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)		GGCCACACTCCCGGCCCACAG	0.692000													6	3					0	0	0.00116845	0	0
KRT85	3891	broad.mit.edu	37	12	52760977	52760977	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:52760977G>A	ENST00000257901.3	-	1	288	c.213C>T	c.(211-213)ttC>ttT	p.F71F		NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	71	Head.				epidermis development	keratin filament	protein binding|structural molecule activity			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		AGCCGGCTCGGAAGCCACCTA	0.701000													11	21					0	0	0.000978159	0	0
OR2T4	127074	broad.mit.edu	37	1	248525707	248525707	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:248525707C>T	ENST00000366475.1	+	1	825	c.825C>T	c.(823-825)tcC>tcT	p.S275S		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	275					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCTGCTCCTCCCACCTGACTG	0.537000													41	116					0	0	0.000509022	0	0
CRB1	23418	broad.mit.edu	37	1	197390429	197390429	+	Translation_Start_Site	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:197390429G>A	ENST00000367397.1	+	0	472				CRB1_ENST00000538660.1_Missense_Mutation_p.D491N|CRB1_ENST00000544212.1_De_novo_Start_OutOfFrame|CRB1_ENST00000367399.2_Missense_Mutation_p.D379N|CRB1_ENST00000476483.1_3'UTR|CRB1_ENST00000367400.3_Missense_Mutation_p.D491N|CRB1_ENST00000543483.1_Missense_Mutation_p.D190N|CRB1_ENST00000535699.1_Missense_Mutation_p.D422N			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)						cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	p.D491N(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						ATTTGAGGGCGATGGCTTCCT	0.517000													21	40					0	0	0.00121646	0	0
TMEM35	59353	broad.mit.edu	37	X	100349720	100349720	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:100349720C>T	ENST00000372930.4	+	2	562	c.279C>T	c.(277-279)ttC>ttT	p.F93F	TMEM35_ENST00000478351.1_3'UTR	NM_021637.2	NP_067650.1	Q53FP2	TMM35_HUMAN	transmembrane protein 35	93						cytoplasmic membrane-bounded vesicle|integral to membrane|peroxisomal membrane				NS(1)|large_intestine(3)|liver(1)|skin(1)|urinary_tract(1)	7						CCAACTTCTTCCTACTGTTGC	0.537000													54	94					0	0	0.000781405	0	0
C12orf40	283461	broad.mit.edu	37	12	40114841	40114841	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:40114841G>A	ENST00000324616.5	+	13	1901	c.1747G>A	c.(1747-1749)Gat>Aat	p.D583N		NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	583										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						CAAAACCAATGATAACTGCGT	0.398000													23	39					0	0	0.000295444	0	0
HNF1B	6928	broad.mit.edu	37	17	36099441	36099441	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr17:36099441C>T	ENST00000225893.4	-	2	895	c.534G>A	c.(532-534)gaG>gaA	p.E178E	HNF1B_ENST00000427275.2_Silent_p.E178E|HNF1B_ENST00000561193.1_Silent_p.E178E|HNF1B_ENST00000560016.1_Silent_p.E178E	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	178					endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			GTCGGAGGATCTCTCGTTGCT	0.542000													124	171					0	0	0.000781405	0	0
OR1G1	8390	broad.mit.edu	37	17	3030567	3030567	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr17:3030567G>A	ENST00000328890.2	-	1	308	c.279C>T	c.(277-279)tcC>tcT	p.S93S		NM_003555.1	NP_003546.1	P47890	OR1G1_HUMAN	olfactory receptor, family 1, subfamily G, member 1	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(3)|skin(3)	11						ACCCTGAGTAGGAGATGGCCT	0.483000													21	37					0	0	0.000229342	0	0
PCDHB1	29930	broad.mit.edu	37	5	140432091	140432091	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:140432091G>A	ENST00000306549.3	+	1	1113	c.1036G>A	c.(1036-1038)Gaa>Aaa	p.E346K		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		346	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAATCCTCCCGAAGTGATGGT	0.517000													23	41					0	0	0.000295444	0	0
KIAA0226	9711	broad.mit.edu	37	3	197403774	197403774	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:197403774G>A	ENST00000273582.5	-	19	3038	c.2493C>T	c.(2491-2493)acC>acT	p.T831T	KIAA0226_ENST00000296343.5_Silent_p.T876T|KIAA0226_ENST00000389665.5_Silent_p.T901T	NM_001145642.2	NP_001139114.1	Q92622	RUBIC_HUMAN	KIAA0226	876					autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding			NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		TCTCCACATGGGTAGCCCCTG	0.597000													15	33					0	0	0.00121646	0	0
ANK3	288	broad.mit.edu	37	10	61965560	61965560	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr10:61965560G>A	ENST00000280772.1	-	11	1474	c.1283C>T	c.(1282-1284)gCt>gTt	p.A428V	ANK3_ENST00000503366.1_Missense_Mutation_p.A411V|ANK3_ENST00000373827.2_Missense_Mutation_p.A422V	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	428					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CTCGGTTACAGCTTGGATGGA	0.488000													15	10					0	0	0.000958276	0	0
COL5A2	1290	broad.mit.edu	37	2	189943830	189943830	+	Missense_Mutation	SNP	C	C	T	rs142312726		TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:189943830C>T	ENST00000374866.3	-	15	1238	c.964G>A	c.(964-966)Gaa>Aaa	p.E322K		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	322					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			GGGCCAGCTTCACCCTAAAAA	0.378000													26	34					0	0	0.00178596	0	0
TC2N	123036	broad.mit.edu	37	14	92251698	92251698	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr14:92251698G>A	ENST00000435962.2	-	11	1493	c.1170C>T	c.(1168-1170)ttC>ttT	p.F390F	TC2N_ENST00000340892.5_Silent_p.F390F|TC2N_ENST00000556018.1_Silent_p.F326F|TC2N_ENST00000360594.5_Silent_p.F390F	NM_001128596.1	NP_001122068.1	Q8N9U0	TAC2N_HUMAN	tandem C2 domains, nuclear	390	C2.					nucleus				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		CCACCTTCACGAAAAAACCTA	0.323000													82	90					0	0	0.000781405	0	0
BAGE2	85319	broad.mit.edu	37	21	11039407	11039407	+	RNA	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr21:11039407C>T	ENST00000470054.1	-	0	796									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CATTAGAAATCTGTTTTTCCA	0.299000													12	148					0	0	0.000978159	0	0
LVRN	206338	broad.mit.edu	37	5	115336900	115336900	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:115336900T>C	ENST00000357872.4	+	10	1908	c.1784T>C	c.(1783-1785)cTt>cCt	p.L595P	AQPEP_ENST00000395528.2_Missense_Mutation_p.L112P	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		595					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding										CCATTTTATCTTGAAAACATT	0.413000													38	79					0	0	0.000509022	0	0
TSPEAR	54084	broad.mit.edu	37	21	45929219	45929219	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr21:45929219G>A	ENST00000323084.4	-	10	1682	c.1617C>T	c.(1615-1617)ttC>ttT	p.F539F	TSPEAR_ENST00000397916.1_Silent_p.F471F|TSPEAR-AS1_ENST00000451035.1_RNA	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	539					cell adhesion	extracellular region	structural molecule activity			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						CCACAGCGAGGAAGATCCTCT	0.572000													4	9					0	0	0.00024832	0	0
POM121	9883	broad.mit.edu	37	7	72413539	72413539	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr7:72413539C>T	ENST00000395270.1	+	14	3253	c.2212C>T	c.(2212-2214)Ccg>Tcg	p.P738S	POM121_ENST00000358357.3_Missense_Mutation_p.P738S|POM121_ENST00000257622.4_Missense_Mutation_p.P738S|POM121_ENST00000446813.1_Missense_Mutation_p.P738S|POM121_ENST00000434423.2_Missense_Mutation_p.P1003S	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	1003	Pore side (Potential).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				CTCTGCAGCCCCGGCTGCTGC	0.657000													31	110					0	0	0.000953801	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43817684	43817684	+	Missense_Mutation	SNP	A	A	C			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:43817684A>C	ENST00000553158.1	-	29	4327	c.4328T>G	c.(4327-4329)tTg>tGg	p.L1443W	ADAMTS20_ENST00000389420.3_Intron|ADAMTS20_ENST00000395541.2_Missense_Mutation_p.L561W			P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	0	TSP type-1 11.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TAGTTCCCACAAGATGATGGT	0.338000													6	7					0	0	8.12818e-05	0	0
ZNF276	92822	broad.mit.edu	37	16	89789072	89789072	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr16:89789072C>T	ENST00000289816.5	+	2	426	c.114C>T	c.(112-114)ctC>ctT	p.L38L	ZNF276_ENST00000568064.1_Silent_p.L38L|ZNF276_ENST00000443381.2_Silent_p.L113L|ZNF276_ENST00000446326.2_5'UTR	NM_152287.3	NP_689500.2	Q8N554	ZN276_HUMAN	zinc finger protein 276	113					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		AGCGCGTGCTCGTACGGGACT	0.647000													17	36					0	0	0.00121646	0	0
FLT1	2321	broad.mit.edu	37	13	29012394	29012394	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr13:29012394C>T	ENST00000282397.4	-	4	728	c.477G>A	c.(475-477)cgG>cgA	p.R159R	FLT1_ENST00000539099.1_Silent_p.R159R|FLT1_ENST00000541932.1_Silent_p.R159R	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	159	Ig-like C2-type 2.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	p.R159R(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	GTGACGTAACCCGGCAGGGAA	0.398000													18	28					0	0	0.000566183	0	0
DSG3	1830	broad.mit.edu	37	18	29039874	29039874	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr18:29039874C>T	ENST00000257189.4	+	6	667	c.584C>T	c.(583-585)gCc>gTc	p.A195V		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	195	Cadherin 2.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TCTAAAATTGCCTTCAAAATT	0.418000													23	39					0	0	0.000586117	0	0
LGALS9B	284194	broad.mit.edu	37	17	20363713	20363713	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr17:20363713C>T	ENST00000423676.3	-	2	146	c.83G>A	c.(82-84)gGa>gAa	p.G28E	LGALS9B_ENST00000324290.5_Missense_Mutation_p.G28E			Q3B8N2	LEG9B_HUMAN	lectin, galactoside-binding, soluble, 9B	28	Galectin 1.						sugar binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	10						GATCTGAAATCCGTCCTGGAG	0.567000													29	69					0	0	0.00128727	0	0
TRIM17	51127	broad.mit.edu	37	1	228596850	228596850	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:228596850C>T	ENST00000456946.2	-	6	1281	c.906G>A	c.(904-906)agG>agA	p.R302R	TRIM17_ENST00000366698.2_Intron|TRIM17_ENST00000366697.2_Intron|RP11-245P10.4_ENST00000436779.1_RNA|TRIM17_ENST00000295033.3_Intron	NM_001134855.1	NP_001128327.1	Q9Y577	TRI17_HUMAN	tripartite motif containing 17	302	B30.2/SPRY.				protein autoubiquitination	intracellular	protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10		Prostate(94;0.0724)				GGTCAGAGGTCCTGGCCCTGG	0.607000													40	51					0	0	0.000374591	0	0
ZCCHC16	340595	broad.mit.edu	37	X	111698523	111698523	+	Silent	SNP	T	T	C			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:111698523T>C	ENST00000340433.2	+	1	797	c.567T>C	c.(565-567)gcT>gcC	p.A189A		NM_001004308.2	NP_001004308.2	Q6ZR62	ZCH16_HUMAN	zinc finger, CCHC domain containing 16	189							nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						AGGCACTAGCTGATCCCAACC	0.468000													34	62					0	0	0.000409698	0	0
CCDC102A	92922	broad.mit.edu	37	16	57562891	57562891	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr16:57562891C>T	ENST00000258214.2	-	2	445	c.199G>A	c.(199-201)Ggc>Agc	p.G67S		NM_033212.3	NP_149989.2	Q96A19	C102A_HUMAN	coiled-coil domain containing 102A	67										endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8						TCCCAGTCGCCGTCGGCCAGC	0.801000													5	4					0	0	0.00116845	0	0
SH2D4B	387694	broad.mit.edu	37	10	82331323	82331323	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr10:82331323G>A	ENST00000339284.2	+	3	914	c.484G>A	c.(484-486)Gag>Aag	p.E162K	SH2D4B_ENST00000470604.2_Missense_Mutation_p.E161K|SH2D4B_ENST00000313455.4_Missense_Mutation_p.E113K	NM_207372.2	NP_997255.2	Q5SQS7	SH24B_HUMAN	SH2 domain containing 4B	161	Glu-rich.									endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)	13			Colorectal(32;0.229)			ACGCATCCACGAGGAATTCAA	0.592000													10	10					0	0	0.000151284	0	0
EMR1	2015	broad.mit.edu	37	19	6908704	6908704	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:6908704C>T	ENST00000312053.4	+	10	1080	c.1043C>T	c.(1042-1044)tCc>tTc	p.S348F	EMR1_ENST00000381407.5_Missense_Mutation_p.S207F|EMR1_ENST00000381404.4_Missense_Mutation_p.S296F|EMR1_ENST00000450315.3_Missense_Mutation_p.S171F|EMR1_ENST00000250572.8_Missense_Mutation_p.S348F	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	348	Ser/Thr-rich.				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					ACGCAGGTCTCCTTTTGTGCA	0.383000													25	47					0	0	0.000878237	0	0
TMEM132D	121256	broad.mit.edu	37	12	130185047	130185047	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:130185047G>A	ENST00000422113.2	-	2	602	c.276C>T	c.(274-276)gtC>gtT	p.V92V		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	92						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TGGCATTGAGGACAGGCAGCC	0.502000													21	32					0	0	0.000295444	0	0
CCR2	729230	broad.mit.edu	37	3	46399601	46399601	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:46399601C>T	ENST00000292301.4	+	2	1068	c.583C>T	c.(583-585)Cca>Tca	p.P195S	CCR2_ENST00000465202.1_Intron|CCR2_ENST00000445132.2_Missense_Mutation_p.P195S|CCR2_ENST00000400888.2_Missense_Mutation_p.P195S	NM_001123041.2	NP_001116513.2	P41597	CCR2_HUMAN	chemokine (C-C motif) receptor 2	195					astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity			breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		CCCTTATTTTCCACGAGGATG	0.453000													134	211					0	0	0.000781405	0	0
ZDHHC9	51114	broad.mit.edu	37	X	128946754	128946754	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:128946754G>A	ENST00000357166.6	-	8	1108	c.717C>T	c.(715-717)gtC>gtT	p.V239V	ZDHHC9_ENST00000371064.3_Silent_p.V239V	NM_016032.3	NP_057116.2	Q9Y397	ZDHC9_HUMAN	zinc finger, DHHC-type containing 9	239						endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acyltransferase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	19						TCAGTCCCACGACGGACCAGA	0.458000													62	82					0	0	0.000781405	0	0
ZCCHC17	51538	broad.mit.edu	37	1	31811831	31811831	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:31811831C>T	ENST00000373714.1	+	5	514	c.253C>T	c.(253-255)Ctc>Ttc	p.L85F	ZCCHC17_ENST00000479629.1_3'UTR|RP11-266K22.2_ENST00000430143.1_RNA|ZCCHC17_ENST00000422613.2_Missense_Mutation_p.L61F|ZCCHC17_ENST00000344147.5_Missense_Mutation_p.L85F|ZCCHC17_ENST00000546109.1_Missense_Mutation_p.L77F			Q9NP64	NO40_HUMAN	zinc finger, CCHC domain containing 17	85	S1 motif.					nucleolus	RNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(2)|ovary(1)|skin(1)	6		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)|all_neural(195;0.146)|Medulloblastoma(700;0.151)|Breast(348;0.222)		STAD - Stomach adenocarcinoma(196;0.0215)|READ - Rectum adenocarcinoma(331;0.168)		AAAAGTATCCCTCTCCATGAA	0.343000													17	36					0	0	0.00121646	0	0
OGT	8473	broad.mit.edu	37	X	70779460	70779460	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:70779460C>T	ENST00000373719.3	+	14	2001	c.1784C>T	c.(1783-1785)cCa>cTa	p.P595L	OGT_ENST00000373701.3_Missense_Mutation_p.P585L	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	595					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					GCCCTGAGCCCAGACGATGGC	0.403000													9	28					0	0	0.000978159	0	0
BEST3	144453	broad.mit.edu	37	12	70070720	70070720	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:70070720G>A	ENST00000330891.5	-	7	1069	c.843C>T	c.(841-843)ttC>ttT	p.F281F	BEST3_ENST00000331471.4_Silent_p.F281F|BEST3_ENST00000553096.1_Silent_p.F175F|BEST3_ENST00000488961.1_Intron|BEST3_ENST00000476098.1_Intron	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	281						chloride channel complex|plasma membrane	chloride channel activity	p.F281L(1)		cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			CATAGAAGAAGAATTGTAGGA	0.478000													43	82					0	0	0.000680045	0	0
B3GNTL1	146712	broad.mit.edu	37	17	80963044	80963044	+	Missense_Mutation	SNP	C	C	T	rs151094014	byFrequency	TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr17:80963044C>T	ENST00000576599.1	-	6	868	c.118G>A	c.(118-120)Gaa>Aaa	p.E40K	B3GNTL1_ENST00000571954.1_5'UTR|B3GNTL1_ENST00000320865.3_Missense_Mutation_p.E151K			Q67FW5	B3GNL_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1	151							transferase activity, transferring glycosyl groups			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)	all_cancers(8;0.0396)|all_epithelial(8;0.0556)	BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			GTGTATCGTTCGGTGGAGTTA	0.562000													33	74					0	0	0.00170553	0	0
NUP43	348995	broad.mit.edu	37	6	150059891	150059891	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:150059891G>A	ENST00000340413.2	-	5	602	c.526C>T	c.(526-528)Cat>Tat	p.H176Y	NUP43_ENST00000460354.2_Missense_Mutation_p.H176Y|NUP43_ENST00000367403.3_Intron|NUP43_ENST00000367404.4_Intron	NM_198887.1	NP_942590.1	Q8NFH3	NUP43_HUMAN	nucleoporin 43kDa	176					carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	protein binding			breast(1)|large_intestine(2)|lung(8)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;4.71e-13)|GBM - Glioblastoma multiforme(68;0.101)		GTTACAGCATGGAGTGTACTA	0.343000													39	73					0	0	0.000509022	0	0
AOC1	26	broad.mit.edu	37	7	150558263	150558263	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr7:150558263C>T	ENST00000493429.1	+	7	2806	c.2222C>T	c.(2221-2223)cCt>cTt	p.P741L	AOC1_ENST00000480582.1_3'UTR|AOC1_ENST00000467291.1_Missense_Mutation_p.P741L|AOC1_ENST00000416793.2_Missense_Mutation_p.P760L|AOC1_ENST00000360937.4_Missense_Mutation_p.P741L					amine oxidase, copper containing 1																		ATGCCTCCCCCTTTTAGCTAC	0.602000													10	25					0	0	0.000978159	0	0
ZFHX4	79776	broad.mit.edu	37	8	77767758	77767758	+	Silent	SNP	T	T	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr8:77767758T>A	ENST00000521891.2	+	10	9049	c.8601T>A	c.(8599-8601)tcT>tcA	p.S2867S	ZFHX4_ENST00000455469.2_Silent_p.S2822S|ZFHX4_ENST00000518282.1_Silent_p.S2841S|ZFHX4_ENST00000050961.6_Silent_p.S2822S	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2822						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)			TTCTCTTTTCTCTCACAAGCC	0.493000										HNSCC(33;0.089)			13	27					0	0	0.000308642	0	0
ARMC4	55130	broad.mit.edu	37	10	28224181	28224181	+	Splice_Site	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr10:28224181C>T	ENST00000305242.5	-	16	2345	c.2252_splice	c.e16-1	p.K751_splice	ARMC4_ENST00000545014.1_Splice_Site_p.K276_splice|ARMC4_ENST00000537576.1_Splice_Site_p.K443_splice	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	751							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						ATTCCCGAAACCTAAGTTCAT	0.393000													25	15					0	0	0.000586117	0	0
PM20D1	148811	broad.mit.edu	37	1	205811876	205811876	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:205811876C>T	ENST00000367136.4	-	7	875	c.831G>A	c.(829-831)ttG>ttA	p.L277L	PM20D1_ENST00000460624.1_5'UTR	NM_152491.4	NP_689704.4	Q6GTS8	P20D1_HUMAN	peptidase M20 domain containing 1	277						extracellular region	metal ion binding|peptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)	28	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			GTGTCTGCTCCAATCTGGAAG	0.473000													26	66					0	0	0.00047179	0	0
