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
VPS13D	55187	broad.mit.edu	37	1	12414081	12414081	+	Missense_Mutation	SNP	A	A	G			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr1:12414081A>G	uc001atv.3	+	46	9623	c.9482A>G	c.(9481-9483)aAc>aGc	p.N3161S	VPS13D_uc001atw.3_Missense_Mutation_p.N3136S|VPS13D_uc001atx.3_Missense_Mutation_p.N2348S	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	3160					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		ATGCCCTCAAACATATTTTCT	0.363												
HSPB7	27129	broad.mit.edu	37	1	16342135	16342135	+	Silent	SNP	T	T	C			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr1:16342135T>C	uc001axr.2	-	2	1295	c.732A>G	c.(730-732)gcA>gcG	p.A244A	HSPB7_uc001axo.2_Silent_p.A151A|HSPB7_uc001axp.2_Silent_p.A234A|HSPB7_uc001axq.2_Silent_p.A243A|HSPB7_uc001axs.2_Silent_p.A226A	NM_014424	NP_055239	Q9UBY9	HSPB7_HUMAN	Homo sapiens heat shock 27kDa protein family, member 7 (cardiovascular) (HSPB7), mRNA.	151					regulation of heart contraction|response to heat|response to unfolded protein	Cajal body	protein C-terminus binding			breast(1)|large_intestine(1)|liver(1)|lung(6)|skin(1)	10		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;8.21e-08)|COAD - Colon adenocarcinoma(227;5.5e-06)|BRCA - Breast invasive adenocarcinoma(304;9.08e-05)|Kidney(64;0.000162)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		GGTGACGCCGTGCCCGGATAG	0.642												
EPHA8	2046	broad.mit.edu	37	1	22927421	22927421	+	Silent	SNP	C	C	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr1:22927421C>T	uc001bfx.1	+	14	2694	c.2569C>T	c.(2569-2571)Ctg>Ttg	p.L857L		NM_020526	NP_065387	P29322	EPHA8_HUMAN	Homo sapiens EPH receptor A8 (EPHA8), transcript variant 1, mRNA.	857	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GGGGTACCGCCTGCCCGCACC	0.697												
PHACTR4	65979	broad.mit.edu	37	1	28818258	28818258	+	Nonsense_Mutation	SNP	C	C	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr1:28818258C>T	uc001bpy.3	+	10	2240	c.2005C>T	c.(2005-2007)Cga>Tga	p.R669*	PHACTR4_uc001bpv.1_Non-coding_Transcript|PHACTR4_uc001bpw.3_Nonsense_Mutation_p.R659*|PHACTR4_uc001bpx.3_Nonsense_Mutation_p.R643*	NM_023923	NP_076412	Q8IZ21	PHAR4_HUMAN	Homo sapiens phosphatase and actin regulator 4 (PHACTR4), transcript variant 2, mRNA.	659							actin binding|protein phosphatase inhibitor activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		TTATGACCGGCGAGCCGACAA	0.453												
IPP	3652	broad.mit.edu	37	1	46165793	46165793	+	Missense_Mutation	SNP	G	G	C	rs147854966		TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr1:46165793G>C	uc001cou.3	-	8	1867	c.1600C>G	c.(1600-1602)Ctt>Gtt	p.L534V	IPP_uc001cos.4_Missense_Mutation_p.L534V	NM_005897	NP_005888	Q9Y573	IPP_HUMAN	Homo sapiens intracisternal A particle-promoted polypeptide (IPP), transcript variant 1, mRNA.	534						actin cytoskeleton|cytoplasm	actin binding	p.G533C(1)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					ACATACAGAAGACCATTGACT	0.423												
GADD45A	1647	broad.mit.edu	37	1	68152267	68152267	+	Silent	SNP	G	G	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr1:68152267G>T	uc001ddz.2	+	2	699	c.381G>T	c.(379-381)gtG>gtT	p.V127V	GADD45A_uc009wbb.2_Silent_p.V93V|GADD45A_uc009wbc.2_Intron|GADD45A_uc009wbd.2_Intron	NM_001924	NP_001915	P24522	GA45A_HUMAN	Homo sapiens growth arrest and DNA-damage-inducible, alpha (GADD45A), transcript variant 1, mRNA.	127					apoptosis|cell cycle arrest|cellular response to ionizing radiation|cellular response to mechanical stimulus|DNA repair|positive regulation of reactive oxygen species metabolic process|regulation of cyclin-dependent protein kinase activity|signal transduction in response to DNA damage	nucleus	protein binding			lung(2)|ovary(2)	4						GCGTGCTGGTGACGGTAAGGG	0.706												
ABCA4	24	broad.mit.edu	37	1	94522271	94522271	+	Silent	SNP	G	G	A			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr1:94522271G>A	uc001dqh.3	-	14	2372	c.2268C>T	c.(2266-2268)tcC>tcT	p.S756S	ABCA4_uc010otn.1_Intron	NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	756					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GACTGGCCTTGGAGAAGAAGG	0.542												
CGN	57530	broad.mit.edu	37	1	151491406	151491406	+	Silent	SNP	C	C	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr1:151491406C>T	uc009wmw.3	+	1	555	c.411C>T	c.(409-411)tcC>tcT	p.S137S		NM_020770	NP_065821	Q9P2M7	CING_HUMAN	Homo sapiens cingulin (CGN), mRNA.	131	Head.|Interacts with ZO-2.					myosin complex|tight junction	actin binding|motor activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			GTTCCCACTCCCAGGCCTCAC	0.592												
S100A14	57402	broad.mit.edu	37	1	153587428	153587428	+	Missense_Mutation	SNP	C	C	G			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr1:153587428C>G	uc001fce.3	-	3	364	c.248G>C	c.(247-249)aGt>aCt	p.S83T	S100A16_uc001fcd.1_5'Flank	NM_020672	NP_065723	Q9HCY8	S10AE_HUMAN	Homo sapiens S100 calcium binding protein A14 (S100A14), mRNA.	83					calcium ion homeostasis|defense response to bacterium|positive regulation of granulocyte chemotaxis|positive regulation of monocyte chemotaxis|response to lipopolysaccharide|toll-like receptor 4 signaling pathway	cell junction|microtubule cytoskeleton|perinuclear region of cytoplasm	calcium ion binding|chemokine receptor binding			kidney(2)|large_intestine(1)|lung(1)	4	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTCCCAGAAACTCCTGAACTC	0.557												
NUP210L	91181	broad.mit.edu	37	1	153973356	153973356	+	Missense_Mutation	SNP	C	C	A			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr1:153973356C>A	uc001fdw.3	-	36	5434	c.5362G>T	c.(5362-5364)Gct>Tct	p.A1788S	NUP210L_uc009woq.3_Missense_Mutation_p.A697S|NUP210L_uc010peh.2_Intron	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA.	1788						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TCTTTCATAGCCCTCACTACC	0.408												
PYHIN1	149628	broad.mit.edu	37	1	158914677	158914677	+	Missense_Mutation	SNP	A	A	G			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr1:158914677A>G	uc001ftb.3	+	6	1454	c.1204A>G	c.(1204-1206)Aca>Gca	p.T402A	PYHIN1_uc001ftc.3_Missense_Mutation_p.T393A|PYHIN1_uc001ftd.3_Missense_Mutation_p.T402A|PYHIN1_uc001fte.3_Missense_Mutation_p.T393A	NM_152501	NP_689714	Q6K0P9	IFIX_HUMAN	Homo sapiens pyrin and HIN domain family, member 1 (PYHIN1), transcript variant 1, mRNA.	402					cell cycle	nuclear speck				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					ACAGAAAAATACAAACCAGAG	0.373												
AXDND1	126859	broad.mit.edu	37	1	179364322	179364322	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr1:179364322C>T	uc001gmo.3	+	10	1481	c.1094C>T	c.(1093-1095)gCg>gTg	p.A365V	AXDND1_uc001gmn.2_Missense_Mutation_p.A153V|AXDND1_uc010pnl.2_Non-coding_Transcript|AXDND1_uc009wxg.3_Non-coding_Transcript|AXDND1_uc021pfj.1_Missense_Mutation_p.A323V	NM_144696	NP_653297	Q5T1B0	AXDN1_HUMAN	Homo sapiens axonemal dynein light chain domain containing 1 (AXDND1), mRNA.	365										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						CTTTTAAATGCGGAAAAGAAT	0.353												
HMCN1	83872	broad.mit.edu	37	1	186134268	186134268	+	Silent	SNP	C	C	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr1:186134268C>T	uc001grq.1	+	97	15511	c.15282C>T	c.(15280-15282)tcC>tcT	p.S5094S	MIR548F1_uc021pgf.1_Intron|HMCN1_uc001grs.1_Silent_p.S663S	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	5094					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						AGTGCCCCTCCGGGTTTACCT	0.408												
FCAMR	83953	broad.mit.edu	37	1	207140441	207140441	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr1:207140441G>A	uc001hfa.4	-	2	625	c.125C>T	c.(124-126)gCg>gTg	p.A42V	FCAMR_uc001hfb.3_Missense_Mutation_p.A42V|FCAMR_uc009xca.2_Missense_Mutation_p.A42V|FCAMR_uc021pig.1_5'Flank	NM_001170631	NP_001164102	Q8WWV6	FCAMR_HUMAN	Homo sapiens Fc receptor, IgA, IgM, high affinity (FCAMR), transcript variant 3, mRNA.	341						integral to membrane|plasma membrane	receptor activity	p.A42A(1)		endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(1)	11						TTTCCATCCCGCCCTCCTGCT	0.527												
USH2A	7399	broad.mit.edu	37	1	215848243	215848243	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr1:215848243G>A	uc001hku.1	-	62	13397	c.13010C>T	c.(13009-13011)aCg>aTg	p.T4337M		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	4337	Fibronectin type-III 28.		T -> M (in USH2A).		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)		TCCTCCACTCGTGCAGGCTTG	0.498										HNSCC(13;0.011)		
