Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
MFSD6L	162387	broad.mit.edu	37	17	8700817	8700817	+	Missense_Mutation	SNP	A	A	T			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr17:8700817A>T	ENST00000329805.4	-	1	1850	c.1622T>A	c.(1621-1623)aTa>aAa	p.I541K		NM_152599.3	NP_689812.3	Q8IWD5	MFS6L_HUMAN	major facilitator superfamily domain containing 6-like	541						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4)	17						CCTCCGCTGTATGGACAGGAG	0.597000													18	28					0	0	1	0	0
ANAPC1	64682	broad.mit.edu	37	2	112608431	112608431	+	Silent	SNP	T	T	C			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr2:112608431T>C	ENST00000341068.3	-	14	2344	c.1572A>G	c.(1570-1572)acA>acG	p.T524T		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	524					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						GCCGAGGCATTGTGTTGGACA	0.433000													32	41					0	0	1	0	0
CCDC85A	114800	broad.mit.edu	37	2	56599510	56599510	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr2:56599510G>C	ENST00000407595.2	+	4	1851	c.1349G>C	c.(1348-1350)aGa>aCa	p.R450T	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	450										breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CCTCCAACTAGAAACAGCTCA	0.493000													4	3					0	0	1	0	0
SCNN1A	6337	broad.mit.edu	37	12	6458149	6458149	+	Missense_Mutation	SNP	G	G	A	rs148959452	byFrequency	TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr12:6458149G>A	ENST00000358945.3	-	11	2026	c.1586C>T	c.(1585-1587)tCg>tTg	p.S529L	SCNN1A_ENST00000228916.2_Missense_Mutation_p.S507L|SCNN1A_ENST00000540037.1_Missense_Mutation_p.S207L|SCNN1A_ENST00000396966.2_Missense_Mutation_p.R488C|SCNN1A_ENST00000360168.3_Missense_Mutation_p.S566L|SCNN1A_ENST00000543768.1_Missense_Mutation_p.S530L			P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	507					excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	GTTCTGTCGCGATAGCATCTG	0.493000													130	204					0	0	1	0	0
ZNF385B	151126	broad.mit.edu	37	2	180634325	180634325	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr2:180634325G>C	ENST00000410066.1	-	3	761	c.158C>G	c.(157-159)tCc>tGc	p.S53C		NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B	53						nucleus	nucleic acid binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			TTTGCCGTTGGAATGCACCTG	0.567000													24	52					0	0	1	0	0
TRPM1	4308	broad.mit.edu	37	15	31362231	31362231	+	Silent	SNP	C	C	A			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr15:31362231C>A	ENST00000559179.1	-	3	349	c.216G>T	c.(214-216)gtG>gtT	p.V72V	TRPM1_ENST00000397795.2_Intron|TRPM1_ENST00000256552.6_Intron|TRPM1_ENST00000542188.1_Intron	NM_001252030.1	NP_001238959.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	0			Y -> C (in CSNB1C).		cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		ATGCCTTTCTCACCATGGCTT	0.507000													74	422					2.84431e-33	3.11096e-33	1	1	0
FBXO28	23219	broad.mit.edu	37	1	224345127	224345127	+	Silent	SNP	C	C	T			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr1:224345127C>T	ENST00000366862.5	+	5	829	c.786C>T	c.(784-786)acC>acT	p.T262T	FBXO28_ENST00000424254.2_3'UTR	NM_015176.3	NP_055991.1	Q9NVF7	FBX28_HUMAN	F-box protein 28	262										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(2)|skin(1)	10	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.0363)		AAGAGGTTACCAAACTCCAGC	0.468000													40	89					0	0	1	0	0
PDS5B	23047	broad.mit.edu	37	13	33332272	33332272	+	Missense_Mutation	SNP	A	A	G			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr13:33332272A>G	ENST00000315596.10	+	27	3290	c.3104A>G	c.(3103-3105)aAc>aGc	p.N1035S		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	1035					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		AATGAAAATAACAGTCACGCT	0.274000													24	22					0	0	1	0	0
CEP192	55125	broad.mit.edu	37	18	13099569	13099569	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr18:13099569G>A	ENST00000506447.1	+	37	6732	c.6652G>A	c.(6652-6654)Gat>Aat	p.D2218N	CEP192_ENST00000540847.2_3'UTR|CEP192_ENST00000325971.8_Missense_Mutation_p.D1622N|CEP192_ENST00000430049.2_Missense_Mutation_p.D1743N	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	1813										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						ACACTGTGACGATGGACAGAA	0.343000													16	89					0	0	1	0	0
C1orf200	644997	broad.mit.edu	37	1	9714467	9714467	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr1:9714467G>C	ENST00000377320.3	-	1	177	c.28C>G	c.(28-30)Ctt>Gtt	p.L10V	PIK3CD_ENST00000536656.1_Intron|PIK3CD_ENST00000377346.4_Intron					chromosome 1 open reading frame 200											endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)	9	all_lung(157;0.222)	Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.86e-08)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(185;0.000231)|KIRC - Kidney renal clear cell carcinoma(229;0.000879)|BRCA - Breast invasive adenocarcinoma(304;0.00178)|STAD - Stomach adenocarcinoma(132;0.00331)|READ - Rectum adenocarcinoma(331;0.0419)		GCTGTGCTAAGAACAGGGCAG	0.582000													11	27					0	0	1	0	0
COA1	55744	broad.mit.edu	37	7	43684939	43684939	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr7:43684939C>T	ENST00000395879.1	-	3	1856	c.175G>A	c.(175-177)Gag>Aag	p.E59K	COA1_ENST00000223336.6_Missense_Mutation_p.E59K|COA1_ENST00000395880.3_Missense_Mutation_p.E59K|COA1_ENST00000310564.6_Missense_Mutation_p.E59K					cytochrome c oxidase assembly factor 1 homolog (S. cerevisiae)																		TCCTGTGCCTCGGGATGGCTC	0.463000													13	30					0	0	1	0	0
KRTAP21-2	337978	broad.mit.edu	37	21	32119279	32119279	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr21:32119279G>C	ENST00000333892.2	-	1	272	c.242C>G	c.(241-243)tCt>tGt	p.S81C		NM_181617.1	NP_853648.1	Q3LI59	KR212_HUMAN	keratin associated protein 21-2	81						intermediate filament				lung(4)|skin(2)|upper_aerodigestive_tract(1)	7						TTAGTAGCAAGAGGAATAGCA	0.468000													45	70					0	0	1	0	0
SEMA7A	8482	broad.mit.edu	37	15	74707003	74707003	+	Silent	SNP	G	G	A			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr15:74707003G>A	ENST00000261918.4	-	10	1727	c.1179C>T	c.(1177-1179)ccC>ccT	p.P393P	SEMA7A_ENST00000543145.2_Silent_p.P379P|SEMA7A_ENST00000542748.1_Silent_p.P228P	NM_003612.3	NP_003603.1	O75326	SEM7A_HUMAN	semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)	393	Sema.				axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of axon extension|positive regulation of ERK1 and ERK2 cascade|positive regulation of macrophage cytokine production|regulation of inflammatory response	anchored to membrane|external side of plasma membrane	receptor activity			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						GAGGCCCCATGGGCTCCACCC	0.612000													37	59					0	0	1	0	0
IKZF2	22807	broad.mit.edu	37	2	213914523	213914523	+	Missense_Mutation	SNP	G	G	T			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr2:213914523G>T	ENST00000457361.1	-	5	656	c.488C>A	c.(487-489)tCt>tAt	p.S163Y	IKZF2_ENST00000342002.2_Missense_Mutation_p.S169Y|IKZF2_ENST00000451136.2_Missense_Mutation_p.S137Y|IKZF2_ENST00000413091.3_Missense_Mutation_p.S163Y|IKZF2_ENST00000374319.4_Missense_Mutation_p.S137Y|IKZF2_ENST00000421754.2_Missense_Mutation_p.S137Y|IKZF2_ENST00000374327.4_Intron|IKZF2_ENST00000434687.1_Missense_Mutation_p.S163Y	NM_016260.2	NP_057344.2	Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	163					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		CTTCTCTCCAGAGTGTAACTT	0.493000													20	28					1.55795e-14	1.65237e-14	1	1	0
RHOB	388	broad.mit.edu	37	2	20647740	20647740	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr2:20647740G>A	ENST00000272233.4	+	1	906	c.514G>A	c.(514-516)Gag>Aag	p.E172K		NM_004040.2	NP_004031.1	P62745	RHOB_HUMAN	ras homolog family member B	172					angiogenesis|axon guidance|cell adhesion|endosome to lysosome transport|negative regulation of cell cycle|platelet activation|positive regulation of angiogenesis|protein transport|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|transformed cell apoptosis	cytosol|late endosome membrane|nucleus|plasma membrane	GTP binding|GTPase activity|protein binding			breast(1)|kidney(1)|lung(2)|ovary(1)|urinary_tract(2)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)	all_epithelial(98;4.19e-09)|Lung NSC(108;0.00452)|Ovarian(717;0.0164)		OV - Ovarian serous cystadenocarcinoma(76;1.14e-22)|Epithelial(75;7.84e-19)		CGAGGTCTTCGAGACGGCCAC	0.687000													52	52					0	0	1	0	0
MROH5	389690	broad.mit.edu	37	8	142490057	142490057	+	RNA	SNP	G	G	A			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr8:142490057G>A	ENST00000430863.1	-	0	1008					NM_207414.2	NP_997297.2			maestro heat-like repeat family member 5																		AGGGCTTGCAGGTGTCTCCTG	0.592000													23	49					0	0	1	0	0
TIMM44	10469	broad.mit.edu	37	19	7997758	7997758	+	Missense_Mutation	SNP	G	G	A	rs41539862		TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr19:7997758G>A	ENST00000270538.3	-	8	1097	c.829C>T	c.(829-831)Cgg>Tgg	p.R277W		NM_006351.3	NP_006342.2	O43615	TIM44_HUMAN	translocase of inner mitochondrial membrane 44 homolog (yeast)	277					protein targeting to mitochondrion	mitochondrial inner membrane presequence translocase complex|mitochondrial matrix	ATP binding|P-P-bond-hydrolysis-driven protein transmembrane transporter activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	17						GTAAGGGCCCGGGATGCCCGG	0.627000													5	80					0	0	1	0	0
PACS2	23241	broad.mit.edu	37	14	105843150	105843150	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr14:105843150G>A	ENST00000447393.1	+	9	1022	c.847G>A	c.(847-849)Gag>Aag	p.E283K	PACS2_ENST00000325438.8_Missense_Mutation_p.E283K|PACS2_ENST00000547217.1_Missense_Mutation_p.E253K|PACS2_ENST00000458164.2_Missense_Mutation_p.E283K|PACS2_ENST00000430725.2_Missense_Mutation_p.E208K	NM_015197.3	NP_056012.2	Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	283					apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		CCCCGAGGCAGAGGAGGACCT	0.662000													10	24					0	0	1	0	0
PCK1	5105	broad.mit.edu	37	20	56138777	56138777	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr20:56138777G>A	ENST00000319441.4	+	6	1119	c.955G>A	c.(955-957)Gca>Aca	p.A319T	PCK1_ENST00000543666.1_Intron|PCK1_ENST00000535860.1_Missense_Mutation_p.A187T	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	319					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)			GAAGTTTGACGCACAAGGTGA	0.542000													36	62					0	0	1	0	0
PAX7	5081	broad.mit.edu	37	1	19062184	19062184	+	Missense_Mutation	SNP	C	C	A			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr1:19062184C>A	ENST00000420770.2	+	8	1297	c.1214C>A	c.(1213-1215)tCc>tAc	p.S405Y	PAX7_ENST00000400661.3_Missense_Mutation_p.S403Y|PAX7_ENST00000375375.3_Missense_Mutation_p.S405Y	NM_001135254.1	NP_001128726.1	P23759	PAX7_HUMAN	paired box 7	405					anti-apoptosis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX7/FOXO1(197)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		GCTGACTTCTCCATCTCCCCG	0.657000			T	FOXO1A	alveolar rhabdomyosarcoma								25	38					4.59853e-10	4.76884e-10	1	1	0
IGKV2D-24	28885	broad.mit.edu	37	2	90044268	90044268	+	RNA	SNP	G	G	A			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr2:90044268G>A	ENST00000462693.1	+	0	219																											GGCTTCAGCAGAGGCCAGGCC	0.542000													44	108					0	0	1	0	0
MTG1	92170	broad.mit.edu	37	10	135213089	135213089	+	Silent	SNP	C	C	A			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr10:135213089C>A	ENST00000468317.2	+	7	747	c.492C>A	c.(490-492)ctC>ctA	p.L164L	MTG1_ENST00000317502.6_Silent_p.L159L|MTG1_ENST00000477902.2_Silent_p.L118L														p.L159L(1)									AGTCCTCCCTCATCAACTCCC	0.622000													16	40					2.39187e-15	2.5562e-15	1	1	0
SLC30A8	169026	broad.mit.edu	37	8	118159214	118159214	+	Translation_Start_Site	SNP	G	G	A			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr8:118159214G>A	ENST00000427715.2	+	0	380				SLC30A8_ENST00000521243.1_De_novo_Start_InFrame|SLC30A8_ENST00000521035.1_3'UTR|SLC30A8_ENST00000519688.1_De_novo_Start_InFrame|SLC30A8_ENST00000456015.2_Silent_p.P31P	NM_001172813.1|NM_001172815.1	NP_001166284.1|NP_001166286.1	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8						insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			AACAGAAACCGGTGAATAAAG	0.517000													16	28					0	0	1	0	0
C19orf24	55009	broad.mit.edu	37	19	1279058	1279058	+	Silent	SNP	C	C	T			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr19:1279058C>T	ENST00000469144.1	+	3	558	c.249C>T	c.(247-249)acC>acT	p.T83T	C19orf24_ENST00000409293.4_3'UTR			Q9BVV8	CS024_HUMAN	chromosome 19 open reading frame 24	46						cytoplasm|extracellular region part|integral to membrane							Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000332)|all_lung(49;0.000498)|Breast(49;0.0014)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAACAGCCACCGCCCAGGACG	0.682000													27	55					0	0	1	0	0
PTPN13	5783	broad.mit.edu	37	4	87672041	87672041	+	Splice_Site	SNP	G	G	T			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr4:87672041G>T	ENST00000436978.1	+	18	3548		c.e18+1		PTPN13_ENST00000427191.2_Splice_Site|PTPN13_ENST00000316707.6_Intron|PTPN13_ENST00000411767.2_Splice_Site|PTPN13_ENST00000511467.1_Splice_Site	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)							cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		AACTTAATAAGTAAGAACATA	0.333000													7	8					8.12818e-05	8.24598e-05	1	1	0
TRH	7200	broad.mit.edu	37	3	129695943	129695943	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr3:129695943C>G	ENST00000302649.3	+	3	1140	c.613C>G	c.(613-615)Caa>Gaa	p.Q205E	TRH_ENST00000507066.1_Missense_Mutation_p.Q201E	NM_007117.3	NP_009048.1	P20396	TRH_HUMAN	thyrotropin-releasing hormone	205					cell-cell signaling|hormone-mediated signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|thyrotropin-releasing hormone activity			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						AGCCTATGGTCAAGCGGGCCT	0.652000													11	24					0	0	1	0	0
ZSWIM5	57643	broad.mit.edu	37	1	45671483	45671483	+	Silent	SNP	G	G	A			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr1:45671483G>A	ENST00000359600.5	-	1	745	c.540C>T	c.(538-540)ttC>ttT	p.F180F	ZSWIM5_ENST00000464588.1_Intron	NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	180							zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					TGCCCCGGCGGAACGGGAGCC	0.761000													3	6					0	0	1	0	0
MDK	4192	broad.mit.edu	37	11	46403911	46403911	+	Missense_Mutation	SNP	C	C	A			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr11:46403911C>A	ENST00000405308.2	+	3	573	c.144C>A	c.(142-144)agC>agA	p.S48R	MDK_ENST00000395565.1_Missense_Mutation_p.S48R|MDK_ENST00000395569.4_Intron|MDK_ENST00000359803.3_Missense_Mutation_p.S48R|MDK_ENST00000395566.4_Missense_Mutation_p.S48R|MDK_ENST00000407067.1_Missense_Mutation_p.S48R|MDK_ENST00000533283.1_3'UTR	NM_001270550.1	NP_001257479.1	P21741	MK_HUMAN	midkine (neurite growth-promoting factor 2)	48					adrenal gland development|cell differentiation|nervous system development|positive regulation of cell division|response to wounding|signal transduction	extracellular region	growth factor activity|heparin binding			lung(1)	1				GBM - Glioblastoma multiforme(35;0.0252)|Lung(87;0.14)		GCACCCCCAGCAGCAAGGATT	0.667000													5	4					8.12818e-05	8.24598e-05	1	1	0
CNBD1	168975	broad.mit.edu	37	8	88218341	88218341	+	Silent	SNP	C	C	T			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr8:88218341C>T	ENST00000518476.1	+	5	603	c.552C>T	c.(550-552)tcC>tcT	p.S184S	CNBD1_ENST00000522427.1_3'UTR	NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	184										breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						CTGTCTTTTCCGAAACCTGGT	0.368000													13	17					0	0	1	0	0
TMEM151A	256472	broad.mit.edu	37	11	66061952	66061952	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr11:66061952G>A	ENST00000327259.4	+	2	379	c.235G>A	c.(235-237)Gcc>Acc	p.A79T		NM_153266.3	NP_694998.1	Q8N4L1	T151A_HUMAN	transmembrane protein 151A	79						integral to membrane				central_nervous_system(1)|kidney(4)|lung(6)	11						GGCCGCCTTGGCCCGGGGAGC	0.736000													3	4					0	0	1	0	0
AKAP6	9472	broad.mit.edu	37	14	33015866	33015866	+	Nonsense_Mutation	SNP	G	G	A			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr14:33015866G>A	ENST00000280979.4	+	4	2177	c.2007G>A	c.(2005-2007)tgG>tgA	p.W669*	AKAP6_ENST00000557354.1_Nonsense_Mutation_p.W669*|AKAP6_ENST00000557272.1_Nonsense_Mutation_p.W669*	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	669					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TTGATGACTGGGAACTGTCTG	0.418000													33	37					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228883352	228883352	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr2:228883352C>T	ENST00000392056.3	-	7	2264	c.2218G>A	c.(2218-2220)Gag>Aag	p.E740K	SPHKAP_ENST00000344657.5_Missense_Mutation_p.E740K	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	740						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CTGATGGTCTCCTTAGAAAGG	0.478000													43	70					0	0	1	0	0