DNAH8	1769	broad.mit.edu	37	6	38843576	38843576	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:38843576C>T	ENST00000359357.3	+	51	7433	c.7179C>T	c.(7177-7179)acC>acT	p.T2393T	DNAH8_ENST00000449981.2_Silent_p.T2610T|DNAH8_ENST00000441566.1_Silent_p.T2357T					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CAAATCAAACCATGTATGAGT	0.353000													14	33					0	0	0.000219431	0	0
SLC32A1	140679	broad.mit.edu	37	20	37356590	37356590	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr20:37356590A>G	ENST00000217420.1	+	2	1149	c.886A>G	c.(886-888)Aag>Gag	p.K296E		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	296					neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	GGCCTGGGAGAAGGTCAAGTT	0.547000													23	35					0	0	0.00047179	0	0
EFCAB6	64800	broad.mit.edu	37	22	43933267	43933267	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr22:43933267G>A	ENST00000262726.7	-	29	4291	c.4038C>T	c.(4036-4038)tcC>tcT	p.S1346S	EFCAB6_ENST00000461800.1_5'UTR|EFCAB6_ENST00000396231.2_Silent_p.S1194S	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	1346	Interaction with PARK7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				CCAGGAAATCGGAGGCGTTGA	0.572000													75	29					0	0	0.000781405	0	0
DCTN5	84516	broad.mit.edu	37	16	23672571	23672571	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr16:23672571C>T	ENST00000300087.2	+	4	468	c.317C>T	c.(316-318)tCc>tTc	p.S106F	DCTN5_ENST00000563998.1_Missense_Mutation_p.S106F|DCTN5_ENST00000568589.1_Missense_Mutation_p.S106F	NM_001199743.1|NM_032486.3	NP_001186672.1|NP_115875.1	Q9BTE1	DCTN5_HUMAN	dynactin 5 (p25)	106						centrosome	transferase activity			endometrium(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	10				GBM - Glioblastoma multiforme(48;0.0156)		CAGATTGGTTCCTATGTTCAT	0.443000													26	38					0	0	0.000409698	0	0
TGOLN2	10618	broad.mit.edu	37	2	85554604	85554604	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:85554604G>A	ENST00000377386.3	-	2	713	c.251C>T	c.(250-252)tCg>tTg	p.S84L	TGOLN2_ENST00000409015.1_Missense_Mutation_p.S84L|TGOLN2_ENST00000398263.2_Missense_Mutation_p.S84L|TGOLN2_ENST00000282120.2_Intron|TGOLN2_ENST00000409232.3_Missense_Mutation_p.S84L|TGOLN2_ENST00000444342.2_Missense_Mutation_p.S84L			O43493	TGON2_HUMAN	trans-golgi network protein 2	84	14 X 14 AA tandem repeats.					integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle	protein binding										CTCCGCACCCGACTTGTTGGG	0.602000													86	156					0	0	0.000781405	0	0
SYVN1	84447	broad.mit.edu	37	11	64900952	64900952	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr11:64900952G>A	ENST00000526060.1	-	2	313	c.121C>T	c.(121-123)Ccc>Tcc	p.P41S	SYVN1_ENST00000294256.8_Missense_Mutation_p.P41S|SYVN1_ENST00000377190.3_Missense_Mutation_p.P41S|SYVN1_ENST00000307289.6_Missense_Mutation_p.P41S			Q86TM6	SYVN1_HUMAN	synovial apoptosis inhibitor 1, synoviolin	41					ER-associated protein catabolic process|response to stress	endoplasmic reticulum membrane|integral to membrane|nucleus	acid-amino acid ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						GCCATGCTGGGGCTGGACTTG	0.637000													19	13					0	0	0.000295444	0	0
PFAS	5198	broad.mit.edu	37	17	8167625	8167625	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr17:8167625C>T	ENST00000314666.6	+	16	2020	c.1887C>T	c.(1885-1887)ctC>ctT	p.L629L	PFAS_ENST00000585319.1_3'UTR|PFAS_ENST00000545834.1_Silent_p.L205L	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	629					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	ACCTGGAGCTCGAATGGGTGC	0.587000													11	14					0	0	0.000978159	0	0
TMEM35	59353	broad.mit.edu	37	X	100349697	100349697	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:100349697C>T	ENST00000372930.4	+	2	539	c.256C>T	c.(256-258)Ccc>Tcc	p.P86S	TMEM35_ENST00000478351.1_3'UTR	NM_021637.2	NP_067650.1	Q53FP2	TMM35_HUMAN	transmembrane protein 35	86						cytoplasmic membrane-bounded vesicle|integral to membrane|peroxisomal membrane				NS(1)|large_intestine(3)|liver(1)|skin(1)|urinary_tract(1)	7						GCCTGGGCGTCCCAAAGATGT	0.532000													53	99					0	0	0.000781405	0	0
EFCAB6	64800	broad.mit.edu	37	22	43933268	43933268	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr22:43933268G>A	ENST00000262726.7	-	29	4290	c.4037C>T	c.(4036-4038)tCc>tTc	p.S1346F	EFCAB6_ENST00000461800.1_5'UTR|EFCAB6_ENST00000396231.2_Missense_Mutation_p.S1194F	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	1346	Interaction with PARK7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				CAGGAAATCGGAGGCGTTGAT	0.567000													74	30					0	0	0.000781405	0	0
SCN10A	6336	broad.mit.edu	37	3	38793755	38793755	+	Silent	SNP	T	T	C			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:38793755T>C	ENST00000449082.2	-	11	1709	c.1710A>G	c.(1708-1710)caA>caG	p.Q570Q		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	570					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TGGGCGGCGGTTGGTGTTCAT	0.597000													36	70					0	0	0.00148497	0	0
FAM20A	54757	broad.mit.edu	37	17	66533797	66533797	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr17:66533797C>T	ENST00000592554.1	-	11	2169	c.1447G>A	c.(1447-1449)Gaa>Aaa	p.E483K	FAM20A_ENST00000226094.5_5'UTR|PRKAR1A_ENST00000588188.2_Intron	NM_001243746.1|NM_017565.3	NP_001230675.1|NP_060035.2	Q96MK3	FA20A_HUMAN	family with sequence similarity 20, member A	483						extracellular region				cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(1)	9	Breast(10;1.64e-13)					AGCTGGTCTTCCAGCAGTGAT	0.527000													9	10					0	0	0.000274275	0	0
ZNF135	7694	broad.mit.edu	37	19	58578608	58578608	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:58578608G>A	ENST00000506786.1	+	5	1184	c.630G>A	c.(628-630)cgG>cgA	p.R210R	ZNF135_ENST00000401053.4_Silent_p.R276R|ZNF135_ENST00000359978.6_Silent_p.R264R|ZNF135_ENST00000511556.1_Silent_p.R264R|ZNF135_ENST00000313434.5_Silent_p.R252R|ZNF135_ENST00000439855.2_Silent_p.R252R			B4DHH9	B4DHH9_HUMAN	zinc finger protein 135	264					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		AAGGCTTCCGGAACAGCTCGG	0.507000													44	67					0	0	0.000680045	0	0
USH2A	7399	broad.mit.edu	37	1	216496976	216496976	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:216496976G>A	ENST00000366943.2	-	8	1776	c.1390C>T	c.(1390-1392)Cgt>Tgt	p.R464C	USH2A_ENST00000307340.3_Missense_Mutation_p.R464C|USH2A_ENST00000366942.3_Missense_Mutation_p.R464C			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	464	Laminin N-terminal.		R -> C (in USH2A; uncertain pathogenicity).		maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TATCCAGGACGATAATTTGGT	0.373000										HNSCC(13;0.011)			40	95					0	0	0.000509022	0	0
TINF2	26277	broad.mit.edu	37	14	24710294	24710294	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr14:24710294G>A	ENST00000399423.4	-	5	866	c.536C>T	c.(535-537)cCt>cTt	p.P179L	TINF2_ENST00000558566.1_Intron|TINF2_ENST00000540705.1_Missense_Mutation_p.P144L|TINF2_ENST00000538777.1_Intron|TINF2_ENST00000559019.1_Intron|TINF2_ENST00000267415.7_Missense_Mutation_p.P179L	NM_012461.2	NP_036593.2	Q9BSI4	TINF2_HUMAN	TERF1 (TRF1)-interacting nuclear factor 2	179					negative regulation of epithelial cell proliferation|negative regulation of protein ADP-ribosylation|negative regulation of telomere maintenance via telomerase|positive regulation of telomere maintenance|protein localization to chromosome, telomeric region|telomere assembly|telomere maintenance via telomere lengthening	nuclear telomere cap complex|nucleoplasm|perinucleolar chromocenter	protein binding|telomeric DNA binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(265;0.0185)		AGAGACTCCAGGCTGCATCCA	0.517000									Congenital Dyskeratosis;Ataxia Pancytopenia syndrome				51	90					0	0	0.000781405	0	0
TMEM100	55273	broad.mit.edu	37	17	53798413	53798413	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr17:53798413T>C	ENST00000575734.1	-	4	827	c.19A>G	c.(19-21)Aag>Gag	p.K7E	TMEM100_ENST00000424486.2_Missense_Mutation_p.K7E	NM_001099640.1	NP_001093110.1	Q9NV29	TM100_HUMAN	transmembrane protein 100	7						integral to membrane				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	11						AGGATCTCCTTGATGGGCTCT	0.502000													38	58					0	0	0.00170553	0	0
OR2G2	81470	broad.mit.edu	37	1	247752599	247752599	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:247752599G>A	ENST00000320065.1	+	1	938	c.938G>A	c.(937-939)gGa>gAa	p.G313E	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	313					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			AAGGCTCTGGGAGtaaatatt	0.318000													27	87					0	0	0.000878237	0	0
PACSIN1	29993	broad.mit.edu	37	6	34499429	34499429	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:34499429G>A	ENST00000538621.1	+	9	1335	c.1090G>A	c.(1090-1092)Gag>Aag	p.E364K	PACSIN1_ENST00000244458.2_Missense_Mutation_p.E364K|PACSIN1_ENST00000374043.2_Missense_Mutation_p.E322K	NM_001199583.1	NP_001186512.1	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in neurons 1	364					endocytosis		protein kinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						GTCAGACGACGAGAGTGGGAA	0.622000													41	85					0	0	0.000781405	0	0
FAM188B	84182	broad.mit.edu	37	7	30921964	30921964	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr7:30921964C>T	ENST00000265299.6	+	16	2217	c.2140C>T	c.(2140-2142)Cgg>Tgg	p.R714W	AQP1_ENST00000509504.1_Missense_Mutation_p.R177W|AQP1_ENST00000434909.2_Missense_Mutation_p.R60W|INMT-FAM188B_ENST00000458257.1_3'UTR	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	714										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGAGCAGATCCGGCTGACCAT	0.627000													6	19					0	0	0.00116845	0	0
ZNF502	91392	broad.mit.edu	37	3	44763909	44763909	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:44763909C>T	ENST00000296091.4	+	4	1856	c.1600C>T	c.(1600-1602)Ctt>Ttt	p.L534F	ZNF502_ENST00000436624.2_Missense_Mutation_p.L534F|ZNF502_ENST00000449836.1_Missense_Mutation_p.L534F	NM_001134440.1|NM_033210.4	NP_001127912.1|NP_149987.2	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502	534					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		TAGTTCAGTCCTTTTCAGACA	0.428000													24	46					0	0	0.000878237	0	0
GLYATL2	219970	broad.mit.edu	37	11	58604849	58604849	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr11:58604849G>A	ENST00000287275.1	-	4	598	c.208C>T	c.(208-210)Cat>Tat	p.H70Y	GLYATL2_ENST00000533636.1_5'UTR|GLYATL2_ENST00000532258.1_Missense_Mutation_p.H70Y	NM_145016.3	NP_659453.3	Q8WU03	GLYL2_HUMAN	glycine-N-acyltransferase-like 2	70						mitochondrion	glycine N-acyltransferase activity			breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	TTGGTATAATGATCCTGGTCA	0.373000													28	17					0	0	0.001512	0	0
SLC7A8	23428	broad.mit.edu	37	14	23600687	23600687	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr14:23600687G>A	ENST00000316902.7	-	8	1821	c.1096C>T	c.(1096-1098)Cca>Tca	p.P366S	SLC7A8_ENST00000469263.1_Intron|SLC7A8_ENST00000453702.1_Missense_Mutation_p.P163S|SLC7A8_ENST00000529705.2_Missense_Mutation_p.P261S|SLC7A8_ENST00000422941.2_Missense_Mutation_p.P142S	NM_012244.3	NP_036376.2	Q9UHI5	LAT2_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 8	366					blood coagulation|cellular amino acid metabolic process|leukocyte migration|metal ion homeostasis|response to toxin	basolateral plasma membrane|cytoplasm|integral to plasma membrane	neutral amino acid transmembrane transporter activity|organic cation transmembrane transporter activity|peptide antigen binding|protein binding|toxin transporter activity			autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1)	24	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.00809)	L-Alanine(DB00160)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)	AGCAGGGCTGGGATTGGGGTG	0.567000													15	40					0	0	0.00074312	0	0
NOS1	4842	broad.mit.edu	37	12	117726024	117726024	+	Splice_Site	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:117726024C>T	ENST00000317775.6	-	5	1667	c.981_splice	c.e5-1	p.E328_splice	NOS1_ENST00000338101.4_Splice_Site_p.E328_splice|NOS1_ENST00000344089.3_Splice_Site_p.W346_splice	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	328					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	p.E328K(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	CATCCCGTTTCCTGGAAGATC	0.507000													26	45					0	0	0.001512	0	0
OR7G3	390883	broad.mit.edu	37	19	9236949	9236949	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:9236949C>T	ENST00000305444.2	-	1	677	c.678G>A	c.(676-678)atG>atA	p.M226I		NM_001001958.1	NP_001001958.1	Q8NG95	OR7G3_HUMAN	olfactory receptor, family 7, subfamily G, member 3	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						ATGGAATTTTCATGACAGAGG	0.423000													54	104					0	0	0.000781405	0	0
DNAH9	1770	broad.mit.edu	37	17	11666769	11666769	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr17:11666769C>T	ENST00000262442.3	+	36	7076	c.7008C>T	c.(7006-7008)atC>atT	p.I2336I	DNAH9_ENST00000454412.2_Silent_p.I2336I	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2336					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.I2336I(1)		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)		TTAAGAAGATCATTCCCATCC	0.498000													45	81					0	0	0.000781405	0	0
BIRC6	57448	broad.mit.edu	37	2	32740598	32740598	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:32740598G>T	ENST00000421745.2	+	55	11244	c.11110G>T	c.(11110-11112)Ggt>Tgt	p.G3704C		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3704					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					AGATTGGCTTGGTGGTTCTGA	0.418000													5	51					0.000602214	0.00336804	0.000602214	1	0
SPANXN1	494118	broad.mit.edu	37	X	144337235	144337235	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:144337235G>A	ENST00000370493.3	+	2	879	c.120G>A	c.(118-120)ttG>ttA	p.L40L		NM_001009614.2	NP_001009614.1	Q5VSR9	SPXN1_HUMAN	SPANX family, member N1	40										endometrium(2)|kidney(2)|lung(8)|prostate(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					AACCGAGTTTGAAAAAGATGA	0.408000													26	45					0	0	0.000586117	0	0
CELSR2	1952	broad.mit.edu	37	1	109807531	109807531	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:109807531C>T	ENST00000271332.3	+	12	5567	c.5506C>T	c.(5506-5508)Ccg>Tcg	p.P1836S		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1836	EGF-like 6; calcium-binding.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TGACCTGAACCCGTGTGAGCA	0.567000													158	279					0	0	0.000781405	0	0
FAM83B	222584	broad.mit.edu	37	6	54806277	54806277	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:54806277G>A	ENST00000306858.7	+	5	2624	c.2508G>A	c.(2506-2508)tcG>tcA	p.S836S		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	836	Poly-Ser.									autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					CTTCCTCATCGAATTCTCAAG	0.388000													8	20					0	0	0.000157383	0	0
PRSS54	221191	broad.mit.edu	37	16	58319856	58319856	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr16:58319856C>T	ENST00000219301.4	-	5	901	c.507G>A	c.(505-507)tgG>tgA	p.W169*	PRSS54_ENST00000543437.1_Nonsense_Mutation_p.W70*|PRSS54_ENST00000567164.1_Nonsense_Mutation_p.W169*	NM_001080492.1	NP_001073961.1	Q6PEW0	PRS54_HUMAN	protease, serine, 54	169	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						ATGTGGGATTCCATCCTGACA	0.537000													23	33					0	0	0.000586117	0	0
TIE1	7075	broad.mit.edu	37	1	43773242	43773242	+	Splice_Site	SNP	A	A	C			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:43773242A>C	ENST00000372476.3	+	6	991	c.913_splice	c.e6+1	p.E304_splice	TIE1_ENST00000538015.1_Splice_Site_p.E304_splice|TIE1_ENST00000441333.2_Splice_Site_p.E304_splice|TIE1_ENST00000433781.2_5'UTR	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	304					mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				AGTGCCAAGAAGGTATGCCTA	0.612000													17	34					0	0	0.00152264	0	0
GPR149	344758	broad.mit.edu	37	3	154138962	154138962	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:154138962C>T	ENST00000389740.2	-	3	1588	c.1489G>A	c.(1489-1491)Gga>Aga	p.G497R		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	497						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			ATATCACCTCCTGTTTTGTCA	0.403000													65	66					0	0	0.000781405	0	0
TRANK1	9881	broad.mit.edu	37	3	36872412	36872412	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:36872412C>T	ENST00000301807.6	-	21	8777	c.6880G>A	c.(6880-6882)Gtt>Att	p.V2294I	TRANK1_ENST00000428977.2_Missense_Mutation_p.V2294I|TRANK1_ENST00000429976.2_Missense_Mutation_p.V2844I	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2844					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						ATATCCGAAACCCTCTTGATG	0.602000													34	48					0	0	0.000339439	0	0
ILDR1	286676	broad.mit.edu	37	3	121712403	121712403	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:121712403G>A	ENST00000273691.3	-	6	1166	c.1061C>T	c.(1060-1062)tCg>tTg	p.S354L	ILDR1_ENST00000393631.1_Missense_Mutation_p.S309L|ILDR1_ENST00000344209.5_Missense_Mutation_p.S398L|ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000462014.1_Missense_Mutation_p.S366L	NM_175924.3	NP_787120.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	398						cytosol|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		TCCACTCCACGATGGGTCCAA	0.587000													17	26					0	0	0.000422831	0	0
TRAF3IP1	26146	broad.mit.edu	37	2	239234471	239234471	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:239234471T>A	ENST00000373327.4	+	3	436	c.214T>A	c.(214-216)Ttc>Atc	p.F72I	TRAF3IP1_ENST00000391994.2_Missense_Mutation_p.F72I|TRAF3IP1_ENST00000391993.3_Missense_Mutation_p.F72I	NM_015650.3	NP_056465.2	Q8TDR0	MIPT3_HUMAN	TNF receptor-associated factor 3 interacting protein 1	72	Abolishes microtubules-binding when missing.					cytoplasm|cytoskeleton	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(2)	23		all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182)		Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184)		AAAAATTAGCTTCCTACAAAA	0.418000													10	28					0	0	0.000978159	0	0
SLIT2	9353	broad.mit.edu	37	4	20598053	20598053	+	Missense_Mutation	SNP	G	G	C	rs151150739	byFrequency	TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr4:20598053G>C	ENST00000504154.1	+	32	3588	c.3336G>C	c.(3334-3336)gaG>gaC	p.E1112D	SLIT2_ENST00000503837.1_Missense_Mutation_p.E1108D|SLIT2_ENST00000273739.5_Missense_Mutation_p.E1125D|SLIT2_ENST00000503823.1_Missense_Mutation_p.E1104D	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1112	EGF-like 5; calcium-binding (Potential).				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TGTTCTGTGAGTTTTCTCCAC	0.378000													26	69					0	0	0.00058488	0	0
SCNN1A	6337	broad.mit.edu	37	12	6463605	6463605	+	Splice_Site	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:6463605C>T	ENST00000358945.3	-	7	1799	c.1360_splice	c.e7+1	p.W453_splice	SCNN1A_ENST00000543768.1_Splice_Site_p.W476_splice|SCNN1A_ENST00000396966.2_Splice_Site_p.W453_splice|SCNN1A_ENST00000228916.2_Splice_Site_p.W453_splice|SCNN1A_ENST00000360168.3_Splice_Site_p.W512_splice|SCNN1A_ENST00000540037.1_Splice_Site_p.W153_splice|SCNN1A_ENST00000538979.1_5'UTR			P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	453					excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	GAGTCTCACCCCAGGAACTGT	0.572000													40	57					0	0	0.000509022	0	0
ZFP41	286128	broad.mit.edu	37	8	144332163	144332163	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr8:144332163C>T	ENST00000330701.4	+	2	519	c.150C>T	c.(148-150)ccC>ccT	p.P50P	ZFP41_ENST00000522452.1_Silent_p.P50P|ZFP41_ENST00000520584.1_Silent_p.P50P	NM_173832.3	NP_776193.1	Q8N8Y5	ZFP41_HUMAN	ZFP41 zinc finger protein	50					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|lung(4)|ovary(1)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.6e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			GCACAGAGCCCTGCCTGAGTC	0.562000													10	11					0	0	0.000673444	0	0
