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
BLMH	642	broad.mit.edu	37	17	28618498	28618498	+	Silent	SNP	C	C	T			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr17:28618498C>T	ENST00000261714.6	-	2	216	c.42G>A	c.(40-42)ctG>ctA	p.L14L	BLMH_ENST00000394819.3_5'UTR	NM_000386.3	NP_000377.1	Q13867	BLMH_HUMAN	bleomycin hydrolase	14					proteolysis	cytoplasm|nucleus	aminopeptidase activity|carboxypeptidase activity|cysteine-type endopeptidase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|stomach(1)	13						GTTTCTGTATCAGAGCAGCTA	0.567000													49	61					0	0	1	0	0
TTC16	158248	broad.mit.edu	37	9	130493404	130493404	+	Missense_Mutation	SNP	G	G	A			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr9:130493404G>A	ENST00000373289.3	+	14	2422	c.2342G>A	c.(2341-2343)cGg>cAg	p.R781Q	TTC16_ENST00000489226.1_3'UTR	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	781							binding			central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						GCTCGTGGCCGGAGCTGGAGA	0.622000													3	18					0	0	1	0	0
HIST1H2AE	3012	broad.mit.edu	37	6	26217210	26217210	+	Missense_Mutation	SNP	G	G	A			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr6:26217210G>A	ENST00000303910.2	+	1	46	c.8G>A	c.(7-9)gGa>gAa	p.G3E		NM_021052.2	NP_066390.1	P04908	H2A1B_HUMAN	histone cluster 1, H2ae	3					nucleosome assembly	nucleosome|nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	10		all_hematologic(11;0.196)				ACTATGTCTGGACGTGGAAAG	0.502000													32	40					0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136566217	136566217	+	Missense_Mutation	SNP	C	C	T			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr2:136566217C>T	ENST00000264162.2	-	8	3710	c.3700G>A	c.(3700-3702)Gag>Aag	p.E1234K		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1234	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		TCCTCCTCCTCAGCCATCTCC	0.577000													78	90					0	0	1	0	0
EHHADH	1962	broad.mit.edu	37	3	184947316	184947316	+	Missense_Mutation	SNP	G	G	C			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr3:184947316G>C	ENST00000231887.3	-	4	442	c.367C>G	c.(367-369)Cca>Gca	p.P123A	EHHADH_ENST00000456310.1_Missense_Mutation_p.P27A|EHHADH_ENST00000475987.1_5'UTR	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	123	Enoyl-CoA hydratase / isomerase.					peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		NADH(DB00157)	GTAACTTCTGGTAAGCCAACT	0.473000													31	22					0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22154433	22154433	+	Missense_Mutation	SNP	G	G	C			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr19:22154433G>C	ENST00000397126.4	-	4	3551	c.3403C>G	c.(3403-3405)Cat>Gat	p.H1135D	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TCTCCAGTATGAATTACCTTA	0.368000													53	65					0	0	1	0	0
EIF2S2	8894	broad.mit.edu	37	20	32693183	32693183	+	Missense_Mutation	SNP	T	T	C			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr20:32693183T>C	ENST00000374980.2	-	2	405	c.184A>G	c.(184-186)Agg>Ggg	p.R62G		NM_003908.3	NP_003899.2	P20042	IF2B_HUMAN	eukaryotic translation initiation factor 2, subunit 2 beta, 38kDa	62						cytosol|eukaryotic translation initiation factor 2 complex	metal ion binding|protein binding|translation initiation factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	11						CCTTTTTTCCTAGTGTCCTCT	0.483000													5	566					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13714730	13714730	+	Splice_Site	SNP	C	C	A			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr5:13714730C>A	ENST00000265104.4	-	75	13014		c.e75-1			NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5						microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CAGGCAAACTCTGAACAACAG	0.488000									Kartagener syndrome				14	23					4.3838e-07	4.49977e-07	1	1	0
MFHAS1	9258	broad.mit.edu	37	8	8747707	8747707	+	Silent	SNP	G	G	A			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr8:8747707G>A	ENST00000276282.6	-	1	3448	c.2862C>T	c.(2860-2862)acC>acT	p.T954T		NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	954										endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		CTTGCCATGCGGTCCATATAT	0.522000													48	73					0	0	1	0	0
MASP1	5648	broad.mit.edu	37	3	186954356	186954356	+	Splice_Site	SNP	C	C	G			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr3:186954356C>G	ENST00000296280.6	-	11	1529		c.e11-1		MASP1_ENST00000392472.2_Splice_Site|MASP1_ENST00000495249.1_Intron|MASP1_ENST00000337774.5_Intron	NM_139125.3	NP_624302.1	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)						complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		TGACCACACTCTGTAAGGAGA	0.552000													50	185					0	0	1	0	0
CEP170	9859	broad.mit.edu	37	1	243349126	243349126	+	Missense_Mutation	SNP	C	C	G			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr1:243349126C>G	ENST00000366542.1	-	10	1572	c.1521G>C	c.(1519-1521)gaG>gaC	p.E507D	CEP170_ENST00000366543.1_Intron|CEP170_ENST00000366544.1_Intron	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	507						centriole|microtubule|spindle				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			TGTTGGGATTCTCTAACTCAA	0.348000													66	76					0	0	1	0	0
MLXIP	22877	broad.mit.edu	37	12	122618381	122618381	+	Missense_Mutation	SNP	C	C	T			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr12:122618381C>T	ENST00000319080.6	+	9	1711	c.1579C>T	c.(1579-1581)Cct>Tct	p.P527S	MLXIP_ENST00000377037.2_Missense_Mutation_p.P117S|MLXIP_ENST00000538698.1_Missense_Mutation_p.P134S			Q9HAP2	MLXIP_HUMAN	MLX interacting protein	527					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		GGCACTGTCTCCTGTCACCCG	0.627000													14	22					0	0	1	0	0
PARN	5073	broad.mit.edu	37	16	14540841	14540841	+	Missense_Mutation	SNP	C	C	T			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr16:14540841C>T	ENST00000437198.2	-	23	1909	c.1768G>A	c.(1768-1770)Gag>Aag	p.E590K	PARN_ENST00000341484.7_Missense_Mutation_p.E529K|PARN_ENST00000420015.2_Missense_Mutation_p.E544K|PARN_ENST00000539279.1_Missense_Mutation_p.E415K	NM_001134477.2|NM_002582.3	NP_001127949.1|NP_002573.1	O95453	PARN_HUMAN	poly(A)-specific ribonuclease	590					female gamete generation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|RNA modification	cytosol|nucleolus	metal ion binding|mRNA 3'-UTR binding|nucleotide binding|poly(A)-specific ribonuclease activity|protein binding	p.E590Q(2)		cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|urinary_tract(1)	21						TGCTCAAGCTCAGTGTCGGAA	0.493000													49	72					0	0	1	0	0
C19orf26	255057	broad.mit.edu	37	19	1231186	1231186	+	Silent	SNP	G	G	A			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr19:1231186G>A	ENST00000590083.1	-	9	1360	c.1068C>T	c.(1066-1068)ttC>ttT	p.F356F	C19orf26_ENST00000215376.6_Silent_p.F350F|C19orf26_ENST00000382477.2_Silent_p.F376F			Q8N350	DOS_HUMAN	chromosome 19 open reading frame 26	376						integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|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)		TGTACTGGATGAAGTCCTCCT	0.692000										HNSCC(14;0.022)			41	53					0	0	1	0	0
MPO	4353	broad.mit.edu	37	17	56348162	56348162	+	Missense_Mutation	SNP	G	G	A			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr17:56348162G>A	ENST00000340482.3	-	11	2365	c.2189C>T	c.(2188-2190)tCa>tTa	p.S730L	MPO_ENST00000225275.3_Missense_Mutation_p.S698L			P05164	PERM_HUMAN	myeloperoxidase	698					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	CCGGGGCAATGAGATCTGGGC	0.547000													24	25					0	0	1	0	0
SUPT16H	11198	broad.mit.edu	37	14	21825383	21825383	+	Missense_Mutation	SNP	G	G	C			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr14:21825383G>C	ENST00000216297.2	-	22	2971	c.2633C>G	c.(2632-2634)tCt>tGt	p.S878C		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	878					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		GGGGTCAAGAGAGGCTACAGG	0.433000													19	42					0	0	1	0	0
KMT2B	9757	broad.mit.edu	37	19	36211785	36211785	+	Silent	SNP	C	C	T			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr19:36211785C>T	ENST00000222270.7	+	3	1536	c.1536C>T	c.(1534-1536)acC>acT	p.T512T	WBP7_ENST00000341701.1_Silent_p.T512T|KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000420124.1_Silent_p.T512T	NM_014727.1	NP_055542.1																					ACAGTCCCACCGTGGCCCCCA	0.652000													7	13					0	0	1	0	0
HIST1H2AM	8336	broad.mit.edu	37	6	27860798	27860798	+	Missense_Mutation	SNP	C	C	G			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr6:27860798C>G	ENST00000359611.2	-	1	165	c.130G>C	c.(130-132)Gtc>Ctc	p.V44L	HIST1H3J_ENST00000479986.1_5'UTR	NM_003514.2	NP_003505.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2am	44					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)	14						CCGGCCCCGACCCGCTCAGCG	0.657000													49	98					0	0	1	0	0
SESN2	83667	broad.mit.edu	37	1	28598203	28598203	+	Missense_Mutation	SNP	G	G	C			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr1:28598203G>C	ENST00000253063.3	+	3	496	c.175G>C	c.(175-177)Gag>Cag	p.E59Q		NM_031459.4	NP_113647.1	P58004	SESN2_HUMAN	sestrin 2	59					cell cycle arrest	cytoplasm|nucleus				cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	27		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)		GGAGGGGGCTGAGAGCCTCGA	0.587000													22	40					0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63416882	63416882	+	Missense_Mutation	SNP	C	C	G			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr14:63416882C>G	ENST00000322893.7	-	7	1606	c.1338G>C	c.(1336-1338)aaG>aaC	p.K446N	KCNH5_ENST00000394968.1_Missense_Mutation_p.K388N|KCNH5_ENST00000394964.2_Missense_Mutation_p.K388N|KCNH5_ENST00000420622.2_Missense_Mutation_p.K446N	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	446					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CCGAAAACATCTTCTCCACAT	0.383000													67	88					0	0	1	0	0
R3HCC1L	27291	broad.mit.edu	37	10	99969386	99969386	+	Silent	SNP	G	G	A			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr10:99969386G>A	ENST00000298999.3	+	5	1818	c.1515G>A	c.(1513-1515)gtG>gtA	p.V505V	R3HCC1L_ENST00000370586.2_Intron|R3HCC1L_ENST00000370584.3_Silent_p.V505V|R3HCC1L_ENST00000314594.5_5'UTR	NM_014472.4	NP_055287.4			R3H domain and coiled-coil containing 1-like																		ACAGTGCCGTGGGCATTGACC	0.408000													55	58					0	0	1	0	0
ITGB3	3690	broad.mit.edu	37	17	45364505	45364505	+	Missense_Mutation	SNP	G	G	C			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr17:45364505G>C	ENST00000559488.1	+	6	863	c.847G>C	c.(847-849)Gca>Cca	p.A283P	ITGB3_ENST00000560629.1_Missense_Mutation_p.S271T|ITGB3_ENST00000571680.1_Missense_Mutation_p.A283P|ITGB3_ENST00000435993.2_Missense_Mutation_p.A236P	NM_000212.2	NP_000203.2	P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	283	VWFA.				activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Tirofiban(DB00775)	GACTCATATAGCATTGGACGG	0.463000													66	75					0	0	1	0	0
RP11-383M4.6	0	broad.mit.edu	37	9	84547987	84547987	+	RNA	SNP	G	G	A			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr9:84547987G>A	ENST00000585776.1	-	0	1039				SPATA31D4_ENST00000341875.4_RNA																							AAGTCTCATAGACGAAGCACT	0.458000													18	35					0	0	1	0	0
RTEL1	51750	broad.mit.edu	37	20	62326478	62326478	+	Silent	SNP	C	C	T			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr20:62326478C>T	ENST00000318100.4	+	33	4230	c.3403C>T	c.(3403-3405)Ctg>Ttg	p.L1135L	RTEL1_ENST00000370003.1_Silent_p.L380L|RTEL1_ENST00000370018.3_Silent_p.L1135L|RTEL1_ENST00000360203.5_Silent_p.L1135L|RTEL1-TNFRSF6B_ENST00000482936.1_Silent_p.L1135L|RTEL1_ENST00000508582.2_Silent_p.L1159L			Q9NZ71	RTEL1_HUMAN	regulator of telomere elongation helicase 1	1135					DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			GTGCACAGACCTGACCGGCCG	0.642000													22	31					0	0	1	0	0