KIAA1549	57670	broad.mit.edu	37	7	138603284	138603284	+	Nonsense_Mutation	SNP	G	G	C			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr7:138603284G>C	ENST00000440172.1	-	2	1136	c.1088C>G	c.(1087-1089)tCa>tGa	p.S363*	KIAA1549_ENST00000242365.4_Nonsense_Mutation_p.S313*|KIAA1549_ENST00000422774.1_Nonsense_Mutation_p.S363*	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	363						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						AAGAGGAGTTGAAAGCAATGG	0.478000			O	BRAF	pilocytic astrocytoma								44	65					0	0	1	0	0
DHRS4L1	728635	broad.mit.edu	37	14	24507006	24507006	+	RNA	SNP	C	C	T			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr14:24507006C>T	ENST00000558293.1	+	0	176					NR_102693.1																						ACGTGGTAGTCAGCCGCCGGA	0.637000													15	28					0	0	1	0	0
OR8I2	120586	broad.mit.edu	37	11	55860925	55860925	+	Missense_Mutation	SNP	T	T	G			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr11:55860925T>G	ENST00000302124.2	+	1	173	c.142T>G	c.(142-144)Tta>Gta	p.L48V		NM_001003750.1	NP_001003750.1	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	48					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					ACTGATCACGTTAATCAGAAT	0.378000													82	101					0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20569184	20569184	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr4:20569184C>T	ENST00000504154.1	+	28	3146	c.2894C>T	c.(2893-2895)cCa>cTa	p.P965L	SLIT2_ENST00000503823.1_Missense_Mutation_p.P957L|SLIT2_ENST00000503837.1_Missense_Mutation_p.P961L|SLIT2_ENST00000273739.5_Missense_Mutation_p.P969L	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	965	EGF-like 2.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						ATCAGTAACCCATGTAAACAT	0.453000													27	51					0	0	1	0	0
BTBD2	55643	broad.mit.edu	37	19	1990104	1990104	+	Missense_Mutation	SNP	C	C	A			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr19:1990104C>A	ENST00000255608.4	-	5	903	c.887G>T	c.(886-888)cGg>cTg	p.R296L	AC005306.3_ENST00000587498.1_RNA|AC005306.3_ENST00000588480.1_RNA	NM_017797.3	NP_060267.2	Q9BX70	BTBD2_HUMAN	BTB (POZ) domain containing 2	296						cytoplasmic mRNA processing body	protein binding			endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)	12		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGCTGCTGCCGCTGACACTC	0.642000													8	21					0.00448238	0.00453093	1	1	0
POTEG	404785	broad.mit.edu	37	14	19553823	19553823	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr14:19553823G>A	ENST00000409832.3	+	1	459	c.407G>A	c.(406-408)cGt>cAt	p.R136H		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	136								p.R136H(1)		cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						TACCACGTCCGTCGAGAAGAT	0.577000													9	203					0	0	1	0	0
FZD1	8321	broad.mit.edu	37	7	90894810	90894810	+	Silent	SNP	C	C	T			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr7:90894810C>T	ENST00000287934.2	+	1	1028	c.615C>T	c.(613-615)ttC>ttT	p.F205F		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled family receptor 1	205	FZ.				autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			TGAACAAGTTCGGCTTCCAGT	0.692000													21	36					0	0	1	0	0
PLCH1	23007	broad.mit.edu	37	3	155199338	155199338	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr3:155199338C>G	ENST00000460012.1	-	23	4744	c.4387G>C	c.(4387-4389)Gag>Cag	p.E1463Q	PLCH1_ENST00000414191.1_Missense_Mutation_p.E1463Q|PLCH1_ENST00000340059.7_Missense_Mutation_p.E1501Q|PLCH1_ENST00000334686.6_Missense_Mutation_p.E1463Q|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000447496.2_3'UTR			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1501					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GCAATGTCCTCTGATGTTAAG	0.448000													30	38					0	0	1	0	0
VPS33A	65082	broad.mit.edu	37	12	122729212	122729212	+	Silent	SNP	A	A	G	rs143872563		TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr12:122729212A>G	ENST00000267199.4	-	7	985	c.873T>C	c.(871-873)tcT>tcC	p.S291S	RP11-512M8.5_ENST00000535844.1_Silent_p.S252S	NM_022916.4	NP_075067.2	Q96AX1	VP33A_HUMAN	vacuolar protein sorting 33 homolog A (S. cerevisiae)	291					lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		GCTCCTCTGCAGAATTCAGCT	0.483000													32	49					0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41522339	41522339	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr8:41522339C>T	ENST00000457297.1	-	1	465	c.203G>A	c.(202-204)cGg>cAg	p.R68Q	ANK1_ENST00000352337.4_Intron|ANK1_ENST00000396945.1_Intron|ANK1_ENST00000396942.1_Intron|ANK1_ENST00000347528.4_Intron|ANK1_ENST00000314214.8_Missense_Mutation_p.R68Q|ANK1_ENST00000379758.2_Intron|ANK1_ENST00000289734.7_Intron|ANK1_ENST00000522231.1_Missense_Mutation_p.R68Q|ANK1_ENST00000265709.8_Intron|ANK1_ENST00000522543.1_Missense_Mutation_p.R68Q|RP11-930P14.1_ENST00000522388.1_RNA	NM_020480.4	NP_065213.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1798	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GAAGACCCGCCGCCGGACCAC	0.682000													6	2					0	0	1	0	0
EGLN2	112398	broad.mit.edu	37	19	41307023	41307023	+	Silent	SNP	C	C	T			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr19:41307023C>T	ENST00000593726.1	+	1	1574	c.546C>T	c.(544-546)atC>atT	p.I182I	RAB4B-EGLN2_ENST00000594136.1_3'UTR|EGLN2_ENST00000303961.4_Silent_p.I182I|EGLN2_ENST00000406058.2_Silent_p.I182I			Q96KS0	EGLN2_HUMAN	egl-9 family hypoxia-inducible factor 2	182					cell redox homeostasis|estrogen receptor signaling pathway|positive regulation of protein catabolic process|regulation of cell growth|response to hypoxia	cytoplasm|nucleus	ferrous iron binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|oxygen sensor activity			breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Vitamin C(DB00126)	TGGACTATATCGTGCCCTGCA	0.677000													60	100					0	0	1	0	0
ETV6	2120	broad.mit.edu	37	12	12037420	12037420	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr12:12037420G>A	ENST00000396373.4	+	6	1325	c.1051G>A	c.(1051-1053)Gac>Aac	p.D351N		NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6	351						cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.D351H(1)	ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				GTTGCTTTCTGACAGCCGGTA	0.453000			T	"""NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"""	"""congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"""								67	108					0	0	1	0	0
PHLDB2	90102	broad.mit.edu	37	3	111658336	111658336	+	Silent	SNP	G	G	A			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr3:111658336G>A	ENST00000431670.2	+	7	2556	c.2145G>A	c.(2143-2145)ttG>ttA	p.L715L	PHLDB2_ENST00000412622.1_Silent_p.L672L|PHLDB2_ENST00000495180.1_Silent_p.L301L|PHLDB2_ENST00000393925.3_Silent_p.L715L|PHLDB2_ENST00000393923.3_Silent_p.L699L|PHLDB2_ENST00000481953.1_Silent_p.L672L	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	715						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						CTGACCTGTTGGATGTTGAAA	0.413000													42	57					0	0	1	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													4	57					0	0	1	0	0
ADCY9	115	broad.mit.edu	37	16	4016706	4016706	+	Silent	SNP	C	C	T			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr16:4016706C>T	ENST00000294016.3	-	11	3670	c.3132G>A	c.(3130-3132)ctG>ctA	p.L1044L		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	1044					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GGGACACCTTCAGCTGCTCAG	0.582000													55	87					0	0	1	0	0
CAMK2B	816	broad.mit.edu	37	7	44259781	44259781	+	Silent	SNP	G	G	A			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr7:44259781G>A	ENST00000395749.2	-	23	1957	c.1881C>T	c.(1879-1881)gaC>gaT	p.D627D	CAMK2B_ENST00000395747.2_Silent_p.D479D|CAMK2B_ENST00000258682.6_Silent_p.D478D|CAMK2B_ENST00000358707.3_Silent_p.D464D|CAMK2B_ENST00000346990.4_Silent_p.D410D|CAMK2B_ENST00000440254.2_Silent_p.D503D|CAMK2B_ENST00000353625.4_Silent_p.D440D|CAMK2B_ENST00000347193.4_Silent_p.D453D|CAMK2B_ENST00000457475.1_Silent_p.D479D|CAMK2B_ENST00000489429.1_5'UTR|CAMK2B_ENST00000502837.2_3'UTR|CAMK2B_ENST00000350811.3_Silent_p.D503D	NM_001220.4	NP_001211.3	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II beta	627					interferon-gamma-mediated signaling pathway|synaptic transmission	cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						GGCCCTGCCCGTCAATGTACT	0.657000													13	17					0	0	1	0	0
CLUAP1	23059	broad.mit.edu	37	16	3582789	3582789	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr16:3582789G>C	ENST00000571025.1	+	11	1090	c.1040G>C	c.(1039-1041)aGa>aCa	p.R347T	CLUAP1_ENST00000445795.2_Missense_Mutation_p.R106T|CLUAP1_ENST00000572600.1_Missense_Mutation_p.R181T|CLUAP1_ENST00000417763.2_Missense_Mutation_p.R181T|CLUAP1_ENST00000341633.5_Missense_Mutation_p.R347T|CLUAP1_ENST00000576634.1_Missense_Mutation_p.R347T			Q96AJ1	CLUA1_HUMAN	clusterin associated protein 1	347						nucleus	protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(2)	16						TTCTCAGGAAGACCTGGCAAA	0.468000													14	17					0	0	1	0	0
NANOGP1	404635	broad.mit.edu	37	12	8048209	8048209	+	RNA	SNP	G	G	A			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr12:8048209G>A	ENST00000607111.1	+	0	137																				kidney(1)|lung(4)|prostate(1)	6						TCAAGAAACAGAAGACCAGAA	0.473000													19	34					0	0	1	0	0
OSBP2	23762	broad.mit.edu	37	22	31286725	31286725	+	Missense_Mutation	SNP	A	A	G			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr22:31286725A>G	ENST00000332585.6	+	8	1738	c.1634A>G	c.(1633-1635)aAt>aGt	p.N545S	OSBP2_ENST00000437268.2_Missense_Mutation_p.N287S|OSBP2_ENST00000401475.1_Missense_Mutation_p.N178S|OSBP2_ENST00000407373.1_Missense_Mutation_p.N372S|OSBP2_ENST00000535268.1_Missense_Mutation_p.N89S|OSBP2_ENST00000403222.3_Missense_Mutation_p.N379S|OSBP2_ENST00000382310.3_Missense_Mutation_p.N496S|OSBP2_ENST00000446658.2_Missense_Mutation_p.N544S	NM_001282739.1|NM_001282740.1|NM_001282741.1|NM_001282742.1|NM_030758.3	NP_001269668.1|NP_001269669.1|NP_001269670.1|NP_001269671.1|NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	545					lipid transport	membrane	lipid binding			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						GTGAACTTCAATGAGCCCCTG	0.612000											OREG0026467	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	15					0	0	1	0	0
ZNF43	7594	broad.mit.edu	37	19	21991719	21991719	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr19:21991719C>G	ENST00000594012.1	-	7	1616	c.1102G>C	c.(1102-1104)Gaa>Caa	p.E368Q	ZNF43_ENST00000598381.1_Missense_Mutation_p.E368Q|ZNF43_ENST00000595461.1_Missense_Mutation_p.E368Q|ZNF43_ENST00000354959.4_Missense_Mutation_p.E374Q	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN	zinc finger protein 43	374					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		TCACCACATTCTGTACATTTA	0.368000													40	66					0	0	1	0	0
ZFAND1	79752	broad.mit.edu	37	8	82630460	82630460	+	Splice_Site	SNP	C	C	G			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr8:82630460C>G	ENST00000220669.5	-	2	74		c.e2-1		ZFAND1_ENST00000522520.1_Splice_Site|ZFAND1_ENST00000519523.1_Splice_Site|ZFAND1_ENST00000517588.1_Splice_Site|ZFAND1_ENST00000521895.1_Splice_Site|ZFAND1_ENST00000523096.1_Splice_Site|ZFAND1_ENST00000521287.1_Splice_Site	NM_024699.2	NP_078975.2	Q8TCF1	ZFAN1_HUMAN	zinc finger, AN1-type domain 1								zinc ion binding			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						GGAAGAAAATCTAAAATTGAG	0.299000													27	56					0	0	1	0	0
CCDC82	79780	broad.mit.edu	37	11	96117902	96117902	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr11:96117902C>T	ENST00000278520.5	-	3	438	c.10G>A	c.(10-12)Gtt>Att	p.V4I	CCDC82_ENST00000423339.2_Missense_Mutation_p.V4I|CCDC82_ENST00000542662.1_Missense_Mutation_p.V4I			Q8N4S0	CCD82_HUMAN	coiled-coil domain containing 82	4							protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.154)		TGTCTTCTAACATGTATCATT	0.323000													23	8					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114238913	114238913	+	Missense_Mutation	SNP	A	A	G			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr4:114238913A>G	ENST00000357077.4	+	25	2797	c.2744A>G	c.(2743-2745)tAc>tGc	p.Y915C	ANK2_ENST00000509550.1_Missense_Mutation_p.Y124C|ANK2_ENST00000506722.1_Missense_Mutation_p.Y894C|ANK2_ENST00000394537.3_Missense_Mutation_p.Y915C|ANK2_ENST00000264366.6_Missense_Mutation_p.Y915C	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	915					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CATGCCTCCTACCTGAGGGAC	0.517000													12	31					0	0	1	0	0
KIF1C	10749	broad.mit.edu	37	17	4926875	4926875	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr17:4926875C>T	ENST00000320785.5	+	23	3098	c.2741C>T	c.(2740-2742)cCc>cTc	p.P914L		NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	914					microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	endoplasmic reticulum|Golgi apparatus|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						GCCCGGCCCCCCTCGCCACCA	0.662000													20	21					0	0	1	0	0
MAP2	4133	broad.mit.edu	37	2	210588334	210588334	+	Missense_Mutation	SNP	A	A	C			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr2:210588334A>C	ENST00000199940.6	+	12	1632	c.1192A>C	c.(1192-1194)Aag>Cag	p.K398Q	MAP2_ENST00000361559.4_Intron|MAP2_ENST00000360351.4_Intron|MAP2_ENST00000475600.1_3'UTR|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000447185.1_Intron	NM_001039538.1	NP_001034627.1	P11137	MAP2_HUMAN	microtubule-associated protein 2	1674					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	GATTTTAAACAAGAAGATCGA	0.403000													15	37					0	0	1	0	0
PCDHA13	56136	broad.mit.edu	37	5	140262036	140262036	+	Silent	SNP	G	G	A			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr5:140262036G>A	ENST00000289272.2	+	1	183	c.183G>A	c.(181-183)ccG>ccA	p.P61P	PCDHA1_ENST00000394633.3_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA13_ENST00000409494.1_Silent_p.P61P|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1												p.P61P(1)		NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCTGGTGCCGCGCCTGTTCC	0.617000													40	16					0	0	1	0	0
PROX1	5629	broad.mit.edu	37	1	214171121	214171121	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr1:214171121G>A	ENST00000366958.4	+	2	1851	c.1243G>A	c.(1243-1245)Gtc>Atc	p.V415I	PROX1_ENST00000498508.2_Missense_Mutation_p.V415I|PROX1_ENST00000435016.1_Missense_Mutation_p.V415I|PROX1_ENST00000261454.4_Missense_Mutation_p.V415I	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	415					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		CTTTGGCGACGTCATCATTCC	0.567000													54	75					0	0	1	0	0
GINS4	84296	broad.mit.edu	37	8	41387763	41387763	+	Silent	SNP	G	G	T			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr8:41387763G>T	ENST00000523277.2	+	2	209	c.42G>T	c.(40-42)ggG>ggT	p.G14G	GINS4_ENST00000276533.3_Silent_p.G14G|GINS4_ENST00000518671.1_Silent_p.G14G|GINS4_ENST00000520710.1_Silent_p.G14G			Q9BRT9	SLD5_HUMAN	GINS complex subunit 4 (Sld5 homolog)	14					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle	cytoplasm|nucleoplasm				breast(1)|lung(2)|skin(1)	4	Ovarian(28;0.014)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.00732)|Lung NSC(58;0.0207)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	Colorectal(10;0.0014)|OV - Ovarian serous cystadenocarcinoma(14;0.00329)|LUSC - Lung squamous cell carcinoma(45;0.0137)|COAD - Colon adenocarcinoma(11;0.0147)			ACTCTGATGGGGGTAGTGAGG	0.473000													11	62					4.36969e-10	4.54838e-10	1	1	0
HIRA	7290	broad.mit.edu	37	22	19349417	19349417	+	Nonsense_Mutation	SNP	G	G	A			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr22:19349417G>A	ENST00000263208.5	-	16	2069	c.1813C>T	c.(1813-1815)Cga>Tga	p.R605*	HIRA_ENST00000546308.1_Nonsense_Mutation_p.R561*|HIRA_ENST00000340170.4_Intron|HIRA_ENST00000541063.1_Nonsense_Mutation_p.R561*	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	605	Interaction with CCNA1.|Interaction with PAX3 (By similarity).|Interaction with histone H2B.				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					AGGAGGTCTCGGGGCCTCAGC	0.478000													5	80					0	0	1	0	0
LTBP1	4052	broad.mit.edu	37	2	33335659	33335659	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr2:33335659C>G	ENST00000404816.2	+	4	1227	c.874C>G	c.(874-876)Ctt>Gtt	p.L292V	LTBP1_ENST00000354476.3_Missense_Mutation_p.L292V			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	292					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				AGTGACTCCTCTTTCTTCCCA	0.438000													22	42					0	0	1	0	0