FOXN1	8456	broad.mit.edu	37	17	26861982	26861982	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr17:26861982C>T	ENST00000226247.2	+	7	1422	c.1393C>T	c.(1393-1395)Cct>Tct	p.P465S	FOXN1_ENST00000579795.1_Missense_Mutation_p.P465S	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN	forkhead box N1	465					defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					CCTGGCCCCTCCTGGACCCCC	0.672000													5	13					0	0	0.000602214	0	0
GBE1	2632	broad.mit.edu	37	3	81698054	81698054	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:81698054G>A	ENST00000429644.2	-	5	1287	c.644C>T	c.(643-645)tCt>tTt	p.S215F	GBE1_ENST00000489715.1_Missense_Mutation_p.S174F	NM_000158.3	NP_000149.3	Q04446	GLGB_HUMAN	glucan (1,4-alpha-), branching enzyme 1	215					glucose metabolic process|glycogen biosynthetic process	cytosol	1,4-alpha-glucan branching enzyme activity|cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)		ATGTTTATAAGAAGCTACTTT	0.328000									Glycogen Storage Disease, type IV				7	26					0	0	8.12818e-05	0	0
FAM91A1	157769	broad.mit.edu	37	8	124790922	124790922	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr8:124790922C>T	ENST00000334705.7	+	6	705	c.459C>T	c.(457-459)gcC>gcT	p.A153A	FAM91A1_ENST00000521166.1_Silent_p.A153A	NM_144963.2	NP_659400.2	Q658Y4	F91A1_HUMAN	family with sequence similarity 91, member A1	153										breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			GGAAAACAGCCCGTGATCTTC	0.393000													24	34					0	0	0.000878237	0	0
MYO7B	4648	broad.mit.edu	37	2	128367259	128367259	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:128367259T>C	ENST00000389524.4	+	23	3046	c.2993T>C	c.(2992-2994)tTg>tCg	p.L998S	MYO7B_ENST00000409816.2_Missense_Mutation_p.L998S|MYO7B_ENST00000428314.1_Missense_Mutation_p.L998S			Q6PIF6	MYO7B_HUMAN	myosin VIIB	998	MyTH4 1.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CGATACCCGTTGCTTTACCAC	0.587000													29	61					0	0	0.00148497	0	0
MXRA5	25878	broad.mit.edu	37	X	3241849	3241849	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:3241849G>A	ENST00000217939.6	-	5	2031	c.1877C>T	c.(1876-1878)tCa>tTa	p.S626L		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	626	Ig-like C2-type 2.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GTATACATGTGATGTGTTAGC	0.453000													22	31					0	0	0.000229342	0	0
RXFP2	122042	broad.mit.edu	37	13	32366933	32366933	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr13:32366933G>A	ENST00000298386.2	+	16	1565	c.1494G>A	c.(1492-1494)atG>atA	p.M498I	RXFP2_ENST00000380314.1_Missense_Mutation_p.M474I	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	498						integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		GCCGCCTCATGGGGTTCCTGG	0.483000													22	27					0	0	0.00047179	0	0
ZSWIM7	125150	broad.mit.edu	37	17	15884382	15884382	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr17:15884382G>A	ENST00000399277.1	-	4	375	c.278C>T	c.(277-279)tCa>tTa	p.S93L	ZSWIM7_ENST00000486655.1_Intron|ZSWIM7_ENST00000472495.1_Missense_Mutation_p.S93L|ZSWIM7_ENST00000399280.2_5'UTR	NM_001042697.1|NM_001042698.1	NP_001036162.1|NP_001036163.1	Q19AV6	ZSWM7_HUMAN	zinc finger, SWIM-type containing 7	93					DNA recombination|DNA repair	nucleus	zinc ion binding			upper_aerodigestive_tract(1)	1				UCEC - Uterine corpus endometrioid carcinoma (92;0.0827)		CCGTAGCACTGAGAATGCAAA	0.428000													10	12					0	0	0.000978159	0	0
ATP2B3	492	broad.mit.edu	37	X	152835064	152835064	+	Nonsense_Mutation	SNP	G	G	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:152835064G>T	ENST00000370186.1	+	20	3630	c.3304G>T	c.(3304-3306)Gag>Tag	p.E1102*	ATP2B3_ENST00000359149.3_Nonsense_Mutation_p.E1116*|ATP2B3_ENST00000393842.1_Nonsense_Mutation_p.E1102*|ATP2B3_ENST00000263519.4_Intron|ATP2B3_ENST00000370181.2_Nonsense_Mutation_p.E1102*|ATP2B3_ENST00000349466.2_Intron			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	1116	Calmodulin-binding subdomain A (By similarity).				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCCACAGATGGAGGTAGTGAG	0.557000													37	93					1.07121e-22	6.08275e-22	0.00148497	1	0
CDH16	1014	broad.mit.edu	37	16	66948290	66948290	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr16:66948290C>T	ENST00000299752.4	-	7	802	c.609G>A	c.(607-609)ctG>ctA	p.L203L	CDH16_ENST00000394055.3_Silent_p.L203L|CDH16_ENST00000570262.1_Silent_p.L123L|CDH16_ENST00000568632.1_Intron|CDH16_ENST00000565796.1_Silent_p.L203L	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	203	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		AGGTCCTCTCCAGGGCGTGGT	0.607000													10	19					0	0	0.000673444	0	0
MUC16	94025	broad.mit.edu	37	19	9059483	9059483	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:9059483G>A	ENST00000397910.4	-	3	28166	c.27963C>T	c.(27961-27963)tcC>tcT	p.S9321S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9323	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						CTTCTGTCCTGGAGACCTCAG	0.498000													31	60					0	0	0.000491102	0	0
PCDHGA12	26025	broad.mit.edu	37	5	140811671	140811671	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:140811671C>T	ENST00000252085.3	+	1	1487	c.1345C>T	c.(1345-1347)Ccg>Tcg	p.P449S	PCDHGB3_ENST00000576222.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1														breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAACGACAACCCGCCGGTCTT	0.582000													8	39					0	0	0.000673444	0	0
KANSL3	55683	broad.mit.edu	37	2	97279279	97279279	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:97279279G>A	ENST00000599854.1	-	6	947	c.480C>T	c.(478-480)ctC>ctT	p.L160L	KANSL3_ENST00000431828.1_Silent_p.L247L|KANSL3_ENST00000487070.1_5'UTR|KANSL3_ENST00000440133.1_Silent_p.L41L|KANSL3_ENST00000441706.2_Silent_p.L160L	NM_001115016.2	NP_001108488.1	Q9P2N6	K1310_HUMAN	KAT8 regulatory NSL complex subunit 3	247																	TCTTCAGTAGGAGAGACAAGG	0.468000													31	58					0	0	0.00058488	0	0
ITPR2	3709	broad.mit.edu	37	12	26714877	26714877	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:26714877G>A	ENST00000381340.3	-	35	5055	c.4639C>T	c.(4639-4641)Cgt>Tgt	p.R1547C		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1547					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					GCAATTCCACGATTTTTTGCT	0.323000													13	26					0	0	0.000308642	0	0
HARS2	23438	broad.mit.edu	37	5	140075147	140075147	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:140075147C>T	ENST00000230771.3	+	5	677	c.454C>T	c.(454-456)Cat>Tat	p.H152Y	HARS2_ENST00000435019.2_Missense_Mutation_p.H112Y|HARS2_ENST00000448069.2_Intron|HARS2_ENST00000432671.2_Intron|HARS2_ENST00000508522.1_Missense_Mutation_p.H127Y|HARS2_ENST00000502303.1_3'UTR|HARS2_ENST00000437649.2_Intron	NM_012208.2	NP_036340.1	P49590	SYHM_HUMAN	histidyl-tRNA synthetase 2, mitochondrial	152					histidyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|histidine-tRNA ligase activity			NS(1)|endometrium(3)|large_intestine(5)|lung(10)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAACGTTATCATGTTGGAAA	0.473000													39	77					0	0	0.00148497	0	0
TCHHL1	126637	broad.mit.edu	37	1	152059653	152059653	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:152059653G>A	ENST00000368806.1	-	3	569	c.505C>T	c.(505-507)Cca>Tca	p.P169S		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	169							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			GCTTCTCCTGGAAAGTTGTGA	0.438000													33	58					0	0	0.000814825	0	0
PCDH11X	27328	broad.mit.edu	37	X	91090558	91090558	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:91090558T>C	ENST00000373094.1	+	1	900	c.55T>C	c.(55-57)Ttc>Ctc	p.F19L	PCDH11X_ENST00000298274.8_Missense_Mutation_p.F19L|PCDH11X_ENST00000361724.1_Missense_Mutation_p.F19L|PCDH11X_ENST00000406881.1_Missense_Mutation_p.F19L|PCDH11X_ENST00000361655.2_Missense_Mutation_p.F19L|PCDH11X_ENST00000504220.1_Missense_Mutation_p.F19L|PCDH11X_ENST00000373097.1_Missense_Mutation_p.F19L|PCDH11X_ENST00000395337.2_Missense_Mutation_p.F19L|PCDH11X_ENST00000373088.1_Missense_Mutation_p.F19L	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	19					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						ATGCGTGGTGTTCCACTCTGG	0.483000													23	36					0	0	0.00047179	0	0
RPL5	6125	broad.mit.edu	37	1	93298949	93298949	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:93298949T>C	ENST00000370321.3	+	2	97	c.7T>C	c.(7-9)Ttt>Ctt	p.F3L		NM_000969.3	NP_000960.2	P46777	RL5_HUMAN	ribosomal protein L5	3					endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	5S rRNA binding|protein binding|structural constituent of ribosome			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)		CTTTAAGGGGTTTGTTAAAGT	0.299000													16	30					0	0	0.000422831	0	0
MUC16	94025	broad.mit.edu	37	19	9077469	9077469	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:9077469C>T	ENST00000397910.4	-	3	10180	c.9977G>A	c.(9976-9978)gGg>gAg	p.G3326E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3327	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						CTGACCAGTCCCTGTGATGCT	0.517000													35	56					0	0	0.00058488	0	0
CYP11A1	1583	broad.mit.edu	37	15	74636166	74636166	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr15:74636166C>T	ENST00000358632.4	-	4	1014	c.319G>A	c.(319-321)Gac>Aac	p.D107N	CYP11A1_ENST00000419019.2_Missense_Mutation_p.D107N|CYP11A1_ENST00000268053.6_Missense_Mutation_p.D265N|CYP11A1_ENST00000541301.1_3'UTR	NM_001099773.1	NP_001093243.1	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1	265					C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	GCCACATGGTCCTTCCAGGTC	0.577000													72	107					0	0	0.000781405	0	0
MUC16	94025	broad.mit.edu	37	19	9046254	9046254	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:9046254G>A	ENST00000397910.4	-	5	35580	c.35377C>T	c.(35377-35379)Cct>Tct	p.P11793S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11795	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						GATACTTGAGGAAACACAGTT	0.478000													17	16					0	0	0.000566183	0	0
NLRP9	338321	broad.mit.edu	37	19	56249473	56249473	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:56249473C>T	ENST00000332836.2	-	1	295	c.268G>A	c.(268-270)Gaa>Aaa	p.E90K		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	90	DAPIN.					cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		CTCATCTCTTCCTGAGCCTTT	0.498000													191	313					0	0	0.000781405	0	0
ALOX12B	242	broad.mit.edu	37	17	7979013	7979013	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr17:7979013G>A	ENST00000319144.4	-	12	1814	c.1554C>T	c.(1552-1554)acC>acT	p.T518T	ALOX12B_ENST00000577351.1_Intron	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	518	Lipoxygenase.				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						GGTAATAATAGGTGATGATCT	0.587000										Multiple Myeloma(8;0.094)			50	95					0	0	0.000781405	0	0
EPHA3	2042	broad.mit.edu	37	3	89521711	89521711	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:89521711G>A	ENST00000336596.2	+	16	3013	c.2788G>A	c.(2788-2790)Gaa>Aaa	p.E930K	EPHA3_ENST00000494014.1_Intron	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	930	SAM.					extracellular region|integral to plasma membrane	ATP binding	p.E930K(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		ACACTGCAAGGAAATCTTCAC	0.423000										TSP Lung(6;0.00050)			27	48					0	0	0.000878237	0	0
CCAR1	55749	broad.mit.edu	37	10	70514543	70514543	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr10:70514543G>A	ENST00000265872.6	+	12	1536	c.1417G>A	c.(1417-1419)Gaa>Aaa	p.E473K	CCAR1_ENST00000535016.1_Missense_Mutation_p.E458K|CCAR1_ENST00000543719.1_Missense_Mutation_p.E458K	NM_018237.2	NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	473					apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						GGACCCACAAGAACTTCGAGA	0.368000													38	14					0	0	0.000374591	0	0
AHNAK	79026	broad.mit.edu	37	11	62300683	62300683	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr11:62300683G>A	ENST00000378024.4	-	5	1480	c.1206C>T	c.(1204-1206)ccC>ccT	p.P402P	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	402					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CCCCAATTTGGGGAGCAGAGG	0.577000													15	6					0	0	0.000308642	0	0
PDE6C	5146	broad.mit.edu	37	10	95372779	95372779	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr10:95372779C>T	ENST00000371447.3	+	1	435	c.297C>T	c.(295-297)ttC>ttT	p.F99F		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	99	GAF 1.				visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				GCAGCATGTTCCTGTGCCGGT	0.652000													17	12					0	0	0.000566183	0	0
ZBTB20	26137	broad.mit.edu	37	3	114070718	114070718	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:114070718G>A	ENST00000474710.1	-	4	385	c.207C>T	c.(205-207)atC>atT	p.I69I	ZBTB20-AS1_ENST00000496219.1_RNA|ZBTB20_ENST00000471418.1_5'UTR|ZBTB20_ENST00000393785.2_5'UTR|ZBTB20_ENST00000464560.1_5'UTR|ZBTB20_ENST00000357258.3_5'UTR|ZBTB20-AS1_ENST00000475939.1_RNA|ZBTB20_ENST00000462705.1_5'UTR|ZBTB20_ENST00000481632.1_5'UTR	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	69					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		CCTTGCAACTGATGTCACCTG	0.522000													30	41					0	0	0.000814825	0	0
PTPRB	5787	broad.mit.edu	37	12	70988397	70988397	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:70988397C>T	ENST00000334414.6	-	6	1410	c.1366G>A	c.(1366-1368)Gat>Aat	p.D456N	PTPRB_ENST00000451516.2_Missense_Mutation_p.D238N|PTPRB_ENST00000550358.1_Missense_Mutation_p.D456N|PTPRB_ENST00000538708.1_Missense_Mutation_p.D238N|PTPRB_ENST00000551525.1_Missense_Mutation_p.D455N|PTPRB_ENST00000550857.1_Missense_Mutation_p.D238N|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000261266.5_Missense_Mutation_p.D238N	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	238	Fibronectin type-III 5.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			ATCCCTTTATCCATTAGCATC	0.468000													17	42					0	0	0.00121646	0	0
N4BP2	55728	broad.mit.edu	37	4	40108641	40108641	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr4:40108641C>T	ENST00000261435.6	+	5	1911	c.1495C>T	c.(1495-1497)Cgt>Tgt	p.R499C		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	499						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						GAACCAGAATCGTGGTAAGAA	0.313000													23	40					0	0	0.000586117	0	0
ZNF415	55786	broad.mit.edu	37	19	53612696	53612696	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:53612696G>A	ENST00000455735.2	-	7	1066	c.746C>T	c.(745-747)tCa>tTa	p.S249L	ZNF415_ENST00000448501.1_Missense_Mutation_p.S249L|ZNF415_ENST00000243643.4_Missense_Mutation_p.S201L|ZNF415_ENST00000500065.4_Missense_Mutation_p.S201L|ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000601493.1_5'UTR|ZNF415_ENST00000440291.1_Missense_Mutation_p.S188L|ZNF415_ENST00000421033.1_Missense_Mutation_p.S213L|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000594011.1_3'UTR			Q09FC8	ZN415_HUMAN	zinc finger protein 415	249					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding			breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		TGTGAGTAATGAAGAACAGAT	0.383000													25	54					0	0	0.000375601	0	0
DPYD	1806	broad.mit.edu	37	1	98060686	98060686	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:98060686C>T	ENST00000370192.3	-	9	987	c.887G>A	c.(886-888)gGc>gAc	p.G296D		NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	296					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	CTGCGTCAGGCCTTGGAAGAT	0.373000													34	75					0	0	0.00148497	0	0
AOC1	26	broad.mit.edu	37	7	150558262	150558262	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr7:150558262C>T	ENST00000493429.1	+	7	2805	c.2221C>T	c.(2221-2223)Cct>Tct	p.P741S	AOC1_ENST00000480582.1_3'UTR|AOC1_ENST00000467291.1_Missense_Mutation_p.P741S|AOC1_ENST00000416793.2_Missense_Mutation_p.P760S|AOC1_ENST00000360937.4_Missense_Mutation_p.P741S					amine oxidase, copper containing 1																		GATGCCTCCCCCTTTTAGCTA	0.607000													10	26					0	0	0.000978159	0	0
SLC9A6	10479	broad.mit.edu	37	X	135104756	135104756	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:135104756C>T	ENST00000370695.4	+	11	1397	c.1362C>T	c.(1360-1362)ttC>ttT	p.F454F	SLC9A6_ENST00000370698.3_Silent_p.F422F|SLC9A6_ENST00000370701.1_Silent_p.F402F	NM_001042537.1	NP_001036002.1	Q92581	SL9A6_HUMAN	solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6	422					regulation of pH	early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane	sodium:hydrogen antiporter activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					TTGCTATTTTCTTGGGAAGAG	0.313000													24	49					0	0	0.00106085	0	0
VPS13C	54832	broad.mit.edu	37	15	62214859	62214859	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr15:62214859G>A	ENST00000261517.5	-	54	6785	c.6712C>T	c.(6712-6714)Ctt>Ttt	p.L2238F	VPS13C_ENST00000395898.3_Missense_Mutation_p.L2195F|VPS13C_ENST00000249837.3_Missense_Mutation_p.L2195F|VPS13C_ENST00000395896.4_Missense_Mutation_p.L2238F	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	2238					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						ATACCCCAAAGATTTTCCATT	0.363000													36	78					0	0	0.00148497	0	0
C7orf65	401335	broad.mit.edu	37	7	47694908	47694908	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr7:47694908G>A	ENST00000408988.2	+	1	67	c.32G>A	c.(31-33)gGa>gAa	p.G11E		NM_001123065.1	NP_001116537.1	Q6ZTY9	CG065_HUMAN	chromosome 7 open reading frame 65	11										endometrium(1)|lung(2)	3						TCAACAGAAGGAAGACGGCTC	0.627000													8	29					0	0	0.000442599	0	0
AP1M1	8907	broad.mit.edu	37	19	16338374	16338374	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:16338374C>T	ENST00000291439.3	+	7	1138	c.689C>T	c.(688-690)tCc>tTc	p.S230F	AP1M1_ENST00000590756.1_Missense_Mutation_p.S158F|AP1M1_ENST00000444449.2_Missense_Mutation_p.S242F|AP1M1_ENST00000541844.1_Missense_Mutation_p.S158F|AP1M1_ENST00000429941.2_Missense_Mutation_p.S230F	NM_032493.3	NP_115882.1	Q9BXS5	AP1M1_HUMAN	adaptor-related protein complex 1, mu 1 subunit	230	MHD.				cellular membrane organization|endosome to melanosome transport|interspecies interaction between organisms|intracellular protein transport|melanosome organization|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2)	21						AAAAGCAAATCCGTGGAGCTG	0.602000													26	47					0	0	0.001512	0	0
PCSK1	5122	broad.mit.edu	37	5	95728987	95728987	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:95728987C>T	ENST00000311106.3	-	14	2217	c.1980G>A	c.(1978-1980)gaG>gaA	p.E660E	PCSK1_ENST00000508626.1_Silent_p.E613E|PCSK1_ENST00000513085.1_5'UTR|CTD-2337A12.1_ENST00000502645.2_RNA	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	660					cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AAGGGGCTCCCTCCTCCAACT	0.562000													21	47					0	0	0.00121646	0	0
GAPT	202309	broad.mit.edu	37	5	57790678	57790678	+	Silent	SNP	A	A	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:57790678A>T	ENST00000396776.2	+	3	777	c.315A>T	c.(313-315)ggA>ggT	p.G105G	GAPT_ENST00000318469.2_Silent_p.G105G	NM_152687.2	NP_689900.1	Q8N292	GAPT_HUMAN	GRB2-binding adaptor protein, transmembrane	105					B cell activation	integral to membrane|plasma membrane				NS(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7						AAGCTAAAGGAAAAACCGATA	0.403000													39	46					0	0	0.00128727	0	0