KDM5C	8242	broad.mit.edu	37	X	53223011	53223011	+	Missense_Mutation	SNP	C	C	T			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chrX:53223011C>T	ENST00000452825.3	-	22	4392	c.3860G>A	c.(3859-3861)gGa>gAa	p.G1287E	KDM5C_ENST00000404049.3_Missense_Mutation_p.G1353E|KDM5C_ENST00000375379.3_Missense_Mutation_p.G1354E|KDM5C_ENST00000375383.3_Missense_Mutation_p.G1313E|KDM5C_ENST00000375401.3_Missense_Mutation_p.G1354E	NM_001146702.1	NP_001140174.1	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	1354					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						CACACTGTCTCCATTCTCCAG	0.567000			"""N, F, S"""		clear cell renal carcinoma								14	5					0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240370281	240370281	+	Silent	SNP	C	C	T			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr1:240370281C>T	ENST00000319653.9	+	5	2399	c.2169C>T	c.(2167-2169)ctC>ctT	p.L723L		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	723					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			ATGTCTGTCTCGAAGCTCTCA	0.532000													22	29					0	0	1	0	0
ZNF136	7695	broad.mit.edu	37	19	12298256	12298256	+	Missense_Mutation	SNP	G	G	A			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr19:12298256G>A	ENST00000343979.4	+	4	1203	c.1063G>A	c.(1063-1065)Gaa>Aaa	p.E355K	ZNF136_ENST00000398616.2_Missense_Mutation_p.E289K	NM_003437.3	NP_003428.1	P52737	ZN136_HUMAN	zinc finger protein 136	355					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	18						TCAAATACATGAAAGGACTCA	0.403000													47	73					0	0	1	0	0
GLUD2	2747	broad.mit.edu	37	X	120181742	120181742	+	Missense_Mutation	SNP	G	G	C			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chrX:120181742G>C	ENST00000328078.1	+	1	281	c.204G>C	c.(202-204)aaG>aaC	p.K68N		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	68					glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38					L-Glutamic Acid(DB00142)|NADH(DB00157)	ACTTCTTCAAGATGGTGGAGG	0.672000													61	12					0	0	1	0	0
SLC24A4	123041	broad.mit.edu	37	14	92915514	92915514	+	Missense_Mutation	SNP	C	C	A			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr14:92915514C>A	ENST00000532405.1	+	10	1060	c.834C>A	c.(832-834)ttC>ttA	p.F278L	SLC24A4_ENST00000393265.2_Missense_Mutation_p.F214L|SLC24A4_ENST00000351924.5_Intron|SLC24A4_ENST00000298877.1_Missense_Mutation_p.F261L|SLC24A4_ENST00000531433.1_Intron			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	278						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		GTAATGATTTCTATGACGGTA	0.502000													24	47					1.66031e-10	1.71329e-10	1	1	0
NIPBL	25836	broad.mit.edu	37	5	37044527	37044527	+	Nonsense_Mutation	SNP	G	G	T			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr5:37044527G>T	ENST00000282516.8	+	35	6686	c.6187G>T	c.(6187-6189)Gaa>Taa	p.E2063*	NIPBL_ENST00000448238.2_Nonsense_Mutation_p.E2063*	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2063					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			GCATCCAAGTGAAACTTTTCT	0.348000													41	59					6.5261e-18	6.7704e-18	1	1	0
ZSCAN2	54993	broad.mit.edu	37	15	85164921	85164921	+	Missense_Mutation	SNP	G	G	C			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr15:85164921G>C	ENST00000448803.2	+	3	1787	c.1495G>C	c.(1495-1497)Gag>Cag	p.E499Q	ZSCAN2_ENST00000538076.1_Intron|ZSCAN2_ENST00000546148.1_Missense_Mutation_p.E499Q|ZSCAN2_ENST00000541040.1_Intron|ZSCAN2_ENST00000327179.6_Missense_Mutation_p.E498Q|ZSCAN2_ENST00000358472.3_Missense_Mutation_p.E349Q|ZSCAN2_ENST00000485222.2_Intron	NM_181877.3	NP_870992.2	Q7Z7L9	ZSCA2_HUMAN	zinc finger and SCAN domain containing 2	499					cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1)	19				UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)		CCACACGGGAGAGAAACCCTA	0.592000													6	136					0	0	1	0	0
SEMA4C	54910	broad.mit.edu	37	2	97531637	97531637	+	Missense_Mutation	SNP	C	C	G			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr2:97531637C>G	ENST00000305476.5	-	4	420	c.288G>C	c.(286-288)aaG>aaC	p.K96N		NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C	96	Dominant negative effect on myogenic differentiation (By similarity).|Sema.				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						TACACTCAGTCTTCTTCTCCA	0.597000													27	54					0	0	1	0	0
OR5A1	219982	broad.mit.edu	37	11	59211536	59211536	+	Missense_Mutation	SNP	G	G	C			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr11:59211536G>C	ENST00000302030.2	+	1	920	c.895G>C	c.(895-897)Gag>Cag	p.E299Q		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	299					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						GAGGAACAAAGAGATCAAGGA	0.433000													80	131					0	0	1	0	0
MTSS1L	92154	broad.mit.edu	37	16	70713746	70713746	+	Nonsense_Mutation	SNP	C	C	A			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr16:70713746C>A	ENST00000338779.6	-	5	599	c.325G>T	c.(325-327)Gag>Tag	p.E109*		NM_138383.2	NP_612392.1	Q765P7	MTSSL_HUMAN	metastasis suppressor 1-like	109	IMD.				filopodium assembly|signal transduction		actin binding|cytoskeletal adaptor activity|SH3 domain binding			breast(1)|central_nervous_system(2)|endometrium(1)|liver(1)|lung(1)|skin(1)	7						TCGATGCGCTCCTGCAGCGGG	0.736000													10	20					9.31168e-06	9.50772e-06	1	1	0
PLEC	5339	broad.mit.edu	37	8	144995369	144995369	+	Missense_Mutation	SNP	C	C	T			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr8:144995369C>T	ENST00000322810.4	-	32	9200	c.9031G>A	c.(9031-9033)Gac>Aac	p.D3011N	PLEC_ENST00000354958.2_Missense_Mutation_p.D2852N|PLEC_ENST00000345136.3_Missense_Mutation_p.D2874N|PLEC_ENST00000527096.1_Missense_Mutation_p.D2897N|PLEC_ENST00000354589.3_Missense_Mutation_p.D2874N|PLEC_ENST00000398774.2_Missense_Mutation_p.D2842N|PLEC_ENST00000356346.3_Missense_Mutation_p.D2860N|PLEC_ENST00000436759.2_Missense_Mutation_p.D2901N|PLEC_ENST00000357649.2_Missense_Mutation_p.D2878N	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3011	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GTCTCGGGGTCCTCCACGCAG	0.647000													53	88					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151873545	151873545	+	Nonsense_Mutation	SNP	G	G	C			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr7:151873545G>C	ENST00000355193.2	-	38	9211	c.8993C>G	c.(8992-8994)tCa>tGa	p.S2998*	KMT2C_ENST00000262189.6_Nonsense_Mutation_p.S2998*					lysine (K)-specific methyltransferase 2C																		GTTAACTGTTGATTGACCTGG	0.468000													114	26					0	0	1	0	0
TRAV9-2	28677	broad.mit.edu	37	14	22409823	22409823	+	RNA	SNP	G	G	C			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr14:22409823G>C	ENST00000390441.2	+	0	369																											GTCAGACTCAGCGGTGTACTT	0.537000													16	71					0	0	1	0	0
ODF3L1	161753	broad.mit.edu	37	15	76019645	76019645	+	Missense_Mutation	SNP	G	G	A			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr15:76019645G>A	ENST00000332145.2	+	4	812	c.589G>A	c.(589-591)Gga>Aga	p.G197R		NM_175881.3	NP_787077.1	Q8IXM7	OD3L1_HUMAN	outer dense fiber of sperm tails 3-like 1	197										kidney(1)|lung(1)	2						GGATGTGGCAGGAGGCCCTGG	0.612000													29	41					0	0	1	0	0
GAL3ST4	79690	broad.mit.edu	37	7	99757693	99757693	+	Missense_Mutation	SNP	C	C	T			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr7:99757693C>T	ENST00000360039.4	-	4	1711	c.1319G>A	c.(1318-1320)cGg>cAg	p.R440Q	GAL3ST4_ENST00000426974.2_Missense_Mutation_p.R378Q|GAL3ST4_ENST00000411994.1_3'UTR|GAL3ST4_ENST00000413800.1_Missense_Mutation_p.R440Q|GAL3ST4_ENST00000423751.1_3'UTR	NM_024637.4	NP_078913.3	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	440					cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CAATCCACTCCGAAGTATATA	0.557000													35	64					0	0	1	0	0
HECTD1	25831	broad.mit.edu	37	14	31644226	31644226	+	Missense_Mutation	SNP	G	G	A			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr14:31644226G>A	ENST00000399332.1	-	4	982	c.494C>T	c.(493-495)tCt>tTt	p.S165F	HECTD1_ENST00000553700.1_Missense_Mutation_p.S165F	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	165					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity	p.S165C(1)		breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		AGCCATAGCAGAGTGCAAGGT	0.418000													56	71					0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73675676	73675676	+	Silent	SNP	C	C	T			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr2:73675676C>T	ENST00000264448.6	+	8	2130	c.2019C>T	c.(2017-2019)gaC>gaT	p.D673D	ALMS1_ENST00000409009.1_Silent_p.D631D|ALMS1_ENST00000377715.1_Silent_p.D673D	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	673	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						ATGTAGAGGACCTCCTCTTTT	0.507000													59	87					0	0	1	0	0
PRKCA	5578	broad.mit.edu	37	17	64684434	64684434	+	Missense_Mutation	SNP	C	C	T			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr17:64684434C>T	ENST00000413366.3	+	7	727	c.701C>T	c.(700-702)tCa>tTa	p.S234L		NM_002737.2	NP_002728.1	P17252	KPCA_HUMAN	protein kinase C, alpha	234	C2.				activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Phosphatidylserine(DB00144)|Vitamin E(DB00163)	TTGAAACCTTCAGACAAAGAC	0.448000													40	62					0	0	1	0	0
MLXIP	22877	broad.mit.edu	37	12	122617948	122617948	+	Silent	SNP	C	C	T			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr12:122617948C>T	ENST00000319080.6	+	9	1278	c.1146C>T	c.(1144-1146)ctC>ctT	p.L382L	MLXIP_ENST00000538698.1_5'UTR			Q9HAP2	MLXIP_HUMAN	MLX interacting protein	382	Transactivation domain.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		CTGACAGCCTCATCGCGCCCC	0.607000													48	69					0	0	1	0	0
OTOA	146183	broad.mit.edu	37	16	21728274	21728274	+	Missense_Mutation	SNP	G	G	T			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr16:21728274G>T	ENST00000388958.3	+	14	1536	c.1535G>T	c.(1534-1536)gGg>gTg	p.G512V	OTOA_ENST00000286149.4_Missense_Mutation_p.G526V|OTOA_ENST00000388956.4_Missense_Mutation_p.G433V|OTOA_ENST00000388957.3_Missense_Mutation_p.G188V	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN	otoancorin	526					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		GAGATACAAGGGGCTTTCTTT	0.453000													95	132					8.13309e-56	8.66934e-56	1	1	0
KDR	3791	broad.mit.edu	37	4	55984812	55984812	+	Missense_Mutation	SNP	C	C	T			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr4:55984812C>T	ENST00000263923.4	-	3	612	c.317G>A	c.(316-318)cGg>cAg	p.R106Q		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	106	Ig-like C2-type 1.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	GTCAGTTTCCCGGTAGAAGCA	0.438000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			4	123					0	0	1	0	0
MTCH2	23788	broad.mit.edu	37	11	47660546	47660546	+	Missense_Mutation	SNP	A	A	G			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr11:47660546A>G	ENST00000302503.3	-	2	302	c.145T>C	c.(145-147)Tgt>Cgt	p.C49R	MTCH2_ENST00000542981.1_5'UTR	NM_014342.3	NP_055157.1	Q9Y6C9	MTCH2_HUMAN	mitochondrial carrier 2	49					transport	integral to membrane|mitochondrial inner membrane				endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11						GGAAGCTGACACACTTGCCGC	0.383000													43	56					0	0	1	0	0
COL25A1	84570	broad.mit.edu	37	4	110223071	110223071	+	Silent	SNP	G	G	A			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr4:110223071G>A	ENST00000399132.1	-	2	635	c.105C>T	c.(103-105)gcC>gcT	p.A35A	COL25A1_ENST00000399126.1_Silent_p.A35A|COL25A1_ENST00000399127.1_Silent_p.A35A	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	35						collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		CCGCCAGGACGGCACACGGGG	0.662000													38	60					0	0	1	0	0
MGAT1	4245	broad.mit.edu	37	5	180219180	180219180	+	Silent	SNP	G	G	A			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr5:180219180G>A	ENST00000446023.2	-	3	1542	c.792C>T	c.(790-792)ttC>ttT	p.F264F	MGAT1_ENST00000307826.4_Silent_p.F264F|MGAT1_ENST00000393340.3_Silent_p.F264F|MGAT1_ENST00000333055.3_Silent_p.F264F|MGAT1_ENST00000427865.2_Silent_p.F264F	NM_001114617.1|NM_001114618.1	NP_001108089.1|NP_001108090.1	P26572	MGAT1_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	264					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|metal ion binding			endometrium(1)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	13	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCAGGCCAGGGAAAAAGTCGG	0.667000													39	46					0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56459540	56459540	+	Missense_Mutation	SNP	G	G	A	rs149738419		TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr19:56459540G>A	ENST00000291971.3	+	1	343	c.272G>A	c.(271-273)cGt>cAt	p.R91H	NLRP8_ENST00000590542.1_Missense_Mutation_p.R91H	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	91	DAPIN.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TTGATAGAGCGTTTCCCTGGA	0.512000													24	50					0	0	1	0	0