ZNF607	84775	broad.mit.edu	37	19	38190605	38190605	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr19:38190605G>C	ENST00000355202.4	-	5	1022	c.427C>G	c.(427-429)Caa>Gaa	p.Q143E	CTD-2528L19.4_ENST00000586606.2_Intron|ZNF607_ENST00000395835.3_Missense_Mutation_p.Q142E	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	143					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			TTTTCACATTGATCAGGTTCC	0.373000													44	62					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228883152	228883152	+	Silent	SNP	C	C	T			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr2:228883152C>T	ENST00000392056.3	-	7	2464	c.2418G>A	c.(2416-2418)aaG>aaA	p.K806K	SPHKAP_ENST00000344657.5_Silent_p.K806K	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	806						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GCGTGGGGTTCTTGAAGAGGC	0.453000													113	187					0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	126138276	126138276	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr12:126138276G>A	ENST00000299308.3	+	9	2265	c.2257G>A	c.(2257-2259)Gaa>Aaa	p.E753K	TMEM132B_ENST00000535886.1_Missense_Mutation_p.E265K	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	753						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		TGCAGAGGGTGAAGGACAAGG	0.433000													29	45					0	0	1	0	0
IFT140	9742	broad.mit.edu	37	16	1613998	1613998	+	Splice_Site	SNP	C	C	T	rs143537808		TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr16:1613998C>T	ENST00000426508.2	-	17	2430	c.2067G>A	c.(2065-2067)gcG>gcA	p.A689A	IFT140_ENST00000439987.2_5'UTR	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140 homolog (Chlamydomonas)	689										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				CAGAGCGTACCGCAGGGCCAG	0.602000													20	49					0	0	1	0	0
MYCL	4610	broad.mit.edu	37	1	40363442	40363442	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr1:40363442G>A	ENST00000397332.2	-	3	911	c.787C>T	c.(787-789)Ccc>Tcc	p.P263S	RP1-118J21.5_ENST00000418255.1_RNA|MYCL_ENST00000372816.2_Missense_Mutation_p.P233S	NM_001033081.2|NM_001033082.2	NP_001028253.1|NP_001028254.2			v-myc avian myelocytomatosis viral oncogene lung carcinoma derived homolog																		TCTTCTTGGGGACCCCTCTCT	0.522000													24	98					0	0	1	0	0
MALAT1	378938	broad.mit.edu	37	11	65271987	65271987	+	RNA	SNP	G	G	C			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr11:65271987G>C	ENST00000534336.1	+	0	6755					NR_002819.2																						GATAAAGGCTGAGTGTTGAGG	0.363000													6	23					0	0	1	0	0
RAB6C	84084	broad.mit.edu	37	2	130738114	130738114	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr2:130738114G>C	ENST00000410061.2	+	1	880	c.426G>C	c.(424-426)gaG>gaC	p.E142D		NM_032144.2	NP_115520.2	Q9H0N0	RAB6C_HUMAN	RAB6C, member RAS oncogene family	142					protein transport|response to drug|small GTPase mediated signal transduction		GTP binding|GTPase activity			large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	5	Colorectal(110;0.1)					AGGAGGGAGAGAGGAAAGCCA	0.448000													59	109					0	0	1	0	0
CDH9	1007	broad.mit.edu	37	5	26988407	26988407	+	Missense_Mutation	SNP	A	A	G			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr5:26988407A>G	ENST00000231021.4	-	2	206	c.34T>C	c.(34-36)Tgg>Cgg	p.W12R		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	12					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						ATATAGGTCCAGATGAATAAT	0.348000													17	42					0	0	1	0	0
CLEC4G	339390	broad.mit.edu	37	19	7795029	7795029	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr19:7795029G>A	ENST00000328853.5	-	7	571	c.503C>T	c.(502-504)tCg>tTg	p.S168L		NM_001244856.1|NM_198492.3	NP_001231785.1|NP_940894.1	Q6UXB4	CLC4G_HUMAN	C-type lectin domain family 4, member G	168						integral to membrane	protein binding|sugar binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(1)	6						GGACAGCCACGACGTGGGGCA	0.662000													10	7					0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26377139	26377139	+	Missense_Mutation	SNP	A	A	G			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr10:26377139A>G	ENST00000265944.5	+	15	1533	c.1367A>G	c.(1366-1368)aAc>aGc	p.N456S	MYO3A_ENST00000543632.1_Missense_Mutation_p.N456S	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	456	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TAGGCTAATAACAGAACCTTG	0.274000													25	33					0	0	1	0	0
SNX8	29886	broad.mit.edu	37	7	2296602	2296602	+	Silent	SNP	C	C	T			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr7:2296602C>T	ENST00000222990.3	-	10	1233	c.1191G>A	c.(1189-1191)ctG>ctA	p.L397L		NM_013321.2	NP_037453.1	Q9Y5X2	SNX8_HUMAN	sorting nexin 8	397					cell communication|early endosome to Golgi transport|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(2)|skin(3)	26		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)		TCTCCTGGTGCAGGCAGTACA	0.622000													14	19					0	0	1	0	0
MBD5	55777	broad.mit.edu	37	2	149225969	149225969	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr2:149225969C>T	ENST00000407073.1	+	9	1454	c.457C>T	c.(457-459)Cat>Tat	p.H153Y	MBD5_ENST00000404807.1_Missense_Mutation_p.H153Y	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	153						chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		AAATAAGTCTCATGAAGGAAT	0.368000													18	40					0	0	1	0	0
GPR101	83550	broad.mit.edu	37	X	136113101	136113101	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chrX:136113101C>G	ENST00000298110.1	-	1	732	c.733G>C	c.(733-735)Gag>Cag	p.E245Q		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	245						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					TCTTCATCCTCATTCTCCACA	0.547000													43	12					0	0	1	0	0
EDEM3	80267	broad.mit.edu	37	1	184695503	184695503	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr1:184695503G>C	ENST00000318130.8	-	7	899	c.633C>G	c.(631-633)atC>atG	p.I211M	EDEM3_ENST00000367512.3_Missense_Mutation_p.I168M	NM_025191.3	NP_079467.3	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like 3	211					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CTGGTTTTCTGATGCCAAACT	0.373000													25	83					0	0	1	0	0
CSTF2T	23283	broad.mit.edu	37	10	53458569	53458569	+	Silent	SNP	C	C	A			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr10:53458569C>A	ENST00000331173.4	-	1	786	c.741G>T	c.(739-741)gtG>gtT	p.V247V	PRKG1_ENST00000401604.2_Intron|PRKG1_ENST00000373985.1_Intron|PRKG1_ENST00000373980.4_Intron	NM_015235.2	NP_056050.1	Q9H0L4	CSTFT_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant	247					mRNA processing	nucleus	nucleotide binding|RNA binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30				COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)		GAATGTCCTTCACAGGTCTTC	0.577000													15	29					3.32936e-07	3.41473e-07	1	1	0
TMCO4	255104	broad.mit.edu	37	1	20066325	20066325	+	Missense_Mutation	SNP	G	G	A	rs150663799	by1000genomes	TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr1:20066325G>A	ENST00000294543.6	-	12	1412	c.1171C>T	c.(1171-1173)Cgg>Tgg	p.R391W	TMCO4_ENST00000375127.1_Missense_Mutation_p.R391W|TMCO4_ENST00000375122.2_Missense_Mutation_p.R351W	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	391						integral to membrane				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		ACCTGCTGCCGGGAGAGCAGG	0.582000													18	33					0	0	1	0	0
NFATC2	4773	broad.mit.edu	37	20	50158937	50158937	+	Silent	SNP	G	G	A			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr20:50158937G>A	ENST00000371564.3	-	1	321	c.102C>T	c.(100-102)ttC>ttT	p.F34F	NFATC2_ENST00000396009.3_Silent_p.F34F|NFATC2_ENST00000609507.1_Intron|NFATC2_ENST00000414705.1_Intron|NFATC2_ENST00000609943.1_Intron|NFATC2_ENST00000610033.1_5'UTR	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	34					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					ACTCATAGTCGAAGAGGATGG	0.682000													15	22					0	0	1	0	0
AFF3	3899	broad.mit.edu	37	2	100289020	100289020	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr2:100289020C>G	ENST00000409236.2	-	10	1235	c.1123G>C	c.(1123-1125)Gat>Cat	p.D375H	AFF3_ENST00000356421.2_Missense_Mutation_p.D400H|AFF3_ENST00000317233.4_Missense_Mutation_p.D375H|AFF3_ENST00000409579.1_Missense_Mutation_p.D400H			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3						multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TCCTCTTCATCACTGCTTAGC	0.423000													4	181					0	0	1	0	0
DMBX1	127343	broad.mit.edu	37	1	46976636	46976636	+	Silent	SNP	C	C	T			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr1:46976636C>T	ENST00000371956.4	+	3	393	c.378C>T	c.(376-378)ttC>ttT	p.F126F	DMBX1_ENST00000360032.3_Silent_p.F121F	NM_147192.2	NP_671725.1	Q8NFW5	DMBX1_HUMAN	diencephalon/mesencephalon homeobox 1	126	Interacts with OXT2 and is required for repressor activity (By similarity).				brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					GGGCCAAGTTCCGGAAGAAGC	0.617000													8	15					0	0	1	0	0
GUCY2C	2984	broad.mit.edu	37	12	14767865	14767865	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr12:14767865C>T	ENST00000261170.3	-	26	3119	c.2983G>A	c.(2983-2985)Gag>Aag	p.E995K	RP11-695J4.2_ENST00000542401.1_RNA|RP11-695J4.2_ENST00000545424.1_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	995					intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						TAGGTAGTCTCATTTCCTCTT	0.483000													17	28					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179419718	179419718	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr2:179419718C>G	ENST00000589042.1	-	331	88692	c.88468G>C	c.(88468-88470)Gaa>Caa	p.E29490Q	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E20550Q|TTN_ENST00000460472.2_Missense_Mutation_p.E20425Q|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E26922Q|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E20617Q|TTN_ENST00000591111.1_Missense_Mutation_p.E27849Q	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	27849	Fibronectin type-III 115.						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)			GTGGTATTTTCAACACACACC	0.433000													10	15					0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23870118	23870118	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr14:23870118G>A	ENST00000405093.3	-	13	1280	c.1210C>T	c.(1210-1212)Cgg>Tgg	p.R404W	MYH6_ENST00000356287.3_Missense_Mutation_p.R404W	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	404	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		ACTTTCACCCGAGGGTGGCAC	0.562000													17	25					0	0	1	0	0
SLC12A2	6558	broad.mit.edu	37	5	127485726	127485726	+	Silent	SNP	C	C	T			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr5:127485726C>T	ENST00000262461.2	+	13	2232	c.2043C>T	c.(2041-2043)ttC>ttT	p.F681F	SLC12A2_ENST00000343225.4_Silent_p.F681F	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	681					potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	TCTCAAACTTCTTCCTTGCAT	0.299000													33	22					0	0	1	0	0
KIFC1	3833	broad.mit.edu	37	6	33374620	33374620	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr6:33374620G>A	ENST00000428849.2	+	10	2395	c.1945G>A	c.(1945-1947)Gag>Aag	p.E649K		NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	649					blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						GAACGTCTCCGAGTCCCTCAA	0.542000													23	24					0	0	1	0	0
PCDHGA5	56110	broad.mit.edu	37	5	140745915	140745915	+	Missense_Mutation	SNP	C	C	A			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr5:140745915C>A	ENST00000518069.1	+	1	2018	c.2018C>A	c.(2017-2019)gCt>gAt	p.A673D	PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACATCCTGGCTGACCTAGGC	0.617000													138	49					2.40266e-69	2.63821e-69	1	1	0
PCNX	22990	broad.mit.edu	37	14	71443718	71443718	+	Nonsense_Mutation	SNP	C	C	T			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr14:71443718C>T	ENST00000304743.2	+	6	1110	c.664C>T	c.(664-666)Cag>Tag	p.Q222*	PCNX_ENST00000439984.3_Nonsense_Mutation_p.Q222*|PCNX_ENST00000238570.5_Nonsense_Mutation_p.Q222*	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	222						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		CATCTCTATTCAGCCTTCCTT	0.418000													45	52					0	0	1	0	0
TENM3	55714	broad.mit.edu	37	4	183676247	183676247	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr4:183676247G>C	ENST00000511685.1	+	22	4850	c.4727G>C	c.(4726-4728)cGa>cCa	p.R1576P	TENM3_ENST00000406950.2_Missense_Mutation_p.R1576P|TENM3_ENST00000502950.1_3'UTR					teneurin transmembrane protein 3																		ATGCCAGTTCGAGTGGTGTCT	0.408000													19	30					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179412924	179412924	+	Silent	SNP	G	G	A			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr2:179412924G>A	ENST00000589042.1	-	339	93653	c.93429C>T	c.(93427-93429)agC>agT	p.S31143S	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.S22203S|TTN_ENST00000460472.2_Silent_p.S22078S|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Silent_p.S28575S|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.S22270S|TTN_ENST00000591111.1_Silent_p.S29502S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	29502	Ig-like 139.						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)			CAGTGATCCGGCTGCCTCCAT	0.498000													4	166					0	0	1	0	0
ZNF37BP	100129482	broad.mit.edu	37	10	43015205	43015205	+	RNA	SNP	G	G	A			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr10:43015205G>A	ENST00000452075.3	-	0	2389					NR_026777.1																						TGTGTTCTGTGATGTACAGTT	0.368000													5	13					0	0	1	0	0
TRPC5	7224	broad.mit.edu	37	X	111095602	111095602	+	Missense_Mutation	SNP	C	C	A			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chrX:111095602C>A	ENST00000262839.2	-	5	2219	c.1301G>T	c.(1300-1302)tGg>tTg	p.W434L		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	434					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CAGGTTCCACCAGTCATGGAT	0.408000													51	11					9.52127e-25	1.02933e-24	1	1	0
VCAN	1462	broad.mit.edu	37	5	82837304	82837304	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr5:82837304C>T	ENST00000265077.3	+	8	9047	c.8482C>T	c.(8482-8484)Ccc>Tcc	p.P2828S	VCAN_ENST00000502527.2_Intron|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000343200.5_Missense_Mutation_p.P1841S|VCAN_ENST00000342785.4_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000513016.1_3'UTR	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2828	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		ACCATCATCTCCCCTCACTAT	0.502000													6	56					0	0	1	0	0
CACHD1	57685	broad.mit.edu	37	1	65047849	65047849	+	Missense_Mutation	SNP	A	A	G			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr1:65047849A>G	ENST00000371073.2	+	3	272	c.272A>G	c.(271-273)aAa>aGa	p.K91R	CACHD1_ENST00000290039.5_Missense_Mutation_p.K40R|CACHD1_ENST00000495994.1_3'UTR			Q5VU97	CAHD1_HUMAN	cache domain containing 1	91					calcium ion transport	integral to membrane				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						CTAGCCAAAAAAATCCGAGAG	0.398000													37	49					0	0	1	0	0
MACC1	346389	broad.mit.edu	37	7	20201443	20201443	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr7:20201443C>T	ENST00000400331.5	-	4	351	c.43G>A	c.(43-45)Gca>Aca	p.A15T	MACC1_ENST00000332878.4_Missense_Mutation_p.A15T|MACC1_ENST00000589011.1_Missense_Mutation_p.A15T	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	15					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						ATACTTTGTGCAATTCTTCCT	0.323000													37	61					0	0	1	0	0
HNF1A	6927	broad.mit.edu	37	12	121434479	121434479	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr12:121434479G>A	ENST00000257555.6	+	6	1469	c.1243G>A	c.(1243-1245)Ggg>Agg	p.G415R	HNF1A_ENST00000541395.1_Missense_Mutation_p.G415R|HNF1A_ENST00000543427.1_Missense_Mutation_p.G298R|HNF1A_ENST00000402929.1_Missense_Mutation_p.G415R|HNF1A_ENST00000538626.1_Intron|HNF1A_ENST00000400024.2_Missense_Mutation_p.G415R|HNF1A_ENST00000544413.1_Missense_Mutation_p.G415R			P20823	HNF1A_HUMAN	HNF1 homeobox A	415			G -> R (in IDDM20; loss of function).		glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CATGACCATCGGGCCTGGTGA	0.632000									Hepatic Adenoma, Familial Clustering of				18	19					0	0	1	0	0
GLOD4	51031	broad.mit.edu	37	17	685426	685426	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr17:685426G>A	ENST00000301329.6	-	1	155	c.70C>T	c.(70-72)Cgg>Tgg	p.R24W	GLOD4_ENST00000536578.1_5'UTR|GLOD4_ENST00000301328.5_Missense_Mutation_p.R24W	NM_016080.3	NP_057164.3	Q9HC38	GLOD4_HUMAN	glyoxalase domain containing 4	24						mitochondrion				endometrium(1)|large_intestine(1)|prostate(1)	3				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		AGGACGTCCCGATAGAAACGC	0.682000													13	24					0	0	1	0	0
MIR520B	574473	broad.mit.edu	37	19	54204530	54204530	+	RNA	SNP	C	C	T			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr19:54204530C>T	ENST00000384989.1	+	0	50					NR_030195.1																						GAAAGTGCTTCCTTTTAGAGG	0.428000													24	50					0	0	1	0	0