USH2A	7399	broad.mit.edu	37	1	216538373	216538373	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr1:216538373G>A	uc001hku.1	-	3	1093	c.706C>T	c.(706-708)Cct>Tct	p.P236S	USH2A_uc001hkv.3_Missense_Mutation_p.P236S	NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	236					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)		GCATTGAAAGGTGTATGATCC	0.353										HNSCC(13;0.011)		
OR2T33	391195	broad.mit.edu	37	1	248436840	248436840	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr1:248436840C>T	uc010pzi.2	-	0	277	c.277G>A	c.(277-279)Gct>Act	p.A93T		NM_001004695	NP_001004695	Q8NG76	O2T33_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 33 (OR2T33), mRNA.	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R92S(1)		NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|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;0.0245)			CCACAGCCAGCGCGGGAGATG	0.577												
GPRIN2	9721	broad.mit.edu	37	10	46999114	46999114	+	Silent	SNP	T	T	G			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr10:46999114T>G	uc001jec.3	+	2	369	c.234T>G	c.(232-234)tcT>tcG	p.S78S	GPRIN2_uc021ppt.1_Silent_p.S78S	NM_014696	NP_055511	O60269	GRIN2_HUMAN	Homo sapiens G protein regulated inducer of neurite outgrowth 2 (GPRIN2), mRNA.	78										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						CACGGGCCTCTGGCCCCAAGG	0.706												
PTEN	5728	broad.mit.edu	37	10	89624265	89624267	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr10:89624265_89624267delAAG	uc001kfb.3	+	0	1071_1073	c.39_41delAAG	c.(37-42)aaaagg>aag	p.R15del	PTEN_uc021pvw.1_Non-coding_Transcript|KLLN_uc009xti.3_5'Flank	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	15	Phosphatase tensin-type.		R -> S (in glioma).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(13)|p.R14G(4)|p.R15I(4)|p.R15S(3)|p.R14fs*29(2)|p.R15K(2)|p.R14M(2)|p.I8_R14>LRLICIF(2)|p.R14fs*10(2)|p.R14_D22del(2)|p.R15fs*23(1)|p.R14fs*26(1)|p.R15fs*28(1)|p.R15fs*9(1)|p.K13del(1)|p.N12fs*6(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GCAGAAACAAAAGGAGATATCAA	0.488		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)		
CPT1A	1374	broad.mit.edu	37	11	68549243	68549243	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr11:68549243C>T	uc001oog.4	-	10	1518	c.1348G>A	c.(1348-1350)Gac>Aac	p.D450N	CPT1A_uc001oof.4_Missense_Mutation_p.D450N	NM_001876	NP_001867	P50416	CPT1A_HUMAN	Homo sapiens carnitine palmitoyltransferase 1A (liver) (CPT1A), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	450					carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	CGGTACCTGTCGTAACATCGG	0.473												
FAT3	120114	broad.mit.edu	37	11	92539549	92539549	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr11:92539549C>T	uc001pdj.4	+	10	9132	c.9115C>T	c.(9115-9117)Cct>Tct	p.P3039S		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	3039	Cadherin 28.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGCATTACTTCCTGAAGACAT	0.358										TCGA Ovarian(4;0.039)		
CD163L1	283316	broad.mit.edu	37	12	7559424	7559424	+	Missense_Mutation	SNP	A	A	G			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr12:7559424A>G	uc010sge.2	-	4	847	c.821T>C	c.(820-822)cTt>cCt	p.L274P	CD163L1_uc001qsy.3_Missense_Mutation_p.L264P	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	264	SRCR 3.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TCCACCTACAAGCCTTAGTTC	0.448												
AICDA	57379	broad.mit.edu	37	12	8759510	8759510	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr12:8759510C>T	uc001qur.2	-	1	186	c.107G>A	c.(106-108)cGt>cAt	p.R36H	AICDA_uc001qup.1_Missense_Mutation_p.R31H|AICDA_uc001quq.1_Missense_Mutation_p.R31H|AICDA_uc009zgd.1_Non-coding_Transcript	NM_020661	NP_065712	Q9GZX7	AICDA_HUMAN	Homo sapiens activation-induced cytidine deaminase (AICDA), mRNA.	36					B cell differentiation|DNA demethylation|mRNA processing|negative regulation of methylation-dependent chromatin silencing	cytoplasm	cytidine deaminase activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)	16	Lung SC(5;0.184)					AGCACTGTCACGCCTCTTCAC	0.463												
SENP1	29843	broad.mit.edu	37	12	48465464	48465464	+	Silent	SNP	C	C	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr12:48465464C>T	uc001rqx.3	-	8	1427	c.981G>A	c.(979-981)caG>caA	p.Q327Q	SENP1_uc001rqw.3_Silent_p.Q327Q|SENP1_uc001rqy.3_Silent_p.Q128Q|SENP1_uc001rqz.3_Silent_p.Q128Q|SENP1_uc009zkx.3_Silent_p.Q327Q	NM_014554	NP_055369	Q9P0U3	SENP1_HUMAN	Homo sapiens SUMO1/sentrin specific peptidase 1 (SENP1), mRNA.	327					activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis	cytoplasm|nucleus	endopeptidase activity|SUMO-specific protease activity			large_intestine(3)|lung(1)|pancreas(2)|stomach(1)	7		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)				GAGTTGGAGTCTGGGAATCTT	0.358												
DGKA	1606	broad.mit.edu	37	12	56336026	56336026	+	Nonsense_Mutation	SNP	C	C	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr12:56336026C>T	uc001sij.3	+	16	1669	c.1405C>T	c.(1405-1407)Cga>Tga	p.R469*	DGKA_uc001sih.1_Nonsense_Mutation_p.R357*|DGKA_uc001sii.1_Nonsense_Mutation_p.R327*|DGKA_uc009zod.1_Nonsense_Mutation_p.R388*|DGKA_uc001sik.3_Nonsense_Mutation_p.R469*|DGKA_uc001sil.3_Nonsense_Mutation_p.R469*|DGKA_uc001sim.3_Nonsense_Mutation_p.R469*|DGKA_uc001sin.3_Nonsense_Mutation_p.R469*|DGKA_uc009zof.3_Nonsense_Mutation_p.R115*|DGKA_uc001sio.3_Nonsense_Mutation_p.R211*	NM_001345	NP_963848	P23743	DGKA_HUMAN	Homo sapiens diacylglycerol kinase, alpha 80kDa (DGKA), transcript variant 3, mRNA.	469	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	TGATCTGGCTCGATGCCTAAG	0.498												
SSH1	54434	broad.mit.edu	37	12	109194640	109194640	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr12:109194640T>C	uc001tnm.3	-	11	1151	c.1064A>G	c.(1063-1065)tAt>tGt	p.Y355C	SSH1_uc001tnl.3_Missense_Mutation_p.Y43C|SSH1_uc010sxg.2_Missense_Mutation_p.Y366C|SSH1_uc001tnn.4_Missense_Mutation_p.Y355C	NM_018984	NP_061857	Q8WYL5	SSH1_HUMAN	Homo sapiens slingshot homolog 1 (Drosophila) (SSH1), transcript variant 1, mRNA.	355	Tyrosine-protein phosphatase.				actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GATGTTATGATATGCAAATAA	0.363												
VSIG10	54621	broad.mit.edu	37	12	118509166	118509166	+	Missense_Mutation	SNP	T	T	G			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr12:118509166T>G	uc001tws.3	-	5	1662	c.1328A>C	c.(1327-1329)aAa>aCa	p.K443T		NM_019086	NP_061959	Q8N0Z9	VSI10_HUMAN	Homo sapiens V-set and immunoglobulin domain containing 10 (VSIG10), mRNA.	443						integral to membrane				endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1)	17						GTCCTTACCTTTCCAGCAGAA	0.532												
RB1	5925	broad.mit.edu	37	13	48941638	48941641	+	Frame_Shift_Del	DEL	TCTT	TCTT	-			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr13:48941638_48941641delTCTT	uc001vcb.3	+	9	1114_1117	c.948_951delTCTT	c.(946-951)aatcttfs	p.N316fs	RB1_uc010act.1_Frame_Shift_Del_p.N17fs	NM_000321	NP_000312	P06400	RB_HUMAN	Homo sapiens retinoblastoma 1 (RB1), mRNA.	316					androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(7)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AGGTTGAAAATCTTTCTAAACGAT	0.299		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)		
PIBF1	10464	broad.mit.edu	37	13	73372127	73372127	+	Nonsense_Mutation	SNP	T	T	A			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr13:73372127T>A	uc001vjc.3	+	4	940	c.635T>A	c.(634-636)tTa>tAa	p.L212*	PIBF1_uc010aeo.1_Non-coding_Transcript|PIBF1_uc001vjb.3_Nonsense_Mutation_p.L212*|PIBF1_uc010aep.3_Intron	NM_006346	NP_006337	Q8WXW3	PIBF1_HUMAN	Homo sapiens progesterone immunomodulatory binding factor 1 (PIBF1), mRNA.	212						centrosome				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		GCAGAAGAATTAAGTACAAAC	0.373												
MIA2	117153	broad.mit.edu	37	14	39722420	39722420	+	Missense_Mutation	SNP	G	G	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr14:39722420G>T	uc001wux.3	+	5	2126	c.1932G>T	c.(1930-1932)ttG>ttT	p.L644F		NM_054024	NP_473365	Q96PC5	MIA2_HUMAN	Homo sapiens melanoma inhibitory activity 2 (MIA2), mRNA.	0						extracellular region				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	31	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)		TACCTATTTTGCTAAATATAA	0.289												