FERMT1	55612	broad.mit.edu	37	20	6088199	6088199	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr20:6088199A>T	ENST00000217289.4	-	6	1617	c.829T>A	c.(829-831)Ttc>Atc	p.F277I	FERMT1_ENST00000536936.1_Missense_Mutation_p.F20I	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1	277	FERM.				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						AAGTCGAAGAAAGAATAATAT	0.368000													11	20					0	0	0.000219431	0	0
SIRPB2	284759	broad.mit.edu	37	20	1471926	1471926	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr20:1471926G>A	ENST00000359801.3	-	1	116	c.80C>T	c.(79-81)cCc>cTc	p.P27L	SIRPB2_ENST00000444444.1_Missense_Mutation_p.P27L|SIRPB2_ENST00000381630.1_Missense_Mutation_p.P27L|SIRPB2_ENST00000537284.1_5'UTR	NM_001122962.1	NP_001116434.1	Q5JXA9	SIRB2_HUMAN	signal-regulatory protein beta 2	27						integral to membrane				endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CTTACCTGAGGGGACAAGGAC	0.617000													12	20					0	0	0.000151284	0	0
PLEKHM2	23207	broad.mit.edu	37	1	16060315	16060315	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:16060315C>T	ENST00000375799.3	+	20	3173	c.2946C>T	c.(2944-2946)atC>atT	p.I982I	RP11-288I21.1_ENST00000453804.1_RNA|PLEKHM2_ENST00000477849.1_3'UTR|PLEKHM2_ENST00000375793.2_Silent_p.I962I	NM_015164.2	NP_055979.2	Q8IWE5	PKHM2_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 2	982					Golgi organization	cytoplasm	kinesin binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		ACACGGCGATCCAGGAAGCCT	0.642000													21	57					0	0	0.000375601	0	0
KIAA1804	84451	broad.mit.edu	37	1	233515355	233515355	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:233515355C>T	ENST00000366624.3	+	9	2864	c.2603C>T	c.(2602-2604)tCc>tTc	p.S868F	MLK4_ENST00000366622.1_Missense_Mutation_p.S314F	NM_032435.2	NP_115811.2																					TTGCCGTCTTCCTTCCTACAG	0.498000													19	40					0	0	0.000958276	0	0
MGAT4C	25834	broad.mit.edu	37	12	86373853	86373853	+	Silent	SNP	T	T	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:86373853T>A	ENST00000604798.1	-	8	1855	c.651A>T	c.(649-651)tcA>tcT	p.S217S	MGAT4C_ENST00000332156.1_Silent_p.S217S|MGAT4C_ENST00000552435.2_Intron|MGAT4C_ENST00000552808.2_Silent_p.S217S|MGAT4C_ENST00000548651.1_Silent_p.S217S|MGAT4C_ENST00000549405.2_Silent_p.S217S|MGAT4C_ENST00000393205.2_Silent_p.S246S			Q9UBM8	MGT4C_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)	217					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						CATAATAGTCTGAAGTATTGG	0.333000													21	33					0	0	0.00152264	0	0
SERINC3	10955	broad.mit.edu	37	20	43129877	43129877	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr20:43129877G>A	ENST00000342374.4	-	9	1277	c.1120C>T	c.(1120-1122)Ctt>Ttt	p.L374F	SERINC3_ENST00000541235.1_Missense_Mutation_p.L319F|SERINC3_ENST00000255175.1_Missense_Mutation_p.L374F	NM_006811.2	NP_006802.1	Q13530	SERC3_HUMAN	serine incorporator 3	374						integral to membrane|plasma membrane	protein binding			endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			GTATCACCAAGGATGACGCTG	0.512000													31	49					0	0	0.00058488	0	0
MAP7D1	55700	broad.mit.edu	37	1	36644056	36644056	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:36644056C>T	ENST00000316156.4	+	9	2087	c.1634C>T	c.(1633-1635)cCc>cTc	p.P545L	MAP7D1_ENST00000373151.2_Missense_Mutation_p.P582L|MAP7D1_ENST00000373148.4_Missense_Mutation_p.P119L|MAP7D1_ENST00000373150.4_Missense_Mutation_p.P550L			Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	582	Pro-rich.					cytoplasm|spindle				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				GCCCCTGCTCCCCCGGTGACC	0.682000													5	6					0	0	0.000157383	0	0
MAP3K19	80122	broad.mit.edu	37	2	135743570	135743570	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:135743570C>T	ENST00000375845.3	-	7	2902	c.2872G>A	c.(2872-2874)Gac>Aac	p.D958N	MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000358371.4_Missense_Mutation_p.D845N|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000392915.1_Missense_Mutation_p.D975N|MAP3K19_ENST00000375844.3_Intron	NM_025052.3	NP_079328.3			mitogen-activated protein kinase kinase kinase 19																		TTTACAGAGTCCATAATTTCT	0.308000													14	31					0	0	0.000151284	0	0
LIPI	149998	broad.mit.edu	37	21	15561499	15561499	+	Silent	SNP	G	G	A	rs148528170	byFrequency	TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr21:15561499G>A	ENST00000344577.2	-	2	376	c.351C>T	c.(349-351)ttC>ttT	p.F117F	LIPI_ENST00000536861.1_Silent_p.F96F	NM_198996.2	NP_945347.1	Q6XZB0	LIPI_HUMAN	lipase, member I	96					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity	p.F117F(1)		endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		AAATCCTTACGAAGTTCTGAA	0.368000													26	50					0	0	0.00127121	0	0
APOBR	55911	broad.mit.edu	37	16	28509438	28509438	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr16:28509438C>T	ENST00000564831.1	+	3	3025	c.2992C>T	c.(2992-2994)Cca>Tca	p.P998S	APOBR_ENST00000328423.5_Missense_Mutation_p.P989S|APOBR_ENST00000431282.1_Missense_Mutation_p.P989S	NM_018690.3	NP_061160.3	Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	989					cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						CGTCTCTGTCCCAAGGAGTCG	0.687000													6	18					0	0	0.00116845	0	0
GPRC6A	222545	broad.mit.edu	37	6	117114369	117114369	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:117114369G>A	ENST00000310357.3	-	6	1738	c.1717C>T	c.(1717-1719)Cct>Tct	p.P573S	GPRC6A_ENST00000368549.3_Missense_Mutation_p.P502S|GPRC6A_ENST00000530250.1_Missense_Mutation_p.P398S	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	573					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		CTCCTAACAGGGGCCCAGTGA	0.438000													9	12					0	0	0.000442599	0	0
GNAI2	2771	broad.mit.edu	37	3	50294242	50294242	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:50294242C>T	ENST00000313601.6	+	6	1065	c.681C>T	c.(679-681)gcC>gcT	p.A227A	GNAI2_ENST00000440628.1_Silent_p.A175A|GNAI2_ENST00000491100.1_3'UTR|GNAI2_ENST00000266027.5_Silent_p.A211A|GNAI2_ENST00000422163.1_Silent_p.A211A|GNAI2_ENST00000451956.1_Silent_p.A190A|GNAI2_ENST00000536647.1_Silent_p.A146A	NM_002070.2	NP_002061.1	P04899	GNAI2_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2	227					adenosine receptor signaling pathway|cell cycle|cell division|gamma-aminobutyric acid signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|platelet activation|response to nutrient|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|liver(2)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651)		TCTGCGTAGCCTTGAGCGCCT	0.572000													30	32					0	0	0.001512	0	0
DCAF5	8816	broad.mit.edu	37	14	69522018	69522018	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr14:69522018G>A	ENST00000341516.5	-	9	1532	c.1385C>T	c.(1384-1386)tCg>tTg	p.S462L	DCAF5_ENST00000554215.1_Missense_Mutation_p.S380L|DCAF5_ENST00000557386.1_Missense_Mutation_p.S461L|DCAF5_ENST00000556847.1_Missense_Mutation_p.S380L|DCAF5_ENST00000553293.1_5'UTR	NM_003861.2	NP_003852.1	Q96JK2	DCAF5_HUMAN	DDB1 and CUL4 associated factor 5	462						CUL4 RING ubiquitin ligase complex				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						CAATGAGGCCGAAGACTCTGA	0.612000													15	22					0	0	0.000308642	0	0
DNAH8	1769	broad.mit.edu	37	6	38843575	38843575	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:38843575C>T	ENST00000359357.3	+	51	7432	c.7178C>T	c.(7177-7179)aCc>aTc	p.T2393I	DNAH8_ENST00000449981.2_Missense_Mutation_p.T2610I|DNAH8_ENST00000441566.1_Missense_Mutation_p.T2357I					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TCAAATCAAACCATGTATGAG	0.353000													15	35					0	0	0.000219431	0	0
KIN	22944	broad.mit.edu	37	10	7817756	7817756	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr10:7817756G>A	ENST00000379562.3	-	6	612	c.565C>T	c.(565-567)Cct>Tct	p.P189S	KIN_ENST00000543003.1_Missense_Mutation_p.P83S|KIN_ENST00000535925.1_Missense_Mutation_p.P189S			O60870	KIN17_HUMAN	KIN, antigenic determinant of recA protein homolog (mouse)	189					DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing	cytoplasm|nuclear matrix	double-stranded DNA binding|RNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2)	19						GTAAAAGTAGGGACCTCCTAA	0.313000													12	7					0	0	0.000978159	0	0
FOXJ1	2302	broad.mit.edu	37	17	74136356	74136356	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr17:74136356C>T	ENST00000322957.6	-	2	475	c.121G>A	c.(121-123)Gaa>Aaa	p.E41K		NM_001454.3	NP_001445.2	Q92949	FOXJ1_HUMAN	forkhead box J1	41					actin cytoskeleton organization|activation of Rho GTPase activity|central tolerance induction|cilium assembly|epithelial cell differentiation|establishment of apical/basal cell polarity|heart looping|humoral immune response|left/right pattern formation|leukocyte migration|lung development|negative regulation of B cell activation|negative regulation of germinal center formation|negative regulation of humoral immune response mediated by circulating immunoglobulin|negative regulation of interleukin-6 biosynthetic process|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell differentiation in thymus|negative regulation of T cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of central B cell tolerance induction|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			large_intestine(1)|liver(1)|pancreas(1)|skin(1)	4			LUSC - Lung squamous cell carcinoma(166;0.187)			ATGGAGAATTCCTGCAGCCAC	0.751000													8	14					0	0	0.000442599	0	0
DNAH17	8632	broad.mit.edu	37	17	76482527	76482527	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr17:76482527G>A	ENST00000389840.5	-	45	6962	c.6838C>T	c.(6838-6840)Ctc>Ttc	p.L2280F	DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Missense_Mutation_p.L2289F|RP11-559N14.5_ENST00000585969.1_RNA					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TTGTCAAAGAGGATCATCAGG	0.582000													19	19					0	0	0.00074312	0	0
ADAMTS5	11096	broad.mit.edu	37	21	28338411	28338411	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr21:28338411C>T	ENST00000284987.5	-	1	421	c.300G>A	c.(298-300)ttG>ttA	p.L100L		NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	100					proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						GCTCCAGGTCCAAGAGGAACC	0.682000													16	33					0	0	0.00074312	0	0
SLCO1C1	53919	broad.mit.edu	37	12	20854341	20854341	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:20854341G>A	ENST00000381552.1	+	3	587	c.219G>A	c.(217-219)agG>agA	p.R73R	SLCO1C1_ENST00000545604.1_Silent_p.R73R|SLCO1C1_ENST00000266509.2_Silent_p.R73R|SLCO1C1_ENST00000545102.1_Intron|SLCO1C1_ENST00000540354.1_Silent_p.R73R			Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	73					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					TAGAGAGAAGGTTTGATATCC	0.393000													32	52					0	0	0.00058488	0	0
KNOP1	400506	broad.mit.edu	37	16	19726093	19726093	+	Missense_Mutation	SNP	G	G	A	rs146629491	by1000genomes	TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr16:19726093G>A	ENST00000219837.7	-	2	343	c.265C>T	c.(265-267)Cct>Tct	p.P89S	AC002550.5_ENST00000565916.1_RNA	NM_001012991.2	NP_001013009.2			lysine-rich nucleolar protein 1																		CGTCTAGCAGGCAGCGTGGTC	0.512000													22	44					0	0	0.00047179	0	0
ZIM3	114026	broad.mit.edu	37	19	57648328	57648328	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:57648328T>A	ENST00000269834.1	-	4	539	c.154A>T	c.(154-156)Acc>Tcc	p.T52S		NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	52	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GGTTTGGTGGTTTCCCCTTGT	0.507000													17	43					0	0	0.00121646	0	0
PFAS	5198	broad.mit.edu	37	17	8169316	8169316	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr17:8169316C>T	ENST00000314666.6	+	21	2815	c.2682C>T	c.(2680-2682)atC>atT	p.I894I	PFAS_ENST00000545834.1_Silent_p.I470I	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	894					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CCTTCAGCATCACTCAGGGGC	0.627000													18	22					0	0	0.00074312	0	0
ESRP1	54845	broad.mit.edu	37	8	95653669	95653669	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr8:95653669C>T	ENST00000433389.2	+	1	313	c.123C>T	c.(121-123)gcC>gcT	p.A41A	ESRP1_ENST00000423620.2_Silent_p.A41A|ESRP1_ENST00000358397.5_Silent_p.A41A|ESRP1_ENST00000454170.2_Silent_p.A41A	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	41					mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						TGGATCTGGCCAACAAGAAGG	0.527000													118	170					0	0	0.000781405	0	0
EIF2AK4	440275	broad.mit.edu	37	15	40300332	40300332	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr15:40300332T>C	ENST00000263791.5	+	25	3555	c.3512T>C	c.(3511-3513)tTt>tCt	p.F1171S	EIF2AK4_ENST00000559311.1_3'UTR|EIF2AK4_ENST00000382727.2_Missense_Mutation_p.F1143S	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	1171	Histidyl-tRNA synthetase-like.				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		ACCAACAGCTTTCTGCCCACT	0.418000													64	118					0	0	0.000781405	0	0
DNAH7	56171	broad.mit.edu	37	2	196682525	196682525	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:196682525G>A	ENST00000312428.6	-	50	9420	c.9320C>T	c.(9319-9321)cCt>cTt	p.P3107L		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3107	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CATTCCCTCAGGGGTTATCAT	0.343000													13	21					0	0	0.000151284	0	0
WBP11P1	441818	broad.mit.edu	37	18	30093079	30093079	+	RNA	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr18:30093079C>T	ENST00000567636.1	+	0	1454					NR_003558.1																						GGAGCTCCTCCTGAGACCACC	0.572000													3	6					0	0	6.4e-05	0	0
DSG2	1829	broad.mit.edu	37	18	29126475	29126475	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr18:29126475G>A	ENST00000261590.8	+	15	3335	c.3126G>A	c.(3124-3126)caG>caA	p.Q1042Q	RP11-75N4.2_ENST00000583706.1_RNA	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	1042					cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			CAGTAGGACAGAATGTGACAG	0.498000													30	44					0	0	0.00127121	0	0
GRIN2A	2903	broad.mit.edu	37	16	10032408	10032408	+	Splice_Site	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr16:10032408C>T	ENST00000396573.2	-	4	724	c.414_splice	c.e4-1	p.D139_splice	GRIN2A_ENST00000566670.1_5'UTR|GRIN2A_ENST00000330684.3_Splice_Site_p.D139_splice|GRIN2A_ENST00000396575.2_Splice_Site_p.D139_splice|GRIN2A_ENST00000562109.1_Splice_Site_p.D139_splice|GRIN2A_ENST00000535259.1_5'UTR|GRIN2A_ENST00000404927.2_Splice_Site_p.D139_splice	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	139					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GACGTCGGATCCTGCCAGTGA	0.468000													18	25					0	0	0.00074312	0	0
TNKS	8658	broad.mit.edu	37	8	9588486	9588486	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr8:9588486C>T	ENST00000310430.6	+	14	2114	c.2088C>T	c.(2086-2088)cgC>cgT	p.R696R	TNKS_ENST00000518281.1_Silent_p.R459R	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	696					mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		GCTACAACCGCGTGTCTGTTG	0.507000													22	14					0	0	0.00047179	0	0
RETNLB	84666	broad.mit.edu	37	3	108476003	108476003	+	Silent	SNP	G	G	A	rs79104027		TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:108476003G>A	ENST00000295755.6	-	1	228	c.30C>T	c.(28-30)atC>atT	p.I10I		NM_032579.2	NP_115968.1	Q9BQ08	RETNB_HUMAN	resistin like beta	10					cell proliferation	extracellular region	hormone activity			endometrium(1)|kidney(3)|lung(10)|prostate(1)|skin(1)	16						GGGGGATTAGGATGAGAAGGA	0.512000													7	19					0	0	0.000157383	0	0
TBX20	57057	broad.mit.edu	37	7	35244129	35244129	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr7:35244129C>T	ENST00000408931.3	-	7	1482	c.956G>A	c.(955-957)gGa>gAa	p.G319E		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20	319						nucleus	DNA binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						ATCTTCTTCTCCTCCGTAGGT	0.483000													14	35					0	0	0.000566183	0	0
NLRP8	126205	broad.mit.edu	37	19	56466093	56466093	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:56466093G>A	ENST00000291971.3	+	3	740	c.669G>A	c.(667-669)gtG>gtA	p.V223V	NLRP8_ENST00000590542.1_Silent_p.V223V	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	223	NACHT.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CCAAAAAGGTGATGTTTGAGT	0.532000													15	28					0	0	0.000219431	0	0
CSMD3	114788	broad.mit.edu	37	8	113348946	113348946	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr8:113348946C>T	ENST00000297405.5	-	44	7198	c.6954G>A	c.(6952-6954)ggG>ggA	p.G2318G	CSMD3_ENST00000455883.2_Silent_p.G2214G|CSMD3_ENST00000343508.3_Silent_p.G2278G|CSMD3_ENST00000352409.3_Silent_p.G2248G	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2318	CUB 13.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGATGCCATTCCCAGGGGGTA	0.348000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			52	69					0	0	0.000781405	0	0
CYP4B1	1580	broad.mit.edu	37	1	47276530	47276530	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:47276530C>T	ENST00000271153.4	+	2	267	c.231C>T	c.(229-231)ttC>ttT	p.F77F	CYP4B1_ENST00000371919.4_Silent_p.F77F|CYP4B1_ENST00000371923.4_Silent_p.F77F			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	77					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					CCCACCAGTTCCCGTATGCCC	0.552000													15	27					0	0	0.000308642	0	0
ASAH2	56624	broad.mit.edu	37	10	51974589	51974589	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr10:51974589C>T	ENST00000395526.3	-	8	1053	c.1054G>A	c.(1054-1056)Gat>Aat	p.D352N	ASAH2_ENST00000329428.6_Missense_Mutation_p.D333N|ASAH2_ENST00000443575.1_Missense_Mutation_p.D194N|ASAH2_ENST00000447815.1_Missense_Mutation_p.D352N	NM_019893.2	NP_063946.2	Q9NR71	ASAH2_HUMAN	N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2	352					apoptosis|ceramide metabolic process|signal transduction	integral to membrane|mitochondrion|plasma membrane	ceramidase activity			large_intestine(1)|lung(9)|urinary_tract(1)	11						GGGGACACATCTCCTAGGTTT	0.448000													18	26					0	0	0.00121646	0	0
BRF1	2972	broad.mit.edu	37	14	105718852	105718852	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr14:105718852G>A	ENST00000546474.1	-	5	15495	c.536C>T	c.(535-537)cCg>cTg	p.P179L	BRF1_ENST00000379937.2_Missense_Mutation_p.P152L|BRF1_ENST00000327359.3_Missense_Mutation_p.P64L|BRF1_ENST00000440513.3_Missense_Mutation_p.P64L	NM_001242787.1|NM_001519.3	NP_001229716.1|NP_001510.2	Q92994	TF3B_HUMAN	BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit	179					positive regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription	transcription factor TFIIIB complex	translation initiation factor activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		ACCTATGGCCGGCGCATTGAT	0.532000													13	18					0	0	0.000219431	0	0
TAMM41	132001	broad.mit.edu	37	3	11885596	11885596	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:11885596G>A	ENST00000444133.2	-	2	367	c.225C>T	c.(223-225)ttC>ttT	p.F75F	TAMM41_ENST00000455809.1_Silent_p.F75F|TAMM41_ENST00000273037.5_Silent_p.F75F			Q96BW9	MMP37_HUMAN	TAM41, mitochondrial translocator assembly and maintenance protein, homolog (S. cerevisiae)	75					protein import into mitochondrial matrix	extrinsic to mitochondrial inner membrane											AAACTTTTAGGAAAGAGTAGT	0.418000													15	9					0	0	0.000566183	0	0
KLHL38	340359	broad.mit.edu	37	8	124658106	124658106	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr8:124658106G>A	ENST00000325995.7	-	3	1642	c.1619C>T	c.(1618-1620)tCc>tTc	p.S540F	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	540										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						GAAGGAGGCGGAGTCCTCAAT	0.607000													25	44					0	0	0.000586117	0	0