RAB11FIP1	80223	broad.mit.edu	37	8	37732808	37732808	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr8:37732808G>C	ENST00000330843.4	-	3	859	c.847C>G	c.(847-849)Ctt>Gtt	p.L283V	RAB11FIP1_ENST00000524118.1_Missense_Mutation_p.L135V|RAB11FIP1_ENST00000287263.4_Missense_Mutation_p.L283V|RAB11FIP1_ENST00000522727.1_Missense_Mutation_p.L135V	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	283					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			AGTTGCTTAAGATCCGTACTC	0.458000													5	246					0	0	1	0	0
GGPS1	9453	broad.mit.edu	37	1	235505340	235505340	+	Silent	SNP	G	G	C			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr1:235505340G>C	ENST00000282841.5	+	4	388	c.156G>C	c.(154-156)gtG>gtC	p.V52V	GGPS1_ENST00000358966.2_Silent_p.V52V|GGPS1_ENST00000476121.1_Silent_p.V52V|GGPS1_ENST00000391855.2_5'UTR|GGPS1_ENST00000488594.1_Silent_p.V52V			O95749	GGPPS_HUMAN	geranylgeranyl diphosphate synthase 1	52					cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|soluble fraction	dimethylallyltranstransferase activity|farnesyltranstransferase activity|geranyltranstransferase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	8	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	OV - Ovarian serous cystadenocarcinoma(106;1.39e-05)			TTATTGAAGTGACAGAAATGT	0.338000													13	30					0	0	1	0	0
CIT	11113	broad.mit.edu	37	12	120222805	120222805	+	Missense_Mutation	SNP	T	T	C			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr12:120222805T>C	ENST00000392521.2	-	11	1415	c.1360A>G	c.(1360-1362)Aaa>Gaa	p.K454E	CIT_ENST00000261833.7_Missense_Mutation_p.K454E	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	454					intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		TCTTTGCTTTTGATGAGAAGT	0.512000													19	32					0	0	1	0	0
SEL1L2	80343	broad.mit.edu	37	20	13850831	13850831	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr20:13850831G>A	ENST00000284951.5	-	13	1197	c.1123C>T	c.(1123-1125)Cat>Tat	p.H375Y	SEL1L2_ENST00000378072.5_Missense_Mutation_p.H375Y|SEL1L2_ENST00000486903.1_5'UTR			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	375						integral to membrane	binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						CCAAGCCCATGAAGGCCGATT	0.318000													31	50					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27099397	27099397	+	Nonsense_Mutation	SNP	C	C	T			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr1:27099397C>T	ENST00000324856.7	+	14	4005	c.3634C>T	c.(3634-3636)Cag>Tag	p.Q1212*	ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q829*|ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q1212*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1212					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.Q1212fs*4(1)|p.Q1212*(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCCTGGGTATCAGCCCAGTAT	0.483000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								36	30					0	0	1	0	0
C2orf61	285051	broad.mit.edu	37	2	47382372	47382372	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr2:47382372C>G	ENST00000294947.2	-	1	54	c.19G>C	c.(19-21)Gcc>Ccc	p.A7P	RP11-761B3.1_ENST00000422269.1_Intron|C2orf61_ENST00000445927.2_Missense_Mutation_p.A7P	NM_173649.2	NP_775920.1	Q8N801	CB061_HUMAN	chromosome 2 open reading frame 61	7								p.0?(2)		endometrium(1)|kidney(1)|lung(2)	4		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			GAAGCGGTGGCGACGGCTGGC	0.647000													18	30					0	0	1	0	0
RPAP1	26015	broad.mit.edu	37	15	41820133	41820133	+	Silent	SNP	C	C	T			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr15:41820133C>T	ENST00000304330.4	-	11	1469	c.1353G>A	c.(1351-1353)ttG>ttA	p.L451L	RPAP1_ENST00000561603.1_Silent_p.L451L	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	451						nucleus	DNA binding|DNA-directed RNA polymerase activity			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		CTCTGTCATCCAAGGAGAAGC	0.587000													21	15					0	0	1	0	0
CCDC129	223075	broad.mit.edu	37	7	31682479	31682479	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr7:31682479G>A	ENST00000319386.3	+	11	2044	c.1051G>A	c.(1051-1053)Gta>Ata	p.V351I	CCDC129_ENST00000407970.3_Missense_Mutation_p.V499I|CCDC129_ENST00000409210.1_Missense_Mutation_p.V407I|CCDC129_ENST00000451887.2_Missense_Mutation_p.V525I			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	499										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						AAGGGCCTCAGTATCTGTGAT	0.542000													32	38					0	0	1	0	0
CEACAM1	634	broad.mit.edu	37	19	43016632	43016632	+	Splice_Site	SNP	C	C	G			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr19:43016632C>G	ENST00000161559.6	-	6	1381		c.e6-1		LIPE-AS1_ENST00000594688.1_RNA|CEACAM1_ENST00000352591.5_Splice_Site|CEACAM1_ENST00000599389.1_Splice_Site|CEACAM1_ENST00000351134.3_Splice_Site|CEACAM1_ENST00000403461.1_Splice_Site|LIPE-AS1_ENST00000457234.2_RNA|CEACAM1_ENST00000308072.4_Splice_Site|CEACAM1_ENST00000403444.3_Splice_Site|CEACAM1_ENST00000358394.3_Splice_Site|LIPE-AS1_ENST00000594624.2_RNA	NM_001712.4	NP_001703.2	P13688	CEAM1_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)						angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway	extracellular region|integral to plasma membrane|membrane fraction				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	17		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)	AGAGCATTATCTGTCATGGAG	0.448000													22	28					0	0	1	0	0
CDK6	1021	broad.mit.edu	37	7	92300796	92300796	+	Silent	SNP	G	G	A			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr7:92300796G>A	ENST00000265734.4	-	5	1002	c.591C>T	c.(589-591)gcC>gcT	p.A197A	CDK6_ENST00000424848.2_Silent_p.A197A	NM_001259.6	NP_001250.1	Q00534	CDK6_HUMAN	cyclin-dependent kinase 6	197	Protein kinase.				cell dedifferentiation|cell division|G1 phase of mitotic cell cycle|gliogenesis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|negative regulation of osteoblast differentiation|positive regulation of cell-matrix adhesion|positive regulation of fibroblast proliferation|regulation of erythrocyte differentiation|regulation of gene expression|response to virus	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleus|ruffle	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	11	all_cancers(62;8.72e-12)|all_epithelial(64;3.65e-10)|Breast(17;0.000675)|all_lung(186;0.0392)|Lung NSC(181;0.053)|all_neural(327;0.219)|all_hematologic(106;0.237)		STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;1.2e-06)|all cancers(6;3.1e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			CCACGGGGGTGGCGTAGCTGG	0.488000			T	MLLT10	ALL								11	31					0	0	1	0	0
EVI5L	115704	broad.mit.edu	37	19	7927313	7927313	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr19:7927313G>C	ENST00000270530.4	+	16	2003	c.1807G>C	c.(1807-1809)Gag>Cag	p.E603Q	EVI5L_ENST00000538904.2_Missense_Mutation_p.E614Q	NM_145245.3	NP_660288.1	Q96CN4	EVI5L_HUMAN	ecotropic viral integration site 5-like	603						intracellular	protein binding|Rab GTPase activator activity	p.E603Q(1)		breast(1)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	12						CGTGGAGGCGGAGCGCGCGGC	0.677000													7	23					0	0	1	0	0
ASCC2	84164	broad.mit.edu	37	22	30198080	30198080	+	Silent	SNP	G	G	A			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr22:30198080G>A	ENST00000397771.2	-	15	1648	c.1471C>T	c.(1471-1473)Ctg>Ttg	p.L491L	ASCC2_ENST00000542393.1_Silent_p.L415L|ASCC2_ENST00000307790.3_Silent_p.L491L			Q9H1I8	ASCC2_HUMAN	activating signal cointegrator 1 complex subunit 2	491	CUE.				regulation of transcription, DNA-dependent|transcription, DNA-dependent					endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)			TAGTACTCCAGGCAGGCCAGG	0.612000													18	27					0	0	1	0	0
PRPF6	24148	broad.mit.edu	37	20	62642738	62642738	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr20:62642738C>G	ENST00000535781.1	+	11	1517	c.1406C>G	c.(1405-1407)aCg>aGg	p.T469R	ZNF512B_ENST00000450537.1_Intron|ZNF512B_ENST00000217130.3_Intron			O94906	PRP6_HUMAN	pre-mRNA processing factor 6	469					assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)					ATCTGGATCACGGCTGCTAAG	0.562000													31	29					0	0	1	0	0
PSD3	23362	broad.mit.edu	37	8	18623024	18623024	+	Nonsense_Mutation	SNP	G	G	A			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr8:18623024G>A	ENST00000440756.2	-	9	2215	c.2113C>T	c.(2113-2115)Cag>Tag	p.Q705*	PSD3_ENST00000286485.8_Nonsense_Mutation_p.Q169*|PSD3_ENST00000327040.8_Nonsense_Mutation_p.Q703*|PSD3_ENST00000523619.1_Nonsense_Mutation_p.Q638*			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	704	SEC7.				regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		ATGAACTCCTGACAGGTCATC	0.378000													42	64					0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6202308	6202308	+	Silent	SNP	C	C	T			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr1:6202308C>T	ENST00000262450.3	-	15	2415	c.2316G>A	c.(2314-2316)gcG>gcA	p.A772A	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	772	Helicase ATP-binding.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		AGAAGTCGGGCGCCCACATCT	0.602000													59	18					0	0	1	0	0
BRINP3	339479	broad.mit.edu	37	1	190068220	190068220	+	Missense_Mutation	SNP	C	C	A			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr1:190068220C>A	ENST00000367462.3	-	8	1460	c.1229G>T	c.(1228-1230)tGc>tTc	p.C410F	BRINP3_ENST00000534846.1_Missense_Mutation_p.C308F	NM_199051.1	NP_950252.1			bone morphogenetic protein/retinoic acid inducible neural-specific 3	410																	GTTCTCATTGCAGTAGAGAAA	0.483000													24	19					7.92952e-12	8.34687e-12	1	1	0
TMBIM6	7009	broad.mit.edu	37	12	50135934	50135934	+	Silent	SNP	T	T	A			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr12:50135934T>A	ENST00000423828.1	+	1	343	c.15T>A	c.(13-15)tcT>tcA	p.S5S	TMBIM6_ENST00000552699.1_Silent_p.S5S|TMBIM6_ENST00000267115.5_Intron|TMBIM6_ENST00000549385.1_Intron	NM_001098576.1	NP_001092046.1	P55061	BI1_HUMAN	transmembrane BAX inhibitor motif containing 6	0					apoptosis|negative regulation of apoptosis	endoplasmic reticulum|insoluble fraction|integral to plasma membrane|nucleus				lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	6						CACACTCCTCTGTGACACGCG	0.697000													4	12					0	0	1	0	0
SLC1A4	6509	broad.mit.edu	37	2	65243631	65243631	+	Silent	SNP	C	C	T			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr2:65243631C>T	ENST00000234256.3	+	5	1101	c.858C>T	c.(856-858)gaC>gaT	p.D286D	SLC1A4_ENST00000493121.1_3'UTR|SLC1A4_ENST00000531327.1_Intron	NM_003038.4	NP_003029.2	P43007	SATT_HUMAN	solute carrier family 1 (glutamate/neutral amino acid transporter), member 4	286					cellular nitrogen compound metabolic process|cognition|synaptic transmission, glutamatergic	intermediate filament|melanosome	chloride channel activity|L-alanine transmembrane transporter activity|L-cystine transmembrane transporter activity|L-hydroxyproline transmembrane transporter activity|L-proline transmembrane transporter activity|L-serine transmembrane transporter activity|L-threonine transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|urinary_tract(1)	13					L-Alanine(DB00160)	AAATGAAAGACATCATCGTGC	0.453000													42	60					0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175092638	175092638	+	Missense_Mutation	SNP	G	G	A	rs61746976	byFrequency	TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr1:175092638G>A	ENST00000239462.4	+	12	2866	c.2753G>A	c.(2752-2754)cGc>cAc	p.R918H		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	918	Fibronectin type-III 8.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		TACATGGTGCGCTACACCTCT	0.587000													24	49					0	0	1	0	0
LDB2	9079	broad.mit.edu	37	4	16590367	16590367	+	Missense_Mutation	SNP	C	C	T	rs142034467		TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr4:16590367C>T	ENST00000502640.1	-	4	645	c.497G>A	c.(496-498)cGa>cAa	p.R166Q	LDB2_ENST00000515064.1_Missense_Mutation_p.R166Q|LDB2_ENST00000441778.2_Missense_Mutation_p.R166Q|LDB2_ENST00000503178.2_Missense_Mutation_p.R42Q|LDB2_ENST00000304523.5_Missense_Mutation_p.R166Q|LDB2_ENST00000503829.1_5'UTR			O43679	LDB2_HUMAN	LIM domain binding 2	166							LIM domain binding|transcription cofactor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						GACTAACTCTCGGTATTGTCT	0.393000													26	51					0	0	1	0	0
SUCO	51430	broad.mit.edu	37	1	172526505	172526505	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr1:172526505C>G	ENST00000367723.4	+	5	1127	c.1003C>G	c.(1003-1005)Ctt>Gtt	p.L335V	SUCO_ENST00000610051.1_Missense_Mutation_p.L140V|SUCO_ENST00000608151.1_Missense_Mutation_p.L336V|SUCO_ENST00000263688.3_Missense_Mutation_p.L177V	NM_016227.2	NP_057311.3			SUN domain containing ossification factor																		TGGTGAGGCCCTTGATGCTAG	0.413000													115	93					0	0	1	0	0
PCDHB5	26167	broad.mit.edu	37	5	140517125	140517125	+	Silent	SNP	G	G	A			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr5:140517125G>A	ENST00000231134.5	+	1	2326	c.2109G>A	c.(2107-2109)tcG>tcA	p.S703S		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		703					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCTCTTTTCGGTGCTCCTGT	0.701000													70	39					0	0	1	0	0
GUCY2C	2984	broad.mit.edu	37	12	14792872	14792872	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr12:14792872C>G	ENST00000261170.3	-	19	2217	c.2081G>C	c.(2080-2082)aGa>aCa	p.R694T		NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	694	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						ATTTTCCACTCTGAAAATCTT	0.363000													41	53					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38935264	38935264	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr19:38935264C>T	ENST00000355481.4	+	7	709	c.578C>T	c.(577-579)tCc>tTc	p.S193F	RYR1_ENST00000360985.3_Missense_Mutation_p.S193F|RYR1_ENST00000359596.3_Missense_Mutation_p.S193F	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	193	MIR 2.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GTTGACGCTTCCTTCATGCAG	0.622000													6	14					0	0	1	0	0
SLC5A10	125206	broad.mit.edu	37	17	18918368	18918368	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr17:18918368G>A	ENST00000317977.6	+	10	1467	c.896G>A	c.(895-897)cGg>cAg	p.R299Q	SLC5A10_ENST00000395642.1_Missense_Mutation_p.R299Q|SLC5A10_ENST00000395645.3_Missense_Mutation_p.R366Q|SLC5A10_ENST00000395647.2_Missense_Mutation_p.R382Q|SLC5A10_ENST00000395643.2_Missense_Mutation_p.R339Q|SLC5A10_ENST00000417251.2_Missense_Mutation_p.R330Q	NM_001282417.1	NP_001269346.1	A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10	366					sodium ion transport|transmembrane transport	integral to membrane	transporter activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						CCAGGTCTGCGGGGGCTGATG	0.662000													17	23					0	0	1	0	0
CCDC158	339965	broad.mit.edu	37	4	77290740	77290740	+	Nonsense_Mutation	SNP	C	C	A			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr4:77290740C>A	ENST00000388914.3	-	10	1338	c.1186G>T	c.(1186-1188)Gag>Tag	p.E396*		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	396										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						TGCTCCTTCTCCAGACTCAGC	0.463000													28	47					2.48696e-23	2.67826e-23	1	1	0
SSH3	54961	broad.mit.edu	37	11	67076937	67076937	+	Missense_Mutation	SNP	T	T	G			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr11:67076937T>G	ENST00000308127.4	+	11	1309	c.1131T>G	c.(1129-1131)aaT>aaG	p.N377K	SSH3_ENST00000308298.7_Intron|SSH3_ENST00000532181.1_3'UTR|SSH3_ENST00000376757.5_Missense_Mutation_p.N377K	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	slingshot protein phosphatase 3	377	Tyrosine-protein phosphatase.				regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			CCTACCACAATGTGCGCCTCT	0.612000													15	47					0	0	1	0	0
GCKR	2646	broad.mit.edu	37	2	27731064	27731064	+	Silent	SNP	C	C	T			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr2:27731064C>T	ENST00000264717.2	+	16	1431	c.1368C>T	c.(1366-1368)atC>atT	p.I456I	GCKR_ENST00000424318.2_Silent_p.I266I	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator	456	SIS 2.				carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					TTCCCTCCATCATCAGCATCA	0.532000													84	129					0	0	1	0	0
PLD2	5338	broad.mit.edu	37	17	4725980	4725980	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr17:4725980C>G	ENST00000263088.6	+	25	2754	c.2623C>G	c.(2623-2625)Ctc>Gtc	p.L875V	PLD2_ENST00000572940.1_Missense_Mutation_p.L864V	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	875					cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	CCTGCGGACTCTCCGGGAGTA	0.657000													42	55					0	0	1	0	0
EPG5	57724	broad.mit.edu	37	18	43459023	43459023	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr18:43459023C>T	ENST00000282041.5	-	33	5858	c.5824G>A	c.(5824-5826)Gaa>Aaa	p.E1942K	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1942					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						CAGGTCATTTCTAAGTCAATC	0.418000													36	62					0	0	1	0	0