FLVCR2	55640	broad.mit.edu	37	14	76107379	76107379	+	Silent	SNP	C	C	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr14:76107379C>T	uc001xrs.2	+	6	1693	c.1317C>T	c.(1315-1317)tcC>tcT	p.S439S	FLVCR2_uc010tvd.1_Silent_p.S234S	NM_017791	NP_060261	Q9UPI3	FLVC2_HUMAN	Homo sapiens feline leukemia virus subgroup C cellular receptor family, member 2 (FLVCR2), transcript variant 1, mRNA.	439				S -> F (in Ref. 3; BAA91126).	transmembrane transport	integral to membrane|plasma membrane	heme binding|heme transporter activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15				BRCA - Breast invasive adenocarcinoma(234;0.029)		GCATCTCCTCCGGCCTCCTCA	0.502												
SPTBN5	51332	broad.mit.edu	37	15	42148626	42148626	+	Frame_Shift_Del	DEL	A	A	-			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr15:42148626delA	uc001zos.3	-	52	9207	c.8874delT	c.(8872-8874)cttfs	p.L2958fs		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 5 (SPTBN5), mRNA.	2993					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)		GCTGCAGCAGAAGCCGCCTCC	0.697												
ZSCAN29	146050	broad.mit.edu	37	15	43661801	43661801	+	Missense_Mutation	SNP	C	C	G			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr15:43661801C>G	uc001zrk.1	-	0	458	c.311G>C	c.(310-312)aGa>aCa	p.R104T	ZSCAN29_uc001zrj.1_5'Flank|ZSCAN29_uc010bdg.1_Missense_Mutation_p.R103T|ZSCAN29_uc010bdf.1_Missense_Mutation_p.R103T|ZSCAN29_uc001zrl.1_Non-coding_Transcript|ZSCAN29_uc001zrm.3_Missense_Mutation_p.R103T|TUBGCP4_uc001zrn.3_5'Flank|TUBGCP4_uc001zro.3_5'Flank	NM_152455	NP_689668	Q8IWY8	ZSC29_HUMAN	Homo sapiens zinc finger and SCAN domain containing 29 (ZSCAN29), mRNA.	104			R -> G (in dbSNP:rs3809482).		viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		CACCGAAGATCTAGGTCTTCC	0.468												
ONECUT1	3175	broad.mit.edu	37	15	53081863	53081863	+	Silent	SNP	C	C	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr15:53081863C>T	uc002aci.1	-	0	347	c.219G>A	c.(217-219)cgG>cgA	p.R73R		NM_004498	NP_004489	Q9UBC0	HNF6_HUMAN	Homo sapiens one cut homeobox 1 (ONECUT1), mRNA.	73					endocrine pancreas development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17				all cancers(107;0.0708)		GCTCAGGGGCCCGGTGGTGGT	0.711												
TCF12	6938	broad.mit.edu	37	15	57565229	57565244	+	Frame_Shift_Del	DEL	AGTACTAATGAAGATG	AGTACTAATGAAGATG	-			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr15:57565229_57565244delAGTACTAATGAAGATG	uc002aec.3	+	17	1959_1974	c.1675_1690delAGTACTAATGAAGATG	c.(1675-1692)agtactaatgaagatgagfs	p.S559fs	TCF12_uc010ugm.1_Frame_Shift_Del_p.S611fs|TCF12_uc010ugn.1_Frame_Shift_Del_p.S579fs|TCF12_uc002aea.3_Frame_Shift_Del_p.S583fs|TCF12_uc010bfs.3_5'UTR|TCF12_uc002aeb.3_Frame_Shift_Del_p.S583fs|TCF12_uc002aed.3_Frame_Shift_Del_p.S559fs|TCF12_uc010ugo.2_Frame_Shift_Del_p.S323fs|TCF12_uc002aee.3_Frame_Shift_Del_p.S389fs|TCF12_uc010bft.3_Frame_Shift_Del_p.S413fs|TCF12_uc010ugp.2_Splice_Site_p.S216_splice|TCF12_uc010ugq.2_Frame_Shift_Del_p.S193fs|TCF12_uc010ugr.1_Frame_Shift_Del_p.S172fs	NM_207038	NP_996921	Q99081	HTF4_HUMAN	Homo sapiens transcription factor 12 (TCF12), transcript variant 4, mRNA.	559					immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		ATTTTCTAGCAGTACTAATGAAGATGAGGATTTGAA	0.384			T	TEC	extraskeletal myxoid chondrosarcoma							
ZNF592	9640	broad.mit.edu	37	15	85326217	85326217	+	Missense_Mutation	SNP	C	C	A			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr15:85326217C>A	uc002bld.3	+	3	647	c.311C>A	c.(310-312)cCc>cAc	p.P104H	ZNF592_uc010upb.2_Non-coding_Transcript	NM_014630	NP_055445	Q92610	ZN592_HUMAN	Homo sapiens zinc finger protein 592 (ZNF592), mRNA.	104					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CCTCCAGATCCCCACAACTGT	0.512												
SLC28A1	9154	broad.mit.edu	37	15	85478601	85478601	+	Missense_Mutation	SNP	C	C	T	rs116070802	by1000genomes	TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr15:85478601C>T	uc002blg.3	+	14	1635	c.1433C>T	c.(1432-1434)gCg>gTg	p.A478V	SLC28A1_uc010bnb.3_Missense_Mutation_p.A478V|SLC28A1_uc010upe.2_Intron|SLC28A1_uc010upf.1_Missense_Mutation_p.A478V|SLC28A1_uc010upg.1_Missense_Mutation_p.A478V	NM_004213	NP_004204	O00337	S28A1_HUMAN	Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 1 (SLC28A1), transcript variant 1, mRNA.	478					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			ATGGGTGTGGCGTGGGAGGAC	0.597												
CRTC3	64784	broad.mit.edu	37	15	91184403	91184403	+	Silent	SNP	C	C	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr15:91184403C>T	uc002bpp.3	+	13	1729	c.1623C>T	c.(1621-1623)tgC>tgT	p.C541C	CRTC3_uc002bpo.3_Silent_p.C541C	NM_022769	NP_073606	Q6UUV7	CRTC3_HUMAN	Homo sapiens CREB regulated transcription coactivator 3 (CRTC3), transcript variant 1, mRNA.	541					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus			CRTC3/MAML2(26)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			ATTCCAACTGCGGGAGTCTCC	0.507			T	MAML2	salivary gland mucoepidermoid							
WDR90	197335	broad.mit.edu	37	16	711897	711897	+	Nonsense_Mutation	SNP	C	C	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr16:711897C>T	uc002cii.1	+	31	3925	c.3871C>T	c.(3871-3873)Cga>Tga	p.R1291*	WDR90_uc002cij.1_Intron|WDR90_uc002cik.1_Nonsense_Mutation_p.R818*|WDR90_uc002cil.1_Non-coding_Transcript|WDR90_uc002cim.1_Nonsense_Mutation_p.R465*|WDR90_uc002cin.1_5'UTR	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN	Homo sapiens WD repeat domain 90 (WDR90), mRNA.	1291										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				CCAGGTGCGTCGAGAGCCAGT	0.637												
MLST8	64223	broad.mit.edu	37	16	2256621	2256621	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr16:2256621C>T	uc002coy.3	+	3	696	c.305C>T	c.(304-306)aCg>aTg	p.T102M	MLST8_uc002cpc.3_Missense_Mutation_p.T102M|MLST8_uc010uvx.2_Missense_Mutation_p.T36M|MLST8_uc002cpd.3_Missense_Mutation_p.T36M|MLST8_uc002cpb.3_Missense_Mutation_p.T101M|MLST8_uc002coz.3_Missense_Mutation_p.T102M|MLST8_uc002cpe.3_Missense_Mutation_p.T102M|MLST8_uc010uvy.2_Missense_Mutation_p.T102M|MLST8_uc002cpf.3_Missense_Mutation_p.T102M|MLST8_uc002cph.3_Non-coding_Transcript	NM_022372	NP_071767	Q9BVC4	LST8_HUMAN	Homo sapiens MTOR associated protein, LST8 homolog (S. cerevisiae) (MLST8), transcript variant 1, mRNA.	102					insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|T cell costimulation	cytosol	protein binding			large_intestine(3)|lung(2)|skin(1)	6						TGGATGTACACGGGCGGCGAG	0.632												
CCNF	899	broad.mit.edu	37	16	2506722	2506722	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr16:2506722C>T	uc002cqd.1	+	16	2150	c.2062C>T	c.(2062-2064)Cgc>Tgc	p.R688C	CCNF_uc002cqe.1_Missense_Mutation_p.R380C	NM_001761	NP_001752	P41002	CCNF_HUMAN	Homo sapiens cyclin F (CCNF), mRNA.	688	PEST.				cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	centriole|nucleus|SCF ubiquitin ligase complex	protein binding			breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				ACCCCTGGTCCGCACCAGCCG	0.662												
GOT2	2806	broad.mit.edu	37	16	58752174	58752174	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr16:58752174G>A	uc002eof.1	-	5	742	c.628C>T	c.(628-630)Cat>Tat	p.H210Y	GOT2_uc010vim.1_Missense_Mutation_p.H167Y	NM_002080	NP_002071	P00505	AATM_HUMAN	Homo sapiens glutamic-oxaloacetic transaminase 2, mitochondrial (aspartate aminotransferase 2) (GOT2), nuclear gene encoding mitochondrial protein, mRNA.	210					aspartate catabolic process|fatty acid transport|gluconeogenesis|response to ethanol	mitochondrial matrix|plasma membrane	L-aspartate:2-oxoglutarate aminotransferase activity|protein binding|pyridoxal phosphate binding	p.H210R(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|prostate(2)|skin(1)	22					L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	GCGCAGGCATGCAGAAGAAGA	0.498												
CNTNAP4	85445	broad.mit.edu	37	16	76486640	76486640	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr16:76486640G>A	uc002fex.1	+	6	1455	c.1316G>A	c.(1315-1317)gGa>gAa	p.G439E	CNTNAP4_uc002feu.1_Missense_Mutation_p.G435E|CNTNAP4_uc002fev.1_Missense_Mutation_p.G300E|CNTNAP4_uc010chb.1_Missense_Mutation_p.G363E|CNTNAP4_uc002few.2_Missense_Mutation_p.G411E	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA.	436	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TACCAGCCAGGAAAATTACCC	0.428												
ZC3H18	124245	broad.mit.edu	37	16	88688687	88688687	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr16:88688687C>T	uc010voz.2	+	9	1830	c.1630C>T	c.(1630-1632)Cgc>Tgc	p.R544C	ZC3H18_uc002fky.3_Missense_Mutation_p.R520C|ZC3H18_uc010chw.3_Non-coding_Transcript	NM_144604	NP_653205	Q86VM9	ZCH18_HUMAN	Homo sapiens zinc finger CCCH-type containing 18 (ZC3H18), mRNA.	520	Ser-rich.					nucleus	nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		GGACCCTTGGCGCCGATCCAA	0.602												