AGGF1	55109	broad.mit.edu	37	5	76332495	76332495	+	Nonsense_Mutation	SNP	G	G	T			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr5:76332495G>T	ENST00000312916.7	+	4	1013	c.631G>T	c.(631-633)Gaa>Taa	p.E211*		NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN	angiogenic factor with G patch and FHA domains 1	211					angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|RNA processing|vasculogenesis	extracellular region|perinuclear region of cytoplasm	eukaryotic cell surface binding|nucleic acid binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		TAGTTATGATGAAAATACTGG	0.388000													43	94					8.16277e-20	8.55988e-20	1	1	0
DIP2C	22982	broad.mit.edu	37	10	436214	436214	+	Missense_Mutation	SNP	G	G	A			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr10:436214G>A	ENST00000280886.6	-	12	1571	c.1484C>T	c.(1483-1485)gCg>gTg	p.A495V	DIP2C_ENST00000381496.3_Missense_Mutation_p.A388V	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	495						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CTCAATATACGCAGTGTCGTT	0.517000													15	98					0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121474984	121474984	+	Silent	SNP	C	C	T			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr11:121474984C>T	ENST00000260197.7	+	33	4731	c.4602C>T	c.(4600-4602)tgC>tgT	p.C1534C	SORL1_ENST00000525532.1_Silent_p.C478C|SORL1_ENST00000534286.1_Silent_p.C444C|SORL1_ENST00000532694.1_Silent_p.C380C|SORL1_ENST00000527934.1_Silent_p.C149C	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1534	LDL-receptor class A 11.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CGGAGCGCTGCGACGGCTTCC	0.647000													55	8					0	0	1	0	0
ANKRD36BP2	645784	broad.mit.edu	37	2	89100786	89100786	+	RNA	SNP	A	A	T			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr2:89100786A>T	ENST00000393525.3	+	0	1260																											TGAAAGAAAAAGAACGCCAAT	0.313000													30	51					0	0	1	0	0
PROSER2	254427	broad.mit.edu	37	10	11911548	11911548	+	Missense_Mutation	SNP	G	G	A			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr10:11911548G>A	ENST00000277570.5	+	4	605	c.451G>A	c.(451-453)Gac>Aac	p.D151N	PROSER2-AS1_ENST00000445498.1_RNA|PROSER2-AS1_ENST00000453242.1_RNA	NM_153256.3	NP_694988.3			proline and serine-rich protein 2																		TCCACCTCCAGACCCCCCGGC	0.692000													15	15					0	0	1	0	0
KCNV2	169522	broad.mit.edu	37	9	2718032	2718032	+	Missense_Mutation	SNP	C	C	T			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr9:2718032C>T	ENST00000382082.3	+	1	531	c.293C>T	c.(292-294)aCg>aTg	p.T98M		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	98						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		CTGCTGTCCACGCTGAATGTG	0.682000													12	14					0	0	1	0	0
CAPRIN2	65981	broad.mit.edu	37	12	30884369	30884369	+	Missense_Mutation	SNP	G	G	A			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr12:30884369G>A	ENST00000251071.5	-	6	1718	c.968C>T	c.(967-969)gCc>gTc	p.A323V	CAPRIN2_ENST00000538387.1_Intron|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.A323V|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.A323V|CAPRIN2_ENST00000308433.5_5'UTR|CAPRIN2_ENST00000395805.2_Missense_Mutation_p.A323V	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	Q6IMN6	CAPR2_HUMAN	caprin family member 2	323					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					CTTTTCCTTGGCATTTTTGGG	0.363000													38	25					0	0	1	0	0
RANBP6	26953	broad.mit.edu	37	9	6012686	6012686	+	Silent	SNP	G	G	A			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr9:6012686G>A	ENST00000259569.5	-	1	2932	c.2922C>T	c.(2920-2922)gtC>gtT	p.V974V		NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	974					protein transport	cytoplasm|nucleus	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		CTGTAGCAATGACATTTTTTT	0.363000													37	71					0	0	1	0	0
PAMR1	25891	broad.mit.edu	37	11	35515735	35515735	+	Silent	SNP	G	G	A			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr11:35515735G>A	ENST00000378880.2	-	2	604	c.159C>T	c.(157-159)tgC>tgT	p.C53C	PAMR1_ENST00000378878.3_Silent_p.C53C|PAMR1_ENST00000534803.1_5'UTR|PAMR1_ENST00000278360.3_Silent_p.C53C|PAMR1_ENST00000532848.1_Silent_p.C13C	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	53	Cys-rich.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						CGGGGCAGACGCACTCAATCT	0.507000													5	145					0	0	1	0	0
ZNF761	388561	broad.mit.edu	37	19	53960233	53960233	+	RNA	SNP	G	G	A			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr19:53960233G>A	ENST00000454407.1	+	0	2925							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		ATACTGGAGAGAAACCATAAA	0.403000													7	16					0	0	1	0	0
TLR5	7100	broad.mit.edu	37	1	223284385	223284385	+	Silent	SNP	G	G	A			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr1:223284385G>A	ENST00000540964.1	-	4	2450	c.1989C>T	c.(1987-1989)ttC>ttT	p.F663F	TLR5_ENST00000342210.6_Silent_p.F663F			O60602	TLR5_HUMAN	toll-like receptor 5	663			Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1).		cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		AGAAGCCCCGGAACTTTGTGA	0.443000													5	75					0	0	1	0	0
PCDHGA7	56108	broad.mit.edu	37	5	140762697	140762697	+	Silent	SNP	G	G	C			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr5:140762697G>C	ENST00000518325.1	+	1	231	c.231G>C	c.(229-231)ctG>ctC	p.L77L	PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018920.2	NP_061743.1														NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTTCGCCCTGAACCAGCGCA	0.622000													61	82					0	0	1	0	0
DHCR7	1717	broad.mit.edu	37	11	71146832	71146832	+	Silent	SNP	G	G	A			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr11:71146832G>A	ENST00000355527.3	-	9	1293	c.1017C>T	c.(1015-1017)ggC>ggT	p.G339G	DHCR7_ENST00000407721.2_Silent_p.G339G	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	339					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19					NADH(DB00157)	GCAGCAGGACGCCCACGGCGT	0.677000									Smith-Lemli-Opitz syndrome				22	36					0	0	1	0	0
SLIT1	6585	broad.mit.edu	37	10	98760970	98760970	+	Missense_Mutation	SNP	G	G	A	rs147599893		TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr10:98760970G>A	ENST00000266058.4	-	37	4749	c.4504C>T	c.(4504-4506)Cgg>Tgg	p.R1502W	SLIT1_ENST00000371070.4_Silent_p.F1460F|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	1502	CTCK.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		CGCTTCAGCCGAAGGCCCTGG	0.647000													5	155					0	0	1	0	0
NUDT14	256281	broad.mit.edu	37	14	105643040	105643040	+	Missense_Mutation	SNP	G	G	A			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr14:105643040G>A	ENST00000392568.2	-	4	352	c.259C>T	c.(259-261)Cgg>Tgg	p.R87W	RP11-44N21.4_ENST00000548203.1_RNA	NM_177533.4	NP_803877.2	O95848	NUD14_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 14	87	Nudix hydrolase.					cytoplasm	metal ion binding|protein binding|UDP-sugar diphosphatase activity	p.R87G(1)		cervix(2)|endometrium(1)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	14		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		TGTAGCTCCCGAGGCCCGTCC	0.667000										HNSCC(42;0.11)			47	48					0	0	1	0	0
PPEF1	5475	broad.mit.edu	37	X	18748409	18748409	+	Missense_Mutation	SNP	G	G	A			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chrX:18748409G>A	ENST00000361511.4	+	5	651	c.157G>A	c.(157-159)Gaa>Aaa	p.E53K	PPEF1_ENST00000471570.1_3'UTR|PPEF1_ENST00000349874.5_Missense_Mutation_p.E53K|PPEF1_ENST00000544635.1_Intron|PPEF1_ENST00000543630.1_Missense_Mutation_p.E53K|PPEF1_ENST00000359763.6_Missense_Mutation_p.E53K	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1	53					detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					ATATGCTGATGAACAAGGCCA	0.428000													101	11					0	0	1	0	0
SDK2	54549	broad.mit.edu	37	17	71419642	71419642	+	Missense_Mutation	SNP	C	C	G			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr17:71419642C>G	ENST00000392650.3	-	14	1780	c.1780G>C	c.(1780-1782)Gag>Cag	p.E594Q	SDK2_ENST00000388726.3_Missense_Mutation_p.E594Q	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	594	Fibronectin type-III 1.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						ACTGGGTGCTCGGGCGCGTGG	0.612000													15	5					0	0	1	0	0
GPR45	11250	broad.mit.edu	37	2	105859151	105859151	+	Missense_Mutation	SNP	G	G	A			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr2:105859151G>A	ENST00000258456.1	+	1	952	c.836G>A	c.(835-837)tGc>tAc	p.C279Y		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	279						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						TTCTCCCTCTGCTGGCTGCCC	0.612000													23	241					0	0	1	0	0
ACE	1636	broad.mit.edu	37	17	61556405	61556405	+	Missense_Mutation	SNP	C	C	G			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr17:61556405C>G	ENST00000290866.4	+	3	479	c.455C>G	c.(454-456)tCc>tGc	p.S152C	ACE_ENST00000538928.1_Missense_Mutation_p.S152C|ACE_ENST00000584529.1_3'UTR|ACE_ENST00000428043.1_Missense_Mutation_p.S152C	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	152	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	AGGATCTACTCCACCGCCAAG	0.637000											OREG0024639	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	17					0	0	1	0	0
PIDD	55367	broad.mit.edu	37	11	800350	800350	+	Nonsense_Mutation	SNP	G	G	A			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr11:800350G>A	ENST00000347755.5	-	13	2284	c.2143C>T	c.(2143-2145)Cag>Tag	p.Q715*	PIDD_ENST00000411829.2_Intron	NM_145886.3|NM_145887.3	NP_665893.2|NP_665894.2	Q9HB75	PIDD_HUMAN	p53-induced death domain protein	715					apoptosis|signal transduction	cytoplasm|nucleus	death receptor binding										CGCACAGCCTGAGCCTCCCGG	0.642000													23	44					0	0	1	0	0
CP	1356	broad.mit.edu	37	3	148903144	148903144	+	Missense_Mutation	SNP	C	C	G			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr3:148903144C>G	ENST00000264613.6	-	12	2429	c.2167G>C	c.(2167-2169)Gag>Cag	p.E723Q	CP_ENST00000462336.1_5'UTR	NM_000096.3	NP_000087.1	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	723					cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	GTGGAATCCTCAGACTGCCGC	0.478000													83	300					0	0	1	0	0
NPIPB4	440345	broad.mit.edu	37	16	21847243	21847243	+	Nonsense_Mutation	SNP	G	G	C			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr16:21847243G>C	ENST00000451409.1	-	9	2617	c.1790C>G	c.(1789-1791)tCa>tGa	p.S597*	NPIPB4_ENST00000415645.2_Intron|NPIPB4_ENST00000357370.5_Nonsense_Mutation_p.S616*|NPIPB4_ENST00000537951.1_Intron					nuclear pore complex interacting protein family, member B4																		CAGGTGTCTTGATATTATCAT	0.597000													44	55					0	0	1	0	0
FCRL3	115352	broad.mit.edu	37	1	157667192	157667192	+	Silent	SNP	C	C	A			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr1:157667192C>A	ENST00000368184.3	-	6	873	c.582G>T	c.(580-582)ctG>ctT	p.L194L	FCRL3_ENST00000473231.1_5'UTR|FCRL3_ENST00000368186.5_Silent_p.L194L	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	194	Ig-like C2-type 3.					integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					AGCTGGCTCTCAGCACAGGAT	0.527000													19	48					0.000175454	0.00017821	1	1	0
DAXX	1616	broad.mit.edu	37	6	33288805	33288805	+	Silent	SNP	G	G	A	rs140033328		TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr6:33288805G>A	ENST00000374542.5	-	3	951	c.747C>T	c.(745-747)acC>acT	p.T249T	DAXX_ENST00000266000.6_Silent_p.T249T|DAXX_ENST00000414083.2_Silent_p.T174T|DAXX_ENST00000477162.1_Intron	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	249					activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						TGACACGGCCGGTCAGTGAAG	0.582000			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM								35	59					0	0	1	0	0