NETO2	81831	broad.mit.edu	37	16	47162260	47162260	+	Nonsense_Mutation	SNP	G	G	A	rs144229750	by1000genomes	TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr16:47162260G>A	ENST00000562435.1	-	4	841	c.457C>T	c.(457-459)Cga>Tga	p.R153*	NETO2_ENST00000303155.5_Nonsense_Mutation_p.R153*	NM_018092.4	NP_060562.3	Q8NC67	NETO2_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 2	153	CUB 1.					integral to membrane	receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	29		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)				TATTTTGCTCGAAATCCCAGT	0.363000										HNSCC(25;0.065)			32	48					0	0	0.000339439	0	0
OR2M3	127062	broad.mit.edu	37	1	248366832	248366832	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:248366832G>A	ENST00000456743.1	+	1	501	c.463G>A	c.(463-465)Gat>Aat	p.D155N		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	155					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	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;0.0245)			GGGCTCTACGGATGGAATTAT	0.473000													57	154					0	0	0.000781405	0	0
TDRD5	163589	broad.mit.edu	37	1	179631290	179631290	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:179631290G>A	ENST00000444136.1	+	15	2624	c.2374G>A	c.(2374-2376)Gat>Aat	p.D792N	TDRD5_ENST00000367614.1_Missense_Mutation_p.D738N|TDRD5_ENST00000294848.8_Missense_Mutation_p.D738N	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	790					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						CATAGGTGATGATATTTGGGA	0.423000													31	43					0	0	0.00058488	0	0
RYK	6259	broad.mit.edu	37	3	133910819	133910819	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:133910819C>T	ENST00000427044.2	-	9	932	c.322G>A	c.(322-324)Ggt>Agt	p.G108S	RYK_ENST00000296084.4_Missense_Mutation_p.G298S			P34925	RYK_HUMAN	receptor-like tyrosine kinase	294	WIF.				corpus callosum development|positive regulation of MAPKKK cascade|Wnt receptor signaling pathway	cytoplasm|integral to plasma membrane|nucleus	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(1)|ovary(3)	4						GTAGGATAACCTAAGGAGCCA	0.428000													21	35					0	0	0.000720815	0	0
FREM1	158326	broad.mit.edu	37	9	14857659	14857659	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr9:14857659G>A	ENST00000380881.4	-	6	1535	c.720C>T	c.(718-720)ttC>ttT	p.F240F	FREM1_ENST00000380880.3_Silent_p.F240F|FREM1_ENST00000422223.2_Silent_p.F240F			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	240					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CCATCAGCAGGAACTCCTCAC	0.468000													21	18					0	0	0.000229342	0	0
KIAA1644	85352	broad.mit.edu	37	22	44692610	44692610	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr22:44692610C>T	ENST00000381176.4	-	3	355	c.223G>A	c.(223-225)Gag>Aag	p.E75K		NM_001099294.1	NP_001092764.1	Q3SXP7	K1644_HUMAN	KIAA1644	75						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)				GCCTGGAACTCCGTCTCGTTG	0.592000													134	34					0	0	0.000781405	0	0
SMPDL3B	27293	broad.mit.edu	37	1	28271830	28271830	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:28271830C>T	ENST00000373894.3	+	2	340	c.149C>T	c.(148-150)tCc>tTc	p.S50F	SMPDL3B_ENST00000373888.4_Missense_Mutation_p.S50F|SMPDL3B_ENST00000549094.1_Missense_Mutation_p.S50F|SMPDL3B_ENST00000466793.1_3'UTR|RP11-460I13.2_ENST00000448015.1_RNA	NM_014474.2	NP_055289.2	Q92485	ASM3B_HUMAN	sphingomyelin phosphodiesterase, acid-like 3B	50					sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	16		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055)		TCAGCTGGATCCCAGCCAGTG	0.577000													12	26					0	0	0.000978159	0	0
SIGLEC10	89790	broad.mit.edu	37	19	51918465	51918465	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:51918465G>A	ENST00000353836.5	-	7	1521	c.1300C>T	c.(1300-1302)Cag>Tag	p.Q434*	SIGLEC10_ENST00000439889.2_Nonsense_Mutation_p.Q376*|SIGLEC10_ENST00000436984.2_Nonsense_Mutation_p.Q386*|SIGLEC10_ENST00000339313.5_Nonsense_Mutation_p.Q434*|SIGLEC10_ENST00000441969.3_Nonsense_Mutation_p.Q376*|SIGLEC10_ENST00000432469.2_Nonsense_Mutation_p.Q351*|SIGLEC10_ENST00000442846.3_Nonsense_Mutation_p.Q286*|SIGLEC10_ENST00000356298.5_Nonsense_Mutation_p.Q434*|SIGLEC10_ENST00000525998.1_Nonsense_Mutation_p.Q344*	NM_001171157.1|NM_001171158.1|NM_001171159.1	NP_001164628.1|NP_001164629.1|NP_001164630.1	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	434	Ig-like C2-type 3.				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		GAGACGTGCTGGGAGCCCAGT	0.672000													25	23					0	0	0.00127121	0	0
ELSPBP1	64100	broad.mit.edu	37	19	48523119	48523119	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:48523119T>A	ENST00000339841.2	+	5	677	c.499T>A	c.(499-501)Ttc>Atc	p.F167I	ELSPBP1_ENST00000597519.1_Intron	NM_022142.4	NP_071425.3	Q96BH3	ESPB1_HUMAN	epididymal sperm binding protein 1	167	Fibronectin type-II 3.				single fertilization	extracellular region				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(6)	10		all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606)		AAAGTGGAGTTTCTGTGCCGA	0.488000													15	26					0	0	0.000422831	0	0
APMAP	57136	broad.mit.edu	37	20	24959505	24959505	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr20:24959505G>A	ENST00000217456.2	-	3	516	c.226C>T	c.(226-228)Ccg>Tcg	p.P76S	APMAP_ENST00000447138.1_Missense_Mutation_p.P76S	NM_020531.2	NP_065392.1			adipocyte plasma membrane associated protein																		AGCAAGAGCGGGGGTTCTTTG	0.438000													25	33					0	0	0.000586117	0	0
SH3BGRL	6451	broad.mit.edu	37	X	80532515	80532515	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:80532515C>T	ENST00000373212.5	+	2	336	c.78C>T	c.(76-78)ttC>ttT	p.F26F	SH3BGRL_ENST00000481106.1_3'UTR	NM_003022.2	NP_003013.1	O75368	SH3L1_HUMAN	SH3 domain binding glutamic acid-rich protein like	26						cytoplasm|nucleus	SH3 domain binding|SH3/SH2 adaptor activity			endometrium(1)|lung(2)|ovary(1)	4		all_lung(315;5.94e-05)				TGCTTGGTTTCCTAGAAGCCA	0.378000													13	39					0	0	0.000422831	0	0
FEM1A	55527	broad.mit.edu	37	19	4792820	4792820	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:4792820C>T	ENST00000269856.3	+	1	1093	c.954C>T	c.(952-954)gcC>gcT	p.A318A	AC005523.2_ENST00000601192.1_RNA	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN	fem-1 homolog a (C. elegans)	318					regulation of ubiquitin-protein ligase activity	cytoplasm	binding|ubiquitin-protein ligase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		TGCTTGGGGCCCTTAAACACT	0.597000													12	20					0	0	0.00136819	0	0
EFTUD2	9343	broad.mit.edu	37	17	42936451	42936451	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr17:42936451G>A	ENST00000426333.2	-	19	2256	c.1959C>T	c.(1957-1959)atC>atT	p.I653I	EFTUD2_ENST00000402521.3_Silent_p.I618I|EFTUD2_ENST00000592576.1_Silent_p.I643I|EFTUD2_ENST00000591382.1_Silent_p.I653I	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	653						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				GCTGTACCTTGATGTCTATCT	0.522000													22	40					0	0	0.000375601	0	0
PRPS1L1	221823	broad.mit.edu	37	7	18066477	18066477	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr7:18066477G>A	ENST00000506618.2	-	1	1009	c.929C>T	c.(928-930)tCc>tTc	p.S310F		NM_175886.2	NP_787082.1	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like 1	310					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					GAACAGGTAGGAAACAGATTC	0.333000													181	162					0	0	0.000781405	0	0
GBP4	115361	broad.mit.edu	37	1	89652711	89652711	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:89652711G>A	ENST00000355754.6	-	9	1582	c.1485C>T	c.(1483-1485)gcC>gcT	p.A495A		NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	495						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)		CAGCAGTGAGGGCTTTGTCTG	0.527000													33	57					0	0	0.000692331	0	0
GLDN	342035	broad.mit.edu	37	15	51696536	51696536	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr15:51696536G>A	ENST00000335449.6	+	10	1297	c.1241G>A	c.(1240-1242)cGa>cAa	p.R414Q	GLDN_ENST00000396399.2_Missense_Mutation_p.R290Q	NM_181789.2	NP_861454.2	Q6ZMI3	GLDN_HUMAN	gliomedin	414	Olfactomedin-like.				cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		TATTTTGATCGAAAATACCTT	0.373000													62	88					0	0	0.000781405	0	0
MCRS1	10445	broad.mit.edu	37	12	49952686	49952686	+	Silent	SNP	G	G	A	rs144884321		TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:49952686G>A	ENST00000550165.1	-	15	1508	c.1242C>T	c.(1240-1242)atC>atT	p.I414I	MCRS1_ENST00000343810.4_Silent_p.I414I|MCRS1_ENST00000547182.1_5'UTR|MCRS1_ENST00000546244.1_Silent_p.I223I|MCRS1_ENST00000357123.4_Silent_p.I427I			Q96EZ8	MCRS1_HUMAN	microspherule protein 1	414	FHA.				DNA recombination|DNA repair|protein modification process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|MLL1 complex|nucleolus	protein binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)	23						GCCGTCCATCGATGTAGATGG	0.552000													24	37					0	0	0.000586117	0	0
CCDC42	146849	broad.mit.edu	37	17	8644940	8644940	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr17:8644940C>T	ENST00000293845.3	-	4	570	c.344G>A	c.(343-345)cGa>cAa	p.R115Q	CCDC42_ENST00000539522.2_Missense_Mutation_p.R115Q	NM_144681.2	NP_653282.2	Q96M95	CCD42_HUMAN	coiled-coil domain containing 42	115										kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						CTTGAGTTCTCGCTCCTTGTT	0.652000													15	21					0	0	0.000422831	0	0
SYT16	83851	broad.mit.edu	37	14	62462942	62462942	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr14:62462942G>A	ENST00000430451.2	+	1	402	c.205G>A	c.(205-207)Gat>Aat	p.D69N	SYT16_ENST00000446982.2_Missense_Mutation_p.D69N	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	69								p.D69H(2)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		GTACTTTGAAGATGAAGAACA	0.368000													62	108					0	0	0.000781405	0	0
DISP2	85455	broad.mit.edu	37	15	40657471	40657471	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr15:40657471C>T	ENST00000267889.3	+	6	930	c.843C>T	c.(841-843)ccC>ccT	p.P281P		NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	281					smoothened signaling pathway	integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		TCTGTGGCCCCCCTGGTAAGC	0.607000													8	22					0	0	0.000157383	0	0
OR51S1	119692	broad.mit.edu	37	11	4869718	4869718	+	Missense_Mutation	SNP	G	G	A	rs115882083	byFrequency	TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr11:4869718G>A	ENST00000322101.2	-	1	796	c.721C>T	c.(721-723)Cgc>Tgc	p.R241C	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCCTTCCAGCGATCCTCTCTG	0.522000													17	9					0	0	0.000566183	0	0
OR10H3	26532	broad.mit.edu	37	19	15852274	15852274	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:15852274C>T	ENST00000305892.1	+	1	72	c.72C>T	c.(70-72)ctC>ctT	p.L24L		NM_013938.1	NP_039226.1	O60404	O10H3_HUMAN	olfactory receptor, family 10, subfamily H, member 3	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						CCCAGCAGCTCCTGCCTGTCT	0.483000													51	114					0	0	0.000781405	0	0
KCNK1	3775	broad.mit.edu	37	1	233802528	233802528	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:233802528C>T	ENST00000366621.3	+	2	711	c.543C>T	c.(541-543)atC>atT	p.I181I	KCNK1_ENST00000472190.1_3'UTR|KCNK1_ENST00000366620.1_Silent_p.I65I	NM_002245.3	NP_002236.1	O00180	KCNK1_HUMAN	potassium channel, subfamily K, member 1	181						voltage-gated potassium channel complex	inward rectifier potassium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine(DB00908)	TGGTGGCCATCGTCCATGCCG	0.602000													22	58					0	0	0.000229342	0	0
OR2T3	343173	broad.mit.edu	37	1	248637593	248637593	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:248637593G>A	ENST00000359594.2	+	1	967	c.942G>A	c.(940-942)atG>atA	p.M314I		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	314					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGTCAAGAATGAACCAAGAAA	0.488000													37	304					0	0	0.00170553	0	0
CELSR3	1951	broad.mit.edu	37	3	48691417	48691417	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:48691417G>A	ENST00000544264.1	-	8	5452	c.5172C>T	c.(5170-5172)caC>caT	p.H1724H	CELSR3_ENST00000164024.4_Silent_p.H1724H			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1724	EGF-like 4; calcium-binding.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AGTCACAAAAGTGTAGCTTGG	0.597000													14	22					0	0	0.000151284	0	0
SNHG12	85028	broad.mit.edu	37	1	28907611	28907611	+	RNA	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:28907611C>T	ENST00000488745.1	-	0	1013				SNHG12_ENST00000475441.1_RNA|SNHG12_ENST00000531126.1_RNA|SNHG12_ENST00000483436.1_RNA																							CTCACCTGTCCATCATTACTA	0.547000													10	20					0	0	0.000442599	0	0
MUC16	94025	broad.mit.edu	37	19	9072702	9072702	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:9072702A>G	ENST00000397910.4	-	3	14947	c.14744T>C	c.(14743-14745)gTt>gCt	p.V4915A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4917	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						TTTGTAAGGAACAGTGCTTGT	0.522000													35	91					0	0	0.00058488	0	0
PCDHA10	56139	broad.mit.edu	37	5	140236476	140236476	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:140236476C>T	ENST00000307360.5	+	1	843	c.843C>T	c.(841-843)agC>agT	p.S281S	PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Silent_p.S281S|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1														NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTCATTTAGCTCTTTGGTCC	0.358000													22	39					0	0	0.000375601	0	0
LAMA3	3909	broad.mit.edu	37	18	21501454	21501454	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr18:21501454G>A	ENST00000313654.9	+	62	8323	c.8082G>A	c.(8080-8082)tgG>tgA	p.W2694*	LAMA3_ENST00000399516.3_Nonsense_Mutation_p.W2638*|LAMA3_ENST00000587184.1_Nonsense_Mutation_p.W1029*|LAMA3_ENST00000269217.6_Nonsense_Mutation_p.W1085*|LAMA3_ENST00000588770.1_3'UTR	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2694	Laminin G-like 2.				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)	AGCGTATGTGGATAAATGTGG	0.368000													25	52					0	0	0.000720815	0	0
COL3A1	1281	broad.mit.edu	37	2	189862072	189862072	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:189862072G>A	ENST00000304636.3	+	26	1996	c.1826G>A	c.(1825-1827)gGa>gAa	p.G609E	COL3A1_ENST00000317840.5_Missense_Mutation_p.G609E	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	609	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	GGTCCTCCTGGAAAGAATGGT	0.443000													23	30					0	0	0.000586117	0	0
GCM1	8521	broad.mit.edu	37	6	52993715	52993715	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:52993715C>T	ENST00000259803.7	-	6	811	c.600G>A	c.(598-600)ggG>ggA	p.G200G		NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN	glial cells missing homolog 1 (Drosophila)	200						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					AAGGTAAACTCCCCTGACTTT	0.428000													26	62					0	0	0.001512	0	0
HEYL	26508	broad.mit.edu	37	1	40092735	40092735	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:40092735G>A	ENST00000372852.3	-	5	750	c.431C>T	c.(430-432)cCc>cTc	p.P144L	HEYL_ENST00000535435.1_Missense_Mutation_p.P116L	NM_014571.3	NP_055386.1	Q9NQ87	HEYL_HUMAN	hes-related family bHLH transcription factor with YRPW motif-like	144	Orange.				multicellular organismal development|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.1e-18)|Epithelial(16;2.77e-17)|all cancers(16;5.64e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			AATCCGGACGGGGTCTGCACG	0.647000													21	24					0	0	0.000229342	0	0
ZNF19	7567	broad.mit.edu	37	16	71509231	71509231	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr16:71509231G>A	ENST00000288177.5	-	6	1474	c.1219C>T	c.(1219-1221)Cat>Tat	p.H407Y	ZNF19_ENST00000565637.1_Missense_Mutation_p.H365Y|ZNF19_ENST00000565100.2_Missense_Mutation_p.H337Y|ZNF19_ENST00000567225.1_Intron|AC010547.9_ENST00000561908.1_Intron|ZNF19_ENST00000564230.1_Missense_Mutation_p.H407Y	NM_006961.3	NP_008892.2	P17023	ZNF19_HUMAN	zinc finger protein 19	407						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|prostate(1)|stomach(1)	22		Ovarian(137;0.00965)		BRCA - Breast invasive adenocarcinoma(221;0.0161)|Kidney(780;0.0598)		TCTCCAGTATGGATTCTTTGA	0.443000													26	44					0	0	0.00047179	0	0
SCUBE3	222663	broad.mit.edu	37	6	35208186	35208186	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:35208186C>T	ENST00000274938.7	+	9	988	c.988C>T	c.(988-990)Cac>Tac	p.H330Y	SCUBE3_ENST00000394681.1_Missense_Mutation_p.H346Y	NM_152753.2	NP_689966.2	Q8IX30	SCUB3_HUMAN	signal peptide, CUB domain, EGF-like 3	330	EGF-like 8; calcium-binding (Potential).				protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						AACCTGTGACCACATATGTGT	0.488000													14	31					0	0	0.000566183	0	0
CYP4F8	11283	broad.mit.edu	37	19	15739586	15739586	+	RNA	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:15739586C>T	ENST00000441682.2	+	0	1391							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						TGACCCCTTCCGCTTCGACCC	0.597000													11	27					0	0	0.000673444	0	0
PCSK1	5122	broad.mit.edu	37	5	95761620	95761620	+	Silent	SNP	T	T	C			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:95761620T>C	ENST00000311106.3	-	3	537	c.300A>G	c.(298-300)gaA>gaG	p.E100E	PCSK1_ENST00000508626.1_Silent_p.E53E|CTD-2337A12.1_ENST00000502645.2_RNA	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	100					cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CATACTGTTGTTCAGCCCATA	0.378000													17	23					0	0	0.000229342	0	0
CECR2	27443	broad.mit.edu	37	22	18028326	18028326	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr22:18028326C>T	ENST00000262608.8	+	16	3286	c.3286C>T	c.(3286-3288)Ccc>Tcc	p.P1096S	CECR2_ENST00000400573.4_Missense_Mutation_p.P1095S|CECR2_ENST00000400585.2_Missense_Mutation_p.P953S	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	1137					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		GAGCCAGTTTCCCCCGCTGTA	0.607000													10	2					0	0	0.000673444	0	0
RAB3GAP2	25782	broad.mit.edu	37	1	220340851	220340851	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:220340851G>A	ENST00000358951.2	-	25	3089	c.2973C>T	c.(2971-2973)gcC>gcT	p.A991A		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	991					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		CACCTGGTATGGCTCCTAAGT	0.378000													48	115					0	0	0.000781405	0	0
PPP1R3C	5507	broad.mit.edu	37	10	93389689	93389689	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr10:93389689G>A	ENST00000238994.5	-	2	1033	c.949C>T	c.(949-951)Cga>Tga	p.R317*		NM_005398.5	NP_005389.1	Q9UQK1	PPR3C_HUMAN	protein phosphatase 1, regulatory subunit 3C	317							protein serine/threonine phosphatase activity			breast(1)|endometrium(1)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(1)	12		Colorectal(252;0.235)				TTAATTCATCGATAAGAGGCC	0.473000													33	14					0	0	0.00058488	0	0
XIRP1	165904	broad.mit.edu	37	3	39225664	39225664	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:39225664C>T	ENST00000340369.3	-	2	5501	c.5273G>A	c.(5272-5274)aGc>aAc	p.S1758N	XIRP1_ENST00000396251.1_3'UTR|XIRP1_ENST00000421646.1_Missense_Mutation_p.S441N	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1758	Interaction with FLNC.						actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GTGTTGTGAGCTCCCTGGCCC	0.577000													62	79					0	0	0.000781405	0	0