C17orf62	79415	broad.mit.edu	37	17	80401823	80401823	+	Missense_Mutation	SNP	C	C	A			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr17:80401823C>A	ENST00000336995.7	-	6	623	c.176G>T	c.(175-177)gGt>gTt	p.G59V	C17orf62_ENST00000434650.2_3'UTR|C17orf62_ENST00000583617.1_Intron|C17orf62_ENST00000342572.8_3'UTR|C17orf62_ENST00000577732.1_3'UTR|C17orf62_ENST00000578919.1_3'UTR|C17orf62_ENST00000437807.2_3'UTR|C17orf62_ENST00000306645.5_3'UTR|C17orf62_ENST00000577436.1_3'UTR|C17orf62_ENST00000585064.1_3'UTR			Q9BQA9	CQ062_HUMAN	chromosome 17 open reading frame 62	0						integral to membrane	protein binding			breast(2)|large_intestine(2)|skin(2)|urinary_tract(2)	8	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			CTCAGGCACACCGGGAATGTG	0.687000													50	94					8.44121e-28	9.19665e-28	1	1	0
ASIC3	9311	broad.mit.edu	37	7	150749532	150749532	+	Silent	SNP	C	C	T			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr7:150749532C>T	ENST00000349064.5	+	10	1686	c.1488C>T	c.(1486-1488)acC>acT	p.T496T	ASIC3_ENST00000357922.4_Intron|ASIC3_ENST00000297512.8_Silent_p.T496T	NM_004769.3|NM_020321.3	NP_004760.1|NP_064717.1	Q9UHC3	ACCN3_HUMAN	acid-sensing (proton-gated) ion channel 3	496					sensory perception|signal transduction	cytoplasm|integral to plasma membrane	ligand-gated sodium channel activity										GCCATCGAACCCAAGTTCCCC	0.627000													19	28					0	0	1	0	0
IGHMBP2	3508	broad.mit.edu	37	11	68675615	68675615	+	Missense_Mutation	SNP	G	G	T			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr11:68675615G>T	ENST00000255078.3	+	3	370	c.259G>T	c.(259-261)Gat>Tat	p.D87Y	IGHMBP2_ENST00000539224.1_Missense_Mutation_p.D87Y	NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	87					cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			TTTTGCAGGTGATATCGTGGG	0.453000													56	239					3.86002e-21	4.14101e-21	1	1	0
IL18BP	10068	broad.mit.edu	37	11	71711585	71711585	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr11:71711585G>C	ENST00000497194.2	+	2	1589	c.217G>C	c.(217-219)Gag>Cag	p.E73Q	IL18BP_ENST00000260049.5_Missense_Mutation_p.E73Q|IL18BP_ENST00000393703.4_Missense_Mutation_p.E73Q|IL18BP_ENST00000531053.1_Missense_Mutation_p.E73Q|IL18BP_ENST00000404792.1_Missense_Mutation_p.E73Q|IL18BP_ENST00000393707.4_Missense_Mutation_p.E73Q|IL18BP_ENST00000393705.4_Missense_Mutation_p.E73Q|IL18BP_ENST00000337131.5_Missense_Mutation_p.E73Q			O95998	I18BP_HUMAN	interleukin 18 binding protein	73	Ig-like C2-type.				T-helper 1 type immune response	extracellular region	interleukin-18 binding|receptor antagonist activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)	7						GACCTGGCCAGAGGTGGAAGT	0.607000													29	17					0	0	1	0	0
JAZF1	221895	broad.mit.edu	37	7	27872527	27872527	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr7:27872527G>C	ENST00000283928.5	-	5	789	c.624C>G	c.(622-624)ttC>ttG	p.F208L	JAZF1_ENST00000466516.1_5'UTR	NM_175061.3	NP_778231.2	Q86VZ6	JAZF1_HUMAN	JAZF zinc finger 1	208					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcriptional repressor complex	nucleic acid binding|transcription corepressor activity|zinc ion binding		JAZF1/SUZ12(133)	endometrium(1)|large_intestine(1)|lung(4)	6						AGCGACACTTGAATGGTTTGC	0.463000			T	SUZ12	endometrial stromal tumours								33	54					0	0	1	0	0
MYOF	26509	broad.mit.edu	37	10	95163795	95163795	+	Silent	SNP	C	C	G			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr10:95163795C>G	ENST00000371501.4	-	9	950	c.828G>C	c.(826-828)ctG>ctC	p.L276L	MYOF_ENST00000371489.1_Silent_p.L276L|MYOF_ENST00000371502.4_Silent_p.L276L|MYOF_ENST00000358334.5_Silent_p.L276L|MYOF_ENST00000359263.4_Silent_p.L276L			Q9NZM1	MYOF_HUMAN	myoferlin	276	C2 2.|Necessary for interaction with EHD2.				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						ATTCCCCCATCAGACAATCTG	0.413000													22	65					0	0	1	0	0
MCCC1	56922	broad.mit.edu	37	3	182789116	182789116	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr3:182789116C>G	ENST00000492597.1	-	5	896	c.194G>C	c.(193-195)gGa>gCa	p.G65A	MCCC1_ENST00000539926.1_Missense_Mutation_p.G39A|MCCC1_ENST00000265594.4_Missense_Mutation_p.G174A			Q96RQ3	MCCA_HUMAN	methylcrotonoyl-CoA carboxylase 1 (alpha)	174	Biotin carboxylation.				biotin metabolic process|leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	AACAGGTACTCCAGCAGCAGC	0.428000													24	43					0	0	1	0	0
TIMM10B	26515	broad.mit.edu	37	11	6503023	6503023	+	Nonsense_Mutation	SNP	G	G	T			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr11:6503023G>T	ENST00000254616.6	+	2	146	c.76G>T	c.(76-78)Gaa>Taa	p.E26*	TIMM10B_ENST00000530751.1_Intron|TIMM10B_ENST00000472836.1_Nonsense_Mutation_p.E26*	NM_012192.3	NP_036324.1			translocase of inner mitochondrial membrane 10 homolog B (yeast)																		TCGGATGACAGAACTCTGCTT	0.562000													17	11					3.32936e-07	3.41473e-07	1	1	0
SLC17A4	10050	broad.mit.edu	37	6	25777134	25777134	+	Silent	SNP	C	C	T			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr6:25777134C>T	ENST00000377905.4	+	10	1334	c.1215C>T	c.(1213-1215)atC>atT	p.I405I	SLC17A4_ENST00000439485.2_Silent_p.I175I|SLC17A4_ENST00000397076.2_Silent_p.I203I	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4	405					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CTTCTGCCATCAGCAGCTTCT	0.527000													30	48					0	0	1	0	0
ACSBG1	23205	broad.mit.edu	37	15	78526758	78526758	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr15:78526758C>T	ENST00000258873.4	-	1	291	c.86G>A	c.(85-87)cGg>cAg	p.R29Q	ACSBG1_ENST00000560817.1_Intron|ACSBG1_ENST00000541759.1_5'UTR|ACSBG1_ENST00000558828.1_Intron	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	29					long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						CATGTCCTGCCGGCTCTCCTG	0.567000													117	196					0	0	1	0	0
LGR6	59352	broad.mit.edu	37	1	202270046	202270046	+	Silent	SNP	G	G	A			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr1:202270046G>A	ENST00000367278.3	+	8	944	c.855G>A	c.(853-855)acG>acA	p.T285T	LGR6_ENST00000439764.2_Silent_p.T146T|LGR6_ENST00000255432.7_Silent_p.T233T|LGR6_ENST00000308543.3_3'UTR	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	285						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						TGCTACAGACGATGTGAGTAC	0.522000													11	88					0	0	1	0	0
FNBP4	23360	broad.mit.edu	37	11	47772834	47772834	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr11:47772834C>T	ENST00000263773.5	-	5	658	c.646G>A	c.(646-648)Gag>Aag	p.E216K	FNBP4_ENST00000534003.1_5'UTR	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	216	WW 1.									NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						TCGCCCATCTCAATTCCGACT	0.378000													50	18					0	0	1	0	0
TRAV25	28658	broad.mit.edu	37	14	22580710	22580710	+	RNA	SNP	A	A	G			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr14:22580710A>G	ENST00000390454.2	+	0	129																											ACAGAGGTGAATGGACAACAG	0.403000													18	19					0	0	1	0	0
CBX1	10951	broad.mit.edu	37	17	46153372	46153372	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr17:46153372C>G	ENST00000393408.3	-	3	789	c.309G>C	c.(307-309)aaG>aaC	p.K103N	CBX1_ENST00000495350.1_Missense_Mutation_p.K103N|CBX1_ENST00000225603.4_Missense_Mutation_p.K103N	NM_006807.4	NP_006798.1	P83916	CBX1_HUMAN	chromobox homolog 1	103						nuclear heterochromatin|nucleoplasm|spindle	chromatin binding|enzyme binding			breast(1)|central_nervous_system(1)|kidney(1)|prostate(1)	4						cctcttctttcttcttctttg	0.398000													11	10					0	0	1	0	0
ANXA7	310	broad.mit.edu	37	10	75157959	75157959	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr10:75157959C>T	ENST00000372921.5	-	3	295	c.239G>A	c.(238-240)gGa>gAa	p.G80E	ANXA7_ENST00000535178.1_Intron|ANXA7_ENST00000492380.1_5'UTR	NM_001156.3	NP_001147.1	P20073	ANXA7_HUMAN	annexin A7		Repeat-rich region.						calcium ion binding|calcium-dependent phospholipid binding|calcium-dependent protein binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	26	Prostate(51;0.0119)					GGATGGAGCTCCCCCTGGCTG	0.557000													7	10					0	0	1	0	0
ADAM17	6868	broad.mit.edu	37	2	9650194	9650194	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr2:9650194G>C	ENST00000310823.3	-	11	1440	c.1258C>G	c.(1258-1260)Cta>Gta	p.L420V	RP11-400L8.2_ENST00000480764.1_RNA|RP11-400L8.2_ENST00000472619.1_RNA	NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN	ADAM metallopeptidase domain 17	420	Peptidase M12B.				B cell differentiation|cell adhesion mediated by integrin|epidermal growth factor receptor signaling pathway|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|germinal center formation|membrane protein intracellular domain proteolysis|negative regulation of interleukin-8 production|nerve growth factor receptor signaling pathway|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of chemokine production|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of protein phosphorylation|positive regulation of T cell chemotaxis|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of mast cell apoptosis|response to drug|response to high density lipoprotein particle stimulus|response to hypoxia|response to lipopolysaccharide|spleen development|T cell differentiation in thymus|wound healing, spreading of epidermal cells	actin cytoskeleton|apical plasma membrane|cell surface|cytoplasm|integral to plasma membrane|membrane raft	integrin binding|interleukin-6 receptor binding|metalloendopeptidase activity|PDZ domain binding|SH3 domain binding|zinc ion binding			breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		CATTCTGCTAGACCATCCGGA	0.443000													28	69					0	0	1	0	0
GFAP	2670	broad.mit.edu	37	17	42988717	42988717	+	Silent	SNP	G	G	A			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr17:42988717G>A	ENST00000253408.5	-	6	1079	c.1014C>T	c.(1012-1014)ctC>ctT	p.L338L	GFAP_ENST00000435360.2_Silent_p.L338L|GFAP_ENST00000586793.1_Silent_p.L338L|GFAP_ENST00000588735.1_Intron	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein	338	Coil 2B.|Rod.					cytoplasm|intermediate filament	structural constituent of cytoskeleton			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				TCTCGTCCTTGAGGCTCTGCC	0.652000													9	41					0	0	1	0	0
TRPS1	7227	broad.mit.edu	37	8	116430602	116430602	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr8:116430602C>T	ENST00000395715.3	-	6	3356	c.2779G>A	c.(2779-2781)Gga>Aga	p.G927R	TRPS1_ENST00000519076.1_Missense_Mutation_p.G668R|TRPS1_ENST00000520276.1_Missense_Mutation_p.G918R|TRPS1_ENST00000220888.5_Missense_Mutation_p.G914R	NM_001282902.1|NM_001282903.1|NM_014112.2	NP_001269831.1|NP_001269832.1|NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	914					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G927*(1)|p.G914*(1)		autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			CATACATATCCGCCATTTGCA	0.478000									Langer-Giedion syndrome				34	76					0	0	1	0	0
KCNJ4	3761	broad.mit.edu	37	22	38823654	38823654	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr22:38823654C>T	ENST00000303592.3	-	2	742	c.484G>A	c.(484-486)Gtc>Atc	p.V162I		NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	IRK4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4	162					synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					GAGTCGATGACGCAGCCCACG	0.622000													20	18					0	0	1	0	0
INPPL1	3636	broad.mit.edu	37	11	71942080	71942080	+	Silent	SNP	G	G	C			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr11:71942080G>C	ENST00000298229.2	+	12	1548	c.1344G>C	c.(1342-1344)tcG>tcC	p.S448S	INPPL1_ENST00000541756.1_Silent_p.S206S|INPPL1_ENST00000538751.1_Silent_p.S206S	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	448					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						GGTTCACATCGAAGGGTCTGG	0.587000													33	195					0	0	1	0	0
PLXNB2	23654	broad.mit.edu	37	22	50728888	50728888	+	Silent	SNP	G	G	C			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr22:50728888G>C	ENST00000449103.1	-	3	266	c.126C>G	c.(124-126)gcC>gcG	p.A42A	PLXNB2_ENST00000359337.4_Silent_p.A42A			O15031	PLXB2_HUMAN	plexin B2	42	Sema.				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCACGCCTGAGGCCTCATCCA	0.672000													22	18					0	0	1	0	0
MTMR7	9108	broad.mit.edu	37	8	17228671	17228671	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr8:17228671G>A	ENST00000180173.5	-	3	219	c.185C>T	c.(184-186)gCa>gTa	p.A62V	MTMR7_ENST00000521857.1_Missense_Mutation_p.A62V	NM_004686.4	NP_004677.3	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	62							protein tyrosine phosphatase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		AGCGGTTGTTGCCTGTTTCTC	0.423000													44	49					0	0	1	0	0
LRSAM1	90678	broad.mit.edu	37	9	130263353	130263353	+	Silent	SNP	G	G	A			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr9:130263353G>A	ENST00000323301.4	+	24	2581	c.1977G>A	c.(1975-1977)gtG>gtA	p.V659V	LRSAM1_ENST00000373324.4_Silent_p.V632V|LRSAM1_ENST00000483302.1_3'UTR|LRSAM1_ENST00000373322.1_Silent_p.V659V|LRSAM1_ENST00000300417.6_Silent_p.V659V	NM_138361.5	NP_612370.3	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif containing 1	659					negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis	cytoplasm|extracellular region|membrane part	hormone activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)	16						CTGAGTCTGTGAGGCCATCCG	0.662000													20	5					0	0	1	0	0
ALDH18A1	5832	broad.mit.edu	37	10	97373916	97373916	+	Silent	SNP	C	C	T			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr10:97373916C>T	ENST00000371224.2	-	14	1745	c.1608G>A	c.(1606-1608)gtG>gtA	p.V536V	ALDH18A1_ENST00000371221.3_Silent_p.V534V	NM_002860.3	NP_002851.2	P54886	P5CS_HUMAN	aldehyde dehydrogenase 18 family, member A1	536	Gamma-glutamyl phosphate reductase.				proline biosynthetic process	mitochondrial inner membrane	ATP binding|glutamate 5-kinase activity|glutamate-5-semialdehyde dehydrogenase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(9)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Colorectal(252;0.0402)		Epithelial(162;9.1e-07)|all cancers(201;2.55e-05)	L-Glutamic Acid(DB00142)	CTCTGGTATTCACCTTTAGAA	0.398000													54	69					0	0	1	0	0
COMMD4	54939	broad.mit.edu	37	15	75631432	75631432	+	Silent	SNP	G	G	A			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr15:75631432G>A	ENST00000267935.8	+	5	487	c.288G>A	c.(286-288)ctG>ctA	p.L96L	COMMD4_ENST00000567195.1_Silent_p.L96L|COMMD4_ENST00000562789.1_Silent_p.L102L|COMMD4_ENST00000564815.1_Silent_p.L74L|COMMD4_ENST00000338995.6_Silent_p.L96L	NM_017828.3	NP_060298.2	Q9H0A8	COMD4_HUMAN	COMM domain containing 4	96						cytoplasm	protein binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|prostate(1)	10						TGCAGCAGCTGGGGCTGCCCA	0.617000													24	28					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144942235	144942235	+	Silent	SNP	G	G	A			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr8:144942235G>A	ENST00000525985.1	-	2	5258	c.5187C>T	c.(5185-5187)ttC>ttT	p.F1729F				P58107	EPIPL_HUMAN	epiplakin 1	1729						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGTTGGGGTCGAAGAAGCCCT	0.622000													36	46					0	0	1	0	0
RP11-423O2.5	0	broad.mit.edu	37	1	142803493	142803493	+	RNA	SNP	T	T	C	rs80149641	by1000genomes	TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr1:142803493T>C	ENST00000423385.1	-	0	1472																											TGTACATTTATTATTGATTTA	0.323000													4	66					0	0	1	0	0
POM121L12	285877	broad.mit.edu	37	7	53103770	53103770	+	Missense_Mutation	SNP	C	C	A			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr7:53103770C>A	ENST00000408890.4	+	1	422	c.406C>A	c.(406-408)Ccg>Acg	p.P136T		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	136										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GACCTGGAGCCCGGTGACCAT	0.716000													19	21					7.45023e-12	7.87194e-12	1	1	0
KAT6B	23522	broad.mit.edu	37	10	76602804	76602804	+	Silent	SNP	C	C	T			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr10:76602804C>T	ENST00000287239.4	+	3	678	c.189C>T	c.(187-189)gtC>gtT	p.V63V	KAT6B_ENST00000372714.1_Silent_p.V63V|KAT6B_ENST00000372725.1_Silent_p.V63V|KAT6B_ENST00000372711.1_Silent_p.V63V|KAT6B_ENST00000372724.1_Silent_p.V63V	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN	K(lysine) acetyltransferase 6B	63					histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding										TTCTCAAAGTCACCAACAAAG	0.498000													37	72					0	0	1	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64580062	64580062	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr3:64580062G>C	ENST00000498707.1	-	28	4570	c.4228C>G	c.(4228-4230)Cag>Gag	p.Q1410E	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.Q1382E	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1410	TSP type-1 10.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TTGGACCGCTGACAGACCACC	0.488000													69	128					0	0	1	0	0