SLC34A3	142680	broad.mit.edu	37	9	140127073	140127073	+	Silent	SNP	C	C	G			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr9:140127073C>G	ENST00000538474.1	+	4	446	c.222C>G	c.(220-222)ctC>ctG	p.L74L	SLC34A3_ENST00000361134.2_Silent_p.L74L	NM_001177316.1|NM_001177317.1	NP_001170787.1|NP_001170788.1	Q8N130	NPT2C_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 3	74					cellular phosphate ion homeostasis	apical plasma membrane|integral to membrane	sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		GCAGCGTCCTCAAGGCCTGCG	0.692000													74	75					0	0	1	0	0
RGPD8	727851	broad.mit.edu	37	2	113127775	113127775	+	Missense_Mutation	SNP	G	G	C			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr2:113127775G>C	ENST00000302558.3	-	23	5469	c.5278C>G	c.(5278-5280)Cct>Gct	p.P1760A	RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	NM_001164463.1	NP_001157935.1			RANBP2-like and GRIP domain containing 8									p.P1760A(12)		endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						GAACGGGAAGGATTTTCTTCC	0.308000													4	107					0	0	1	0	0
PCNX	22990	broad.mit.edu	37	14	71445160	71445160	+	Missense_Mutation	SNP	T	T	G			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr14:71445160T>G	ENST00000304743.2	+	6	2552	c.2106T>G	c.(2104-2106)aaT>aaG	p.N702K	PCNX_ENST00000238570.5_Missense_Mutation_p.N702K|PCNX_ENST00000439984.3_Missense_Mutation_p.N702K	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	702						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)		CATGTTTGAATGACTCAAACA	0.473000													62	72					0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98515050	98515050	+	Silent	SNP	G	G	A			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr7:98515050G>A	ENST00000359863.4	+	20	2579	c.2370G>A	c.(2368-2370)ctG>ctA	p.L790L	TRRAP_ENST00000446306.3_Silent_p.L789L|TRRAP_ENST00000355540.3_Silent_p.L790L	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	790					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CCCTAGGGCTGAACATGCTTC	0.582000													106	15					0	0	1	0	0
ESYT3	83850	broad.mit.edu	37	3	138178050	138178050	+	Silent	SNP	C	C	T			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr3:138178050C>T	ENST00000389567.4	+	5	789	c.603C>T	c.(601-603)atC>atT	p.I201I	ESYT3_ENST00000289135.4_Silent_p.I201I	NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	201						integral to membrane|plasma membrane				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						ACTGTGAGATCAGTGTGGAGC	0.602000													78	253					0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98606091	98606091	+	Silent	SNP	C	C	T			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr7:98606091C>T	ENST00000359863.4	+	69	11012	c.10803C>T	c.(10801-10803)tgC>tgT	p.C3601C	TRRAP_ENST00000446306.3_Silent_p.C3590C|TRRAP_ENST00000355540.3_Silent_p.C3572C	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3601	PI3K/PI4K.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AGCAGCGCTGCGCCAAGAAGG	0.617000													54	81					0	0	1	0	0
PIK3AP1	118788	broad.mit.edu	37	10	98386580	98386580	+	Silent	SNP	G	G	A			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr10:98386580G>A	ENST00000339364.5	-	10	1673	c.1554C>T	c.(1552-1554)gaC>gaT	p.D518D	PIK3AP1_ENST00000371110.2_Silent_p.D340D|PIK3AP1_ENST00000371109.3_Silent_p.D117D	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	518						cytoplasm|plasma membrane				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		AGGCCTCATCGTCATCCACCG	0.552000													41	66					0	0	1	0	0
SUGP1	57794	broad.mit.edu	37	19	19414202	19414202	+	Missense_Mutation	SNP	C	C	T			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr19:19414202C>T	ENST00000247001.5	-	6	1065	c.718G>A	c.(718-720)Gag>Aag	p.E240K	SUGP1_ENST00000585763.1_5'UTR	NM_172231.3	NP_757386.2	Q8IWZ8	SUGP1_HUMAN	SURP and G patch domain containing 1	240					nuclear mRNA splicing, via spliceosome	nucleoplasm|spliceosomal complex	RNA binding			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	22						TTTCTTATCTCAGCCACCTTC	0.507000													64	75					0	0	1	0	0
TMEM178A	130733	broad.mit.edu	37	2	39934241	39934241	+	Silent	SNP	C	C	T			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr2:39934241C>T	ENST00000281961.2	+	3	623	c.567C>T	c.(565-567)ctC>ctT	p.L189L	TMEM178A_ENST00000482239.1_3'UTR	NM_152390.2	NP_689603.2			transmembrane protein 178A																		CCGTCCTTCTCTGCGGCTGCA	0.512000													39	38					0	0	1	0	0
ODF2	4957	broad.mit.edu	37	9	131246304	131246304	+	Missense_Mutation	SNP	G	G	A			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr9:131246304G>A	ENST00000303890.5	+	13	1588	c.1003G>A	c.(1003-1005)Gag>Aag	p.E335K	ODF2_ENST00000372791.3_Missense_Mutation_p.E340K|ODF2_ENST00000372796.4_Missense_Mutation_p.E359K|ODF2_ENST00000546203.1_Missense_Mutation_p.E340K|ODF2_ENST00000372807.5_Missense_Mutation_p.E354K|ODF2_ENST00000393533.2_Missense_Mutation_p.E359K|ODF2_ENST00000444119.2_Missense_Mutation_p.E335K|ODF2_ENST00000448249.3_Missense_Mutation_p.E278K|ODF2_ENST00000372814.3_Missense_Mutation_p.E403K|ODF2_ENST00000434106.2_Missense_Mutation_p.E359K|ODF2_ENST00000351030.3_Missense_Mutation_p.E354K	NM_002540.4	NP_002531.3	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	359					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						CAAAGAGGCTGAGAACAGTCG	0.557000													42	42					0	0	1	0	0
ATP10B	23120	broad.mit.edu	37	5	160025845	160025845	+	Missense_Mutation	SNP	C	C	T			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr5:160025845C>T	ENST00000327245.5	-	22	4342	c.3496G>A	c.(3496-3498)Gac>Aac	p.D1166N		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1166					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATGTCTTTGTCAAGGACTCCA	0.483000													160	178					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179414043	179414043	+	Missense_Mutation	SNP	G	G	C			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr2:179414043G>C	ENST00000589042.1	-	339	92534	c.92310C>G	c.(92308-92310)atC>atG	p.I30770M	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.I21705M|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I21830M|TTN_ENST00000342992.6_Missense_Mutation_p.I28202M|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I21897M|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.I29129M|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	29129	Fibronectin type-III 124.						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)			GTCGTTTGCTGATCACTTTTA	0.428000													46	78					0	0	1	0	0
ZNF180	7733	broad.mit.edu	37	19	44981932	44981932	+	Missense_Mutation	SNP	G	G	C			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr19:44981932G>C	ENST00000221327.4	-	5	1047	c.766C>G	c.(766-768)Cag>Gag	p.Q256E	ZNF180_ENST00000592529.1_Missense_Mutation_p.Q229E|ZNF180_ENST00000391956.4_Missense_Mutation_p.Q231E	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	256					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				TGAATGCTCTGAGGGGGTTTT	0.353000													95	118					0	0	1	0	0
KANK3	256949	broad.mit.edu	37	19	8389622	8389622	+	Silent	SNP	C	C	T			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr19:8389622C>T	ENST00000330915.3	-	9	2240	c.2175G>A	c.(2173-2175)caG>caA	p.Q725Q	KANK3_ENST00000593649.1_Silent_p.Q725Q	NM_198471.2	NP_940873.2	Q6NY19	KANK3_HUMAN	KN motif and ankyrin repeat domains 3	725										breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						CATCCGCATCCTGCGCATTCA	0.657000													6	77					0	0	1	0	0
SEC24C	9632	broad.mit.edu	37	10	75530782	75530782	+	Missense_Mutation	SNP	C	C	G			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr10:75530782C>G	ENST00000339365.2	+	24	3376	c.3214C>G	c.(3214-3216)Ctg>Gtg	p.L1072V	SEC24C_ENST00000540668.1_Missense_Mutation_p.L320V|SEC24C_ENST00000535742.1_Missense_Mutation_p.L320V|SEC24C_ENST00000345254.4_Missense_Mutation_p.L1072V|SEC24C_ENST00000411652.2_Missense_Mutation_p.L953V	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	1072					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					AGACAAGAGTCTGAGTGGGGG	0.493000													90	117					0	0	1	0	0
CECR1	51816	broad.mit.edu	37	22	17688095	17688095	+	Missense_Mutation	SNP	G	G	C			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr22:17688095G>C	ENST00000399839.1	-	3	678	c.408C>G	c.(406-408)atC>atG	p.I136M	CECR1_ENST00000262607.3_Missense_Mutation_p.I136M|CECR1_ENST00000399837.2_Missense_Mutation_p.I136M|CECR1_ENST00000449907.2_Missense_Mutation_p.I94M			Q9NZK5	CECR1_HUMAN	cat eye syndrome chromosome region, candidate 1	136	PRB domain.				adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	extracellular space|Golgi apparatus	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				GGGTGAAACAGATGTGGCAGT	0.527000													5	167					0	0	1	0	0
PROSER2	254427	broad.mit.edu	37	10	11911722	11911722	+	Missense_Mutation	SNP	G	G	A			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr10:11911722G>A	ENST00000277570.5	+	4	779	c.625G>A	c.(625-627)Gaa>Aaa	p.E209K	PROSER2-AS1_ENST00000445498.1_RNA|PROSER2_ENST00000379200.1_Missense_Mutation_p.E13K|PROSER2-AS1_ENST00000453242.1_RNA	NM_153256.3	NP_694988.3			proline and serine-rich protein 2																		GGCGGGGAACGAAGCCCTCTC	0.741000													3	5					0	0	1	0	0
SLC34A3	142680	broad.mit.edu	37	9	140127032	140127032	+	Missense_Mutation	SNP	C	C	T			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr9:140127032C>T	ENST00000538474.1	+	4	405	c.181C>T	c.(181-183)Cgc>Tgc	p.R61C	SLC34A3_ENST00000361134.2_Missense_Mutation_p.R61C	NM_001177316.1|NM_001177317.1	NP_001170787.1|NP_001170788.1	Q8N130	NPT2C_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 3	61					cellular phosphate ion homeostasis	apical plasma membrane|integral to membrane	sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		CTCAGAGCTCCGCGTGGCCGG	0.682000													38	50					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13727702	13727702	+	Missense_Mutation	SNP	G	G	A			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr5:13727702G>A	ENST00000265104.4	-	70	12051	c.11947C>T	c.(11947-11949)Ctt>Ttt	p.L3983F		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3983					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.L3983F(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GCATTTGGAAGAGGTTCCTCC	0.413000									Kartagener syndrome				44	52					0	0	1	0	0
PRPF3	9129	broad.mit.edu	37	1	150312892	150312892	+	Missense_Mutation	SNP	G	G	C			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr1:150312892G>C	ENST00000324862.6	+	9	1386	c.1221G>C	c.(1219-1221)aaG>aaC	p.K407N	PRPF3_ENST00000467329.1_3'UTR|PRPF3_ENST00000414970.2_Missense_Mutation_p.K358N|PRPF3_ENST00000543398.1_Missense_Mutation_p.E271Q	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	pre-mRNA processing factor 3	407					nuclear mRNA splicing, via spliceosome	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding			breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		AAAATCCCAAGAGAGAAGATT	0.378000													26	47					0	0	1	0	0
ZNF292	23036	broad.mit.edu	37	6	87928350	87928350	+	Missense_Mutation	SNP	G	G	A			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr6:87928350G>A	ENST00000369577.3	+	4	482	c.439G>A	c.(439-441)Gaa>Aaa	p.E147K	ZNF292_ENST00000339907.4_Missense_Mutation_p.E147K|ZNF292_ENST00000369578.2_3'UTR	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	147					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		TGGCAGCTGTGAATTGCATTT	0.383000													3	1					0	0	1	0	0
CCDC88A	55704	broad.mit.edu	37	2	55601988	55601988	+	Missense_Mutation	SNP	A	A	G			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr2:55601988A>G	ENST00000436346.1	-	4	1146	c.305T>C	c.(304-306)tTg>tCg	p.L102S	CCDC88A_ENST00000413716.2_Missense_Mutation_p.L102S|CCDC88A_ENST00000336838.6_Missense_Mutation_p.L102S|CCDC88A_ENST00000263630.8_Missense_Mutation_p.L102S	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	102					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						GACATTTGGCAACGACATCAT	0.308000													67	125					0	0	1	0	0