MIR516B2	574485	broad.mit.edu	37	19	54228779	54228779	+	RNA	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:54228779G>A	ENST00000385190.1	+	0	84					NR_030207.1																						TACTCTTTGAGAAAAGCAGCA	0.398000													9	15					0	0	0.000274275	0	0
MATN3	4148	broad.mit.edu	37	2	20202958	20202958	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:20202958C>T	ENST00000407540.3	-	3	942	c.880G>A	c.(880-882)Gga>Aga	p.G294R	AC079145.4_ENST00000416575.1_RNA|MATN3_ENST00000421259.2_Intron	NM_002381.4	NP_002372.1	O15232	MATN3_HUMAN	matrilin 3	294	EGF-like 1.				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAGGTGTATCCTTGGCTACAC	0.542000													19	29					0	0	0.00074312	0	0
HEXDC	284004	broad.mit.edu	37	17	80382276	80382276	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr17:80382276C>T	ENST00000337014.6	+	3	565	c.91C>T	c.(91-93)Cct>Tct	p.P31S	HEXDC_ENST00000327949.9_Missense_Mutation_p.P31S|HEXDC_ENST00000577944.1_Missense_Mutation_p.P31S	NM_173620.2	NP_775891.2	Q8WVB3	HEXDC_HUMAN	hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing	31					carbohydrate metabolic process	cytoplasm|nucleus	beta-N-acetylhexosaminidase activity|cation binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			CCAGATTTTTCCTCTGTTCCG	0.567000													25	41					0	0	0.00127121	0	0
SLC22A7	10864	broad.mit.edu	37	6	43267668	43267668	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:43267668G>A	ENST00000372585.5	+	5	786	c.691G>A	c.(691-693)Gtg>Atg	p.V231M	SLC22A7_ENST00000372589.3_Missense_Mutation_p.V229M|SLC22A7_ENST00000372574.3_Missense_Mutation_p.V229M|SLC22A7_ENST00000487175.1_3'UTR	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	231						basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			GCACCGCACCGTGGCTGGAGT	0.607000													27	43					0	0	0.00127121	0	0
ADRBK2	157	broad.mit.edu	37	22	26118328	26118328	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr22:26118328C>T	ENST00000324198.5	+	21	2170	c.1978C>T	c.(1978-1980)Cgt>Tgt	p.R660C		NM_005160.3	NP_005151.2	P35626	ARBK2_HUMAN	adrenergic, beta, receptor kinase 2	660							ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32					Adenosine triphosphate(DB00171)	GCTATTGCGTCGTGCCCCGAA	0.542000													57	10					0	0	0.000781405	0	0
TSHZ2	128553	broad.mit.edu	37	20	51871554	51871554	+	Silent	SNP	T	T	G			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr20:51871554T>G	ENST00000371497.5	+	2	2444	c.1557T>G	c.(1555-1557)tcT>tcG	p.S519S	TSHZ2_ENST00000603338.2_Silent_p.S516S|TSHZ2_ENST00000329613.6_Silent_p.S516S	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	519					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			TTTTGAAATCTTTGGAAAATA	0.493000													24	38					0	0	0.000586117	0	0
PID1	55022	broad.mit.edu	37	2	229890452	229890452	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:229890452C>T	ENST00000392054.3	-	4	982	c.643G>A	c.(643-645)Gag>Aag	p.E215K	PID1_ENST00000482518.2_Intron|PID1_ENST00000354069.6_Missense_Mutation_p.E217K|PID1_ENST00000392055.3_Missense_Mutation_p.E184K|PID1_ENST00000409462.1_Missense_Mutation_p.E135K	NM_017933.4	NP_060403.3	Q7Z2X4	PCLI1_HUMAN	phosphotyrosine interaction domain containing 1	217	PID.					cytoplasm				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		CTGAAGGCCTCCATCATGGCG	0.562000													32	50					0	0	0.000491102	0	0
MME	4311	broad.mit.edu	37	3	154898211	154898211	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:154898211C>T	ENST00000460393.1	+	23	2336	c.2216C>T	c.(2215-2217)tCa>tTa	p.S739L	MME-AS1_ENST00000484721.1_RNA|MME_ENST00000493237.1_Missense_Mutation_p.S739L|MME_ENST00000360490.2_Missense_Mutation_p.S739L|MME_ENST00000492661.1_Missense_Mutation_p.S739L|MME_ENST00000462745.1_Missense_Mutation_p.S739L	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	739					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	CGCAAGAATTCATACATGAAT	0.428000													53	111					0	0	0.000781405	0	0
TDG	6996	broad.mit.edu	37	12	104376924	104376924	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:104376924C>T	ENST00000392872.3	+	6	859	c.625C>T	c.(625-627)Cgt>Tgt	p.R209C	TDG_ENST00000542036.1_Intron|TDG_ENST00000266775.9_Missense_Mutation_p.R205C|TDG_ENST00000544861.1_Missense_Mutation_p.R66C	NM_003211.4	NP_003202.3	Q13569	TDG_HUMAN	thymine-DNA glycosylase	209					depyrimidination|mismatch repair	nucleoplasm	damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity			large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(302;0.00114)		TAAAGAATTTCGTGAAGGAGG	0.249000								Base excision repair (BER), DNA glycosylases					80	126					0	0	0.000781405	0	0
PCDHA8	56140	broad.mit.edu	37	5	140222071	140222071	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:140222071C>T	ENST00000531613.1	+	1	1165	c.1165C>T	c.(1165-1167)Ctg>Ttg	p.L389L	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000378123.3_Silent_p.L389L|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018911.2	NP_061734.1														NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACCTGCTCCCTGATGCCCCA	0.557000													65	91					0	0	0.000781405	0	0
FOXN3	1112	broad.mit.edu	37	14	89878430	89878430	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr14:89878430G>A	ENST00000345097.4	-	2	507	c.391C>T	c.(391-393)Cca>Tca	p.P131S	FOXN3_ENST00000261302.5_Missense_Mutation_p.P131S|FOXN3_ENST00000555353.1_Missense_Mutation_p.P131S|FOXN3_ENST00000557258.1_Missense_Mutation_p.P131S	NM_001085471.1	NP_001078940.1	O00409	FOXN3_HUMAN	forkhead box N3	131					DNA damage checkpoint|embryo development|G2 phase of mitotic cell cycle|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CGCTTGGTTGGAGAGTCCTCG	0.512000													31	78					0	0	0.00178596	0	0
OR6C68	403284	broad.mit.edu	37	12	55886239	55886239	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:55886239C>T	ENST00000379662.1	+	1	93	c.93C>T	c.(91-93)ttC>ttT	p.F31F	RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|OR6C68_ENST00000548615.1_Silent_p.F26F			A6NDL8	O6C68_HUMAN	olfactory receptor, family 6, subfamily C, member 68	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15						TTCTGCTTTTCATGTTTCTAT	0.413000													47	62					0	0	0.000781405	0	0
ITIH2	3698	broad.mit.edu	37	10	7751130	7751130	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr10:7751130G>A	ENST00000358415.4	+	4	504	c.338G>A	c.(337-339)gGa>gAa	p.G113E	ITIH2_ENST00000379587.4_Missense_Mutation_p.G102E|ITIH2_ENST00000480387.1_Intron	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	113	VIT.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						ATCCCCAAAGGAGCATTCATT	0.453000													19	21					0	0	0.000375601	0	0
IGF2BP3	10643	broad.mit.edu	37	7	23391184	23391184	+	Silent	SNP	T	T	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr7:23391184T>A	ENST00000258729.3	-	6	779	c.423A>T	c.(421-423)ggA>ggT	p.G141G	IGF2BP3_ENST00000491719.1_5'UTR	NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding protein 3	141	RRM 2.				anatomical structure morphogenesis|negative regulation of translation|translation	cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						CTAACTGAAATCCATTCAGTT	0.493000													30	42					0	0	0.000339439	0	0
C9orf96	169436	broad.mit.edu	37	9	136259421	136259421	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr9:136259421C>T	ENST00000371957.3	+	8	694	c.587C>T	c.(586-588)cCc>cTc	p.P196L	C9orf96_ENST00000371955.1_5'UTR	NM_153710.3	NP_714921.3	Q8NE28	SGK71_HUMAN	chromosome 9 open reading frame 96	196	Protein kinase.						ATP binding|protein kinase activity			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		CCAACAGACCCCTTTCGTAAG	0.567000													31	27					0	0	0.00178596	0	0
LOC100130331	100130331	broad.mit.edu	37	1	238090420	238090420	+	RNA	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:238090420C>T	ENST00000450451.1	+	0	1926					NR_027247.2																						TGTGCGTGGCCCTGGAGGAGC	0.567000													8	25					0	0	0.000274275	0	0
OR51L1	119682	broad.mit.edu	37	11	5021068	5021068	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr11:5021068C>T	ENST00000321543.1	+	1	856	c.856C>T	c.(856-858)Ccc>Tcc	p.P286S		NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L, member 1	286					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCTTCTTCTTCCCCCAGTCCT	0.458000													28	10					0	0	0.000339439	0	0
DNAI2	64446	broad.mit.edu	37	17	72305515	72305515	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr17:72305515C>T	ENST00000579490.1	+	9	1641	c.1506C>T	c.(1504-1506)acC>acT	p.T502T	DNAI2_ENST00000582036.1_Silent_p.T445T|DNAI2_ENST00000307504.5_Silent_p.T302T|DNAI2_ENST00000446837.2_Silent_p.T445T|DNAI2_ENST00000311014.6_Silent_p.T445T|RP11-647F2.2_ENST00000585167.1_RNA			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	445					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GCGATCCCACCCTCAGCTTGA	0.612000									Kartagener syndrome				11	24					0	0	0.000219431	0	0
PLXDC2	84898	broad.mit.edu	37	10	20436730	20436730	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr10:20436730C>T	ENST00000377252.3	+	6	1523	c.682C>T	c.(682-684)Cag>Tag	p.Q228*	PLXDC2_ENST00000377238.2_3'UTR|PLXDC2_ENST00000377242.3_Nonsense_Mutation_p.Q179*	NM_032812.7	NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	228						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						ACTTGTGGTCCAGTGGGACCA	0.408000													25	11					0	0	0.000586117	0	0
EZH1	2145	broad.mit.edu	37	17	40865335	40865335	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr17:40865335G>A	ENST00000428826.2	-	11	1217	c.1096C>T	c.(1096-1098)Cac>Tac	p.H366Y	EZH1_ENST00000592743.1_Missense_Mutation_p.H366Y|EZH1_ENST00000585893.1_Missense_Mutation_p.H326Y|EZH1_ENST00000435174.1_Missense_Mutation_p.H227Y|EZH1_ENST00000415827.2_Missense_Mutation_p.H357Y|EZH1_ENST00000590078.1_Missense_Mutation_p.H296Y			Q92800	EZH1_HUMAN	enhancer of zeste homolog 1 (Drosophila)	366					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	chromatin binding|DNA binding			breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		CTGACTATGTGGTGCCTTCTC	0.562000													28	53					0	0	0.000878237	0	0
PTPRT	11122	broad.mit.edu	37	20	40790000	40790000	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr20:40790000C>T	ENST00000373198.3	-	18	2975	c.2740G>A	c.(2740-2742)Gaa>Aaa	p.E914K	PTPRT_ENST00000356100.2_Missense_Mutation_p.E901K|PTPRT_ENST00000373201.1_Missense_Mutation_p.E882K|PTPRT_ENST00000373190.1_Missense_Mutation_p.E891K|PTPRT_ENST00000373184.1_Missense_Mutation_p.E882K|PTPRT_ENST00000373187.1_Missense_Mutation_p.E892K|PTPRT_ENST00000373193.3_Missense_Mutation_p.E895K	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	892	Tyrosine-protein phosphatase 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	p.E914K(2)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				ACCTCGTATTCCTCCTTGAAC	0.557000													21	37					0	0	0.000295444	0	0
ATCAY	85300	broad.mit.edu	37	19	3905499	3905499	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:3905499C>T	ENST00000450849.2	+	4	671	c.204C>T	c.(202-204)atC>atT	p.I68I	ATCAY_ENST00000301260.6_Silent_p.I68I|ATCAY_ENST00000600960.1_Silent_p.I68I|ATCAY_ENST00000398448.3_Silent_p.I74I	NM_033064.4	NP_149053.1	Q86WG3	ATCAY_HUMAN	ataxia, cerebellar, Cayman type	68					transport		protein binding			breast(1)|endometrium(2)|kidney(2)|lung(2)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		CCCCAGAGATCAACATTTCTC	0.507000													10	7					0	0	0.000442599	0	0
BSND	7809	broad.mit.edu	37	1	55474242	55474242	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:55474242G>A	ENST00000371265.4	+	4	1158	c.904G>A	c.(904-906)Gga>Aga	p.G302R		NM_057176.2	NP_476517.1	Q8WZ55	BSND_HUMAN	Bartter syndrome, infantile, with sensorineural deafness (Barttin)	302						basolateral plasma membrane|cytoplasm|integral to plasma membrane|protein complex				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17						GCTGCCAGATGGAGCCGGGGA	0.582000													20	48					0	0	0.000229342	0	0
SCP2D1	140856	broad.mit.edu	37	20	18794514	18794514	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr20:18794514G>A	ENST00000377428.2	+	1	145	c.55G>A	c.(55-57)Gtg>Atg	p.V19M	C20orf78_ENST00000278779.4_Intron	NM_178483.2	NP_848578.1			SCP2 sterol-binding domain containing 1																		TGGACCTCTGGTGGGCCAGTT	0.517000													15	29					0	0	0.000422831	0	0
GLP2R	9340	broad.mit.edu	37	17	9737139	9737139	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr17:9737139C>T	ENST00000262441.5	+	2	718	c.205C>T	c.(205-207)Ctt>Ttt	p.L69F	GLP2R_ENST00000574745.1_5'UTR	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	69					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	AGGATCCCTCCTTGAGGAAAC	0.483000													12	20					0	0	0.000308642	0	0
PRAMEF2	65122	broad.mit.edu	37	1	12921097	12921097	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:12921097G>A	ENST00000240189.2	+	4	975	c.888G>A	c.(886-888)gaG>gaA	p.E296E		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	296										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ACCCCTTGGAGAACTTGGAAT	0.463000													54	74					0	0	0.000781405	0	0
TTC3	7267	broad.mit.edu	37	21	38538400	38538400	+	Missense_Mutation	SNP	C	C	T	rs34414190		TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr21:38538400C>T	ENST00000399017.2	+	33	6631	c.3884C>T	c.(3883-3885)tCc>tTc	p.S1295F	TTC3_ENST00000355666.1_Missense_Mutation_p.S1295F|TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000354749.2_Missense_Mutation_p.S1295F	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1295					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				TCCTGTAATTCCCCCAAACCG	0.448000													36	66					0	0	0.000953801	0	0
CASS4	57091	broad.mit.edu	37	20	55026928	55026928	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr20:55026928C>T	ENST00000371336.3	+	5	897	c.696C>T	c.(694-696)agC>agT	p.S232S	CASS4_ENST00000434344.1_Intron|CASS4_ENST00000360314.3_Silent_p.S232S	NM_001164114.1|NM_020356.3	NP_001157586.1|NP_065089.2	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	232					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						GCGGTTACAGCACATTACCAA	0.502000													15	27					0	0	0.000219431	0	0
C9orf84	158401	broad.mit.edu	37	9	114508622	114508622	+	Splice_Site	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr9:114508622C>T	ENST00000394779.3	-	6	906	c.661_splice	c.e6-1	p.G221_splice	C9orf84_ENST00000374283.5_Splice_Site_p.G324_splice|C9orf84_ENST00000318737.4_Splice_Site_p.G260_splice|C9orf84_ENST00000394777.4_Splice_Site_p.G221_splice|C9orf84_ENST00000374287.3_Splice_Site_p.G260_splice	NM_001080551.1	NP_001074020.1	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	260										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TTCTAACTCTCCTGGAATATA	0.373000													21	12					0	0	0.00121646	0	0
ZNF641	121274	broad.mit.edu	37	12	48737346	48737346	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:48737346G>A	ENST00000544117.2	-	6	1435	c.727C>T	c.(727-729)Ctt>Ttt	p.L243F	ZNF641_ENST00000547026.1_Missense_Mutation_p.L229F|ZNF641_ENST00000301042.3_Missense_Mutation_p.L243F|ZNF641_ENST00000448928.3_Missense_Mutation_p.L220F			Q96N77	ZN641_HUMAN	zinc finger protein 641	243	Transactivation.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	12						TCTTCCTGAAGAAAAGGGGGC	0.532000													10	30					0	0	0.00136819	0	0
SLC16A14	151473	broad.mit.edu	37	2	230910666	230910666	+	Silent	SNP	A	A	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:230910666A>T	ENST00000295190.4	-	4	1634	c.1176T>A	c.(1174-1176)ctT>ctA	p.L392L		NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN	solute carrier family 16, member 14	392						integral to membrane|plasma membrane	symporter activity			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		TACTGAGGACAAGGGTGAAGT	0.478000													13	31					0	0	0.000151284	0	0
CD96	10225	broad.mit.edu	37	3	111263901	111263901	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:111263901G>A	ENST00000352690.4	+	2	310	c.70G>A	c.(70-72)Gaa>Aaa	p.E24K	CD96_ENST00000283285.5_Missense_Mutation_p.E24K|CD96_ENST00000438817.2_Missense_Mutation_p.E24K	NM_005816.4	NP_005807.1	P40200	TACT_HUMAN	CD96 molecule	24					cell adhesion|immune response|regulation of immune response	integral to plasma membrane		p.E24K(1)		central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						AGGAGTTTGGGAAAAAACAGT	0.403000									Opitz Trigonocephaly syndrome				29	63					0	0	0.001512	0	0
PTPN6	5777	broad.mit.edu	37	12	7069157	7069157	+	Splice_Site	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:7069157G>A	ENST00000456013.1	+	12	1671	c.1429_splice	c.e12+1	p.G477_splice	PTPN6_ENST00000539029.1_3'UTR|PTPN6_ENST00000318974.9_Splice_Site_p.G477_splice|PTPN6_ENST00000399448.1_Splice_Site_p.G479_splice|PTPN6_ENST00000447931.2_Splice_Site_p.G438_splice	NM_080549.3	NP_536859.1	P29350	PTN6_HUMAN	protein tyrosine phosphatase, non-receptor type 6	477	Tyrosine-protein phosphatase.				apoptosis|cell junction assembly|G-protein coupled receptor protein signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol|membrane|nucleus	protein binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						CTCCACCAAGGGTGAGGGGCA	0.657000													27	51					0	0	0.00127121	0	0
PPAP2C	8612	broad.mit.edu	37	19	287583	287583	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:287583G>A	ENST00000269812.3	-	3	422	c.373C>T	c.(373-375)Ccc>Tcc	p.P125S	PPAP2C_ENST00000327790.3_Missense_Mutation_p.P146S|PPAP2C_ENST00000434325.2_Missense_Mutation_p.P69S	NM_003712.2|NM_177526.1	NP_003703.1|NP_803545.1	O43688	LPP2_HUMAN	phosphatidic acid phosphatase type 2C	125					sphingolipid metabolic process	integral to membrane|plasma membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|sphingosine-1-phosphate phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(1)|lung(1)|skin(1)	5		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGAAGTTGGGCCTCAGACGC	0.602000													29	54					0	0	0.00178596	0	0
CDH22	64405	broad.mit.edu	37	20	44839064	44839064	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr20:44839064C>T	ENST00000372262.3	-	6	1568	c.1168G>A	c.(1168-1170)Gag>Aag	p.E390K	CDH22_ENST00000537909.1_Missense_Mutation_p.E390K|CDH22_ENST00000474438.1_5'UTR	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	390	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				TCGGGGGGCTCGTCCACGTCG	0.736000													4	4					0	0	0.00116845	0	0
NUDT7	283927	broad.mit.edu	37	16	77775602	77775602	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr16:77775602C>T	ENST00000268533.5	+	4	541	c.472C>T	c.(472-474)Cat>Tat	p.H158Y	NUDT7_ENST00000564031.1_3'UTR|NUDT7_ENST00000564085.1_3'UTR|RP11-264M12.2_ENST00000563690.1_RNA|NUDT7_ENST00000563839.1_3'UTR|NUDT7_ENST00000437314.3_Missense_Mutation_p.H105Y	NM_001105663.2	NP_001099133.1	P0C024	NUDT7_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 7	158	Nudix hydrolase.				nucleoside diphosphate metabolic process	peroxisome	hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides|magnesium ion binding|manganese ion binding			breast(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|skin(1)	18						TCCACAGGTCCATGACCAGCA	0.468000													36	60					0	0	0.000374591	0	0
NAV3	89795	broad.mit.edu	37	12	78400636	78400636	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:78400636C>T	ENST00000397909.2	+	8	1491	c.1318C>T	c.(1318-1320)Ccc>Tcc	p.P440S	NAV3_ENST00000266692.7_Missense_Mutation_p.P440S|NAV3_ENST00000536525.2_Missense_Mutation_p.P440S|NAV3_ENST00000228327.6_Missense_Mutation_p.P440S			Q8IVL0	NAV3_HUMAN	neuron navigator 3	440						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AAATAGCAGTCCCAAAGTGTC	0.423000										HNSCC(70;0.22)			36	64					0	0	0.000814825	0	0