PITPNM3	83394	broad.mit.edu	37	17	6376097	6376097	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr17:6376097C>T	uc002gdd.4	-	10	1460	c.1309G>A	c.(1309-1311)Gca>Aca	p.A437T	PITPNM3_uc010cln.3_Missense_Mutation_p.A401T|PITPNM3_uc010clm.3_5'UTR|PITPNM3_uc002gdc.4_Missense_Mutation_p.A28T	NM_031220	NP_112497	Q9BZ71	PITM3_HUMAN	Homo sapiens PITPNM family member 3 (PITPNM3), transcript variant 1, mRNA.	437	DDHD.				phosphatidylinositol metabolic process	endomembrane system|integral to membrane	calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		GAGGGGTCTGCGCAATGGAAG	0.632												
TP53	7157	broad.mit.edu	37	17	7578457	7578457	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr17:7578457C>T	uc002gim.2	-	4	667	c.473G>A	c.(472-474)cGc>cAc	p.R158H	TP53_uc002gig.1_Missense_Mutation_p.R158H|TP53_uc002gih.3_Missense_Mutation_p.R158H|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R26H|TP53_uc010cnf.1_Missense_Mutation_p.R26H|TP53_uc002gii.1_Missense_Mutation_p.R26H|TP53_uc010cni.1_Missense_Mutation_p.R158H|TP53_uc010cnh.1_Missense_Mutation_p.R158H|TP53_uc002gij.2_Missense_Mutation_p.R158H|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R65H|TP53_uc002gio.2_Missense_Mutation_p.R26H|TP53_uc010vug.2_Missense_Mutation_p.R119H	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	158	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.V157F(151)|p.R158H(140)|p.R158L(138)|p.R158P(18)|p.R158C(18)|p.R158G(12)|p.V157I(10)|p.R158fs*11(9)|p.R65L(8)|p.V157D(8)|p.R158fs(8)|p.0?(8)|p.R26L(8)|p.R158_A159insX(8)|p.V157G(7)|p.V157L(6)|p.R158R(6)|p.R158fs*12(6)|p.V157V(5)|p.R65H(5)|p.R26H(5)|p.R158_A159delRA(4)|p.R156_I162delRVRAMAI(4)|p.V157fs*9(4)|p.V157fs*22(4)|p.V157fs*13(3)|p.V157_C176del20(2)|p.R65fs(2)|p.R156_A161delRVRAMA(2)|p.R158F(2)|p.P151_V173del23(2)|p.R156_R158delRVR(2)|p.V157del(2)|p.R156_A161del(2)|p.P153fs*22(2)|p.V157_M160delVRAM(2)|p.V157_R158delVR(2)|p.T155_A161delTRVRAMA(2)|p.R26fs(2)|p.V157_I162delVRAMAI(2)|p.V157fs*21(2)|p.R158fs*8(2)|p.V157fs*24(2)|p.R158fs*24(1)|p.R156_V157del(1)|p.R156_V157insV(1)|p.R156fs*18(1)|p.V157A(1)|p.R26fs*11(1)|p.R158_A159insXX(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.G154fs*22(1)|p.R65fs*11(1)|p.R158_A161del(1)|p.R156fs*20(1)|p.V157fs*25(1)|p.V157fs*23(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGCCATGGCGCGGACGCGGGT	0.627		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)		
MED13	9969	broad.mit.edu	37	17	60072508	60072512	+	Splice_Site	DEL	CTTAC	CTTAC	-			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr17:60072508_60072512delCTTAC	uc002izo.3	-	10	2258	c.2181_splice	c.e10+1	p.K727_splice		NM_005121	NP_005112	Q9UHV7	MED13_HUMAN	Homo sapiens mediator complex subunit 13 (MED13), mRNA.	727					androgen 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|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TGTGATTTCTCTTACCTTGTGTTTT	0.346												
FSCN2	25794	broad.mit.edu	37	17	79503762	79503762	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr17:79503762C>T	uc010wuo.2	+	3	1433	c.1292C>T	c.(1291-1293)tCc>tTc	p.S431F	FSCN2_uc010wup.2_Missense_Mutation_p.S407F	NM_001077182	NP_001070650	O14926	FSCN2_HUMAN	Homo sapiens fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus) (FSCN2), transcript variant 2, mRNA.	407					actin filament bundle assembly|anatomical structure morphogenesis|visual perception	actin cytoskeleton|cytoplasm|stereocilium	actin filament binding|protein binding, bridging			endometrium(1)|lung(1)|prostate(1)|urinary_tract(1)	4	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			ACCAACCGCTCCGTCTACGAC	0.701												
LAMA3	3909	broad.mit.edu	37	18	21441699	21441699	+	Silent	SNP	G	G	A			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr18:21441699G>A	uc002kuq.3	+	34	4598	c.4512G>A	c.(4510-4512)gcG>gcA	p.A1504A	LAMA3_uc002kur.3_Silent_p.A1504A	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	1504	Laminin IV type A.				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)	GTATGGTGGCGGATCTCCAGG	0.587												
DPP9	91039	broad.mit.edu	37	19	4704202	4704202	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr19:4704202G>A	uc002mba.3	-	5	799	c.541C>T	c.(541-543)Ctc>Ttc	p.L181F		NM_139159	NP_631898	Q86TI2	DPP9_HUMAN	Homo sapiens dipeptidyl-peptidase 9 (DPP9), mRNA.	152					proteolysis	cytosol|membrane	aminopeptidase activity|serine-type peptidase activity			cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		GCCTGGAAGAGGAAGAGGCCA	0.657												
VAV1	7409	broad.mit.edu	37	19	6828671	6828671	+	Silent	SNP	C	C	T	rs61750002		TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr19:6828671C>T	uc002mfu.1	+	11	1228	c.1131C>T	c.(1129-1131)aaC>aaT	p.N377N	VAV1_uc010xjh.1_Silent_p.N345N|VAV1_uc010dva.1_Silent_p.N377N|VAV1_uc002mfv.1_Silent_p.N322N	NM_005428	NP_005419	P15498	VAV_HUMAN	Homo sapiens vav 1 guanine nucleotide exchange factor (VAV1), mRNA.	377					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						AGCGAGACAACGAGACACTGC	0.637												
IL12RB1	3594	broad.mit.edu	37	19	18174730	18174730	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr19:18174730G>A	uc002nhx.1	-	13	1745	c.1694C>T	c.(1693-1695)gCg>gTg	p.A565V	IL12RB1_uc002nhw.1_Missense_Mutation_p.A525V|IL12RB1_uc010xqb.1_Missense_Mutation_p.A525V	NM_005535	NP_005526	P42701	I12R1_HUMAN	Homo sapiens interleukin 12 receptor, beta 1 (IL12RB1), transcript variant 1, mRNA.	525					cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						CCTCAGCCACGCTGTGTCTGC	0.632												
RPSA	388524	broad.mit.edu	37	19	24010294	24010294	+	Missense_Mutation	SNP	C	C	G			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr19:24010294C>G	uc002nrn.3	+	3	754	c.331C>G	c.(331-333)Cag>Gag	p.Q111E		NM_002295	NP_002286	P08865	RSSA_HUMAN	Homo sapiens ribosomal protein SA (RPSA), transcript variant 1, mRNA.	111	Interaction with PPP1R16B.				cell adhesion|endocrine pancreas development|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 3'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|ribosomal small subunit assembly|rRNA export from nucleus|translational elongation|translational termination|viral transcription	90S preribosome|cytosolic small ribosomal subunit|nucleus|plasma membrane	protein binding|receptor activity|ribosome binding|structural constituent of ribosome	p.Q111E(12)		endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064)		CTTCACTAACCAGATCCAGGC	0.567												
POU2F2	5452	broad.mit.edu	37	19	42596307	42596307	+	Silent	SNP	T	T	G			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr19:42596307T>G	uc002osp.3	-	12	1376	c.1314A>C	c.(1312-1314)ccA>ccC	p.P438P	POU2F2_uc002osn.3_Silent_p.P422P|POU2F2_uc002osq.3_Intron|POU2F2_uc002osr.2_Silent_p.P438P	NM_001207025	NP_001193954	P09086	PO2F2_HUMAN	Homo sapiens POU class 2 homeobox 2 (POU2F2), transcript variant 1, mRNA.	438					humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)				TGGCCGGGGGTGGGGGAGTGA	0.701												
IGFL3	388555	broad.mit.edu	37	19	46627409	46627409	+	Silent	SNP	A	A	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr19:46627409A>T	uc002pea.1	-	2	109	c.84T>A	c.(82-84)gcT>gcA	p.A28A		NM_207393	NP_997276	Q6UXB1	IGFL3_HUMAN	Homo sapiens IGF-like family member 3 (IGFL3), mRNA.	28						extracellular region	protein binding			endometrium(1)|large_intestine(1)|lung(5)	7		Ovarian(192;0.0175)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00473)|GBM - Glioblastoma multiforme(486;0.0149)|Epithelial(262;0.239)		AGCCAACAGGAGCGTCTGGGG	0.507												
SULT2B1	6820	broad.mit.edu	37	19	49090651	49090651	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr19:49090651C>T	uc002pjl.3	+	2	461	c.380C>T	c.(379-381)cCc>cTc	p.P127L	SULT2B1_uc002pjm.3_Missense_Mutation_p.P112L	NM_177973	NP_814444	O00204	ST2B1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 2B, member 1 (SULT2B1), transcript variant 2, mRNA.	127					3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process	cytosol	alcohol sulfotransferase activity|protein binding|steroid sulfotransferase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1)	11		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000115)|all cancers(93;0.000147)|GBM - Glioblastoma multiforme(486;0.00707)|Epithelial(262;0.0178)		TCCCATCTTCCCATCCAGATC	0.612												