ZNF385B	151126	broad.mit.edu	37	2	180311336	180311336	+	Missense_Mutation	SNP	C	C	T			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr2:180311336C>T	ENST00000410066.1	-	7	1435	c.832G>A	c.(832-834)Gaa>Aaa	p.E278K	ZNF385B_ENST00000466398.1_5'UTR|ZNF385B_ENST00000409692.1_Missense_Mutation_p.E176K|ZNF385B_ENST00000409343.1_Missense_Mutation_p.E202K|ZNF385B_ENST00000336917.5_Missense_Mutation_p.E176K	NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B	278						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)			GCTTTTTCTTCTTCTGATTCA	0.463000													46	60					0	0	1	0	0
HSP90AB2P	391634	broad.mit.edu	37	4	13339234	13339234	+	RNA	SNP	G	G	A			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr4:13339234G>A	ENST00000602906.1	+	0	862																				kidney(3)|lung(1)	4						AACTTTATCCGTGGTGTGGTT	0.418000													16	19					0	0	1	0	0
SLC12A9	56996	broad.mit.edu	37	7	100463561	100463561	+	Missense_Mutation	SNP	G	G	A			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr7:100463561G>A	ENST00000354161.3	+	14	2204	c.2079G>A	c.(2077-2079)atG>atA	p.M693I		NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	693						integral to membrane|plasma membrane	cation:chloride symporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					CCCTCAAGATGAACAAGAATG	0.692000													106	13					0	0	1	0	0
PTGIS	5740	broad.mit.edu	37	20	48166709	48166709	+	Missense_Mutation	SNP	G	G	A			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr20:48166709G>A	ENST00000244043.4	-	2	121	c.92C>T	c.(91-93)cCc>cTc	p.P31L	PTGIS_ENST00000478971.1_5'UTR	NM_000961.3	NP_000952.1	Q16647	PTGIS_HUMAN	prostaglandin I2 (prostacyclin) synthase	31					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Phenylbutazone(DB00812)	CAGGTCCAGGGGAGGCTCACC	0.527000													43	54					0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39263204	39263204	+	Missense_Mutation	SNP	G	G	A			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr13:39263204G>A	ENST00000280481.7	+	1	1939	c.1723G>A	c.(1723-1725)Gaa>Aaa	p.E575K		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	575					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GGCAGAGGGTGAAACAGTGCC	0.537000													22	43					0	0	1	0	0
SLC6A12	6539	broad.mit.edu	37	12	302467	302467	+	Silent	SNP	G	G	A			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr12:302467G>A	ENST00000428720.1	-	14	2249	c.1506C>T	c.(1504-1506)ctC>ctT	p.L502L	SLC6A12_ENST00000536824.1_Silent_p.L502L|RP11-283I3.1_ENST00000544067.1_RNA|SLC6A12_ENST00000424061.2_Silent_p.L502L|SLC6A12_ENST00000397296.2_Silent_p.L502L|SLC6A12_ENST00000359674.4_Silent_p.L502L	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 12	502					cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			GGGTCAGGAAGAGCCAGGAGA	0.592000													31	11					0	0	1	0	0
SKA2	348235	broad.mit.edu	37	17	57196839	57196839	+	Silent	SNP	G	G	C			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr17:57196839G>C	ENST00000330137.7	-	3	243	c.138C>G	c.(136-138)ctC>ctG	p.L46L	SKA2_ENST00000580541.1_Intron|SKA2_ENST00000581068.1_Intron|SKA2_ENST00000583380.1_Silent_p.L46L|SKA2_ENST00000437036.2_Intron|SKA2_ENST00000578105.1_Silent_p.L17L|SKA2_ENST00000583927.1_Intron	NM_182620.3	NP_872426.1	Q8WVK7	SKA2_HUMAN	spindle and kinetochore associated complex subunit 2	46					cell division|chromosome segregation|mitotic anaphase|mitotic prometaphase|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytosol|spindle microtubule	microtubule binding			lung(4)	4						ATTCCTTTAAGAGTGTAACTG	0.323000													4	143					0	0	1	0	0
PHF6	84295	broad.mit.edu	37	X	133527593	133527593	+	Silent	SNP	G	G	A			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chrX:133527593G>A	ENST00000332070.3	+	4	505	c.303G>A	c.(301-303)agG>agA	p.R101R	PHF6_ENST00000370799.1_Silent_p.R101R|PHF6_ENST00000370803.3_Silent_p.R101R|PHF6_ENST00000416404.2_Silent_p.R67R|PHF6_ENST00000370800.4_Silent_p.R101R|PHF6_ENST00000394292.1_Silent_p.R101R	NM_032458.2	NP_115834.1	Q8IWS0	PHF6_HUMAN	PHD finger protein 6	101					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(88)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)|urinary_tract(1)	103	Acute lymphoblastic leukemia(192;0.000127)					CATGTCACAGGACATACCACT	0.343000			"""F, N, Splice, Mis"""		ETP ALL								86	6					0	0	1	0	0
ZNF671	79891	broad.mit.edu	37	19	58232845	58232845	+	Silent	SNP	G	G	A			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr19:58232845G>A	ENST00000317398.6	-	4	704	c.609C>T	c.(607-609)ttC>ttT	p.F203F	AC003006.7_ENST00000599221.1_Intron|ZNF671_ENST00000335820.3_Silent_p.F105F	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	203					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		AGTCTGTACTGAACCAGAATT	0.493000													61	61					0	0	1	0	0
CLK2	1196	broad.mit.edu	37	1	155233062	155233062	+	Missense_Mutation	SNP	G	G	A			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr1:155233062G>A	ENST00000368361.4	-	13	1762	c.1447C>T	c.(1447-1449)Cgg>Tgg	p.R483W	CLK2_ENST00000536801.1_Missense_Mutation_p.R483W|CLK2_ENST00000497188.1_5'UTR|CLK2_ENST00000355560.4_Missense_Mutation_p.R481W|CLK2_ENST00000361168.5_Missense_Mutation_p.R482W			P49760	CLK2_HUMAN	CDC-like kinase 2	483						nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GGCTCAGCCCGAAGGCGGGCG	0.572000								Other conserved DNA damage response genes					26	36					0	0	1	0	0
CEP72	55722	broad.mit.edu	37	5	635560	635560	+	Silent	SNP	G	G	A			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr5:635560G>A	ENST00000264935.5	+	6	855	c.765G>A	c.(763-765)acG>acA	p.T255T	CEP72_ENST00000444221.1_3'UTR	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	255					G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			GCCGTGAGACGAGGAGGAGCA	0.542000													17	25					0	0	1	0	0
ITGA8	8516	broad.mit.edu	37	10	15688893	15688893	+	Missense_Mutation	SNP	C	C	T	rs142735096		TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr10:15688893C>T	ENST00000378076.3	-	12	1512	c.1159G>A	c.(1159-1161)Ggt>Agt	p.G387S		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	387					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						ATAGCACTACCGAATCTCCCA	0.478000													24	52					0	0	1	0	0
PCDHA1	56147	broad.mit.edu	37	5	140168205	140168205	+	Missense_Mutation	SNP	C	C	A			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr5:140168205C>A	ENST00000504120.2	+	1	2330	c.2330C>A	c.(2329-2331)tCt>tAt	p.S777Y	PCDHA1_ENST00000378133.3_Missense_Mutation_p.S777Y|PCDHA1_ENST00000394633.3_Intron	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAGGCCTATCTCCAAGTCTT	0.498000													4	82					0.150653	0.150653	1	1	0
AHNAK	79026	broad.mit.edu	37	11	62284339	62284339	+	Silent	SNP	C	C	G			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr11:62284339C>G	ENST00000378024.4	-	5	17824	c.17550G>C	c.(17548-17550)ggG>ggC	p.G5850G	AHNAK_ENST00000525875.1_Intron|AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5850					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ACACCCCACTCCCCTGTAACT	0.532000													91	127					0	0	1	0	0
C8orf34	116328	broad.mit.edu	37	8	69633616	69633616	+	Missense_Mutation	SNP	G	G	C			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr8:69633616G>C	ENST00000337103.4	+	9	2607	c.1015G>C	c.(1015-1017)Gaa>Caa	p.E339Q	C8orf34_ENST00000325233.3_Missense_Mutation_p.E108Q|C8orf34_ENST00000539993.1_Missense_Mutation_p.E364Q|C8orf34_ENST00000518698.1_Missense_Mutation_p.E450Q			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	364					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			TGGGACTGAAGAAGCACTAAT	0.294000													20	39					0	0	1	0	0
EPHA2	1969	broad.mit.edu	37	1	16464522	16464522	+	Missense_Mutation	SNP	C	C	T			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr1:16464522C>T	ENST00000358432.5	-	5	1292	c.1138G>A	c.(1138-1140)Gag>Aag	p.E380K		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	380	Fibronectin type-III 1.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	ACACTGGCCTCACACGGCCCG	0.657000													31	21					0	0	1	0	0
HDAC5	10014	broad.mit.edu	37	17	42170772	42170772	+	Nonsense_Mutation	SNP	G	G	A			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr17:42170772G>A	ENST00000225983.6	-	5	762	c.439C>T	c.(439-441)Cag>Tag	p.Q147*	HDAC5_ENST00000586802.1_Nonsense_Mutation_p.Q146*|HDAC5_ENST00000393622.2_Nonsense_Mutation_p.Q146*|HDAC5_ENST00000336057.5_Nonsense_Mutation_p.Q146*			Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	146				R -> G (in Ref. 6; BX458255).	B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		tgctcccgctgccgctgctgc	0.642000													11	16					0	0	1	0	0
SEC24B	10427	broad.mit.edu	37	4	110394259	110394259	+	Nonsense_Mutation	SNP	C	C	G			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr4:110394259C>G	ENST00000265175.5	+	3	1032	c.977C>G	c.(976-978)tCa>tGa	p.S326*	SEC24B_ENST00000399100.2_Nonsense_Mutation_p.S326*|SEC24B_ENST00000504968.2_Nonsense_Mutation_p.S357*	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	326					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		GGATCCTCATCAACAAGAACA	0.438000													31	59					0	0	1	0	0
SLC23A1	9963	broad.mit.edu	37	5	138715753	138715753	+	Silent	SNP	C	C	T			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr5:138715753C>T	ENST00000353963.3	-	7	710	c.672G>A	c.(670-672)ctG>ctA	p.L224L	SLC23A1_ENST00000348729.3_Silent_p.L220L	NM_152685.3	NP_689898.2	Q9UHI7	S23A1_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 1	220					brain development|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|response to toxin|transepithelial L-ascorbic acid transport|water-soluble vitamin metabolic process	apical plasma membrane|cytoplasm|integral to plasma membrane|intracellular organelle|membrane fraction	dehydroascorbic acid transporter activity|L-ascorbate:sodium symporter activity|nucleobase transmembrane transporter activity|protein binding|sodium-dependent L-ascorbate transmembrane transporter activity			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(5)|ovary(1)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		Vitamin C(DB00126)	AGAGGATGATCAGGAGAATGG	0.592000													9	12					0	0	1	0	0
HAS3	3038	broad.mit.edu	37	16	69143614	69143614	+	Missense_Mutation	SNP	C	C	T	rs146829742		TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr16:69143614C>T	ENST00000306560.1	+	2	472	c.316C>T	c.(316-318)Cgc>Tgc	p.R106C	HAS3_ENST00000569188.1_Missense_Mutation_p.R106C|HAS3_ENST00000219322.3_Missense_Mutation_p.R106C	NM_005329.2	NP_005320.2	O00219	HAS3_HUMAN	hyaluronan synthase 3	106					carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		CAAGTGCCTGCGCTCGGCCCA	0.657000													33	36					0	0	1	0	0
KPNA1	3836	broad.mit.edu	37	3	122186243	122186243	+	Missense_Mutation	SNP	C	C	T			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr3:122186243C>T	ENST00000344337.6	-	3	339	c.163G>A	c.(163-165)Gaa>Aaa	p.E55K		NM_002264.3	NP_002255.3	P52294	IMA1_HUMAN	karyopherin alpha 1 (importin alpha 5)	55	IBB.				DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|regulation of DNA recombination|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein binding|protein transporter activity			NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	21				GBM - Glioblastoma multiforme(114;0.0898)		TCTGTTTCTTCTTCTGCTGTA	0.363000													28	88					0	0	1	0	0
USP42	84132	broad.mit.edu	37	7	6194321	6194321	+	Missense_Mutation	SNP	C	C	T			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr7:6194321C>T	ENST00000306177.5	+	15	3294	c.3136C>T	c.(3136-3138)Cgg>Tgg	p.R1046W		NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	1046	Arg-rich.				cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		TGGCTGGGGCCGGGAGAAGTT	0.677000													9	7					0	0	1	0	0
TENM3	55714	broad.mit.edu	37	4	183714086	183714086	+	Missense_Mutation	SNP	C	C	G			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr4:183714086C>G	ENST00000511685.1	+	26	6384	c.6261C>G	c.(6259-6261)atC>atG	p.I2087M	TENM3_ENST00000406950.2_Missense_Mutation_p.I2087M					teneurin transmembrane protein 3																		ATGGCCGTATCAAGGAGATTC	0.378000													22	26					0	0	1	0	0