UPRT	139596	broad.mit.edu	37	X	74494208	74494208	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:74494208G>A	ENST00000373379.1	+	1	284	c.119G>A	c.(118-120)gGg>gAg	p.G40E	UPRT_ENST00000373383.4_Missense_Mutation_p.G40E|UPRT_ENST00000531704.1_3'UTR			Q96BW1	UPP_HUMAN	uracil phosphoribosyltransferase (FUR1) homolog (S. cerevisiae)	40					nucleoside metabolic process	cytoplasm|nucleus				breast(1)|endometrium(7)|kidney(2)|large_intestine(4)|lung(4)	18						GACCACGCAGGGGGAAACAGA	0.642000													7	23					0	0	8.12818e-05	0	0
FMNL2	114793	broad.mit.edu	37	2	153405583	153405583	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:153405583G>A	ENST00000288670.9	+	4	698	c.331G>A	c.(331-333)Gaa>Aaa	p.E111K		NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN	formin-like 2	111	GBD/FH3.				actin cytoskeleton organization	cytoplasm	actin binding|Rho GTPase binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						AAGAGAACTGGAAATTTCTTT	0.343000													9	19					0	0	0.000673444	0	0
ZNF679	168417	broad.mit.edu	37	7	63726795	63726795	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr7:63726795C>T	ENST00000421025.1	+	5	1053	c.784C>T	c.(784-786)Cat>Tat	p.H262Y	ZNF679_ENST00000255746.4_Missense_Mutation_p.H262Y	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	262					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						TAGGAGAATTCATACTGGAGA	0.418000													8	14					0	0	0.000157383	0	0
ITK	3702	broad.mit.edu	37	5	156641224	156641224	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:156641224G>T	ENST00000422843.3	+	4	500	c.348G>T	c.(346-348)ttG>ttT	p.L116F	CTB-4E7.1_ENST00000519375.1_RNA	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	116					cellular defense response|intracellular signal transduction|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ATAACAGTTTGGTGCCTAAAT	0.443000			T	SYK	peripheral T-cell lymphoma								10	327					0.000978159	0.00545416	0.000978159	1	0
ROR2	4920	broad.mit.edu	37	9	94488852	94488852	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr9:94488852C>T	ENST00000375708.3	-	8	1555	c.1357G>A	c.(1357-1359)Gaa>Aaa	p.E453K	ROR2_ENST00000375715.1_Missense_Mutation_p.E313K|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	453					negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						AGGGGCATTTCCATGTCTTGG	0.537000													17	16					0	0	0.000229342	0	0
TNXB	7148	broad.mit.edu	37	6	32063453	32063453	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:32063453C>T	ENST00000375244.3	-	3	2378	c.2177G>A	c.(2176-2178)cGa>cAa	p.R726Q	TNXB_ENST00000375247.2_Missense_Mutation_p.R726Q|TNXB_ENST00000479795.1_Missense_Mutation_p.R726Q			P22105	TENX_HUMAN	tenascin XB	726	EGF-like 19.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						ACACTCTCCTCGGCCACGGCA	0.637000													83	135					0	0	0.000781405	0	0
CDCA7	83879	broad.mit.edu	37	2	174229542	174229542	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:174229542G>A	ENST00000306721.3	+	6	822	c.719G>A	c.(718-720)aGg>aAg	p.R240K	CDCA7_ENST00000347703.3_Missense_Mutation_p.R161K|CDCA7_ENST00000392567.2_Missense_Mutation_p.R161K|CDCA7_ENST00000410101.3_Missense_Mutation_p.R196K|CDCA7_ENST00000410019.3_Missense_Mutation_p.R119K	NM_031942.4	NP_114148.3	Q9BWT1	CDCA7_HUMAN	cell division cycle associated 7	161					regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.116)			AGACCGCGAAGGCGTACATTC	0.488000													24	56					0	0	0.00178596	0	0
ALG13	79868	broad.mit.edu	37	X	110951410	110951410	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:110951410C>T	ENST00000394780.3	+	4	551	c.539C>T	c.(538-540)cCt>cTt	p.P180L	ALG13_ENST00000251943.4_Missense_Mutation_p.P76L|ALG13-AS1_ENST00000430794.1_RNA	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	180					dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity			endometrium(2)|lung(10)|skin(1)	13						GCTACCCATCCTACCTGCACC	0.498000													11	37					0	0	0.00136819	0	0
PCDH1	5097	broad.mit.edu	37	5	141248667	141248667	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:141248667G>A	ENST00000287008.3	-	2	517	c.370C>T	c.(370-372)Cag>Tag	p.Q124*	PCDH1_ENST00000456271.1_Nonsense_Mutation_p.Q124*|PCDH1_ENST00000394536.3_Nonsense_Mutation_p.Q124*|PCDH1_ENST00000536585.1_Nonsense_Mutation_p.Q102*|PCDH1_ENST00000503492.1_Nonsense_Mutation_p.Q124*	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	protocadherin 1	124	Cadherin 1.				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		AGCTGGTTCTGGCATTCACGG	0.587000													14	27					0	0	0.000219431	0	0
IQGAP1	8826	broad.mit.edu	37	15	90984750	90984750	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr15:90984750T>C	ENST00000268182.5	+	8	786	c.662T>C	c.(661-663)gTt>gCt	p.V221A	IQGAP1_ENST00000560738.1_Intron	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	221					energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			CATGCTGCTGTTATTGCTATT	0.348000													29	34					0	0	0.00178596	0	0
DNAH5	1767	broad.mit.edu	37	5	13841889	13841889	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:13841889G>A	ENST00000265104.4	-	33	5500	c.5396C>T	c.(5395-5397)tCa>tTa	p.S1799L		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1799	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AAGATGCAATGAGGACTGAGA	0.438000									Kartagener syndrome				27	39					0	0	0.001512	0	0
MAATS1	89876	broad.mit.edu	37	3	119462887	119462887	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:119462887C>T	ENST00000273390.5	+	14	1823	c.1746C>T	c.(1744-1746)ttC>ttT	p.F582F		NM_033364.3	NP_203528.2			MYCBP-associated, testis expressed 1																		TGTTTGACTTCCTGTCCAAAG	0.507000													19	42					0	0	0.00121646	0	0
HIF1A	3091	broad.mit.edu	37	14	62205038	62205038	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr14:62205038C>A	ENST00000394997.1	+	10	1751	c.1486C>A	c.(1486-1488)Cag>Aag	p.Q496K	HIF1A_ENST00000337138.4_Missense_Mutation_p.Q495K|RP11-618G20.1_ENST00000555937.1_RNA|HIF1A_ENST00000323441.6_Missense_Mutation_p.Q495K|HIF1A_ENST00000539097.1_Missense_Mutation_p.Q519K|HIF1A-AS2_ENST00000554254.1_lincRNA|HIF1A_ENST00000557538.1_Missense_Mutation_p.Q436K			Q16665	HIF1A_HUMAN	hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	495	ODD.				cellular response to hypoxia|collagen metabolic process|connective tissue replacement involved in inflammatory response wound healing|elastin metabolic process|epithelial to mesenchymal transition|oxygen homeostasis|positive regulation of chemokine production|positive regulation of epithelial cell migration|positive regulation of hormone biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|regulation of transforming growth factor-beta2 production	cytoplasm|nucleolus|transcription factor complex	histone acetyltransferase binding|Hsp90 protein binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4)	23				OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)		GCCCCAGATTCAGGATCAGAC	0.418000													89	155					2.18907e-53	1.24591e-52	0.000781405	1	0
TNFAIP8L3	388121	broad.mit.edu	37	15	51350308	51350308	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr15:51350308A>T	ENST00000327536.5	-	3	748	c.649T>A	c.(649-651)Ttc>Atc	p.F217I	RP11-108K3.1_ENST00000559909.1_lincRNA	NM_207381.2	NP_997264.2	Q5GJ75	TP8L3_HUMAN	tumor necrosis factor, alpha-induced protein 8-like 3	217										endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	11				all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338)		TTCCTATCGAAGGTGTATTCC	0.547000													18	40					0	0	0.000566183	0	0
CSNK1A1L	122011	broad.mit.edu	37	13	37678626	37678626	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr13:37678626G>A	ENST00000379800.3	-	1	1177	c.768C>T	c.(766-768)ttC>ttT	p.F256F		NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like	256	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity	p.F256F(2)		NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		AGTACATGGCGAATTCTGCAG	0.433000													43	48					0	0	0.000437636	0	0
SERPINA5	5104	broad.mit.edu	37	14	95053711	95053711	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr14:95053711C>T	ENST00000329597.7	+	3	222	c.12C>T	c.(10-12)ttC>ttT	p.F4F	SERPINA5_ENST00000553780.1_Silent_p.F4F|SERPINA5_ENST00000554866.1_Silent_p.F4F|SERPINA5_ENST00000554276.1_Silent_p.F4F	NM_000624.4	NP_000615.3	P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	4					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	TGCAGCTCTTCCTCCTCTTGT	0.587000													29	64					0	0	0.00058488	0	0
GFRAL	389400	broad.mit.edu	37	6	55216368	55216368	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:55216368G>A	ENST00000340465.2	+	5	774	c.688G>A	c.(688-690)Gat>Aat	p.D230N		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	230						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CTGCCAAAATGATGAATTATG	0.423000													11	36					0	0	0.000978159	0	0
CLPSL1	340204	broad.mit.edu	37	6	35754864	35754864	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:35754864G>A	ENST00000373861.5	+	2	283	c.189G>A	c.(187-189)gaG>gaA	p.E63E	CLPSL1_ENST00000542261.1_Silent_p.E62E			A2RUU4	CF127_HUMAN	colipase-like 1	63					digestion|lipid catabolic process	extracellular region	enzyme activator activity										ACTGCGCGGAGAAGGGGTCCG	0.662000													8	47					0	0	0.000442599	0	0
TLR2	7097	broad.mit.edu	37	4	154626372	154626372	+	Silent	SNP	G	G	C			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr4:154626372G>C	ENST00000260010.6	+	1	3721	c.2313G>C	c.(2311-2313)cgG>cgC	p.R771R		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	771	TIR.				cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)				AGGCTCAGCGGGAAGGATTTT	0.473000													27	16					0	0	0.00127121	0	0
SLC9A7	84679	broad.mit.edu	37	X	46521567	46521567	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:46521567C>T	ENST00000328306.4	-	7	950	c.925G>A	c.(925-927)Gga>Aga	p.G309R		NM_001257291.1|NM_032591.2	NP_001244220.1|NP_115980.1	Q96T83	SL9A7_HUMAN	solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7	309					regulation of pH	Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network	potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	21						GTGTTCAGTCCCGCTGGCTGG	0.408000													6	20					0	0	0.000157383	0	0
OR2G2	81470	broad.mit.edu	37	1	247752385	247752385	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:247752385G>A	ENST00000320065.1	+	1	724	c.724G>A	c.(724-726)Ggg>Agg	p.G242R	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	242					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G242W(1)		endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GAAAGCATTCGGGACCTGCTT	0.502000													32	52					0	0	0.00178596	0	0
PKD1L1	168507	broad.mit.edu	37	7	47894550	47894550	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr7:47894550C>T	ENST00000289672.2	-	30	4839	c.4789G>A	c.(4789-4791)Gaa>Aaa	p.E1597K		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1597					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TGTAGAGATTCCTGGGGGTTT	0.393000													33	78					0	0	0.000491102	0	0
OR52E4	390081	broad.mit.edu	37	11	5906158	5906158	+	Silent	SNP	G	G	A	rs145588560		TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr11:5906158G>A	ENST00000316987.2	+	1	658	c.636G>A	c.(634-636)gtG>gtA	p.V212V		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	212					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTGTGGATGTGATCTTAATTG	0.453000													28	22					0	0	0.00148497	0	0
TMPRSS12	283471	broad.mit.edu	37	12	51281090	51281090	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:51281090A>G	ENST00000398458.3	+	5	873	c.841A>G	c.(841-843)Aga>Gga	p.R281G	TMPRSS12_ENST00000551456.1_3'UTR	NM_182559.2	NP_872365.1	Q86WS5	TMPSC_HUMAN	transmembrane (C-terminal) protease, serine 12	281	Peptidase S1.				proteolysis	integral to membrane	serine-type endopeptidase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	18						AGAATATAAAAGATTTTTTGT	0.408000													17	33					0	0	0.000422831	0	0
MAST3	23031	broad.mit.edu	37	19	18233517	18233517	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:18233517C>A	ENST00000262811.5	+	5	268	c.268C>A	c.(268-270)Cca>Aca	p.P90T		NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	90							ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						CGCGTCTCTCCCATCTTCCGG	0.612000													4	7					0.000602214	0.00336804	0.000602214	1	0
MCM2	4171	broad.mit.edu	37	3	127336175	127336175	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:127336175C>T	ENST00000265056.7	+	11	2071	c.1827C>T	c.(1825-1827)atC>atT	p.I609I		NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	609	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	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(2)|stomach(1)	6						AACAGAGCATCTCCATCTCGA	0.582000													14	20					0	0	0.000958276	0	0
CACNA1B	774	broad.mit.edu	37	9	140991008	140991008	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr9:140991008C>T	ENST00000277549.5	+	37	5318	c.2749C>T	c.(2749-2751)Cct>Tct	p.P917S	CACNA1B_ENST00000277551.2_Missense_Mutation_p.P1723S|CACNA1B_ENST00000371355.4_Missense_Mutation_p.P1724S|CACNA1B_ENST00000371357.1_Missense_Mutation_p.P1722S|CACNA1B_ENST00000371363.1_Missense_Mutation_p.P1721S|CACNA1B_ENST00000371365.2_Missense_Mutation_p.P87S|CACNA1B_ENST00000371372.1_Missense_Mutation_p.P1723S			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1723					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CATCCTAGGTCCTCACCACTT	0.557000													27	9					0	0	0.001512	0	0
COL9A1	1297	broad.mit.edu	37	6	71004230	71004230	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:71004230G>A	ENST00000357250.6	-	5	494	c.336C>T	c.(334-336)tcC>tcT	p.S112S	COL9A1_ENST00000370496.3_Silent_p.S112S	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	112	Nonhelical region (NC4).|TSP N-terminal.				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						TCGTCAAGAAGGAGTATTCTT	0.393000													42	84					0	0	0.000781405	0	0
HCN2	610	broad.mit.edu	37	19	614010	614010	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:614010C>T	ENST00000251287.2	+	7	2037	c.1984C>T	c.(1984-1986)Cgc>Tgc	p.R662C		NM_001194.3	NP_001185.3	Q9UL51	HCN2_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 2	662					cell-cell signaling|muscle contraction	voltage-gated potassium channel complex	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			endometrium(5)|lung(4)	9		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGCCTGGACCGCATCGGTGA	0.706000													4	14					0	0	0.00024832	0	0
F5	2153	broad.mit.edu	37	1	169511239	169511239	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:169511239C>T	ENST00000367796.3	-	13	3305	c.3104G>A	c.(3103-3105)cGa>cAa	p.R1035Q	F5_ENST00000367797.3_Missense_Mutation_p.R1030Q			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1030	B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TTTCTTTTTTCGTGTCTTAAT	0.408000													57	116					0	0	0.000781405	0	0
PLEKHA6	22874	broad.mit.edu	37	1	204197962	204197962	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:204197962G>A	ENST00000272203.3	-	20	3095	c.2779C>T	c.(2779-2781)Cct>Tct	p.P927S	PLEKHA6_ENST00000414478.1_Missense_Mutation_p.P947S	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	927										breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			TACCGTTCAGGGATGAGGACT	0.567000													13	43					0	0	0.000151284	0	0
CACNA1E	777	broad.mit.edu	37	1	181727957	181727957	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:181727957G>A	ENST00000526775.1	+	31	4666	c.4501G>A	c.(4501-4503)Gtg>Atg	p.V1501M	CACNA1E_ENST00000357570.5_Missense_Mutation_p.V1471M|CACNA1E_ENST00000358338.5_Missense_Mutation_p.V1452M|CACNA1E_ENST00000367567.4_Missense_Mutation_p.V1127M|CACNA1E_ENST00000360108.3_Missense_Mutation_p.V1501M|CACNA1E_ENST00000367570.1_Missense_Mutation_p.V1520M|CACNA1E_ENST00000367573.2_Missense_Mutation_p.V1520M	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1520					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CTTCACCATGGTGTTTTCCCT	0.473000													36	49					0	0	0.000680045	0	0
RPH3A	22895	broad.mit.edu	37	12	113328703	113328703	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:113328703C>T	ENST00000389385.4	+	19	2167	c.1670C>T	c.(1669-1671)tCc>tTc	p.S557F	RPH3A_ENST00000548866.1_Missense_Mutation_p.S508F|RPH3A_ENST00000551052.1_Missense_Mutation_p.S553F|RPH3A_ENST00000543106.2_Missense_Mutation_p.S557F|RPH3A_ENST00000447659.2_Missense_Mutation_p.S508F|RPH3A_ENST00000415485.3_Missense_Mutation_p.S557F|RPH3A_ENST00000420983.2_Missense_Mutation_p.S557F|RPH3A_ENST00000549913.2_3'UTR	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A homolog (mouse)	557	C2 2.				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		ATCCTGGTCTCCCTCATGTAC	0.602000													7	12					0	0	0.000157383	0	0
HTR3B	9177	broad.mit.edu	37	11	113780017	113780017	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr11:113780017G>A	ENST00000537778.1	+	1	304	c.20G>A	c.(19-21)gGa>gAa	p.G7E	HTR3B_ENST00000260191.2_Splice_Site_p.G18_splice			O95264	5HT3B_HUMAN	5-hydroxytryptamine (serotonin) receptor 3B, ionotropic	18					synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)		TATTTTCCAGGAATTCTAGCC	0.388000													32	15					0	0	0.000409698	0	0
FAM101A	144347	broad.mit.edu	37	12	124796378	124796378	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:124796378C>T	ENST00000389727.3	+	2	222	c.222C>T	c.(220-222)ctC>ctT	p.L74L	RP11-522N14.1_ENST00000540762.1_RNA|FAM101A_ENST00000338359.4_5'UTR|FAM101A_ENST00000546355.1_5'UTR|FAM101A_ENST00000324038.3_5'UTR			Q6ZTI6	F101A_HUMAN	family with sequence similarity 101, member A	74										endometrium(1)|kidney(1)|lung(1)	3	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;2.38e-05)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-05)|all cancers(50;0.000361)|BRCA - Breast invasive adenocarcinoma(302;0.059)		CCTCCCAACTCCCAAATCCCC	0.642000													7	4					0	0	8.12818e-05	0	0
PGM1	5236	broad.mit.edu	37	1	64095113	64095113	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:64095113C>T	ENST00000371083.4	+	2	686	c.318C>T	c.(316-318)atC>atT	p.I106I	PGM1_ENST00000371084.3_Silent_p.I88I|PGM1_ENST00000540265.1_5'UTR	NM_001172818.1	NP_001166289.1	P36871	PGM1_HUMAN	phosphoglucomutase 1	88					cellular calcium ion homeostasis|galactose catabolic process|glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						GCTTGGTTATCGGACAGAATG	0.473000													46	72					0	0	0.000781405	0	0
ARHGAP6	395	broad.mit.edu	37	X	11160413	11160413	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:11160413C>T	ENST00000337414.4	-	12	3069	c.2197G>A	c.(2197-2199)Gat>Aat	p.D733N	ARHGAP6_ENST00000380736.1_Missense_Mutation_p.D530N|ARHGAP6_ENST00000303025.6_Missense_Mutation_p.D530N|ARHGAP6_ENST00000534860.1_Missense_Mutation_p.D558N	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	733					actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CCCCAGATATCGAAAGGCTCC	0.313000													40	85					0	0	0.000781405	0	0
MXRA5	25878	broad.mit.edu	37	X	3238523	3238523	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:3238523T>A	ENST00000217939.6	-	5	5357	c.5203A>T	c.(5203-5205)Aac>Tac	p.N1735Y		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1735						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				AGAGTCTTGTTGGTAAAGAAA	0.463000													12	24					0	0	0.000978159	0	0