KLK9	284366	broad.mit.edu	37	19	51509764	51509764	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr19:51509764G>A	uc002pux.1	-	2	503	c.416C>T	c.(415-417)cCa>cTa	p.P139L	KLK9_uc002puw.1_Non-coding_Transcript|KLK9_uc010eol.1_Missense_Mutation_p.P110L|KLK8_uc002puv.1_5'Flank	NM_012315	NP_036447	Q9UKQ9	KLK9_HUMAN	Homo sapiens kallikrein-related peptidase 9 (KLK9), mRNA.	139	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)	7		all_neural(266;0.0652)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885)		CTGCATGCCTGGGGAGACACA	0.602												
SIGLEC8	27181	broad.mit.edu	37	19	51957534	51957534	+	Missense_Mutation	SNP	G	G	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr19:51957534G>T	uc002pwt.3	-	5	1251	c.1184C>A	c.(1183-1185)gCa>gAa	p.A395E	SIGLEC8_uc010yda.2_Missense_Mutation_p.A286E|SIGLEC8_uc002pwu.3_Non-coding_Transcript|SIGLEC8_uc010eox.2_Missense_Mutation_p.A302E	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 8 (SIGLEC8), mRNA.	395					cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CACGCCCGCTGCTGGCCTTGC	0.602												
ZNF845	91664	broad.mit.edu	37	19	53854579	53854579	+	Silent	SNP	T	T	C			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr19:53854579T>C	uc010ydv.1	+	3	768	c.651T>C	c.(649-651)tgT>tgC	p.C217C	ZNF845_uc010ydw.1_Silent_p.C217C	NM_138374	NP_612383	Q96IR2	ZN845_HUMAN	Homo sapiens zinc finger protein 845 (ZNF845), mRNA.	217					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						CTTTCCAATGTAATGAGAGTG	0.353												
NLRP9	338321	broad.mit.edu	37	19	56241342	56241342	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr19:56241342C>T	uc002qly.3	-	2	1877	c.1849G>A	c.(1849-1851)Gtc>Atc	p.V617I		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	Homo sapiens NLR family, pyrin domain containing 9 (NLRP9), mRNA.	617						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)		CGCCAGTAGACGAGCTTCTCA	0.418												
IAH1	285148	broad.mit.edu	37	2	9628296	9628296	+	Silent	SNP	A	A	G			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr2:9628296A>G	uc002qzr.3	+	5	611	c.585A>G	c.(583-585)tcA>tcG	p.S195S	IAH1_uc002qzs.3_Silent_p.S82S|IAH1_uc002qzt.3_Silent_p.S82S|IAH1_uc010yiz.2_Non-coding_Transcript	NM_001039613	NP_001034702	Q2TAA2	IAH1_HUMAN	Homo sapiens isoamyl acetate-hydrolyzing esterase 1 homolog (S. cerevisiae) (IAH1), mRNA.	195					lipid catabolic process		hydrolase activity, acting on ester bonds			breast(1)|large_intestine(2)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CTTATTTATCAGATGGACTAC	0.448												
TTN	7273	broad.mit.edu	37	2	179542390	179542392	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr2:179542390_179542392delCTT	uc021vsy.1	-	142	30740_30742	c.30515_30517delAAG	c.(30514-30519)gaagtc>gtc	p.E10172del	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_In_Frame_Del_p.E6833del|TTN_uc010fre.1_Intron|TTN_uc002una.1_Non-coding_Transcript|TTN_uc010frf.1_Non-coding_Transcript	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	11099	Glu-rich.						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)			TCTGGAAGGACTTCTTCTTCAGG	0.443												
COL3A1	1281	broad.mit.edu	37	2	189859008	189859008	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr2:189859008C>T	uc002uqj.1	+	17	1360	c.1243C>T	c.(1243-1245)Cct>Tct	p.P415S	COL3A1_uc010frw.1_Non-coding_Transcript|MIR3606_uc021vtx.1_5'Flank	NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	415	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)	AGCCCGGGGTCCTCCAGGACC	0.498												
TSHZ2	128553	broad.mit.edu	37	20	51870661	51870661	+	Missense_Mutation	SNP	G	G	A	rs141167641	by1000genomes	TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr20:51870661G>A	uc002xwo.3	+	1	1551	c.664G>A	c.(664-666)Gcg>Acg	p.A222T	TSHZ2_uc021wex.1_Missense_Mutation_p.A219T	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	222					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A222T(2)|p.A222V(1)		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)			ACAGTGCAGCGCGGCCTATGA	0.562												
PCK1	5105	broad.mit.edu	37	20	56137157	56137157	+	Silent	SNP	G	G	A			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr20:56137157G>A	uc002xyn.4	+	2	418	c.255G>A	c.(253-255)gtG>gtA	p.V85V	PCK1_uc010zzm.2_Intron	NM_002591	NP_002582	P35558	PCKGC_HUMAN	Homo sapiens phosphoenolpyruvate carboxykinase 1 (soluble) (PCK1), mRNA.	85					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			CCAGGGATGTGGCCAGGATCG	0.572												
SYCP2	10388	broad.mit.edu	37	20	58467201	58467201	+	Silent	SNP	C	C	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr20:58467201C>T	uc002yaz.3	-	22	2347	c.2208G>A	c.(2206-2208)tcG>tcA	p.S736S		NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	Homo sapiens synaptonemal complex protein 2 (SYCP2), mRNA.	736					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding	p.S736L(1)		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)			TATATATCAGCGATTCTTCAA	0.348												
KRTAP26-1	388818	broad.mit.edu	37	21	31692021	31692021	+	Silent	SNP	G	G	A			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr21:31692021G>A	uc002ynw.3	-	0	587	c.333C>T	c.(331-333)tcC>tcT	p.S111S		NM_203405	NP_981950	Q6PEX3	KR261_HUMAN	Homo sapiens keratin associated protein 26-1 (KRTAP26-1), mRNA.	111						intermediate filament				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						GTGGTCTACAGGATACTGGAA	0.547												
BPIFC	254240	broad.mit.edu	37	22	32828374	32828374	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr22:32828374C>T	uc003amn.2	-	9	1135	c.1135G>A	c.(1135-1137)Gtt>Att	p.V379I	BPIFC_uc010gwo.2_Intron|BPIFC_uc011amb.1_Missense_Mutation_p.V103I	NM_174932	NP_777592	Q8NFQ6	BPIL2_HUMAN	Homo sapiens BPI fold containing family C (BPIFC), mRNA.	379						extracellular region	lipopolysaccharide binding|phospholipid binding										TCCATGGAAACGATGGTTTCA	0.512												
C22orf26	55267	broad.mit.edu	37	22	46449890	46449890	+	Frame_Shift_Del	DEL	G	G	-			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr22:46449890delG	uc003bgq.1	-	0	135	c.84delC	c.(82-84)cccfs	p.P28fs	MIRLET7BHG_uc011aqw.2_Intron|MIRLET7BHG_uc003bgr.4_Intron	NM_018280	NP_060750	Q9NV39	CV026_HUMAN	Homo sapiens chromosome 22 open reading frame 26 (C22orf26), mRNA.	28	Pro-rich.		P -> L (in dbSNP:rs12159707).										Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.0784)|LUAD - Lung adenocarcinoma(64;0.247)		TTGCGGGGTTGGGGGGGGAGG	0.751												
NUP210	23225	broad.mit.edu	37	3	13427820	13427820	+	Missense_Mutation	SNP	A	A	G			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr3:13427820A>G	uc003bxv.1	-	5	855	c.772T>C	c.(772-774)Tcc>Ccc	p.S258P		NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	Homo sapiens nucleoporin 210kDa (NUP210), mRNA.	258					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)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					TAGTGAATGGAGGTTCCCACC	0.468												
NKTR	4820	broad.mit.edu	37	3	42678511	42678511	+	Frame_Shift_Del	DEL	A	A	-			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr3:42678511delA	uc003clo.3	+	12	1462	c.1315delA	c.(1315-1317)aaafs	p.K439fs	NKTR_uc003clm.1_Frame_Shift_Del_p.K186fs|NKTR_uc011azp.2_Intron|NKTR_uc003clp.3_Frame_Shift_Del_p.K186fs|NKTR_uc003clq.1_Frame_Shift_Del_p.K329fs|NKTR_uc003clr.1_Frame_Shift_Del_p.K186fs|NKTR_uc003cls.3_Frame_Shift_Del_p.K139fs	NM_005385	NP_005376	P30414	NKTR_HUMAN	Homo sapiens natural killer-tumor recognition sequence (NKTR), mRNA.	439	Arg/Lys-rich (basic).				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		GGTTAAGCATAAAAAGAAAGG	0.368												
ALAS1	211	broad.mit.edu	37	3	52242221	52242221	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr3:52242221G>A	uc011bec.2	+	8	1659	c.1339G>A	c.(1339-1341)Gat>Aat	p.D447N	ALAS1_uc003dcy.2_Missense_Mutation_p.D430N|ALAS1_uc003dcz.2_Missense_Mutation_p.D430N	NM_199166	NP_954635	P13196	HEM1_HUMAN	Homo sapiens aminolevulinate, delta-, synthase 1 (ALAS1), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	430					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)	TGGGGATCGGGATGGAGTCAT	0.483												
DNAH1	25981	broad.mit.edu	37	3	52422839	52422839	+	Silent	SNP	G	G	A			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr3:52422839G>A	uc011bef.2	+	58	9642	c.9381G>A	c.(9379-9381)tcG>tcA	p.S3127S	DNAH1_uc003ddv.3_5'UTR	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	3192					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)		ACGGGCTGTCGGATGAGAAGG	0.667												