LARP4B	23185	broad.mit.edu	37	10	875436	875436	+	Silent	SNP	C	C	T			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr10:875436C>T	ENST00000316157.3	-	10	1054	c.1014G>A	c.(1012-1014)gcG>gcA	p.A338A		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	338							nucleotide binding|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						AGAACGACGTCGCGTAGCGCT	0.532000													24	46					0	0	1	0	0
DBX2	440097	broad.mit.edu	37	12	45429832	45429832	+	Silent	SNP	G	G	T	rs138216785	byFrequency	TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr12:45429832G>T	ENST00000332700.6	-	2	640	c.469C>A	c.(469-471)Cgg>Agg	p.R157R		NM_001004329.2	NP_001004329.2	Q6ZNG2	DBX2_HUMAN	developing brain homeobox 2	157						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R157W(1)		endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	22	Lung SC(27;0.192)	Lung NSC(34;0.142)		GBM - Glioblastoma multiforme(48;0.0515)		gcagggcgccgacaggaccca	0.488000													3	8					0.150653	0.150653	1	1	0
CACNA1E	777	broad.mit.edu	37	1	181689976	181689976	+	Silent	SNP	C	C	T			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr1:181689976C>T	ENST00000526775.1	+	15	2106	c.1941C>T	c.(1939-1941)atC>atT	p.I647I	CACNA1E_ENST00000367567.4_Silent_p.I254I|CACNA1E_ENST00000357570.5_Silent_p.I598I|CACNA1E_ENST00000360108.3_Silent_p.I647I|CACNA1E_ENST00000367570.1_Silent_p.I647I|CACNA1E_ENST00000358338.5_Silent_p.I598I|CACNA1E_ENST00000367573.2_Silent_p.I647I	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	647					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CTGCAGCCATCATGACTGTGT	0.428000													15	23					0	0	1	0	0
TPR	7175	broad.mit.edu	37	1	186292875	186292875	+	Silent	SNP	T	T	C			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr1:186292875T>C	ENST00000367478.4	-	43	6536	c.6240A>G	c.(6238-6240)ccA>ccG	p.P2080P		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein						carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TTGGGGGAAGTGGATGTGGTG	0.478000			T	NTRK1	papillary thyroid								130	80					0	0	1	0	0
RNF215	200312	broad.mit.edu	37	22	30776328	30776328	+	Silent	SNP	G	G	A			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr22:30776328G>A	ENST00000382363.3	-	6	881	c.807C>T	c.(805-807)ctC>ctT	p.L269L		NM_001017981.1	NP_001017981.1	Q9Y6U7	RN215_HUMAN	ring finger protein 215	269						integral to membrane	zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)	6						CCTGGACCACGAGGCCTGTGC	0.701000													12	31					0	0	1	0	0
MPPE1	65258	broad.mit.edu	37	18	11893482	11893482	+	Missense_Mutation	SNP	C	C	A			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr18:11893482C>A	ENST00000588072.1	-	4	1596	c.375G>T	c.(373-375)aaG>aaT	p.K125N	MPPE1_ENST00000399978.2_Missense_Mutation_p.K125N|MPPE1_ENST00000344987.7_Missense_Mutation_p.K125N|MPPE1_ENST00000309976.9_Missense_Mutation_p.K125N|MPPE1_ENST00000317235.7_Missense_Mutation_p.K125N	NM_023075.5	NP_075563.3	Q53F39	MPPE1_HUMAN	metallophosphoesterase 1	125					ER to Golgi vesicle-mediated transport|GPI anchor biosynthetic process	cis-Golgi network|endoplasmic reticulum exit site|ER-Golgi intermediate compartment membrane|integral to membrane	GPI anchor binding|manganese ion binding|phosphoric diester hydrolase activity			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5						GGGTGCTCCACTTCCCTTCAT	0.542000													19	23					5.03518e-11	5.28034e-11	1	1	0
EVI5L	115704	broad.mit.edu	37	19	7927312	7927312	+	Silent	SNP	G	G	A			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr19:7927312G>A	ENST00000270530.4	+	16	2002	c.1806G>A	c.(1804-1806)gcG>gcA	p.A602A	EVI5L_ENST00000538904.2_Silent_p.A613A	NM_145245.3	NP_660288.1	Q96CN4	EVI5L_HUMAN	ecotropic viral integration site 5-like	602						intracellular	protein binding|Rab GTPase activator activity			breast(1)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	12						GCGTGGAGGCGGAGCGCGCGG	0.682000													7	24					0	0	1	0	0
OAS3	4940	broad.mit.edu	37	12	113386987	113386987	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr12:113386987C>T	ENST00000228928.7	+	6	1530	c.1351C>T	c.(1351-1353)Cac>Tac	p.H451Y	RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	451	OAS domain 2.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						GAACTGTGTTCACAAGGCCTC	0.562000													21	25					0	0	1	0	0
PHF21B	112885	broad.mit.edu	37	22	45312307	45312307	+	Silent	SNP	G	G	A			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr22:45312307G>A	ENST00000313237.5	-	4	567	c.417C>T	c.(415-417)ctC>ctT	p.L139L	PHF21B_ENST00000404079.2_Silent_p.L127L|PHF21B_ENST00000396103.3_Silent_p.L139L|PHF21B_ENST00000447824.3_Silent_p.L127L|PHF21B_ENST00000403565.1_5'UTR	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN	PHD finger protein 21B	139							zinc ion binding	p.L139L(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		GCGGAGAGGCGAGGGCGGCGG	0.716000													10	13					0	0	1	0	0
JDP2	122953	broad.mit.edu	37	14	75904735	75904735	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr14:75904735G>A	ENST00000435893.2	+	2	385	c.112G>A	c.(112-114)Gct>Act	p.A38T	JDP2_ENST00000267569.5_Missense_Mutation_p.A49T|JDP2_ENST00000419727.2_Missense_Mutation_p.A38T|JDP2_ENST00000559773.1_3'UTR|JDP2_ENST00000437176.1_Missense_Mutation_p.A38T	NM_001135047.1|NM_130469.3	NP_001128519.1|NP_569736.1	Q8WYK2	JDP2_HUMAN	Jun dimerization protein 2	38						nucleus	sequence-specific DNA binding			lung(2)	2				BRCA - Breast invasive adenocarcinoma(234;0.0296)		GCTGAAATACGCTGACATCCG	0.647000													9	8					0	0	1	0	0
OR2W3	343171	broad.mit.edu	37	1	248059175	248059175	+	Missense_Mutation	SNP	G	G	A	rs139324473		TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr1:248059175G>A	ENST00000537741.1	+	3	544	c.287G>A	c.(286-288)gGc>gAc	p.G96D	OR2W3_ENST00000360358.3_Missense_Mutation_p.G96D			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AGCTACATGGGCTGTGCCATC	0.572000													28	40					0	0	1	0	0
MBD5	55777	broad.mit.edu	37	2	149226293	149226293	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr2:149226293C>T	ENST00000407073.1	+	9	1778	c.781C>T	c.(781-783)Ccc>Tcc	p.P261S	MBD5_ENST00000404807.1_Missense_Mutation_p.P261S	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	261						chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		TCATGGAGCTCCCAATTCTAG	0.453000													28	58					0	0	1	0	0
VPS33A	65082	broad.mit.edu	37	12	122729211	122729211	+	Missense_Mutation	SNP	C	C	A			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr12:122729211C>A	ENST00000267199.4	-	7	986	c.874G>T	c.(874-876)Gca>Tca	p.A292S	RP11-512M8.5_ENST00000535844.1_Missense_Mutation_p.A253S	NM_022916.4	NP_075067.2	Q96AX1	VP33A_HUMAN	vacuolar protein sorting 33 homolog A (S. cerevisiae)	292					lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		AGCTCCTCTGCAGAATTCAGC	0.483000													32	46					1.80694e-10	1.88785e-10	1	1	0
KIAA1324	57535	broad.mit.edu	37	1	109740184	109740184	+	Missense_Mutation	SNP	A	A	G			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr1:109740184A>G	ENST00000369939.3	+	16	2393	c.2210A>G	c.(2209-2211)tAc>tGc	p.Y737C	KIAA1324_ENST00000529753.1_Missense_Mutation_p.Y650C|KIAA1324_ENST00000369938.1_3'UTR	NM_020775.4	NP_065826	Q6UXG2	K1324_HUMAN	KIAA1324	737					macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		ATCACAGCCTACGTCTGCCAG	0.547000													25	34					0	0	1	0	0
ZMPSTE24	10269	broad.mit.edu	37	1	40737616	40737616	+	Missense_Mutation	SNP	C	C	A			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr1:40737616C>A	ENST00000372759.3	+	6	843	c.678C>A	c.(676-678)ttC>ttA	p.F226L		NM_005857.4	NP_005848.2	O75844	FACE1_HUMAN	zinc metallopeptidase STE24	226						endoplasmic reticulum membrane|Golgi membrane|integral to membrane	metal ion binding|metalloexopeptidase activity			endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	16	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			TTGACAAATTCACACCTCTGC	0.348000													27	69					1.39806e-14	1.48842e-14	1	1	0
PRKDC	5591	broad.mit.edu	37	8	48771136	48771136	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr8:48771136G>A	ENST00000314191.2	-	49	6459	c.6403C>T	c.(6403-6405)Cca>Tca	p.P2135S	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.P2135S	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2136					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				GGTACTATTGGATTTCCCAGT	0.323000								Non-homologous end-joining					4	5					0	0	1	0	0
TBL1X	6907	broad.mit.edu	37	X	9622318	9622318	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chrX:9622318G>A	ENST00000217964.7	+	5	807	c.167G>A	c.(166-168)aGt>aAt	p.S56N	TBL1X_ENST00000536365.1_Missense_Mutation_p.S5N|TBL1X_ENST00000424279.1_Missense_Mutation_p.S5N|TBL1X_ENST00000380961.1_Missense_Mutation_p.S5N|TBL1X_ENST00000407597.2_Missense_Mutation_p.S56N	NM_005647.3	NP_005638.1	O60907	TBL1X_HUMAN	transducin (beta)-like 1X-linked	56	LisH.				canonical Wnt receptor signaling pathway|cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|sensory perception of sound|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein C-terminus binding|protein domain specific binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(2)|cervix(1)|endometrium(5)|large_intestine(7)|lung(2)|ovary(1)|skin(2)	20		Hepatocellular(5;0.000888)				AGCATAACCAGTGACGAGGTG	0.468000													20	7					0	0	1	0	0
CFHR2	3080	broad.mit.edu	37	1	196928202	196928202	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr1:196928202G>A	ENST00000367415.5	+	5	905	c.805G>A	c.(805-807)Gaa>Aaa	p.E269K	CFHR2_ENST00000476712.2_Missense_Mutation_p.E253K|CFHR2_ENST00000496448.1_3'UTR|CFHR2_ENST00000367421.3_Missense_Mutation_p.E269K	NM_005666.2	NP_005657.1	P36980	FHR2_HUMAN	complement factor H-related 2							extracellular region				large_intestine(2)|ovary(1)|skin(3)	6						CAGTTGTGAAGAAAAATAGAA	0.294000													11	53					0	0	1	0	0
PRSS12	8492	broad.mit.edu	37	4	119229621	119229621	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr4:119229621G>A	ENST00000296498.3	-	8	1883	c.1601C>T	c.(1600-1602)gCa>gTa	p.A534V		NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	534	SRCR 4.					membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						GATCACAGCTGCATCCTTATC	0.393000													45	45					0	0	1	0	0
AZU1	566	broad.mit.edu	37	19	830927	830927	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr19:830927G>A	ENST00000233997.2	+	4	601	c.580G>A	c.(580-582)Ggt>Agt	p.G194S		NM_001700.3	NP_001691.1	P20160	CAP7_HUMAN	azurocidin 1	194	Peptidase S1.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cellular extravasation|defense response to Gram-negative bacterium|glial cell migration|induction of positive chemotaxis|inflammatory response|macrophage chemotaxis|microglial cell activation|monocyte activation|positive regulation of cell adhesion|positive regulation of fractalkine biosynthetic process|positive regulation of interleukin-1 beta biosynthetic process|positive regulation of MHC class II biosynthetic process|positive regulation of phagocytosis|positive regulation of tumor necrosis factor biosynthetic process|proteolysis|regulation of vascular permeability	azurophil granule|extracellular region	heparin binding|serine-type endopeptidase activity|toxin binding			NS(1)|endometrium(1)|kidney(1)|lung(4)|pancreas(1)|upper_aerodigestive_tract(2)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CACCCGCCGCGGTGGCATCTG	0.642000													22	23					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152651023	152651023	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr6:152651023C>G	ENST00000367255.5	-	78	15398	c.14797G>C	c.(14797-14799)Gag>Cag	p.E4933Q	SYNE1_ENST00000423061.1_Missense_Mutation_p.E4862Q|SYNE1_ENST00000265368.4_Missense_Mutation_p.E4933Q|SYNE1_ENST00000448038.1_Missense_Mutation_p.E4862Q|SYNE1_ENST00000341594.5_Missense_Mutation_p.E4680Q	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4933					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GACTGGACCTCTTCCTGATGA	0.488000										HNSCC(10;0.0054)			66	113					0	0	1	0	0
PLAU	5328	broad.mit.edu	37	10	75673349	75673349	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr10:75673349G>C	ENST00000446342.1	+	6	944	c.462G>C	c.(460-462)aaG>aaC	p.K154N	PLAU_ENST00000494287.1_3'UTR|PLAU_ENST00000372764.3_Missense_Mutation_p.K171N|C10orf55_ENST00000409178.1_Intron|C10orf55_ENST00000412307.2_Intron|PLAU_ENST00000372762.4_Missense_Mutation_p.K135N	NM_001145031.1	NP_001138503	P00749	UROK_HUMAN	plasminogen activator, urokinase	171	Connecting peptide.				blood coagulation|chemotaxis|fibrinolysis|proteolysis|regulation of cell adhesion mediated by integrin|regulation of receptor activity|regulation of smooth muscle cell migration|regulation of smooth muscle cell-matrix adhesion|signal transduction	cell surface|extracellular space|plasma membrane	serine-type endopeptidase activity			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(3)|ovary(2)	16	Prostate(51;0.0112)				Amiloride(DB00594)|Urokinase(DB00013)	GTGGCCAAAAGACTCTGAGGC	0.532000													96	151					0	0	1	0	0
C6orf10	10665	broad.mit.edu	37	6	32261223	32261223	+	Silent	SNP	C	C	T			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr6:32261223C>T	ENST00000375015.4	-	26	1424	c.1224G>A	c.(1222-1224)caG>caA	p.Q408Q	C6orf10_ENST00000533191.1_Silent_p.Q407Q|C6orf10_ENST00000527965.1_Silent_p.Q393Q|C6orf10_ENST00000375007.4_Silent_p.Q407Q|C6orf10_ENST00000447241.2_Silent_p.Q409Q|C6orf10_ENST00000442822.2_Silent_p.Q400Q			Q5SRN2	CF010_HUMAN	chromosome 6 open reading frame 10	409						integral to membrane				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						CCTGGGCTTCCTGTCCTTTCA	0.483000													34	61					0	0	1	0	0
ZNF37BP	100129482	broad.mit.edu	37	10	43019103	43019103	+	RNA	SNP	C	C	T			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr10:43019103C>T	ENST00000452075.3	-	0	851					NR_026777.1																						TCACATTCCTCTACAGGGTCC	0.478000													27	38					0	0	1	0	0
SLC4A11	83959	broad.mit.edu	37	20	3208485	3208485	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr20:3208485C>T	ENST00000380059.3	-	20	2806	c.2705G>A	c.(2704-2706)cGa>cAa	p.R902Q	SLC4A11_ENST00000380056.3_Missense_Mutation_p.R875Q|SLC4A11_ENST00000539553.2_Missense_Mutation_p.R859Q	NM_001174090.1	NP_001167561.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	875					cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						TTCAATGATTCGGGGCAGCAG	0.632000													5	23					0	0	1	0	0
DPF3	8110	broad.mit.edu	37	14	73138024	73138024	+	Silent	SNP	C	C	T			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr14:73138024C>T	ENST00000541685.1	-	9	906	c.894G>A	c.(892-894)agG>agA	p.R298R	DPF3_ENST00000556509.1_Intron|DPF3_ENST00000557704.1_5'UTR|DPF3_ENST00000546183.1_Silent_p.R308R	NM_012074.3	NP_036206.3	Q92784	DPF3_HUMAN	D4, zinc and double PHD fingers, family 3	127					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex	nucleic acid binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		CCTTCTCCTTCCTGCCTTCTC	0.463000													21	31					0	0	1	0	0
OR3A2	4995	broad.mit.edu	37	17	3181445	3181445	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr17:3181445C>G	ENST00000408891.2	-	1	823	c.785G>C	c.(784-786)gGa>gCa	p.G262A		NM_002551.3	NP_002542.3	P47893	OR3A2_HUMAN	olfactory receptor, family 3, subfamily A, member 2	262					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			ovary(1)	1						GATACCTCTTCCAAAGAAAAG	0.502000													31	43					0	0	1	0	0
SMARCC2	6601	broad.mit.edu	37	12	56578721	56578721	+	Splice_Site	SNP	C	C	T			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr12:56578721C>T	ENST00000394023.3	-	5	505		c.e5-1		SMARCC2_ENST00000550164.1_Splice_Site|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000267064.4_Splice_Site|SMARCC2_ENST00000550859.1_Splice_Site|SMARCC2_ENST00000347471.4_Splice_Site	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2						chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			GGCAATTATTCTGTGGAGAGA	0.398000													12	65					0	0	1	0	0
PHLDA1	22822	broad.mit.edu	37	12	76424666	76424666	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr12:76424666G>A	ENST00000266671.5	-	1	3046	c.856C>T	c.(856-858)Cgt>Tgt	p.R286C	PHLDA1_ENST00000602540.1_Missense_Mutation_p.R145C|RP11-290L1.3_ENST00000552367.1_RNA			Q8WV24	PHLA1_HUMAN	pleckstrin homology-like domain, family A, member 1	286					apoptosis	cytoplasmic vesicle membrane|nucleolus|plasma membrane	protein binding	p.R286G(1)		breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	14		Colorectal(145;0.09)				ATGGCCTGACGATTCTTGTAC	0.647000													5	5					0	0	1	0	0