IGLV5-52	28779	broad.mit.edu	37	22	22673296	22673296	+	RNA	SNP	C	C	G			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr22:22673296C>G	ENST00000390289.2	+	0	94				LL22NC03-80A10.6_ENST00000426066.1_RNA																							TCTTCCCATTCTGCATCTTCT	0.517000													95	176					0	0	1	0	0
ZNF747	65988	broad.mit.edu	37	16	30544358	30544358	+	Missense_Mutation	SNP	G	G	A			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr16:30544358G>A	ENST00000535210.1	-	3	627	c.455C>T	c.(454-456)gCc>gTc	p.A152V	ZNF747_ENST00000568028.1_Missense_Mutation_p.A152V|ZNF747_ENST00000252799.3_3'UTR|ZNF747_ENST00000569360.1_Missense_Mutation_p.A152V|ZNF747_ENST00000395094.3_3'UTR			Q9BV97	ZN747_HUMAN	zinc finger protein 747	40					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding			kidney(1)|lung(3)|prostate(1)	5						CTCCAACCCGGCAAAGGGGGC	0.682000													4	69					0	0	1	0	0
ADIPOQ	9370	broad.mit.edu	37	3	186572383	186572383	+	Missense_Mutation	SNP	G	G	A			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr3:186572383G>A	ENST00000412955.2	+	3	766	c.625G>A	c.(625-627)Gac>Aac	p.D209N	ADIPOQ_ENST00000320741.2_Missense_Mutation_p.D209N|ADIPOQ_ENST00000444204.2_Missense_Mutation_p.D209N|ADIPOQ-AS1_ENST00000422718.1_RNA			Q15848	ADIPO_HUMAN	adiponectin, C1Q and collagen domain containing	209	C1q.				brown fat cell differentiation|cellular response to drug|cellular response to insulin stimulus|detection of oxidative stress|fatty acid beta-oxidation|generation of precursor metabolites and energy|glucose homeostasis|glucose metabolic process|low-density lipoprotein particle clearance|negative regulation of blood pressure|negative regulation of DNA biosynthetic process|negative regulation of ERK1 and ERK2 cascade|negative regulation of eukaryotic cell surface binding|negative regulation of fat cell differentiation|negative regulation of gluconeogenesis|negative regulation of granulocyte differentiation|negative regulation of heterotypic cell-cell adhesion|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of intracellular protein transport|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|negative regulation of macrophage differentiation|negative regulation of MAP kinase activity|negative regulation of phagocytosis|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein autophosphorylation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of synaptic transmission|negative regulation of transcription, DNA-dependent|negative regulation of tumor necrosis factor production|negative regulation of tumor necrosis factor-mediated signaling pathway|positive regulation of cAMP-dependent protein kinase activity|positive regulation of cholesterol efflux|positive regulation of fatty acid metabolic process|positive regulation of glucose import|positive regulation of glycogen (starch) synthase activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of metanephric glomerular visceral epithelial cell development|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myeloid cell apoptosis|positive regulation of protein kinase A signaling cascade|positive regulation of renal albumin absorption|protein homooligomerization|protein localization in plasma membrane|response to glucose stimulus|response to tumor necrosis factor	collagen|endoplasmic reticulum|extracellular space	cytokine activity|eukaryotic cell surface binding|hormone activity|protein homodimerization activity			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(2)	16	all_cancers(143;1.2e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.47e-19)	GBM - Glioblastoma multiforme(93;0.0776)		GGAGGTGGGCGACCAAGTCTG	0.507000													93	99					0	0	1	0	0
CARD6	84674	broad.mit.edu	37	5	40852293	40852293	+	Missense_Mutation	SNP	A	A	G			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr5:40852293A>G	ENST00000254691.5	+	3	1058	c.859A>G	c.(859-861)Aaa>Gaa	p.K287E	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	287					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						AAAGGTGTTTAAAGATGTCCT	0.378000													25	39					0	0	1	0	0
OLFM3	118427	broad.mit.edu	37	1	102302509	102302509	+	Missense_Mutation	SNP	T	T	C			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr1:102302509T>C	ENST00000370103.4	-	2	355	c.142A>G	c.(142-144)Aca>Gca	p.T48A	OLFM3_ENST00000536598.1_5'UTR|OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000338858.5_Missense_Mutation_p.T68A|OLFM3_ENST00000359814.3_Missense_Mutation_p.T68A	NM_058170.2	NP_477518.2	Q96PB7	NOE3_HUMAN	olfactomedin 3	68						extracellular region				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		GCAACAACTGTGCAAATGCAC	0.498000													42	51					0	0	1	0	0
LRIG2	9860	broad.mit.edu	37	1	113638916	113638916	+	Silent	SNP	G	G	A			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr1:113638916G>A	ENST00000361127.4	+	8	1218	c.1020G>A	c.(1018-1020)ttG>ttA	p.L340L		NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	340						cytoplasm|integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		TGGAGAGATTGAATTTAGGAG	0.398000													89	118					0	0	1	0	0
SPATA1	100505741	broad.mit.edu	37	1	84982061	84982061	+	RNA	SNP	C	C	T			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr1:84982061C>T	ENST00000370638.2	+	0	284									spermatogenesis associated 1											breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|prostate(1)	10				Epithelial(280;4.36e-10)|all cancers(265;7.1e-09)|BRCA - Breast invasive adenocarcinoma(282;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(397;0.00286)|KIRC - Kidney renal clear cell carcinoma(1967;0.0111)		CAATCCAAGTCGACCTTCCTC	0.274000													6	5					0	0	1	0	0
VASN	114990	broad.mit.edu	37	16	4431562	4431562	+	Silent	SNP	G	G	A			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr16:4431562G>A	ENST00000304735.3	+	2	839	c.684G>A	c.(682-684)ctG>ctA	p.L228L	CORO7_ENST00000537233.2_Intron|CORO7_ENST00000539968.1_Intron|CORO7-PAM16_ENST00000572467.1_Intron|CORO7_ENST00000423908.2_Intron|CORO7_ENST00000251166.4_Intron|CORO7_ENST00000574025.1_Intron	NM_138440.2	NP_612449.2	Q6EMK4	VASN_HUMAN	vasorin	228						extracellular region|integral to membrane				breast(1)|lung(3)|prostate(1)|skin(1)	6						ACAACCAGCTGGAGCGAGTGC	0.711000													5	10					0	0	1	0	0
PDE8A	5151	broad.mit.edu	37	15	85664082	85664082	+	Missense_Mutation	SNP	G	G	T			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr15:85664082G>T	ENST00000310298.4	+	19	2041	c.1789G>T	c.(1789-1791)Gat>Tat	p.D597Y	PDE8A_ENST00000557957.1_Missense_Mutation_p.D525Y|PDE8A_ENST00000339708.5_Missense_Mutation_p.D551Y|PDE8A_ENST00000394553.1_Missense_Mutation_p.D597Y			O60658	PDE8A_HUMAN	phosphodiesterase 8A	597	Catalytic (By similarity).				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)			CACCATTCATGATGTGGATCA	0.483000													10	193					0.000978159	0.000988348	1	1	0
TENM2	57451	broad.mit.edu	37	5	167689329	167689329	+	Silent	SNP	C	C	T			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr5:167689329C>T	ENST00000519204.1	+	28	7594	c.7476C>T	c.(7474-7476)atC>atT	p.I2492I	TENM2_ENST00000545108.1_Silent_p.I2612I|TENM2_ENST00000520394.1_Silent_p.I2374I|TENM2_ENST00000518659.1_Silent_p.I2613I|TENM2_ENST00000403607.2_Silent_p.I2437I					teneurin transmembrane protein 2																		ACTACAGCATCGAGGGCAAGG	0.597000													9	11					0	0	1	0	0
DDN	23109	broad.mit.edu	37	12	49392030	49392030	+	Missense_Mutation	SNP	C	C	G			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr12:49392030C>G	ENST00000421952.2	-	2	650	c.629G>C	c.(628-630)aGa>aCa	p.R210T		NM_015086.1	NP_055901.2	O94850	DEND_HUMAN	dendrin	210	Interaction with MAGI2.					dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						GGCAGAACCTCTCAGCAGCAG	0.726000													19	22					0	0	1	0	0
DMTN	2039	broad.mit.edu	37	8	21925182	21925182	+	Missense_Mutation	SNP	C	C	T			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr8:21925182C>T	ENST00000358242.3	+	4	731	c.238C>T	c.(238-240)Cgc>Tgc	p.R80C	DMTN_ENST00000443491.2_Missense_Mutation_p.R55C|DMTN_ENST00000415253.1_Missense_Mutation_p.R80C|DMTN_ENST00000523266.1_Missense_Mutation_p.R80C|DMTN_ENST00000265800.5_Missense_Mutation_p.R80C|DMTN_ENST00000519907.1_Missense_Mutation_p.R80C|DMTN_ENST00000381470.3_Missense_Mutation_p.R80C|DMTN_ENST00000523782.2_Missense_Mutation_p.R55C|DMTN_ENST00000432128.1_Missense_Mutation_p.R80C|DMTN_ENST00000517600.1_Missense_Mutation_p.R55C					dematin actin binding protein																		GGAGCTGCCTCGCAGCCGCGA	0.652000													24	32					0	0	1	0	0
CATSPER4	378807	broad.mit.edu	37	1	26527508	26527508	+	Missense_Mutation	SNP	A	A	T			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr1:26527508A>T	ENST00000456354.2	+	8	1242	c.1175A>T	c.(1174-1176)aAg>aTg	p.K392M		NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	392					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		AGGCAGTACAAGGAGATCCGA	0.562000													4	89					0	0	1	0	0
EFR3A	23167	broad.mit.edu	37	8	133015481	133015481	+	Splice_Site	SNP	A	A	T			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr8:133015481A>T	ENST00000254624.5	+	22	2535		c.e22-1		EFR3A_ENST00000519656.1_Splice_Site|EFR3A_ENST00000334503.4_Splice_Site|EFR3A_ENST00000521940.1_Splice_Site	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)							plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			TCTTTTTTGCAGGCAAATTTG	0.294000													4	104					0	0	1	0	0
MATN1	4146	broad.mit.edu	37	1	31194536	31194536	+	Missense_Mutation	SNP	G	G	A	rs145452251		TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr1:31194536G>A	ENST00000373765.4	-	2	192	c.157C>T	c.(157-159)Cgg>Tgg	p.R53W	MATN1-AS1_ENST00000454613.1_RNA|MATN1-AS1_ENST00000414532.2_RNA|MATN1-AS1_ENST00000414763.1_RNA	NM_002379.3	NP_002370.1	P21941	MATN1_HUMAN	matrilin 1, cartilage matrix protein	53	VWFA 1.				protein complex assembly	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649)		TCAACAGGCCGAACGCTGCGA	0.607000													70	68					0	0	1	0	0
SUSD1	64420	broad.mit.edu	37	9	114886635	114886635	+	Missense_Mutation	SNP	C	C	T			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr9:114886635C>T	ENST00000374270.3	-	6	960	c.788G>A	c.(787-789)cGc>cAc	p.R263H	SUSD1_ENST00000374264.2_Missense_Mutation_p.R263H|SUSD1_ENST00000482851.1_5'UTR|SUSD1_ENST00000374263.3_Missense_Mutation_p.R263H	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	263	Sushi 2.					integral to membrane	calcium ion binding		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						ACAGACATAGCGAGCCACACC	0.522000													5	154					0	0	1	0	0
NRAP	4892	broad.mit.edu	37	10	115389442	115389442	+	Missense_Mutation	SNP	C	C	T			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr10:115389442C>T	ENST00000369358.4	-	19	2213	c.1969G>A	c.(1969-1971)Gac>Aac	p.D657N	NRAP_ENST00000369360.3_Missense_Mutation_p.D622N|NRAP_ENST00000359988.3_Missense_Mutation_p.D649N|NRAP_ENST00000360478.3_Missense_Mutation_p.D614N			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	649						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		TAGTCCAGGTCACTGGCGAGA	0.493000													41	66					0	0	1	0	0
HSPBP1	23640	broad.mit.edu	37	19	55776691	55776691	+	Silent	SNP	G	G	C			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr19:55776691G>C	ENST00000255631.5	-	8	1270	c.960C>G	c.(958-960)ctC>ctG	p.L320L	HSPBP1_ENST00000376343.3_Silent_p.L218L|HSPBP1_ENST00000433386.2_Silent_p.L320L|HSPBP1_ENST00000587922.1_Silent_p.L320L	NM_001130106.1|NM_012267.4	NP_001123578.1|NP_036399.3	Q9NZL4	HPBP1_HUMAN	HSPA (heat shock 70kDa) binding protein, cytoplasmic cochaperone 1	323					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding		enzyme inhibitor activity|protein binding	p.L320L(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	8			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		GGTGGCGGAGGAGCTCCTCCA	0.657000													82	89					0	0	1	0	0
MSH3	4437	broad.mit.edu	37	5	80063916	80063916	+	Missense_Mutation	SNP	G	G	T			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr5:80063916G>T	ENST00000265081.6	+	14	2141	c.2061G>T	c.(2059-2061)aaG>aaT	p.K687N		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	687					maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		ATTACTTAAAGATACTCAATG	0.398000								Mismatch excision repair (MMR)					51	57					2.69953e-25	2.84625e-25	1	1	0