SERPINI1	5274	broad.mit.edu	37	3	167525043	167525043	+	Missense_Mutation	SNP	A	A	C			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr3:167525043A>C	uc003ffa.4	+	5	1091	c.893A>C	c.(892-894)gAa>gCa	p.E298A	SERPINI1_uc003ffb.4_Missense_Mutation_p.E298A	NM_001122752	NP_005016	Q99574	NEUS_HUMAN	Homo sapiens serpin peptidase inhibitor, clade I (neuroserpin), member 1 (SERPINI1), transcript variant 2, mRNA.	298					central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	p.E298E(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						TTCACAGTGGAACAGGAAATT	0.338												
ATP8A1	10396	broad.mit.edu	37	4	42581956	42581956	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr4:42581956G>A	uc003gwr.2	-	10	1106	c.874C>T	c.(874-876)Cgg>Tgg	p.R292W	ATP8A1_uc003gws.2_Missense_Mutation_p.R292W|ATP8A1_uc011byz.1_Missense_Mutation_p.R292W	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN	Homo sapiens ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 (ATP8A1), transcript variant 1, mRNA.	292					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	p.R292W(2)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	TTTGTAATCCGTTCCACATTT	0.343												
CENPE	1062	broad.mit.edu	37	4	104065619	104065619	+	Nonsense_Mutation	SNP	G	G	A			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr4:104065619G>A	uc003hxb.1	-	32	5104	c.5014C>T	c.(5014-5016)Cag>Tag	p.Q1672*	CENPE_uc003hxc.1_Nonsense_Mutation_p.Q1647*	NM_001813	NP_001804	Q02224	CENPE_HUMAN	Homo sapiens centromere protein E, 312kDa (CENPE), mRNA.	1672					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TGTAGTATCTGAGTCAACCTT	0.393												
CEP170P1	645455	broad.mit.edu	37	4	119444540	119444540	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr4:119444540G>A	uc003icb.3	+	1	113	c.29G>A	c.(28-30)cGg>cAg	p.R10Q						Homo sapiens centrosomal protein 170kDa pseudogene 1 (CEP170P1), non-coding RNA.																		TTCAAACACCGGATTAAAGAG	0.443												
KIAA1109	84162	broad.mit.edu	37	4	123184110	123184110	+	Silent	SNP	T	T	C			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr4:123184110T>C	uc003ieh.3	+	40	6999	c.6954T>C	c.(6952-6954)gcT>gcC	p.A2318A	KIAA1109_uc003iel.1_Silent_p.A253A|KIAA1109_uc003iek.2_Silent_p.A937A	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	2318					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GCAGTGCTGCTGTGAAAAGTA	0.463												
KIAA1109	84162	broad.mit.edu	37	4	123192519	123192519	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr4:123192519C>T	uc003ieh.3	+	44	7885	c.7840C>T	c.(7840-7842)Cgg>Tgg	p.R2614W	KIAA1109_uc003iel.1_Missense_Mutation_p.R549W|KIAA1109_uc003iek.2_Missense_Mutation_p.R1233W	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	2614					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						CAGAAAACATCGGGACTTTCG	0.403												
SLC10A7	84068	broad.mit.edu	37	4	147227117	147227117	+	Silent	SNP	C	C	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr4:147227117C>T	uc010ioz.2	-	6	770	c.516G>A	c.(514-516)caG>caA	p.Q172Q	SLC10A7_uc003ikr.2_Silent_p.Q172Q|SLC10A7_uc010ipa.2_Silent_p.Q159Q|SLC10A7_uc003iks.2_Non-coding_Transcript	NM_001029998	NP_001025169	Q0GE19	NTCP7_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 7 (SLC10A7), transcript variant 2, mRNA.	172						integral to membrane	bile acid:sodium symporter activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|skin(1)	16	all_hematologic(180;0.151)					TCATAAAAAGCTGAGAAAAAA	0.338												
WWC2	80014	broad.mit.edu	37	4	184201996	184201998	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr4:184201996_184201998delAAG	uc010irx.3	+	16	2812_2814	c.2630_2632delAAG	c.(2629-2634)caagaa>caa	p.E882del	WWC2_uc003ivk.4_In_Frame_Del_p.E677del|WWC2_uc003ivl.4_Non-coding_Transcript|WWC2_uc010iry.3_In_Frame_Del_p.E564del|WWC2_uc003ivn.4_In_Frame_Del_p.E397del|WWC2_uc010irz.3_In_Frame_Del_p.E199del|WWC2_uc003ivo.4_5'Flank	NM_024949	NP_079225	Q6AWC2	WWC2_HUMAN	Homo sapiens WW and C2 domain containing 2 (WWC2), mRNA.	882										NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		gaattagcacaagaagaagaaga	0.424												
ZFR	51663	broad.mit.edu	37	5	32388633	32388636	+	Frame_Shift_Del	DEL	CAGA	CAGA	-			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr5:32388633_32388636delCAGA	uc003jhr.1	-	12	2367_2370	c.2287_2290delTCTG	c.(2287-2292)tctgaafs	p.S763fs	ZFR_uc011cny.1_Non-coding_Transcript	NM_016107	NP_057191	Q96KR1	ZFR_HUMAN	Homo sapiens zinc finger RNA binding protein (ZFR), mRNA.	763					multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		TTCTCATGTTCAGACAAACTGTCT	0.358												
ADAMTS12	81792	broad.mit.edu	37	5	33881270	33881270	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr5:33881270T>C	uc003jia.1	-	1	606	c.443A>G	c.(442-444)cAg>cGg	p.Q148R	ADAMTS12_uc010iuq.1_Missense_Mutation_p.Q148R|ADAMTS12_uc003jib.1_Missense_Mutation_p.Q148R	NM_030955	NP_112217	P58397	ATS12_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.	148					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TCTGGTGCCCTGCTGTAGAAC	0.577										HNSCC(64;0.19)		
GPR98	84059	broad.mit.edu	37	5	90046453	90046453	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr5:90046453G>A	uc003kju.3	+	52	11156	c.11060G>A	c.(11059-11061)cGt>cAt	p.R3687H	GPR98_uc003kjt.3_Missense_Mutation_p.R1393H|GPR98_uc003kjv.3_Missense_Mutation_p.R1287H	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	3687					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)		ACATATGGCCGTATAACCATA	0.343												
GPR98	84059	broad.mit.edu	37	5	90144497	90144497	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr5:90144497G>A	uc003kju.3	+	78	17159	c.17063G>A	c.(17062-17064)cGa>cAa	p.R5688Q	GPR98_uc003kjt.3_Missense_Mutation_p.R3394Q|GPR98_uc003kjw.3_Missense_Mutation_p.R1349Q	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	5688					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)		GTTGCCAGCCGAACTCTTTTC	0.323												
GPR98	84059	broad.mit.edu	37	5	90159635	90159635	+	Missense_Mutation	SNP	A	A	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr5:90159635A>T	uc003kju.3	+	82	17913	c.17817A>T	c.(17815-17817)aaA>aaT	p.K5939N	GPR98_uc003kjt.3_Missense_Mutation_p.K3645N|GPR98_uc003kjw.3_Missense_Mutation_p.K1600N	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	5939					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)		TTGCAGCTAAACTTCTGACTC	0.423												
EPB41L4A	64097	broad.mit.edu	37	5	111540130	111540130	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr5:111540130G>A	uc003kpv.1	-	14	1592	c.1318C>T	c.(1318-1320)Cgt>Tgt	p.R440C	EPB41L4A_uc003kpp.1_Missense_Mutation_p.R67C	NM_022140	NP_071423	Q9HCS5	E41LA_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 like 4A (EPB41L4A), mRNA.	440						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		TTTCGGCGACGCGTGTAAGGG	0.488												
ATG12	9140	broad.mit.edu	37	5	115177086	115177087	+	Splice_Site	INS	-	-	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr5:115177086_115177087insT	uc003krh.3	-	1	462	c.163_splice	c.e1+1	p.I55_splice	AP3S1_uc003krl.3_5'Flank|AP3S1_uc003krk.3_5'Flank|ATG12_uc021ycr.1_Splice_Site|ATG12_uc021ycs.1_Splice_Site|ATG12_uc003kri.3_Splice_Site_p.I102_splice	NM_004707	NP_004698	O94817	ATG12_HUMAN	Homo sapiens ATG12 autophagy related 12 homolog (S. cerevisiae) (ATG12), transcript variant 1, mRNA.	55					autophagic vacuole assembly|negative regulation of type I interferon production	pre-autophagosomal structure membrane	protein binding			endometrium(2)|kidney(1)|lung(1)|prostate(1)	5		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)		OV - Ovarian serous cystadenocarcinoma(64;7.59e-08)|Epithelial(69;7.05e-07)|all cancers(49;3.11e-05)		AATTCAGTTACTTTTTTTCTTG	0.550												
PRR16	51334	broad.mit.edu	37	5	120022105	120022105	+	Missense_Mutation	SNP	C	C	T	rs137912065	byFrequency	TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr5:120022105C>T	uc003ksq.3	+	1	779	c.616C>T	c.(616-618)Cgg>Tgg	p.R206W	PRR16_uc003ksp.3_Missense_Mutation_p.R183W|PRR16_uc003ksr.3_Missense_Mutation_p.R136W	NM_016644	NP_057728	Q569H4	PRR16_HUMAN	Homo sapiens proline rich 16 (PRR16), mRNA.	206	Pro-rich.							p.R206S(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		AGAACGAGTTCGGTTTAATGA	0.473												