DSPP	1834	broad.mit.edu	37	4	88533891	88533891	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr4:88533891C>G	ENST00000399271.1	+	4	673	c.553C>G	c.(553-555)Caa>Gaa	p.Q185E	DSPP_ENST00000282478.7_Missense_Mutation_p.Q185E|RP11-742B18.1_ENST00000506480.1_RNA	NM_014208.3	NP_055023.2	Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	185					biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		AGATGGACCTCAAGTAGCTGG	0.403000													7	20					0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10321966	10321966	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr17:10321966C>G	ENST00000403437.2	-	5	601	c.507G>C	c.(505-507)ttG>ttC	p.L169F	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	169	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						ACTCACCAGTCAACATGAACT	0.473000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				27	145					0	0	1	0	0
HEATR3	55027	broad.mit.edu	37	16	50138886	50138886	+	Nonsense_Mutation	SNP	C	C	T			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr16:50138886C>T	ENST00000299192.7	+	15	2148	c.1957C>T	c.(1957-1959)Cag>Tag	p.Q653*	RP11-429P3.5_ENST00000566770.1_RNA|HEATR3_ENST00000285767.4_Nonsense_Mutation_p.Q567*	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	653							binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						TAGCACAGATCAGCTGTGTGT	0.303000													36	56					0	0	1	0	0
FARS2	10667	broad.mit.edu	37	6	5404869	5404869	+	Missense_Mutation	SNP	T	T	G			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr6:5404869T>G	ENST00000324331.6	+	3	1043	c.707T>G	c.(706-708)gTg>gGg	p.V236G	FARS2_ENST00000274680.4_Missense_Mutation_p.V236G			O95363	SYFM_HUMAN	phenylalanyl-tRNA synthetase 2, mitochondrial	236					phenylalanyl-tRNA aminoacylation|tRNA processing	mitochondrial matrix|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2)	15	Ovarian(93;0.11)	all_hematologic(90;0.0104)			L-Phenylalanine(DB00120)	ATGGAGGCCGTGAAGCTTGTA	0.443000													33	55					0	0	1	0	0
SPECC1L	23384	broad.mit.edu	37	22	24730490	24730490	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr22:24730490C>G	ENST00000314328.9	+	9	2794	c.2509C>G	c.(2509-2511)Cca>Gca	p.P837A	SPECC1L_ENST00000437398.1_Missense_Mutation_p.P837A|SPECC1L-ADORA2A_ENST00000358654.2_Missense_Mutation_p.P837A|SPECC1L_ENST00000541492.1_Missense_Mutation_p.P837A	NM_001254733.1|NM_015330.3	NP_001241662.1|NP_056145	Q69YQ0	CYTSA_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1-like	837					cell cycle|cell division					breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						TTCCTCAGAGCCAACTCCTAC	0.473000													31	63					0	0	1	0	0
PCDHA2	56146	broad.mit.edu	37	5	140175344	140175344	+	Silent	SNP	C	C	T	rs150248027	byFrequency	TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr5:140175344C>T	ENST00000526136.1	+	1	795	c.795C>T	c.(793-795)aaC>aaT	p.N265N	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Silent_p.N265N|PCDHA2_ENST00000520672.2_Silent_p.N265N|PCDHA1_ENST00000394633.3_Intron	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTAAGTTAAACGCTTCTGATG	0.388000													52	21					0	0	1	0	0
PTK2B	2185	broad.mit.edu	37	8	27294953	27294953	+	Silent	SNP	G	G	A			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr8:27294953G>A	ENST00000397501.1	+	22	2275	c.1467G>A	c.(1465-1467)ctG>ctA	p.L489L	PTK2B_ENST00000397497.4_Silent_p.L235L|PTK2B_ENST00000338238.4_Silent_p.L489L|PTK2B_ENST00000544172.1_Silent_p.L489L|PTK2B_ENST00000420218.2_Silent_p.L489L|PTK2B_ENST00000517339.1_Silent_p.L489L|PTK2B_ENST00000346049.5_Silent_p.L489L	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	489	Protein kinase.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		TCGTGAAGCTGATCGGCATCA	0.552000													14	60					0	0	1	0	0
TUBGCP2	10844	broad.mit.edu	37	10	135111588	135111588	+	Nonsense_Mutation	SNP	G	G	A			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr10:135111588G>A	ENST00000368563.2	-	5	840	c.484C>T	c.(484-486)Cga>Tga	p.R162*	TUBGCP2_ENST00000252936.3_Nonsense_Mutation_p.R162*|TUBGCP2_ENST00000417178.2_Nonsense_Mutation_p.R32*|TUBGCP2_ENST00000543663.1_Nonsense_Mutation_p.R162*	NM_001256617.1|NM_006659.3	NP_001243546.1|NP_006650.1	Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	162					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding			breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		TGCTTGTCTCGAAGCATCTTT	0.433000													13	25					0	0	1	0	0
ZNF92	168374	broad.mit.edu	37	7	64863321	64863321	+	Silent	SNP	G	G	C			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr7:64863321G>C	ENST00000328747.7	+	4	493	c.294G>C	c.(292-294)gtG>gtC	p.V98V	ZNF92_ENST00000357512.2_Silent_p.V66V|ZNF92_ENST00000450302.2_Silent_p.V29V|ZNF92_ENST00000431504.1_Silent_p.V22V	NM_152626.2	NP_689839.1	Q03936	ZNF92_HUMAN	zinc finger protein 92	98						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|skin(1)|stomach(1)	13		Lung NSC(55;0.159)				TCCAAAAAGTGATACTGAGAA	0.333000													30	46					0	0	1	0	0
VWA7	80737	broad.mit.edu	37	6	31743869	31743869	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr6:31743869C>T	ENST00000375686.3	-	3	622	c.385G>A	c.(385-387)Gat>Aat	p.D129N	VWA7_ENST00000375688.4_Missense_Mutation_p.D129N|VWA7_ENST00000447450.1_Missense_Mutation_p.D129N|VWA7_ENST00000467576.1_Intron	NM_025258.2	NP_079534.2	Q9Y334	G7C_HUMAN	von Willebrand factor A domain containing 7	129						extracellular region											CGCTCAGCATCAAAGTGCAGG	0.652000													35	46					0	0	1	0	0
ARHGAP9	64333	broad.mit.edu	37	12	57873095	57873095	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr12:57873095G>A	ENST00000393797.2	-	5	500	c.308C>T	c.(307-309)gCc>gTc	p.A103V	ARHGAP9_ENST00000550288.1_Missense_Mutation_p.A111V|ARHGAP9_ENST00000424809.2_Missense_Mutation_p.A32V|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.A32V|ARHGAP9_ENST00000356411.2_Missense_Mutation_p.A32V			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	32					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			ATAAGTAAAGGCATAGAGGGC	0.592000													33	33					0	0	1	0	0
FARP1	10160	broad.mit.edu	37	13	99092955	99092955	+	Silent	SNP	G	G	A			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr13:99092955G>A	ENST00000376586.2	+	25	3090	c.2754G>A	c.(2752-2754)caG>caA	p.Q918Q	FARP1_ENST00000319562.6_Silent_p.Q887Q|FARP1_ENST00000595437.1_Silent_p.Q918Q			Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	887					regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			CGGCTGACCAGGAGTCAGAGG	0.627000													13	37					0	0	1	0	0
TP53BP1	7158	broad.mit.edu	37	15	43707960	43707960	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr15:43707960G>A	ENST00000263801.3	-	23	5158	c.4906C>T	c.(4906-4908)Cca>Tca	p.P1636S	TP53BP1_ENST00000382044.4_Missense_Mutation_p.P1641S|TP53BP1_ENST00000450115.2_Missense_Mutation_p.P1641S|TP53BP1_ENST00000382039.3_Missense_Mutation_p.P1591S	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1636					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		GGGGTGGCTGGGGAGCTGACG	0.537000								Other conserved DNA damage response genes					54	82					0	0	1	0	0
MTHFD1L	25902	broad.mit.edu	37	6	151203904	151203904	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr6:151203904G>C	ENST00000367321.3	+	5	698	c.424G>C	c.(424-426)Gat>Cat	p.D142H	MTHFD1L_ENST00000367307.4_Missense_Mutation_p.D142H	NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	142	Methylenetetrahydrofolate dehydrogenase and cyclohydrolase.				folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		TTAGATTATAGATGAAATCTT	0.318000													7	44					0	0	1	0	0
CDC20	991	broad.mit.edu	37	1	43826470	43826470	+	Silent	SNP	G	G	A			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr1:43826470G>A	ENST00000372462.1	+	7	1118	c.915G>A	c.(913-915)ctG>ctA	p.L305L	CDC20_ENST00000478882.1_3'UTR|CDC20_ENST00000310955.6_Silent_p.L305L			Q12834	CDC20_HUMAN	cell division cycle 20	305					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	cytosol|nucleoplasm|spindle	enzyme binding|protein C-terminus binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TGGCCACACTGAGTGGCCACA	0.557000													29	43					0	0	1	0	0
UST	10090	broad.mit.edu	37	6	149068783	149068783	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr6:149068783C>G	ENST00000367463.4	+	1	320	c.217C>G	c.(217-219)Cgc>Ggc	p.R73G		NM_005715.2	NP_005706.1	Q9Y2C2	UST_HUMAN	uronyl-2-sulfotransferase	73					protein sulfation	Golgi membrane|integral to membrane	sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(2)	12		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138)		GGGACCCCCTCGCTTCCTGCT	0.672000													7	3					0	0	1	0	0
APOH	350	broad.mit.edu	37	17	64222145	64222145	+	Splice_Site	SNP	C	C	T	rs138141538	byFrequency	TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr17:64222145C>T	ENST00000205948.6	-	3	376		c.e3+1			NM_000042.2	NP_000033.2	P02749	APOH_HUMAN	apolipoprotein H (beta-2-glycoprotein I)						blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport	cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			AAAGTTCTTACCCAGTGTTAC	0.383000													22	21					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152774762	152774762	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr6:152774762C>T	ENST00000367255.5	-	25	3587	c.2986G>A	c.(2986-2988)Ggg>Agg	p.G996R	SYNE1_ENST00000423061.1_Missense_Mutation_p.G1003R|SYNE1_ENST00000413186.2_Missense_Mutation_p.G996R|SYNE1_ENST00000367253.4_Missense_Mutation_p.G996R|SYNE1_ENST00000367248.3_Missense_Mutation_p.G986R|SYNE1_ENST00000265368.4_Missense_Mutation_p.G996R|SYNE1_ENST00000495090.2_Missense_Mutation_p.G563R|SYNE1_ENST00000448038.1_Missense_Mutation_p.G1003R|SYNE1_ENST00000341594.5_Missense_Mutation_p.G1062R	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	996					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCCTGCAGCCCCTGCTGCTCC	0.522000										HNSCC(10;0.0054)			52	96					0	0	1	0	0
MYBPC1	4604	broad.mit.edu	37	12	102064141	102064141	+	Missense_Mutation	SNP	A	A	G			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr12:102064141A>G	ENST00000549145.1	+	24	2685	c.2585A>G	c.(2584-2586)tAt>tGt	p.Y862C	MYBPC1_ENST00000550270.1_Missense_Mutation_p.Y849C|MYBPC1_ENST00000545503.2_Missense_Mutation_p.Y831C|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000360610.2_Missense_Mutation_p.Y849C|MYBPC1_ENST00000553190.1_Missense_Mutation_p.Y831C|MYBPC1_ENST00000541119.1_Missense_Mutation_p.Y819C|MYBPC1_ENST00000551300.1_Missense_Mutation_p.Y732C|MYBPC1_ENST00000547405.1_Missense_Mutation_p.Y805C|MYBPC1_ENST00000361466.2_Missense_Mutation_p.Y856C|MYBPC1_ENST00000392934.3_Missense_Mutation_p.Y818C|MYBPC1_ENST00000547509.1_Missense_Mutation_p.Y817C|MYBPC1_ENST00000452455.2_Missense_Mutation_p.Y849C|MYBPC1_ENST00000361685.2_Missense_Mutation_p.Y856C|MYBPC1_ENST00000441232.1_Missense_Mutation_p.Y849C|MYBPC1_ENST00000536007.1_Missense_Mutation_p.Y812C			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	849	Ig-like C2-type 6.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						AAGCAAACCTATATCCGCAGA	0.428000													44	77					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186022145	186022145	+	Silent	SNP	C	C	T			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr1:186022145C>T	ENST00000271588.4	+	43	6868	c.6639C>T	c.(6637-6639)ctC>ctT	p.L2213L	HMCN1_ENST00000367492.2_Silent_p.L2213L	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2213	Ig-like C2-type 20.				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						AAGGGAATCTCATTAGTCTGT	0.333000													47	109					0	0	1	0	0
UTRN	7402	broad.mit.edu	37	6	144999708	144999708	+	Missense_Mutation	SNP	G	G	T			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr6:144999708G>T	ENST00000367545.3	+	51	7646	c.7646G>T	c.(7645-7647)aGc>aTc	p.S2549I	UTRN_ENST00000367526.4_Missense_Mutation_p.S104I	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2549					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		AAATCTGCTAGCATCAGGTCA	0.373000													5	14					0.014758	0.0148642	1	1	0
SLC27A6	28965	broad.mit.edu	37	5	128364066	128364066	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr5:128364066G>A	ENST00000262462.4	+	8	2493	c.1483G>A	c.(1483-1485)Gag>Aag	p.E495K	SLC27A6_ENST00000395266.1_Missense_Mutation_p.E495K|SLC27A6_ENST00000506176.1_Missense_Mutation_p.E495K			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	495					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		CGCAACCACTGAGGTTGCTGA	0.338000													27	18					0	0	1	0	0
AKAP6	9472	broad.mit.edu	37	14	33015058	33015058	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr14:33015058C>G	ENST00000280979.4	+	4	1369	c.1199C>G	c.(1198-1200)aCt>aGt	p.T400S	AKAP6_ENST00000557354.1_Missense_Mutation_p.T400S|AKAP6_ENST00000557272.1_Missense_Mutation_p.T400S	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	400					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		AAAGAGGAAACTTTTAAGAAT	0.443000													34	52					0	0	1	0	0
FBXO42	54455	broad.mit.edu	37	1	16577371	16577371	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr1:16577371C>T	ENST00000375592.3	-	10	2164	c.1948G>A	c.(1948-1950)Gac>Aac	p.D650N		NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	650										autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		TCTTTAATGTCCAGCACGTAC	0.517000													59	121					0	0	1	0	0
CES3	23491	broad.mit.edu	37	16	67005087	67005087	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr16:67005087G>C	ENST00000303334.4	+	10	1227	c.1156G>C	c.(1156-1158)Gag>Cag	p.E386Q	CES3_ENST00000394037.1_Missense_Mutation_p.E386Q|CES3_ENST00000543856.1_Missense_Mutation_p.E25Q	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN	carboxylesterase 3	386						endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		TGTGCCCCCTGAGATGATGCC	0.557000													15	25					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49428629	49428629	+	Nonsense_Mutation	SNP	G	G	A			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr12:49428629G>A	ENST00000301067.7	-	35	10320	c.10321C>T	c.(10321-10323)Cag>Tag	p.Q3441*		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		ATGCTGCCCTGAGCCATCACT	0.527000													32	41					0	0	1	0	0
SLC17A4	10050	broad.mit.edu	37	6	25777065	25777065	+	Silent	SNP	C	C	G	rs144139612	byFrequency	TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr6:25777065C>G	ENST00000377905.4	+	10	1265	c.1146C>G	c.(1144-1146)ctC>ctG	p.L382L	SLC17A4_ENST00000439485.2_Silent_p.L152L|SLC17A4_ENST00000397076.2_Silent_p.L180L	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4	382					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CCGTGATCCTCGTGTCCCTGC	0.552000													46	60					0	0	1	0	0
CCDC116	164592	broad.mit.edu	37	22	21990804	21990804	+	Missense_Mutation	SNP	C	C	A			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr22:21990804C>A	ENST00000292779.3	+	5	1448	c.1287C>A	c.(1285-1287)aaC>aaA	p.N429K		NM_152612.2	NP_689825.2	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	429										endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					ACTTCTCCAACCGCCTTTATG	0.592000													17	18					6.94344e-10	7.17404e-10	1	1	0
CD200R1L	344807	broad.mit.edu	37	3	112546431	112546431	+	Silent	SNP	C	C	G			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr3:112546431C>G	ENST00000488794.1	-	5	739	c.150G>C	c.(148-150)ctG>ctC	p.L50L	CD200R1L_ENST00000398214.1_Silent_p.L71L|CD200R1L_ENST00000448932.1_Silent_p.L50L			Q6Q8B3	MO2R2_HUMAN	CD200 receptor 1-like	71	Ig-like V-type.					integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						GCTGGCCTCTCAGGATTATTT	0.413000													13	103					0	0	1	0	0
NADSYN1	55191	broad.mit.edu	37	11	71183505	71183505	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr11:71183505G>C	ENST00000319023.2	+	6	606	c.418G>C	c.(418-420)Gag>Cag	p.E140Q		NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1	140	CN hydrolase.				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GCACACAGAGGAGTACTTTCT	0.517000													84	83					0	0	1	0	0
ZNF174	7727	broad.mit.edu	37	16	3454675	3454675	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr16:3454675C>G	ENST00000572544.1	+	2	683	c.652C>G	c.(652-654)Ctc>Gtc	p.L218V	ZNF174_ENST00000571936.1_Intron|ZNF174_ENST00000344823.5_Intron|ZNF174_ENST00000575752.1_Intron|ZNF174_ENST00000268655.4_Intron			Q15697	ZN174_HUMAN	zinc finger protein 174	0					negative regulation of transcription from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|cytoplasm|nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|urinary_tract(2)	12						TTCTCTCCCTCTCATCAGCCC	0.443000													10	15					0	0	1	0	0
ALG13	79868	broad.mit.edu	37	X	111000832	111000832	+	Missense_Mutation	SNP	A	A	G			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chrX:111000832A>G	ENST00000394780.3	+	26	3002	c.2990A>G	c.(2989-2991)tAc>tGc	p.Y997C	ALG13_ENST00000470971.1_3'UTR|ALG13_ENST00000251943.4_Missense_Mutation_p.Y814C	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	997					dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity			endometrium(2)|lung(10)|skin(1)	13						TACCACAGCTACTGGCACTCC	0.418000													4	4					0	0	1	0	0