NRK	203447	broad.mit.edu	37	X	105150462	105150462	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:105150462C>T	ENST00000428173.2	+	11	1204	c.901C>T	c.(901-903)Cgt>Tgt	p.R301C	NRK_ENST00000243300.9_Missense_Mutation_p.R301C			Q7Z2Y5	NRK_HUMAN	Nik related kinase	301	Protein kinase.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						TTTCCTGTTTCGTCCTACTTC	0.363000										HNSCC(51;0.14)			8	12					0	0	0.000157383	0	0
CCDC146	57639	broad.mit.edu	37	7	76908140	76908140	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr7:76908140A>T	ENST00000285871.4	+	12	1639	c.1512A>T	c.(1510-1512)aaA>aaT	p.K504N	CCDC146_ENST00000431197.1_Missense_Mutation_p.K218N|CCDC146_ENST00000415740.2_3'UTR	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	504	Poly-Lys.									breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				AGAAGAAAAAATGTGAAATTT	0.299000													24	44					0	0	0.000375601	0	0
GRIK1	2897	broad.mit.edu	37	21	30949456	30949456	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr21:30949456C>T	ENST00000399914.1	-	13	2434	c.1913G>A	c.(1912-1914)gGg>gAg	p.G638E	GRIK1_ENST00000389125.3_Missense_Mutation_p.G638E|GRIK1_ENST00000399909.1_Missense_Mutation_p.G638E|GRIK1_ENST00000399913.1_Missense_Mutation_p.G653E|GRIK1_ENST00000309434.7_Missense_Mutation_p.G655E|GRIK1_ENST00000389124.2_Missense_Mutation_p.G653E|GRIK1_ENST00000327783.4_Missense_Mutation_p.G653E|GRIK1_ENST00000399907.1_Missense_Mutation_p.G653E|GRIK1_ENST00000535441.1_Missense_Mutation_p.G655E			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	653					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	CCACCATATCCCTCCAACTAT	0.463000													23	64					0	0	0.00047179	0	0
RELB	5971	broad.mit.edu	37	19	45515487	45515487	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:45515487C>T	ENST00000221452.8	+	4	607	c.457C>T	c.(457-459)Ctt>Ttt	p.L153F	RELB_ENST00000505236.1_Missense_Mutation_p.L150F|RELB_ENST00000540120.1_Missense_Mutation_p.L153F	NM_006509.3	NP_006500.2	Q01201	RELB_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog B	153	RHD.					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1)	12		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)		CGGCAGCATCCTTGGGGAGAG	0.756000													17	33					0	0	0.00152264	0	0
HEY2	23493	broad.mit.edu	37	6	126080650	126080650	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:126080650G>A	ENST00000368364.3	+	5	913	c.716G>A	c.(715-717)cGa>cAa	p.R239Q	HEY2_ENST00000368365.1_Missense_Mutation_p.R193Q	NM_012259.2	NP_036391.1	Q9UBP5	HEY2_HUMAN	hes-related family bHLH transcription factor with YRPW motif 2	239					negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent	transcriptional repressor complex	histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding			breast(1)|large_intestine(7)|lung(5)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		TCAGCCCTCCGAATGCCATCC	0.657000													55	105					0	0	0.000781405	0	0
HTT	3064	broad.mit.edu	37	4	3129175	3129175	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr4:3129175C>T	ENST00000355072.5	+	12	1732	c.1587C>T	c.(1585-1587)atC>atT	p.I529I		NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	529		Cleavage; by apopain (Potential).			establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		AGGAGGATATCTTGAGCCACA	0.612000													14	35					0	0	0.000219431	0	0
DGKG	1608	broad.mit.edu	37	3	185969597	185969597	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:185969597C>T	ENST00000265022.3	-	19	2251	c.1712G>A	c.(1711-1713)gGg>gAg	p.G571E	DGKG_ENST00000544847.1_Missense_Mutation_p.G512E|DGKG_ENST00000382164.4_Missense_Mutation_p.G532E|DGKG_ENST00000344484.4_Missense_Mutation_p.G546E	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	571					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	GACCTGGTCCCCGTTTTCCAC	0.507000													44	64					0	0	0.000509022	0	0
ALDH18A1	5832	broad.mit.edu	37	10	97388166	97388166	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr10:97388166C>T	ENST00000371224.2	-	8	1029	c.892G>A	c.(892-894)Gga>Aga	p.G298R	ALDH18A1_ENST00000371221.3_Missense_Mutation_p.G296R	NM_002860.3	NP_002851.2	P54886	P5CS_HUMAN	aldehyde dehydrogenase 18 family, member A1	298	Glutamate 5-kinase.				proline biosynthetic process	mitochondrial inner membrane	ATP binding|glutamate 5-kinase activity|glutamate-5-semialdehyde dehydrogenase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(9)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Colorectal(252;0.0402)		Epithelial(162;9.1e-07)|all cancers(201;2.55e-05)	L-Glutamic Acid(DB00142)	GACTTGGTTCCAAATGTCACA	0.413000													51	48					0	0	0.000781405	0	0
IDS	3423	broad.mit.edu	37	X	148584859	148584859	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:148584859C>T	ENST00000340855.6	-	3	610	c.401G>A	c.(400-402)gGa>gAa	p.G134E	IDS_ENST00000370443.4_Missense_Mutation_p.G134E|IDS_ENST00000370441.4_Missense_Mutation_p.G134E|IDS_ENST00000428056.2_Missense_Mutation_p.G134E|IDS_ENST00000490775.1_5'UTR|AF011889.5_ENST00000422081.1_RNA|IDS_ENST00000541269.1_Intron	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	P22304	IDS_HUMAN	iduronate 2-sulfatase	134			G -> R (in MPS2; severe form).			lysosome	iduronate-2-sulfatase activity|metal ion binding			NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					AAAGACTTTTCCCACCGACAT	0.537000													9	21					0	0	0.000978159	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147914545	147914545	+	Missense_Mutation	SNP	A	A	C			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr7:147914545A>C	ENST00000361727.3	+	19	3692	c.3176A>C	c.(3175-3177)aAg>aCg	p.K1059T	CNTNAP2_ENST00000538075.1_Missense_Mutation_p.K118T	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1059	Laminin G-like 4.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			AGCACCACCAAGGCGCCCTGC	0.587000										HNSCC(39;0.1)			52	55					0	0	0.000781405	0	0
GCOM1	145781	broad.mit.edu	37	15	57910263	57910263	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr15:57910263G>A	ENST00000574161.1	+	3	314	c.195G>A	c.(193-195)agG>agA	p.R65R	GCOM1_ENST00000380561.2_Silent_p.R65R|GCOM1_ENST00000380568.3_Silent_p.R65R|GCOM1_ENST00000587652.1_Silent_p.R65R|MYZAP_ENST00000267853.5_Silent_p.R65R|MYZAP_ENST00000380565.4_Silent_p.R65R|GCOM1_ENST00000396180.1_Silent_p.R65R|GCOM1_ENST00000380569.2_Silent_p.R65R|GCOM1_ENST00000380560.2_Silent_p.R65R|POLR2M_ENST00000380563.2_5'UTR|GCOM1_ENST00000572390.1_Silent_p.R65R	NM_001018100.3	NP_001018110.1	P0CAP1	GCOM1_HUMAN		65					intracellular signal transduction	extrinsic to internal side of plasma membrane|I band				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						AACCTACCAGGAAACTTCCTC	0.423000													18	34					0	0	0.000295444	0	0
ZFP57	346171	broad.mit.edu	37	6	29640508	29640508	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:29640508C>T	ENST00000376883.1	-	6	1731	c.1320G>A	c.(1318-1320)agG>agA	p.R440R	ZFP57_ENST00000376881.3_Silent_p.R440R|ZFP57_ENST00000488757.1_Silent_p.R460R			Q9NU63	ZFP57_HUMAN	ZFP57 zinc finger protein	376					DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding	p.R440S(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44						CTTTATAGCCCCTCCAGTGAT	0.557000													21	47					0	0	0.00152264	0	0
KIAA1804	84451	broad.mit.edu	37	1	233512253	233512253	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:233512253C>T	ENST00000366624.3	+	8	2165	c.1904C>T	c.(1903-1905)tCa>tTa	p.S635L	MLK4_ENST00000366622.1_Missense_Mutation_p.S81L	NM_032435.2	NP_115811.2																					CCCTTGGCTTCATTGTTTGTG	0.413000													11	34					0	0	0.000151284	0	0
MAEL	84944	broad.mit.edu	37	1	166990344	166990344	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:166990344G>A	ENST00000367872.4	+	11	1308	c.1064G>A	c.(1063-1065)gGa>gAa	p.G355E	MAEL_ENST00000367870.2_Missense_Mutation_p.G324E|MAEL_ENST00000491055.1_3'UTR	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	355					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						GGGAGTTCAGGATTCTCTCAT	0.358000													27	34					0	0	0.00178596	0	0
DPYS	1807	broad.mit.edu	37	8	105405064	105405064	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr8:105405064G>A	ENST00000351513.2	-	8	1523	c.1391C>T	c.(1390-1392)cCt>cTt	p.P464L	DPYS_ENST00000521601.1_Intron	NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	464					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			TGGTTTTCGAGGAATAAACTT	0.493000													45	106					0	0	0.000589545	0	0
RP1L1	94137	broad.mit.edu	37	8	10469042	10469042	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr8:10469042G>A	ENST00000382483.3	-	4	2789	c.2566C>T	c.(2566-2568)Ccg>Tcg	p.P856S		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	856					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)		CCCCTGGGCGGGGTGGGACAG	0.726000													5	2					0	0	0.00116845	0	0
MCL1	4170	broad.mit.edu	37	1	150551359	150551359	+	Silent	SNP	A	A	G			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:150551359A>G	ENST00000369026.2	-	1	707	c.648T>C	c.(646-648)gtT>gtC	p.V216V	MCL1_ENST00000307940.3_Silent_p.V216V	NM_001197320.1|NM_021960.4	NP_001184249.1|NP_068779.1	Q07820	MCL1_HUMAN	myeloid cell leukemia sequence 1 (BCL2-related)	216					anti-apoptosis|apoptosis|cell fate determination|cellular homeostasis|multicellular organismal development|response to cytokine stimulus	integral to membrane|mitochondrial outer membrane|nucleoplasm	BH3 domain binding|protein binding|protein channel activity|protein heterodimerization activity			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)	8	all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CGCCATCCCCAACCCGTCGTA	0.622000													13	35					0	0	0.000151284	0	0
PSMB11	122706	broad.mit.edu	37	14	23512187	23512187	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr14:23512187C>T	ENST00000408907.2	+	1	812	c.753C>T	c.(751-753)ctC>ctT	p.L251L		NM_001099780.1	NP_001093250.1	A5LHX3	PSB11_HUMAN	proteasome (prosome, macropain) subunit, beta type, 11	251					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			endometrium(1)|kidney(2)|lung(4)	7	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00643)		TACAGAAGCTCCTGGAGCCGG	0.602000													7	15					0	0	8.12818e-05	0	0
ZSCAN1	284312	broad.mit.edu	37	19	58549234	58549234	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:58549234C>T	ENST00000282326.1	+	3	277	c.30C>T	c.(28-30)tcC>tcT	p.S10S	ZSCAN1_ENST00000391700.1_Silent_p.S10S|ZSCAN1_ENST00000601162.1_Silent_p.S10S	NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	10					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CCCCTGCCTCCCCCAGACGCC	0.677000													5	1					0	0	0.000602214	0	0
C1orf87	127795	broad.mit.edu	37	1	60463316	60463316	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:60463316T>C	ENST00000371201.3	-	11	1552	c.1445A>G	c.(1444-1446)gAa>gGa	p.E482G	C1orf87_ENST00000395552.1_Missense_Mutation_p.E116G|C1orf87_ENST00000486478.1_5'UTR|C1orf87_ENST00000450089.2_Missense_Mutation_p.E253G	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87	482							calcium ion binding			breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						GAGGGCATTTTCCAGCTTCCT	0.463000													28	47					0	0	0.000339439	0	0
BRWD3	254065	broad.mit.edu	37	X	79937548	79937548	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:79937548G>A	ENST00000373275.4	-	39	4659	c.4443C>T	c.(4441-4443)gaC>gaT	p.D1481D	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1481										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						AGGTATTCTGGTCATTTTTAG	0.363000													30	60					0	0	0.00111076	0	0
FFAR3	2865	broad.mit.edu	37	19	35850524	35850524	+	Silent	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:35850524C>T	ENST00000327809.4	+	2	933	c.732C>T	c.(730-732)tcC>tcT	p.S244S	FFAR3_ENST00000594310.1_Silent_p.S244S	NM_005304.3	NP_005295.1	O14843	FFAR3_HUMAN	free fatty acid receptor 3	244						integral to plasma membrane	G-protein coupled receptor activity|lipid binding			endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			ACAACGTGTCCCATGTCGTGG	0.622000													32	87					0	0	0.000953801	0	0
CYP2C18	1562	broad.mit.edu	37	10	96480239	96480239	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr10:96480239G>A	ENST00000285979.6	+	6	1105	c.906G>A	c.(904-906)acG>acA	p.T302T	CYP2C19_ENST00000464755.1_3'UTR|CYP2C18_ENST00000339022.5_Silent_p.T243T	NM_000772.2	NP_000763.1			cytochrome P450, family 2, subfamily C, polypeptide 18											NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)		CAGAGACAACGAGCACCACTC	0.423000													25	19					0	0	0.00106085	0	0
AHNAK2	113146	broad.mit.edu	37	14	105412741	105412741	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr14:105412741G>A	ENST00000333244.5	-	7	9166	c.9047C>T	c.(9046-9048)tCc>tTc	p.S3016F	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3016						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCCCTGCATGGAGGGGAGGCT	0.632000													60	109					0	0	0.000781405	0	0
LMOD2	442721	broad.mit.edu	37	7	123302262	123302262	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr7:123302262A>T	ENST00000458573.2	+	2	779	c.622A>T	c.(622-624)Agc>Tgc	p.S208C	LMOD2_ENST00000456238.2_Intron	NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	208						cytoskeleton	actin binding|tropomyosin binding										CAAGATTAAAAGCAATGACCC	0.473000													10	37					0	0	0.000673444	0	0
GPR98	84059	broad.mit.edu	37	5	89990185	89990185	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:89990185T>A	ENST00000405460.2	+	33	7708	c.7612T>A	c.(7612-7614)Ttt>Att	p.F2538I		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2538	Calx-beta 17.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GGATGAGAGTTTTCTAATTTC	0.418000													24	50					0	0	0.00047179	0	0
BRAP	8315	broad.mit.edu	37	12	112121036	112121036	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:112121036G>A	ENST00000419234.4	-	2	351	c.158C>T	c.(157-159)cCa>cTa	p.P53L	BRAP_ENST00000327551.6_Missense_Mutation_p.P23L	NM_006768.3	NP_006759.3	Q7Z569	BRAP_HUMAN	BRCA1 associated protein	53					MAPKKK cascade|negative regulation of signal transduction|Ras protein signal transduction	cytoplasm|ubiquitin ligase complex	identical protein binding|nuclear localization sequence binding|nucleotide binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	20						TTTCTCTCCTGGTGACTTGCC	0.438000													56	98					0	0	0.000781405	0	0
EXOC6	54536	broad.mit.edu	37	10	94594495	94594495	+	Translation_Start_Site	SNP	G	G	A	rs77134517	byFrequency	TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr10:94594495G>A	ENST00000371552.4	+	0	29				EXOC6_ENST00000371547.4_Silent_p.A21A	NM_001013848.2	NP_001013870.1	Q8TAG9	EXOC6_HUMAN	exocyst complex component 6						protein transport|vesicle docking involved in exocytosis	exocyst				cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26		Colorectal(252;0.123)				CCTGTCGAGCGATGTTGGAAG	0.383000													104	50					0	0	0.000781405	0	0
SCNN1A	6337	broad.mit.edu	37	12	6464564	6464564	+	Silent	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:6464564G>A	ENST00000358945.3	-	5	1457	c.1017C>T	c.(1015-1017)ttC>ttT	p.F339F	SCNN1A_ENST00000543768.1_Silent_p.F362F|SCNN1A_ENST00000396966.2_Silent_p.F339F|SCNN1A_ENST00000228916.2_Silent_p.F339F|SCNN1A_ENST00000360168.3_Silent_p.F398F|SCNN1A_ENST00000540037.1_Silent_p.F39F|SCNN1A_ENST00000538979.1_5'UTR			P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	339					excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	GCAGGGGAATGAAGTCATTCT	0.572000													6	13					0	0	8.12818e-05	0	0
KIAA1468	57614	broad.mit.edu	37	18	59895551	59895551	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr18:59895551C>T	ENST00000256858.6	+	8	1416	c.1168C>T	c.(1168-1170)Ctc>Ttc	p.L390F	KIAA1468_ENST00000398130.2_Missense_Mutation_p.L390F			Q9P260	K1468_HUMAN	KIAA1468	390							binding			autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				AATGGACTTCCTCAAAAATGA	0.403000													32	67					0	0	0.00058488	0	0
FHL1	2273	broad.mit.edu	37	X	135288748	135288748	+	Splice_Site	SNP	G	G	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:135288748G>A	ENST00000543669.1	+	2	867		c.e2+1		FHL1_ENST00000370690.3_Splice_Site|FHL1_ENST00000394153.2_Splice_Site|FHL1_ENST00000370676.3_Splice_Site|FHL1_ENST00000370683.1_Splice_Site|FHL1_ENST00000477080.1_Splice_Site|FHL1_ENST00000394155.2_Splice_Site|FHL1_ENST00000345434.3_Splice_Site|FHL1_ENST00000535737.1_Splice_Site|FHL1_ENST00000539015.1_Splice_Site	NM_001159704.1	NP_001153176.1	Q13642	FHL1_HUMAN	four and a half LIM domains 1						cell differentiation|cell growth|muscle organ development|organ morphogenesis	cytosol|nucleus|plasma membrane	protein binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(192;0.000127)					GGACTCCAAGGTAACGGGCAT	0.557000													40	71					0	0	0.000589545	0	0
GNAI3	2773	broad.mit.edu	37	1	110116536	110116537	+	Frame_Shift_Ins	INS	-	-	TA			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:110116536_110116537insTA	ENST00000369851.4	+	3	290_291	c.180_181insTA	c.(178-183)ggattcfs	p.F61fs		NM_006496.3	NP_006487.1	P08754	GNAI3_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3	61					cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity			NS(1)|endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.046)|Colorectal(144;0.119)|Epithelial(280;0.139)|all cancers(265;0.147)|LUSC - Lung squamous cell carcinoma(189;0.237)		ATGAGGATGGCTATTCAGAGGA	0.342													14	42	---	---	---	---					
NDUFAF4	29078	broad.mit.edu	37	6	97339122	97339122	+	Frame_Shift_Del	DEL	A	A	-			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:97339122delA	ENST00000316149.7	-	3	465	c.386delT	c.(385-387)tcfs	p.F129fs	NDUFAF4_ENST00000489477.1_5'UTR	NM_014165.3	NP_054884.1	Q9P032	NDUF4_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 4	129					mitochondrial respiratory chain complex I assembly	mitochondrial membrane	calmodulin binding	p.F129S(1)		large_intestine(5)|lung(3)|ovary(1)|skin(1)	10						GGTTTCTGGGAAAAGCTTATG	0.333													24	60	---	---	---	---					
ARIH1	25820	broad.mit.edu	37	15	72837239	72837241	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr15:72837239_72837241delGAT	ENST00000379887.4	+	3	836_838	c.522_524delGAT	c.(520-525)cag>ca	p.QM174del		NM_005744.3	NP_005735.2	Q9Y4X5	ARI1_HUMAN	ariadne RBR E3 ubiquitin protein ligase 1	174					ubiquitin-dependent protein catabolic process	cytoplasm|ubiquitin ligase complex	ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	14						GAACACGCCAGATGAATACAAGG	0.414													19	62	---	---	---	---					
SYNM	23336	broad.mit.edu	37	15	99645432	99645432	+	Frame_Shift_Del	DEL	C	C	-			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr15:99645432delC	ENST00000336292.6	+	1	147	c.27delC	c.(25-27)ggfs	p.G9fs	SYNM_ENST00000561323.1_3'UTR|RP11-654A16.3_ENST00000559468.1_RNA|SYNM_ENST00000328642.7_Frame_Shift_Del_p.G9fs|SYNM_ENST00000560674.1_Intron	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN	synemin, intermediate filament protein	9	Head.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						TGCAGACGGGCCCCGAGAAGG	0.687													2	4	---	---	---	---					
MINK1	50488	broad.mit.edu	37	17	4790980	4790982	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr17:4790980_4790982delGCA	ENST00000355280.6	+	12	1321_1323	c.1125_1127delGCA	c.(1123-1128)ctg>ct	p.LQ375del	MINK1_ENST00000347992.7_In_Frame_Del_p.LQ375del|MINK1_ENST00000453408.3_In_Frame_Del_p.LQ375del	NM_001024937.3|NM_015716.4|NM_153827.4	NP_001020108.1|NP_056531.1|NP_722549.2	Q8N4C8	MINK1_HUMAN	misshapen-like kinase 1	375					JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						agcagcagctgcagcagcagcag	0.606													2	4	---	---	---	---					