CSNK1G3	1456	broad.mit.edu	37	5	122893189	122893189	+	Nonsense_Mutation	SNP	G	G	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr5:122893189G>T	uc003ktm.3	+	4	939	c.220_splice	c.e4-1	p.E74_splice	CSNK1G3_uc003ktl.3_Splice_Site_p.E74_splice|CSNK1G3_uc003ktn.3_Splice_Site_p.E74_splice|CSNK1G3_uc003kto.3_Splice_Site_p.E74_splice|CSNK1G3_uc011cwr.2_Splice_Site|CSNK1G3_uc011cws.2_Intron|CSNK1G3_uc010jda.3_Splice_Site_p.E74_splice	NM_004384	NP_004375	Q9Y6M4	KC1G3_HUMAN	Homo sapiens casein kinase 1, gamma 3 (CSNK1G3), transcript variant 1, mRNA.	74	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1)	15		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)		TTTCAATTAGGAGCCCATGAA	0.303												
TRPC7	57113	broad.mit.edu	37	5	135693041	135693041	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr5:135693041C>T	uc003lbn.2	-	1	257	c.35G>A	c.(34-36)cGc>cAc	p.R12H	TRPC7_uc010jef.2_Missense_Mutation_p.R3H|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_5'UTR|TRPC7_uc010jeh.2_Missense_Mutation_p.R12H|TRPC7_uc010jei.2_Missense_Mutation_p.R12H	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA.	12					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGTGTGCCGGCGCTGCATGTT	0.572												
NDFIP1	80762	broad.mit.edu	37	5	141511419	141511419	+	Missense_Mutation	SNP	A	A	G			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr5:141511419A>G	uc003lmi.4	+	1	326	c.110A>G	c.(109-111)gAt>gGt	p.D37G	NDFIP1_uc003lmj.1_Missense_Mutation_p.D37G	NM_030571	NP_085048	Q9BT67	NFIP1_HUMAN	Homo sapiens Nedd4 family interacting protein 1 (NDFIP1), mRNA.	37					cellular iron ion homeostasis|negative regulation of gene expression|negative regulation of protein transport|negative regulation of transporter activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of protein ubiquitination	endosome membrane|extracellular region|Golgi membrane|integral to membrane|perinuclear region of cytoplasm	signal transducer activity	p.D37D(1)		large_intestine(3)|lung(1)|ovary(1)	5		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGCAGGTGATGCTCCTCCA	0.408												
GABRG2	2566	broad.mit.edu	37	5	161530925	161530925	+	Missense_Mutation	SNP	A	A	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr5:161530925A>T	uc010jjc.3	+	6	1140	c.782A>T	c.(781-783)cAa>cTa	p.Q261L	GABRG2_uc003lyy.4_Missense_Mutation_p.Q221L|GABRG2_uc003lyz.4_Missense_Mutation_p.Q221L|GABRG2_uc011dej.2_Missense_Mutation_p.Q126L	NM_198903	NP_944493	P18507	GBRG2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 2 (GABRG2), transcript variant 3, mRNA.	221					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	p.V261F(1)		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)		ATTGTTTATCAATGGAAGCGA	0.388												
BNIP1	662	broad.mit.edu	37	5	172585746	172585746	+	Splice_Site	SNP	G	G	A			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr5:172585746G>A	uc003mci.4	+	5	503	c.399_splice	c.e5-1	p.S133_splice	BNIP1_uc003mcj.4_Splice_Site_p.S90_splice|BNIP1_uc003mck.4_Intron|BNIP1_uc003mcl.4_Intron|BNIP1_uc021yhw.1_Splice_Site_p.S3_splice	NM_013979	NP_053582	Q12981	SEC20_HUMAN	Homo sapiens BCL2/adenovirus E1B 19kDa interacting protein 1 (BNIP1), transcript variant BNIP1-b, mRNA.	90					anti-apoptosis|apoptosis|endoplasmic reticulum membrane fusion|endoplasmic reticulum organization|induction of apoptosis|vesicle-mediated transport	integral to endoplasmic reticulum membrane|nuclear envelope|SNARE complex	protein binding			breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	11	Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TCCAATTCCAGCAATCAGGCC	0.483												
CDHR2	54825	broad.mit.edu	37	5	176004494	176004494	+	Missense_Mutation	SNP	A	A	G			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr5:176004494A>G	uc021yie.1	+	12	1563	c.1289A>G	c.(1288-1290)cAg>cGg	p.Q430R	CDHR2_uc003mem.2_Missense_Mutation_p.Q430R|CDHR2_uc003men.1_Missense_Mutation_p.Q430R	NM_001171976	NP_060145	Q9BYE9	CDHR2_HUMAN	Homo sapiens cadherin-related family member 2 (CDHR2), transcript variant 1, mRNA.	430	Cadherin 4.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						GCCTCCGTTCAGGTGCTGGTG	0.672												
DSP	1832	broad.mit.edu	37	6	7576615	7576615	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr6:7576615C>T	uc003mxp.1	+	18	2998	c.2719C>T	c.(2719-2721)Cgc>Tgc	p.R907C	DSP_uc003mxq.1_Missense_Mutation_p.R907C|DSP_uc021yle.1_Missense_Mutation_p.R907C	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	907	Globular 1.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TGATGCTAAACGCCGCCAGGA	0.423												
TAP2	6891	broad.mit.edu	37	6	32798068	32798068	+	Silent	SNP	A	A	G			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr6:32798068A>G	uc011dqf.1	-	8	1733	c.1611T>C	c.(1609-1611)taT>taC	p.Y537Y	TAP2_uc003ocb.1_Silent_p.Y537Y|TAP2_uc003occ.3_Silent_p.Y537Y|TAP2_uc003ocd.3_Silent_p.Y537Y	NM_018833	NP_061313	Q03519	TAP2_HUMAN	Homo sapiens transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) (TAP2), transcript variant 2, mRNA.	537	ABC transporter.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding										AGCAGTGTTCATACTGTGAGA	0.587												
TREML2	79865	broad.mit.edu	37	6	41166078	41166078	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr6:41166078G>A	uc010jxm.1	-	1	324	c.145C>T	c.(145-147)Cgc>Tgc	p.R49C		NM_024807	NP_079083	Q5T2D2	TRML2_HUMAN	Homo sapiens triggering receptor expressed on myeloid cells-like 2 (TREML2), mRNA.	49	Ig-like V-type.				T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCCTCCACGCGGTTTTTGTAG	0.547												
ABCC10	89845	broad.mit.edu	37	6	43417751	43417751	+	Silent	SNP	C	C	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr6:43417751C>T	uc003ouy.1	+	21	4616	c.4401C>T	c.(4399-4401)cgC>cgT	p.R1467R	ABCC10_uc003ouz.1_Silent_p.R1439R|ABCC10_uc010jyo.1_Silent_p.R573R	NM_001198934	NP_001185863	Q5T3U5	MRP7_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 10 (ABCC10), transcript variant MRP7, mRNA.	1467	ABC transporter 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			CCACCCTGCGCAACCAGCCCC	0.642												
ZDHHC4	55146	broad.mit.edu	37	7	6628405	6628405	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr7:6628405G>A	uc003sqi.3	+	8	1257	c.899G>A	c.(898-900)cGt>cAt	p.R300H	ZDHHC4_uc003sql.3_Missense_Mutation_p.R300H|ZDHHC4_uc003sqj.3_Missense_Mutation_p.R300H|ZDHHC4_uc003sqh.3_Missense_Mutation_p.R300H|C7orf26_uc003sqo.1_5'Flank|C7orf26_uc003sqp.1_5'Flank	NM_001134388	NP_060576	Q9NPG8	ZDHC4_HUMAN	Homo sapiens zinc finger, DHHC-type containing 4 (ZDHHC4), transcript variant 2, mRNA.	300						integral to membrane	acyltransferase activity|zinc ion binding	p.R300H(4)|p.Q299*(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.1)		TGGTGCCAGCGTTGTCCCCTT	0.577												
CALCR	799	broad.mit.edu	37	7	93108737	93108737	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr7:93108737C>T	uc003umv.2	-	4	488	c.188G>A	c.(187-189)cGa>cAa	p.R63Q	CALCR_uc003umt.1_Non-coding_Transcript|CALCR_uc003ums.1_Non-coding_Transcript|CALCR_uc022ahi.1_Missense_Mutation_p.R45Q|CALCR_uc003umw.2_Missense_Mutation_p.R45Q	NM_001164737	NP_001158209	P30988	CALCR_HUMAN	Homo sapiens calcitonin receptor (CALCR), transcript variant 1, mRNA.	45					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	CATCTTCTTTCGTCCTACGAC	0.403												
RBM28	55131	broad.mit.edu	37	7	127979698	127979698	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr7:127979698T>C	uc003vmp.2	-	1	381	c.266A>G	c.(265-267)aAg>aGg	p.K89R	RBM28_uc011koj.1_Intron|RBM28_uc011kok.1_Missense_Mutation_p.K36R	NM_018077	NP_060547	Q9NW13	RBM28_HUMAN	Homo sapiens RNA binding motif protein 28 (RBM28), transcript variant 1, mRNA.	89					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						ATTTTTCCCCTTTTCCTTTGT	0.443												
INTS10	55174	broad.mit.edu	37	8	19677962	19677962	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr8:19677962C>T	uc022asn.1	+	3	505	c.374C>T	c.(373-375)aCg>aTg	p.T125M	INTS10_uc003wzj.3_Missense_Mutation_p.T125M	NM_018142	NP_060612	Q9NVR2	INT10_HUMAN	Homo sapiens integrator complex subunit 10 (INTS10), mRNA.	125					snRNA processing	integrator complex	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		TGCTTCAACACGTTAGAACGA	0.403												
DCAF4L2	138009	broad.mit.edu	37	8	88886278	88886278	+	Translation_Start_Site	SNP	C	C	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr8:88886278C>T	uc003ydz.3	-	0						NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 4-like 2 (DCAF4L2), mRNA.											breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						TTTACAAGCACGACTTGGCAC	0.577												