ABCB5	340273	broad.mit.edu	37	7	20795234	20795234	+	Missense_Mutation	SNP	A	A	T			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr7:20795234A>T	ENST00000404938.2	+	28	4413	c.3761A>T	c.(3760-3762)cAg>cTg	p.Q1254L	ABCB5_ENST00000258738.6_Missense_Mutation_p.Q809L	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	809					regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						GTGAATGCACAGTCAGTGCAG	0.368000													22	18					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228883065	228883065	+	Silent	SNP	C	C	T			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr2:228883065C>T	ENST00000392056.3	-	7	2551	c.2505G>A	c.(2503-2505)ctG>ctA	p.L835L	SPHKAP_ENST00000344657.5_Silent_p.L835L	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	835						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CTATTCCTTTCAGATATATTT	0.488000													145	297					0	0	1	0	0
TRAK1	22906	broad.mit.edu	37	3	42166928	42166928	+	Silent	SNP	C	C	T	rs35816590		TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr3:42166928C>T	ENST00000327628.5	+	2	508	c.108C>T	c.(106-108)acC>acT	p.T36T	TRAK1_ENST00000487159.1_3'UTR	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	36					endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						GCAACAGCACCGATCTTCCGG	0.502000													15	20					0	0	1	0	0
IGHV4OR15-8	28317	broad.mit.edu	37	15	22473056	22473056	+	RNA	SNP	T	T	G			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr15:22473056T>G	ENST00000557788.2	-	0	214																											CCCACTATGATAGATTTCCCC	0.562000													34	102					0	0	1	0	0
TRAIP	10293	broad.mit.edu	37	3	49867474	49867474	+	Silent	SNP	C	C	T			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr3:49867474C>T	ENST00000331456.2	-	12	1178	c.1065G>A	c.(1063-1065)aaG>aaA	p.K355K	TRAIP_ENST00000469027.1_Silent_p.K200K	NM_005879.2	NP_005870.2	Q9BWF2	TRAIP_HUMAN	TRAF interacting protein	355	Interaction with CYLD.				cell proliferation|induction of apoptosis	perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTTTGCATATCTTCTTGGGGA	0.532000													26	61					0	0	1	0	0
PRKCH	5583	broad.mit.edu	37	14	61919978	61919978	+	Silent	SNP	G	G	A			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr14:61919978G>A	ENST00000332981.5	+	7	1252	c.867G>A	c.(865-867)gcG>gcA	p.A289A	PRKCH_ENST00000555082.1_Silent_p.A128A	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN	protein kinase C, eta	289					intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		GATGTCAAGCGAACGTGGCCC	0.473000													34	78					0	0	1	0	0
PAGR1	79447	broad.mit.edu	37	16	29831039	29831039	+	Silent	SNP	C	C	A			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr16:29831039C>A	ENST00000320330.6	+	3	1291	c.729C>A	c.(727-729)tcC>tcA	p.S243S	AC009133.20_ENST00000569039.1_RNA|PAGR1_ENST00000609618.1_Silent_p.S243S|AC009133.12_ENST00000569809.1_RNA|AC009133.12_ENST00000564980.1_RNA					PAXIP1 associated glutamate-rich protein 1																		TCCGATCCTCCGGGAGTAGTC	0.642000													3	42					0.150653	0.150653	1	1	0
MRPL55	128308	broad.mit.edu	37	1	228295526	228295526	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr1:228295526C>T	ENST00000366731.5	-	5	972	c.179G>A	c.(178-180)cGc>cAc	p.R60H	MRPL55_ENST00000366734.1_Missense_Mutation_p.R24H|MRPL55_ENST00000411464.2_Missense_Mutation_p.R24H|MRPL55_ENST00000295008.4_Missense_Mutation_p.R24H|MRPL55_ENST00000366738.1_Missense_Mutation_p.R60H|MRPL55_ENST00000336300.5_Missense_Mutation_p.R24H|MRPL55_ENST00000366746.3_Missense_Mutation_p.R24H|MRPL55_ENST00000366747.3_Missense_Mutation_p.R24H|MRPL55_ENST00000366740.1_Missense_Mutation_p.R24H|MRPL55_ENST00000391867.3_Missense_Mutation_p.R24H|MRPL55_ENST00000430433.1_Missense_Mutation_p.R60H|MRPL55_ENST00000366732.1_Missense_Mutation_p.R21H|MRPL55_ENST00000366733.1_Missense_Mutation_p.R24H|MRPL55_ENST00000336520.3_Missense_Mutation_p.R24H|MRPL55_ENST00000366739.1_Missense_Mutation_p.R24H|MRPL55_ENST00000366742.1_Missense_Mutation_p.R24H|MRPL55_ENST00000366736.1_Missense_Mutation_p.R24H|MRPL55_ENST00000366744.1_Missense_Mutation_p.R24H|MRPL55_ENST00000348259.5_Missense_Mutation_p.R24H|MRPL55_ENST00000366735.1_Missense_Mutation_p.R24H|MRPL55_ENST00000465397.1_5'UTR|MRPL55_ENST00000366741.1_Missense_Mutation_p.R24H			Q7Z7F7	RM55_HUMAN	mitochondrial ribosomal protein L55	24					translation	mitochondrial large ribosomal subunit	structural constituent of ribosome			central_nervous_system(1)|lung(4)	5		Prostate(94;0.0405)				GTGCAGGCGGCGGAGTGCAGG	0.632000													17	37					0	0	1	0	0
ADCY9	115	broad.mit.edu	37	16	4016694	4016694	+	Silent	SNP	C	C	T			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr16:4016694C>T	ENST00000294016.3	-	11	3682	c.3144G>A	c.(3142-3144)caG>caA	p.Q1048Q		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	1048					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TGGAGTAGGTCTGGGACACCT	0.577000													47	84					0	0	1	0	0
CKM	1158	broad.mit.edu	37	19	45811670	45811670	+	Missense_Mutation	SNP	C	C	A			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr19:45811670C>A	ENST00000221476.3	-	6	948	c.774G>T	c.(772-774)caG>caT	p.Q258H		NM_001824.4	NP_001815.2	P06732	KCRM_HUMAN	creatine kinase, muscle	258	Phosphagen kinase C-terminal.				creatine metabolic process	cytosol	ATP binding|creatine kinase activity			cervix(1)|endometrium(1)|large_intestine(8)|lung(3)|prostate(2)|skin(2)	17		Ovarian(192;0.0336)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07)	Creatine(DB00148)	CACCCACCTTCTGCAGCCCTA	0.612000													14	29					1.3612e-06	1.39101e-06	1	1	0
KATNA1	11104	broad.mit.edu	37	6	149953933	149953933	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr6:149953933C>G	ENST00000367411.2	-	3	540	c.282G>C	c.(280-282)gaG>gaC	p.E94D	KATNA1_ENST00000335647.5_Missense_Mutation_p.E94D|KATNA1_ENST00000335643.8_Missense_Mutation_p.E94D	NM_007044.3	NP_008975.1	O75449	KTNA1_HUMAN	katanin p60 (ATPase containing) subunit A 1	94	Interaction with microtubule.				cell division|interphase of mitotic cell cycle|mitosis	microtubule|microtubule organizing center|spindle pole	ATP binding|microtubule binding|microtubule-severing ATPase activity|protein heterodimerization activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	12		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173)		AGACTTCTCCCTCAGAAGCTG	0.413000													19	44					0	0	1	0	0
HERC1	8925	broad.mit.edu	37	15	63948408	63948408	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr15:63948408C>T	ENST00000443617.2	-	49	9836	c.9749G>A	c.(9748-9750)cGa>cAa	p.R3250Q		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	3250					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						ATGCCCACCTCGTGATCGTTC	0.542000													13	12					0	0	1	0	0
SOGA3	387104	broad.mit.edu	37	6	127796769	127796769	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr6:127796769G>A	ENST00000556132.1	-	6	3266	c.2402C>T	c.(2401-2403)gCg>gTg	p.A801V	SOGA3_ENST00000525778.1_Missense_Mutation_p.A801V|SOGA3_ENST00000465909.2_Missense_Mutation_p.A801V|SOGA3_ENST00000474293.2_5'UTR|SOGA3_ENST00000481848.2_Missense_Mutation_p.A801V|SOGA3_ENST00000368268.2_Missense_Mutation_p.A801V	NM_001012279.2	NP_001012279.1	Q5TF21	CF174_HUMAN	SOGA family member 3	801						integral to membrane											GGGCCCGGGCGCCGGGTAGAA	0.701000													4	54					0	0	1	0	0
CARF	79800	broad.mit.edu	37	2	203818841	203818841	+	Missense_Mutation	SNP	A	A	G	rs34601113		TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr2:203818841A>G	ENST00000402905.3	+	6	862	c.541A>G	c.(541-543)Aaa>Gaa	p.K181E	CARF_ENST00000471271.1_3'UTR|CARF_ENST00000545253.1_Missense_Mutation_p.K93E|CARF_ENST00000414439.1_Missense_Mutation_p.K79E|WDR12_ENST00000477723.1_Intron|CARF_ENST00000444724.1_Missense_Mutation_p.K181E|CARF_ENST00000428585.1_Missense_Mutation_p.K105E|CARF_ENST00000434998.1_Missense_Mutation_p.K79E|CARF_ENST00000545262.1_Missense_Mutation_p.K105E|CARF_ENST00000438828.2_Missense_Mutation_p.K181E|CARF_ENST00000320443.8_Missense_Mutation_p.K181E|CARF_ENST00000456821.2_Missense_Mutation_p.K169E	NM_001104586.1|NM_001282910.1|NM_001282911.1|NM_001282912.1	NP_001098056.1|NP_001269839.1|NP_001269840.1|NP_001269841.1			calcium responsive transcription factor																		CCCATTGCCCAAAAAGTCAGT	0.403000													22	31					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237550662	237550662	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr1:237550662G>A	ENST00000366574.2	+	9	975	c.658G>A	c.(658-660)Gga>Aga	p.G220R	RYR2_ENST00000542537.1_Missense_Mutation_p.G204R|RYR2_ENST00000360064.6_Missense_Mutation_p.G218R	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	220					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AATCAGCTCAGGAAGTGAGGC	0.493000													26	37					0	0	1	0	0
FBXW7	55294	broad.mit.edu	37	4	153247367	153247367	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr4:153247367G>C	ENST00000281708.4	-	10	2664	c.1435C>G	c.(1435-1437)Cga>Gga	p.R479G	FBXW7_ENST00000296555.5_Missense_Mutation_p.R361G|FBXW7_ENST00000263981.5_Missense_Mutation_p.R399G|FBXW7_ENST00000603548.1_Missense_Mutation_p.R479G|FBXW7_ENST00000603841.1_Missense_Mutation_p.R479G|FBXW7_ENST00000393956.3_Missense_Mutation_p.R303G	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	479					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.R479*(4)|p.R479G(3)|p.R240*(2)|p.R479R(2)|p.R399*(2)|p.R399R(1)|p.?(1)|p.R361R(1)|p.R361*(1)|p.R240R(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				GTGGCATCTCGAGAACCGCTA	0.398000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								21	27					0	0	1	0	0
POLG	5428	broad.mit.edu	37	15	89865993	89865993	+	Missense_Mutation	SNP	C	C	A			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr15:89865993C>A	ENST00000268124.5	-	14	2739	c.2406G>T	c.(2404-2406)agG>agT	p.R802S	POLG_ENST00000442287.2_Missense_Mutation_p.R802S	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	802					base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			TATGGGCGTTCCTCCAGAAAG	0.587000								DNA polymerases (catalytic subunits)					62	115					7.05995e-25	7.66196e-25	1	1	0
OR4D6	219983	broad.mit.edu	37	11	59224794	59224794	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr11:59224794G>A	ENST00000300127.2	+	1	384	c.361G>A	c.(361-363)Gac>Aac	p.D121N		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						GATGGCCTATGACAGATACCT	0.493000													53	91					0	0	1	0	0
HIST1H4E	8367	broad.mit.edu	37	6	26204978	26204978	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr6:26204978C>T	ENST00000360441.4	+	1	121	c.106C>T	c.(106-108)Cgg>Tgg	p.R36W		NM_003545.3	NP_003536.1	P62805	H4_HUMAN	histone cluster 1, H4e	36					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	18		all_hematologic(11;0.196)				GCCTGCCATCCGGCGCCTTGC	0.577000													40	38					0	0	1	0	0
MYO5A	4644	broad.mit.edu	37	15	52620103	52620103	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr15:52620103C>G	ENST00000399231.3	-	35	4824	c.4581G>C	c.(4579-4581)caG>caC	p.Q1527H	MYO5A_ENST00000553916.1_Missense_Mutation_p.Q1525H|MYO5A_ENST00000356338.6_Missense_Mutation_p.Q1500H|MYO5A_ENST00000399233.2_Missense_Mutation_p.Q1524H|MYO5A_ENST00000358212.6_Missense_Mutation_p.Q1552H	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1527					actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		ACCTTACTTTCTGATCATCAT	0.383000													5	233					0	0	1	0	0
KIF26B	55083	broad.mit.edu	37	1	245850755	245850757	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr1:245850755_245850757delCAG	ENST00000366518.4	+	9	3431_3433	c.3327_3329delCAG	c.(3325-3330)ctcagc>ctc	p.S1113del	KIF26B_ENST00000407071.2_In_Frame_Del_p.S1494del			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1494					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			GAGACAGGCTCAGCAGCAGCAGC	0.635													2	4	---	---	---	---					
TMPRSS11D	9407	broad.mit.edu	37	4	68691511	68691511	+	Frame_Shift_Del	DEL	C	C	-			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr4:68691511delC	ENST00000283916.6	-	9	1132	c.1034delG	c.(1033-1035)ggafs	p.G345fs	TMPRSS11D_ENST00000545541.1_Frame_Shift_Del_p.G228fs|UBA6-AS1_ENST00000500538.2_RNA	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN	transmembrane protease, serine 11D	345	Peptidase S1.				proteolysis|respiratory gaseous exchange	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	p.G345E(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						CAAGATGGCTCCATTATAACT	0.438													28	44	---	---	---	---					
PRPF4B	8899	broad.mit.edu	37	6	4032655	4032675	+	In_Frame_Del	DEL	TCCAAAGACAGAAGGTCACGG	TCCAAAGACAGAAGGTCACGG	-			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr6:4032655_4032675delTCCAAAGACAGAAGGTCACGG	ENST00000337659.6	+	2	1004_1024	c.904_924delTCCAAAGACAGAAGGTCACGG	c.(904-924)tccaaagacagaaggtcacggdel	p.SKDRRSR302del	PRPF4B_ENST00000538861.1_In_Frame_Del_p.SKDRRSR288del	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B	302	Arg/Lys-rich (basic).					catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity	p.R308Q(1)		breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				AAGAGGTAAATCCAAAGACAGAAGGTCACGGTCCAAAGAGA	0.362													20	71	---	---	---	---					
SPTAN1	6709	broad.mit.edu	37	9	131340512	131340512	+	Frame_Shift_Del	DEL	C	C	-			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr9:131340512delC	ENST00000358161.5	+	9	1322	c.1209delC	c.(1207-1209)cacfs	p.H403fs	SPTAN1_ENST00000372739.3_Frame_Shift_Del_p.H403fs|SPTAN1_ENST00000372731.4_Frame_Shift_Del_p.H403fs			Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	403					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						TAGATAGACACCAAGAGCACA	0.488													33	9	---	---	---	---					
ZDHHC16	84287	broad.mit.edu	37	10	99215380	99215381	+	Frame_Shift_Ins	INS	-	-	T			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr10:99215380_99215381insT	ENST00000370846.4	+	6	740_741	c.578_579insT	c.(577-582)tctaaafs	p.K194fs	ZDHHC16_ENST00000353979.3_Intron|ZDHHC16_ENST00000370842.2_Intron|ZDHHC16_ENST00000370854.3_Intron|ZDHHC16_ENST00000393760.1_Intron|ZDHHC16_ENST00000495735.1_Intron|ZDHHC16_ENST00000345745.5_Intron|ZDHHC16_ENST00000352634.4_Intron			Q969W1	ZDH16_HUMAN	zinc finger, DHHC-type containing 16	0					apoptosis	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|zinc ion binding			kidney(4)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	14		Colorectal(252;0.0846)		Epithelial(162;5.81e-10)|all cancers(201;4.19e-08)		CCAGCCCTCTCTAAACTACCCA	0.490													80	132	---	---	---	---					
USP28	57646	broad.mit.edu	37	11	113712400	113712400	+	Frame_Shift_Del	DEL	C	C	-			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr11:113712400delC	ENST00000003302.4	-	4	427	c.359delG	c.(358-360)ggafs	p.G120fs	USP28_ENST00000542033.1_5'UTR|USP28_ENST00000545540.1_5'UTR|USP28_ENST00000260188.5_Frame_Shift_Del_p.G120fs|USP28_ENST00000537706.1_Frame_Shift_Del_p.G120fs	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	120					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		AAGATCTCTTCCATCAGCTTG	0.388													44	30	---	---	---	---					
AQP6	363	broad.mit.edu	37	12	50368123	50368124	+	Frame_Shift_Ins	INS	-	-	A			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr12:50368123_50368124insA	ENST00000315520.5	+	2	756_757	c.419_420insA	c.(418-423)tcaactfs	p.T141fs	AQP6_ENST00000551733.1_5'UTR	NM_001652.3	NP_001643.2	Q13520	AQP6_HUMAN	aquaporin 6, kidney specific	141					excretion|odontogenesis	integral to plasma membrane|transport vesicle membrane	anion channel activity|water channel activity			endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(2)	13						AACAGTGTCTCAACTGGCCAGG	0.639											OREG0021809	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	71	71	---	---	---	---					
CABP1	9478	broad.mit.edu	37	12	121079103	121079103	+	Frame_Shift_Del	DEL	C	C	-			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr12:121079103delC	ENST00000316803.3	+	1	749	c.615delC	c.(613-615)ctcfs	p.L205fs	RP11-728G15.1_ENST00000540369.1_RNA	NM_001033677.1	NP_001028849.1	Q9NZU7	CABP1_HUMAN	calcium binding protein 1	205						cell cortex|cell junction|Golgi apparatus|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane	calcium ion binding|calcium-dependent protein binding|enzyme inhibitor activity|protein binding			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					ACCCGTTCCTCCACCGGCTGC	0.771													2	4	---	---	---	---					
DOPEY2	9980	broad.mit.edu	37	21	37612067	37612067	+	Frame_Shift_Del	DEL	T	T	-			TCGA-4Z-AA7O-01A-31D-A391-08	TCGA-4Z-AA7O-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7629a69-ed35-496d-9849-442b33294e82	0bd16baf-475c-4fc3-b4a8-6260bdd12cee	g.chr21:37612067delT	ENST00000399151.3	+	18	2966	c.2881delT	c.(2881-2883)ttgfs	p.L961fs		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	961					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CTGCAGGTCCTTGTTTGTCGT	0.667													2	4	---	---	---	---