KMT2D	8085	broad.mit.edu	37	12	49423200	49423200	+	Nonsense_Mutation	SNP	G	G	A			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr12:49423200G>A	ENST00000301067.7	-	43	14058	c.14059C>T	c.(14059-14061)Cag>Tag	p.Q4687*		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		TCCTCAGTCTGATTGTGAGGG	0.542000													8	7					0	0	1	0	0
TRIM38	10475	broad.mit.edu	37	6	25966997	25966997	+	Missense_Mutation	SNP	G	G	A			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr6:25966997G>A	ENST00000357085.3	+	3	723	c.247G>A	c.(247-249)Gcc>Acc	p.A83T	TRIM38_ENST00000349458.3_Missense_Mutation_p.A83T	NM_006355.3	NP_006346.1	O00635	TRI38_HUMAN	tripartite motif containing 38	83					positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular	signal transducer activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	23						CCTCATTGAAGCCCTCAAAGA	0.542000													22	40					0	0	1	0	0
NFU1	27247	broad.mit.edu	37	2	69659119	69659119	+	Missense_Mutation	SNP	C	C	G			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr2:69659119C>G	ENST00000410022.2	-	2	286	c.81G>C	c.(79-81)aaG>aaC	p.K27N	NFU1_ENST00000394305.1_5'UTR|NFU1_ENST00000471185.1_5'UTR|NFU1_ENST00000303698.3_Missense_Mutation_p.K3N	NM_001002755.2	NP_001002755.1	Q9UMS0	NFU1_HUMAN	NFU1 iron-sulfur cluster scaffold homolog (S. cerevisiae)	27					iron-sulfur cluster assembly	cytosol|mitochondrion|nucleus	4 iron, 4 sulfur cluster binding|iron ion binding|protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	7						TGTATGGATTCTTCAACATAT	0.353000													19	35					0	0	1	0	0
NELFCD	51497	broad.mit.edu	37	20	57565975	57565975	+	Missense_Mutation	SNP	G	G	A			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr20:57565975G>A	ENST00000602795.1	+	8	901	c.853G>A	c.(853-855)Gcc>Acc	p.A285T	NELFCD_ENST00000344018.3_Missense_Mutation_p.A276T					negative elongation factor complex member C/D									p.A276P(1)									AGGTCATGACGCCAGTCAGAT	0.507000													4	123					0	0	1	0	0
ZNF431	170959	broad.mit.edu	37	19	21365997	21365997	+	Silent	SNP	C	C	T			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr19:21365997C>T	ENST00000311048.7	+	5	1035	c.891C>T	c.(889-891)ttC>ttT	p.F297F	ZNF431_ENST00000594425.1_Intron|ZNF431_ENST00000600692.1_3'UTR	NM_133473.2	NP_597730.2	Q8TF32	ZN431_HUMAN	zinc finger protein 431	297					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						GCAAAGCCTTCAACCGGTCCT	0.408000													6	142					0	0	1	0	0
TBX18	9096	broad.mit.edu	37	6	85446921	85446921	+	Missense_Mutation	SNP	C	C	G			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr6:85446921C>G	ENST00000369663.5	-	8	1643	c.1306G>C	c.(1306-1308)Gag>Cag	p.E436Q	TBX18_ENST00000606784.1_Intron	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	436					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		TTGTAGGTCTCTGCCAAAGAT	0.612000													35	9					0	0	1	0	0
MTF2	22823	broad.mit.edu	37	1	93575922	93575922	+	Missense_Mutation	SNP	A	A	T			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr1:93575922A>T	ENST00000370298.4	+	2	430	c.141A>T	c.(139-141)gaA>gaT	p.E47D	MTF2_ENST00000471953.1_3'UTR|MTF2_ENST00000545708.1_5'UTR|MTF2_ENST00000540243.1_Intron|MTF2_ENST00000370303.4_Missense_Mutation_p.E47D	NM_001164392.1|NM_007358.3	NP_001157864.1|NP_031384.1	Q9Y483	MTF2_HUMAN	metal response element binding transcription factor 2	47						nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(203;0.00196)|Lung NSC(277;0.00902)|Melanoma(281;0.099)|Ovarian(761;0.109)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00076)|GBM - Glioblastoma multiforme(16;0.00157)|Epithelial(280;0.0886)		GTAAATTTGAAGAGGGTCAGG	0.418000													4	161					0	0	1	0	0
SKP2	6502	broad.mit.edu	37	5	36163786	36163786	+	Missense_Mutation	SNP	G	G	C			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr5:36163786G>C	ENST00000274255.6	+	3	516	c.320G>C	c.(319-321)gGa>gCa	p.G107A	SKP2_ENST00000274254.5_Missense_Mutation_p.G107A|SKP2_ENST00000546211.1_Intron|SKP2_ENST00000508514.1_Intron	NM_005983.3	NP_005974.2	Q13309	SKP2_HUMAN	S-phase kinase-associated protein 2, E3 ubiquitin protein ligase	107	F-box.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle	nucleoplasm|SCF ubiquitin ligase complex	protein binding			breast(1)|central_nervous_system(2)|ovary(1)	4	all_lung(31;5.63e-05)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTGCTCTTGGGAATCTTTTCC	0.478000													26	40					0	0	1	0	0
KGFLP2	654466	broad.mit.edu	37	9	41963929	41963929	+	RNA	SNP	G	G	C			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr9:41963929G>C	ENST00000454645.1	-	0	666					NR_003670.1																						CTACTGTCCTGATTTCCATGA	0.398000													9	127					0	0	1	0	0
HSPA12B	116835	broad.mit.edu	37	20	3726181	3726181	+	Missense_Mutation	SNP	G	G	C			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr20:3726181G>C	ENST00000254963.2	+	6	640	c.495G>C	c.(493-495)aaG>aaC	p.K165N	HSPA12B_ENST00000542646.1_5'UTR	NM_001197327.1|NM_052970.4	NP_001184256.1|NP_443202.3	Q96MM6	HS12B_HUMAN	heat shock 70kD protein 12B	165							ATP binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	14						TAAATGGAAAGACGATGCCCG	0.637000													32	58					0	0	1	0	0
LRRK1	79705	broad.mit.edu	37	15	101606073	101606073	+	Missense_Mutation	SNP	G	G	A			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr15:101606073G>A	ENST00000284395.5	+	33	5822	c.5422G>A	c.(5422-5424)Gac>Aac	p.D1808N	LRRK1_ENST00000388948.3_Missense_Mutation_p.D1811N|LRRK1_ENST00000532145.1_3'UTR|RP11-505E24.2_ENST00000559857.1_RNA			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	1811					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GCCTGAGGGGGACTCCATCGC	0.632000													27	38					0	0	1	0	0
NEURL4	84461	broad.mit.edu	37	17	7230030	7230030	+	Splice_Site	SNP	C	C	G			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr17:7230030C>G	ENST00000399464.2	-	4	1107	c.1092_splice	c.e4+1	p.E364_splice	NEURL4_ENST00000315614.7_Splice_Site_p.E364_splice|NEURL4_ENST00000570460.1_Splice_Site_p.E342_splice	NM_032442.2	NP_115818.2			neuralized E3 ubiquitin protein ligase 4											central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTTTGCACACCTCAAACATCT	0.557000													12	27					0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30705086	30705086	+	Missense_Mutation	SNP	T	T	C			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr8:30705086T>C	ENST00000256246.2	-	1	1522	c.1448A>G	c.(1447-1449)gAg>gGg	p.E483G		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	483										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		CTCTTTAGCCTCATTTTGGTT	0.328000													6	243					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141812813	141812813	+	Missense_Mutation	SNP	C	C	T			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr2:141812813C>T	ENST00000389484.3	-	10	2395	c.1424G>A	c.(1423-1425)tGt>tAt	p.C475Y		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	475					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATCGACTTCACATGCATGGCT	0.418000										TSP Lung(27;0.18)			4	80					0	0	1	0	0
MAP1B	4131	broad.mit.edu	37	5	71495348	71495348	+	Missense_Mutation	SNP	A	A	G			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr5:71495348A>G	ENST00000296755.7	+	5	6464	c.6166A>G	c.(6166-6168)Aca>Gca	p.T2056A		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	2056						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		TCAGGCATCCACATATTCCTA	0.463000													23	122					0	0	1	0	0
CNOT2	4848	broad.mit.edu	37	12	70729300	70729300	+	Missense_Mutation	SNP	C	C	A			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr12:70729300C>A	ENST00000229195.3	+	8	1311	c.732C>A	c.(730-732)aaC>aaA	p.N244K	CNOT2_ENST00000551483.1_5'UTR|CNOT2_ENST00000418359.3_Missense_Mutation_p.N244K	NM_014515.5	NP_055330.1	Q9NZN8	CNOT2_HUMAN	CCR4-NOT transcription complex, subunit 2	244					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	protein binding|RNA polymerase II transcription cofactor activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			GAAGTGGTAACCCAACTCCAT	0.413000													55	90					9.79885e-19	1.02203e-18	1	1	0
CTAGE5	4253	broad.mit.edu	37	14	39818085	39818085	+	Missense_Mutation	SNP	C	C	G			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr14:39818085C>G	ENST00000553728.1	+	27	3970	c.3757C>G	c.(3757-3759)Cct>Gct	p.P1253A	CTAGE5_ENST00000553383.1_3'UTR|CTAGE5_ENST00000341502.5_Missense_Mutation_p.P718A|RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.P689A|CTAGE5_ENST00000557038.1_Missense_Mutation_p.P638A|CTAGE5_ENST00000396158.2_Missense_Mutation_p.P723A|CTAGE5_ENST00000348007.3_Missense_Mutation_p.P675A|CTAGE5_ENST00000556148.1_Missense_Mutation_p.P643A|CTAGE5_ENST00000396165.4_Missense_Mutation_p.P689A|CTAGE5_ENST00000553352.1_Missense_Mutation_p.P689A|CTAGE5_ENST00000341749.3_Missense_Mutation_p.P706A|CTAGE5_ENST00000280083.3_Missense_Mutation_p.P718A																							AAGAGGACCTCCTTTCCCCCC	0.532000													11	231					0	0	1	0	0
MYH7B	57644	broad.mit.edu	37	20	33577935	33577935	+	Missense_Mutation	SNP	C	C	T			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr20:33577935C>T	ENST00000262873.7	+	19	2104	c.2012C>T	c.(2011-2013)gCg>gTg	p.A671V		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	629	Actin-binding (By similarity).|Myosin head-like.					membrane|myosin filament	actin binding|ATP binding|motor activity	p.A671V(2)		NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			GAGAATTATGCGGGCTCCTGC	0.547000													9	1083					0	0	1	0	0
ALKBH7	84266	broad.mit.edu	37	19	6374950	6374950	+	Missense_Mutation	SNP	C	C	T			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr19:6374950C>T	ENST00000245812.3	+	4	1020	c.632C>T	c.(631-633)cCa>cTa	p.P211L	ALKBH7_ENST00000599849.1_Missense_Mutation_p.P150L|ALKBH7_ENST00000596657.1_Missense_Mutation_p.P69L	NM_032306.3	NP_115682.1	Q9BT30	ALKB7_HUMAN	alkB, alkylation repair homolog 7 (E. coli)	211						extracellular region|nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|kidney(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						GGCATGGGGCCAGGGGAGTCT	0.612000													31	47					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179392441	179392441	+	Missense_Mutation	SNP	C	C	G			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr2:179392441C>G	ENST00000589042.1	-	362	107636	c.107412G>C	c.(107410-107412)ttG>ttC	p.L35804F	TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L26739F|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L26864F|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L33236F|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L26931F|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.L34163F	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	34163							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)			CACTTGTTCTCAATACTACCT	0.468000													20	27					0	0	1	0	0
NOS3	4846	broad.mit.edu	37	7	150710425	150710425	+	Silent	SNP	C	C	T			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr7:150710425C>T	ENST00000297494.3	+	25	3570	c.3213C>T	c.(3211-3213)ggC>ggT	p.G1071G	ATG9B_ENST00000377974.2_3'UTR|ATG9B_ENST00000494791.1_5'UTR|NOS3_ENST00000477227.1_3'UTR|ATG9B_ENST00000444312.1_3'UTR|ATG9B_ENST00000605938.1_3'UTR|NOS3_ENST00000461406.1_Silent_p.G865G	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)	1071					anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	GGGTGTTTGGCCGAGTCCTCA	0.617000											OREG0018443	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	75					0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537000													10	418					0	0	1	0	0
NLRC5	84166	broad.mit.edu	37	16	57074583	57074583	+	Silent	SNP	C	C	G			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr16:57074583C>G	ENST00000436936.1	+	17	3117	c.2892C>G	c.(2890-2892)ctC>ctG	p.L964L	NLRC5_ENST00000308149.7_Silent_p.L964L|NLRC5_ENST00000539144.1_Silent_p.L964L|NLRC5_ENST00000262510.6_Silent_p.L964L			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	964					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				TTGACAGCCTCATGCTCCAGA	0.602000													38	51					0	0	1	0	0