SLC25A32	81034	broad.mit.edu	37	8	104417070	104417070	+	Missense_Mutation	SNP	A	A	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr8:104417070A>T	uc003yll.3	-	2	628	c.325T>A	c.(325-327)Tat>Aat	p.Y109N	SLC25A32_uc011lhr.2_Intron	NM_030780	NP_110407	Q9H2D1	MFTC_HUMAN	Homo sapiens solute carrier family 25, member 32 (SLC25A32), nuclear gene encoding mitochondrial protein, mRNA.	109					folic acid metabolic process|mitochondrial transport	integral to membrane|mitochondrial inner membrane	binding|folic acid transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	9			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)		Folic Acid(DB00158)	TCTGTTTTATATGACTTGATG	0.353												
SPATA31C2	645961	broad.mit.edu	37	9	90745328	90745328	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr9:90745328G>A	uc011lti.2	-	3	2653	c.2624C>T	c.(2623-2625)gCc>gTc	p.A875V	DQ587746_uc004apx.1_5'Flank	NM_001166137	NP_001159609	B4DYI2	B4DYI2_HUMAN	Homo sapiens family with sequence similarity 75, member C2 (FAM75C2), mRNA.	875																	CACAACAGTGGCAGAAACTTG	0.537												
KAL1	3730	broad.mit.edu	37	X	8555862	8555862	+	Silent	SNP	G	G	A			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chrX:8555862G>A	uc004csf.3	-	4	849	c.699C>T	c.(697-699)gaC>gaT	p.D233D		NM_000216	NP_000207	P23352	KALM_HUMAN	Homo sapiens Kallmann syndrome 1 sequence (KAL1), mRNA.	233	Fibronectin type-III 1.				axon guidance|cell adhesion|cellular component movement	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						AGTGAGTGGCGTCATCTTCGC	0.423												
BEND2	139105	broad.mit.edu	37	X	18238990	18238990	+	Translation_Start_Site	SNP	G	G	A			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chrX:18238990G>A	uc004cyj.4	-	0					BEND2_uc010nfb.2_5'UTR	NM_153346	NP_699177	Q8NDZ0	BEND2_HUMAN	Homo sapiens BEN domain containing 2 (BEND2), transcript variant 1, mRNA.											NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						GCGTACACTCGTTGTCCGAGG	0.647												
ARHGEF9	23229	broad.mit.edu	37	X	62875413	62875413	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chrX:62875413T>C	uc004dvl.2	-	7	2100	c.1261A>G	c.(1261-1263)Aga>Gga	p.R421G	ARHGEF9_uc011mos.1_Missense_Mutation_p.R400G|ARHGEF9_uc004dvk.1_Missense_Mutation_p.R239G|ARHGEF9_uc004dvm.1_Missense_Mutation_p.R400G|ARHGEF9_uc004dvj.2_Missense_Mutation_p.R319G|ARHGEF9_uc011mot.2_Missense_Mutation_p.R368G|ARHGEF9_uc004dvn.3_Missense_Mutation_p.R428G	NM_015185	NP_001166951	O43307	ARHG9_HUMAN	Homo sapiens Cdc42 guanine nucleotide exchange factor (GEF) 9 (ARHGEF9), transcript variant 1, mRNA.	421	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						CTCTCTTCTCTGAAAGCCCTG	0.413												
LAS1L	81887	broad.mit.edu	37	X	64749656	64749656	+	Missense_Mutation	SNP	A	A	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chrX:64749656A>T	uc004dwa.2	-	4	708	c.617T>A	c.(616-618)aTa>aAa	p.I206K	LAS1L_uc004dwc.2_Missense_Mutation_p.I206K|LAS1L_uc004dwd.2_Missense_Mutation_p.I164K	NM_031206	NP_112483	Q9Y4W2	LAS1L_HUMAN	Homo sapiens LAS1-like (S. cerevisiae) (LAS1L), transcript variant 1, mRNA.	206						MLL1 complex|nucleolus	protein binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						CTCTTCCTCTATCCCTTCCCT	0.488												
MED12	9968	broad.mit.edu	37	X	70357763	70357763	+	Missense_Mutation	SNP	C	C	A			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chrX:70357763C>A	uc004dyy.3	+	40	6213	c.6014C>A	c.(6013-6015)aCc>aAc	p.T2005N	MED12_uc011mpq.1_Missense_Mutation_p.T1980N|MED12_uc004dyz.3_Missense_Mutation_p.T2004N|MED12_uc004dza.3_Missense_Mutation_p.T1855N|MED12_uc010nla.3_Missense_Mutation_p.T634N	NM_005120	NP_005111	Q93074	MED12_HUMAN	Homo sapiens mediator complex subunit 12 (MED12), mRNA.	2005	Gln-rich.|Interaction with CTNNB1 and GLI3.				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)					CAGGCCCCCACCTATGGACAT	0.547			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome					
TBX22	50945	broad.mit.edu	37	X	79282236	79282236	+	Silent	SNP	C	C	A			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chrX:79282236C>A	uc010nmg.1	+	5	801	c.667C>A	c.(667-669)Cga>Aga	p.R223R	TBX22_uc004edi.1_Silent_p.R103R|TBX22_uc004edj.1_Silent_p.R223R	NM_001109878	NP_001103349	Q9Y458	TBX22_HUMAN	Homo sapiens T-box 22 (TBX22), transcript variant 1, mRNA.	223					multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.R223*(2)|p.P222H(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						GTACAAACCCCGAGTGCACGT	0.453												
KLHL4	56062	broad.mit.edu	37	X	86890583	86890583	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chrX:86890583G>A	uc004efa.2	+	8	1915	c.1733G>A	c.(1732-1734)cGt>cAt	p.R578H	KLHL4_uc004efb.2_Missense_Mutation_p.R578H	NM_057162	NP_476503	Q9C0H6	KLHL4_HUMAN	Homo sapiens kelch-like 4 (Drosophila) (KLHL4), transcript variant 2, mRNA.	578						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						ATTGGTGGACGTGATGGAAGT	0.393												
PCDH11X	27328	broad.mit.edu	37	X	91133806	91133806	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chrX:91133806C>T	uc004efk.2	+	1	3412	c.2567C>T	c.(2566-2568)aCc>aTc	p.T856I	PCDH11X_uc004efl.2_Missense_Mutation_p.T856I|PCDH11X_uc010nmv.2_Missense_Mutation_p.T856I|PCDH11X_uc004efm.2_Missense_Mutation_p.T856I|PCDH11X_uc004efn.2_Missense_Mutation_p.T856I|PCDH11X_uc004efo.2_Missense_Mutation_p.T856I|PCDH11X_uc004efh.2_Missense_Mutation_p.T856I|PCDH11X_uc004efj.1_Missense_Mutation_p.T856I	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	Homo sapiens protocadherin 11 X-linked (PCDH11X), transcript variant c, mRNA.	856					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						GAATGGGCTACCCCAAACCCA	0.403												
TAF7L	54457	broad.mit.edu	37	X	100541563	100541563	+	Missense_Mutation	SNP	G	G	A	rs149116664		TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chrX:100541563G>A	uc004ehb.3	-	3	429	c.403_splice	c.e3+1	p.P135_splice	TAF7L_uc004eha.3_Splice_Site_p.P49_splice|TAF7L_uc004ehc.2_Splice_Site_p.P49_splice	NM_024885	NP_001161946	Q5H9L4	TAF7L_HUMAN	Homo sapiens TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa (TAF7L), transcript variant 1, mRNA.	135					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding			NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						AACTACTTACGCAATAAGTCA	0.333												
ACSL4	2182	broad.mit.edu	37	X	108924259	108924259	+	Nonsense_Mutation	SNP	G	G	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chrX:108924259G>T	uc004eoi.2	-	6	1251	c.746C>A	c.(745-747)tCa>tAa	p.S249*	ACSL4_uc004eoj.2_Nonsense_Mutation_p.S208*|ACSL4_uc004eok.2_Nonsense_Mutation_p.S208*|ACSL4_uc010npp.1_Nonsense_Mutation_p.S249*	NM_022977	NP_004449	O60488	ACSL4_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 4 (ACSL4), transcript variant 2, mRNA.	249					fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Troglitazone(DB00197)	CTCTTCTACTGATTGCATGCT	0.333												
UPF3B	65109	broad.mit.edu	37	X	118975081	118975084	+	Frame_Shift_Del	DEL	TCTG	TCTG	-	rs142862074	byFrequency	TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chrX:118975081_118975084delTCTG	uc004erz.2	-	6	862_865	c.762_765delCAGA	c.(760-765)gacagafs	p.D254fs	UPF3B_uc004esa.2_Frame_Shift_Del_p.D254fs	NM_080632	NP_542199	Q9BZI7	REN3B_HUMAN	Homo sapiens UPF3 regulator of nonsense transcripts homolog B (yeast) (UPF3B), transcript variant 1, mRNA.	254	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	p.R255K(2)		breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1)	30						TTTCTGGAATTCTGTCTATCTTCT	0.328												
DCAF12L1	139170	broad.mit.edu	37	X	125685564	125685564	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chrX:125685564G>A	uc022cds.1	-	0	1028	c.1028C>T	c.(1027-1029)cCc>cTc	p.P343L	DCAF12L1_uc004eul.3_Missense_Mutation_p.P343L	NM_178470	NP_848565	Q5VU92	DC121_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 12-like 1 (DCAF12L1), mRNA.	343										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						AGAACACAGGGGCCGGATGTT	0.602												
MST4	51765	broad.mit.edu	37	X	131207025	131207025	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chrX:131207025C>T	uc004ewk.1	+	10	1431	c.1130C>T	c.(1129-1131)gCg>gTg	p.A377V	MST4_uc004ewl.1_Missense_Mutation_p.A300V|MST4_uc011mux.1_Missense_Mutation_p.A399V|MST4_uc010nrj.1_Missense_Mutation_p.A353V|MST4_uc004ewm.1_Missense_Mutation_p.A315V	NM_016542	NP_057626	Q9P289	MST4_HUMAN	Homo sapiens serine/threonine protein kinase MST4 (MST4), transcript variant 1, mRNA.	377					cellular component disassembly involved in apoptosis|regulation of apoptosis	cytosol|Golgi membrane	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(192;0.000127)					AGGAATCAGGCGATTGAAGAA	0.358