TRAIP	10293	broad.mit.edu	37	3	49867055	49867055	+	Missense_Mutation	SNP	C	C	G			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr3:49867055C>G	ENST00000331456.2	-	13	1344	c.1231G>C	c.(1231-1233)Gat>Cat	p.D411H	TRAIP_ENST00000469027.1_Missense_Mutation_p.D256H	NM_005879.2	NP_005870.2	Q9BWF2	TRAIP_HUMAN	TRAF interacting protein	411	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)		CTCACCACATCTTTGCTGCAA	0.572000													28	47					0	0	1	0	0
RP11-478B9.1	0	broad.mit.edu	37	12	45458578	45458578	+	RNA	SNP	G	G	A			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr12:45458578G>A	ENST00000548424.1	+	0	448																											ACAAACTGTCGGCTACTAGAG	0.463000													12	26					0	0	1	0	0
CALCOCO2	10241	broad.mit.edu	37	17	46929948	46929948	+	Silent	SNP	G	G	A			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr17:46929948G>A	ENST00000258947.3	+	8	884	c.783G>A	c.(781-783)ctG>ctA	p.L261L	CALCOCO2_ENST00000416445.2_Silent_p.L219L|CALCOCO2_ENST00000448105.2_Silent_p.L285L|CALCOCO2_ENST00000509507.1_Silent_p.L282L|CALCOCO2_ENST00000508679.1_Silent_p.L189L	NM_001261390.1|NM_001261391.1|NM_001261393.1|NM_001261395.1|NM_005831.4	NP_001248319.1|NP_001248320.1|NP_001248322.1|NP_001248324.1|NP_005822.1	Q13137	CACO2_HUMAN	calcium binding and coiled-coil domain 2	261					response to interferon-gamma|viral reproduction	cytoskeleton|Golgi apparatus|nucleus|perinuclear region of cytoplasm|soluble fraction	protein homodimerization activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	15						TAGAGCAGCTGAAAAAGGAAA	0.388000													49	40					0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	42049848	42049848	+	Silent	SNP	G	G	A			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr1:42049848G>A	ENST00000372584.1	-	3	1635	c.621C>T	c.(619-621)ctC>ctT	p.L207L	HIVEP3_ENST00000429157.2_Silent_p.L207L|HIVEP3_ENST00000372583.1_Silent_p.L207L|HIVEP3_ENST00000247584.5_Silent_p.L207L	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	207	ZAS1.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TGTGCTTCTGGAGCACGCTGG	0.582000													47	50					0	0	1	0	0
PITRM1	10531	broad.mit.edu	37	10	3180497	3180497	+	Missense_Mutation	SNP	C	C	T			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr10:3180497C>T	ENST00000380989.2	-	26	2991	c.2953G>A	c.(2953-2955)Gag>Aag	p.E985K	PITRM1_ENST00000464395.1_5'UTR|PITRM1_ENST00000451104.2_Missense_Mutation_p.E886K|PITRM1_ENST00000380994.1_Missense_Mutation_p.E542K|PITRM1_ENST00000224949.4_Missense_Mutation_p.E984K	NM_001242307.1|NM_014889.3	NP_001229236.1|NP_055704.2	E7ES23	E7ES23_HUMAN	pitrilysin metallopeptidase 1	886					proteolysis		metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						TGCTTCATCTCATCCGAGAGG	0.607000													38	43					0	0	1	0	0
DDX3X	1654	broad.mit.edu	37	X	41193508	41193508	+	Translation_Start_Site	SNP	G	G	C			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chrX:41193508G>C	ENST00000399959.2	+	1	858	c.3G>C	c.(1-3)atG>atC	p.M1I	DDX3X_ENST00000441189.2_Start_Codon_SNP_p.M1I|DDX3X_ENST00000457138.2_Start_Codon_SNP_p.M1I|DDX3X_ENST00000478993.1_3'UTR	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	1					interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						CTTCAGGGATGAGTCATGTGG	0.612000										HNSCC(61;0.18)			12	3					0	0	1	0	0
ST8SIA5	29906	broad.mit.edu	37	18	44261974	44261974	+	Missense_Mutation	SNP	G	G	A			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr18:44261974G>A	ENST00000315087.7	-	6	1283	c.623C>T	c.(622-624)aCg>aTg	p.T208M	ST8SIA5_ENST00000536490.1_Missense_Mutation_p.T177M|ST8SIA5_ENST00000538168.1_Missense_Mutation_p.T244M|ST8SIA5_ENST00000590497.1_5'UTR	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	208					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane				kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						GACCACATCCGTCTTCACCCC	0.532000													27	31					0	0	1	0	0
LILRA5	353514	broad.mit.edu	37	19	54818780	54818780	+	Missense_Mutation	SNP	C	C	T			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr19:54818780C>T	ENST00000301219.3	-	7	937	c.818G>A	c.(817-819)gGc>gAc	p.G273D	LILRA5_ENST00000346508.3_Missense_Mutation_p.G261D	NM_021250.2	NP_067073.1	A6NI73	LIRA5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5	273					innate immune response	extracellular region|integral to membrane	receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CAGGATCAAGCCGGCCATGCC	0.537000													45	75					0	0	1	0	0
CREB5	9586	broad.mit.edu	37	7	28609991	28609991	+	Silent	SNP	G	G	A			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr7:28609991G>A	ENST00000357727.2	+	5	690	c.300G>A	c.(298-300)tcG>tcA	p.S100S	CREB5_ENST00000396299.2_Silent_p.S67S|CREB5_ENST00000409603.1_Silent_p.S67S|CREB5_ENST00000396300.2_Silent_p.S93S	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	100					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						AGAATATCTCGATGCATAATG	0.517000													6	115					0	0	1	0	0
STT3B	201595	broad.mit.edu	37	3	31674465	31674465	+	Silent	SNP	T	T	C			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr3:31674465T>C	ENST00000295770.2	+	15	2435	c.2226T>C	c.(2224-2226)cgT>cgC	p.R742R		NM_178862.1	NP_849193.1	Q8TCJ2	STT3B_HUMAN	STT3B, subunit of the oligosaccharyltransferase complex (catalytic)	742					protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			autonomic_ganglia(1)|biliary_tract(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	19						ACCGAACACGTAATGCTGAGA	0.368000													6	148					0	0	1	0	0
RFTN1	23180	broad.mit.edu	37	3	16450954	16450954	+	Missense_Mutation	SNP	G	G	C			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr3:16450954G>C	ENST00000334133.4	-	4	641	c.369C>G	c.(367-369)atC>atG	p.I123M	RFTN1_ENST00000432519.1_Missense_Mutation_p.I87M	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	123						plasma membrane				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						CTAATTCCAAGATGTAGCCTT	0.418000													36	54					0	0	1	0	0
PARD6G	84552	broad.mit.edu	37	18	77918383	77918383	+	Silent	SNP	G	G	A			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr18:77918383G>A	ENST00000353265.3	-	3	599	c.402C>T	c.(400-402)atC>atT	p.I134I	AC139100.2_ENST00000586421.1_Intron|AC139100.2_ENST00000589574.1_Intron|AC139100.2_ENST00000587254.1_Intron|AC139100.2_ENST00000585422.1_Intron	NM_032510.3	NP_115899.1	Q9BYG4	PAR6G_HUMAN	par-6 family cell polarity regulator gamma	134	Interaction with PARD3 and CDC42 (By similarity).|Pseudo-CRIB.				cell cycle|cell division|tight junction assembly	cytosol|tight junction	protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	8		all_cancers(4;5.63e-22)|all_epithelial(4;5.86e-15)|all_lung(4;1.32e-05)|Ovarian(4;1.33e-05)|Lung NSC(4;2.77e-05)|Esophageal squamous(42;0.0157)|all_hematologic(56;0.13)|Melanoma(33;0.144)		Epithelial(2;1.48e-13)|all cancers(1;5.77e-13)|OV - Ovarian serous cystadenocarcinoma(15;2.74e-10)|BRCA - Breast invasive adenocarcinoma(31;0.00166)|STAD - Stomach adenocarcinoma(84;0.18)|Lung(128;0.23)		GCGGGAGGCCGATGTCCAGGT	0.731000													6	6					0	0	1	0	0
DDX59	83479	broad.mit.edu	37	1	200619732	200619732	+	Nonsense_Mutation	SNP	G	G	A			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr1:200619732G>A	ENST00000447706.2	-	5	1286	c.1135C>T	c.(1135-1137)Cag>Tag	p.Q379*	DDX59_ENST00000367348.3_Nonsense_Mutation_p.Q379*|DDX59_ENST00000331314.6_Nonsense_Mutation_p.Q379*			Q5T1V6	DDX59_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 59	379	Helicase ATP-binding.					intracellular	ATP binding|ATP-dependent helicase activity|metal ion binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						AAAATGGTCTGACAATCATTA	0.363000													40	55					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27087901	27087902	+	Frame_Shift_Ins	INS	-	-	GT			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr1:27087901_27087902insGT	ENST00000324856.7	+	6	2559_2560	c.2188_2189insGT	c.(2188-2190)tggfs	p.W730fs	ARID1A_ENST00000457599.2_Frame_Shift_Ins_p.W730fs|ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.W347fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	730					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.R727fs*12(1)|p.P728fs(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)		TCGGCCACCCAGTGGCCAGTCG	0.530			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								24	63	---	---	---	---					
TMEM127	55654	broad.mit.edu	37	2	96919781	96919783	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr2:96919781_96919783delTGC	ENST00000258439.2	-	4	736_738	c.480_482delGCA	c.(478-483)cat>ca	p.QH160del	TMEM127_ENST00000432959.1_In_Frame_Del_p.QH160del|TMEM127_ENST00000435268.1_In_Frame_Del_p.QH76del	NM_001193304.2|NM_017849.3	NP_001180233.1|NP_060319.1	O75204	TM127_HUMAN	transmembrane protein 127	160					negative regulation of cell proliferation|negative regulation of TOR signaling cascade	cytoplasm|integral to membrane|plasma membrane				endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)	5						GTACTTCTTATGCTGCTGCTGCT	0.557													7	105	---	---	---	---					
LINC01158	100506421	broad.mit.edu	37	2	105440927	105440929	+	RNA	DEL	TGG	TGG	-			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr2:105440927_105440929delTGG	ENST00000458253.1	-	0	147				AC018730.1_ENST00000454729.1_RNA|AC018730.1_ENST00000443988.1_RNA|AC018730.1_ENST00000447876.1_RNA|AC018730.1_ENST00000413121.1_RNA																							gtggtggtgatggtggtggtggt	0.591													5	7	---	---	---	---					
TMCC1	23023	broad.mit.edu	37	3	129546680	129546682	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr3:129546680_129546682delGCA	ENST00000393238.3	-	3	880_882	c.540_542delTGC	c.(538-543)gca>gc	p.AA180del	TMCC1_ENST00000426664.2_In_Frame_Del_p.AA66del	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	180						integral to membrane			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						TGGTAGACATgcagcagcagcag	0.483													9	240	---	---	---	---					
ADAD1	132612	broad.mit.edu	37	4	123302211	123302211	+	Frame_Shift_Del	DEL	A	A	-			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr4:123302211delA	ENST00000296513.2	+	4	422	c.237delA	c.(235-237)ccfs	p.P79fs	ADAD1_ENST00000388725.2_Frame_Shift_Del_p.P61fs|ADAD1_ENST00000388724.2_Frame_Shift_Del_p.P79fs|ADAD1_ENST00000492454.1_3'UTR	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	79					multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						TCCTTCCTCCAAAAAAAATAC	0.358													7	110	---	---	---	---					
ETV7	51513	broad.mit.edu	37	6	36341235	36341235	+	Frame_Shift_Del	DEL	G	G	-			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr6:36341235delG	ENST00000373738.1	-	3	1108	c.263delC	c.(262-264)cgfs	p.P88fs	ETV7_ENST00000339796.5_Frame_Shift_Del_p.P143fs|ETV7_ENST00000340181.4_Frame_Shift_Del_p.P143fs|ETV7_ENST00000538992.1_5'UTR|ETV7_ENST00000373737.4_Frame_Shift_Del_p.P143fs	NM_001207036.1	NP_001193965.1	Q9Y603	ETV7_HUMAN	ets variant 7	143	PNT.				organ morphogenesis|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(4)	10						CTCACCTTCCGGGGGGACTGG	0.597													2	4	---	---	---	---					
FOLH1B	219595	broad.mit.edu	37	11	89403521	89403522	+	RNA	INS	-	-	T			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr11:89403521_89403522insT	ENST00000532352.1	+	0	908							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						GTTTTGTTTTGTTTTTTTTCAA	0.332													31	40	---	---	---	---					
WDR7	23335	broad.mit.edu	37	18	54547341	54547347	+	Frame_Shift_Del	DEL	TGAGGGA	TGAGGGA	-			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr18:54547341_54547347delTGAGGGA	ENST00000254442.3	+	21	3682_3688	c.3471_3477delTGAGGGA	c.(3469-3477)ccfs	p.PEG1157fs	WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Frame_Shift_Del_p.PEG1124fs	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	1157										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		GCCAAATTCCTGAGGGATTCGGGTTGA	0.411													17	40	---	---	---	---					
