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
HYI	81888	broad.mit.edu	37	1	43917930	43917930	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr1:43917930C>G	ENST00000372425.4	-	3	567	c.372G>C	c.(370-372)gaG>gaC	p.E124D	HYI_ENST00000372426.1_Missense_Mutation_p.E76D|SZT2_ENST00000372442.1_3'UTR|HYI_ENST00000372434.1_Missense_Mutation_p.E149D|SZT2_ENST00000562955.1_3'UTR|HYI_ENST00000583037.1_Missense_Mutation_p.E51D|HYI_ENST00000372432.1_Missense_Mutation_p.E124D|HYI_ENST00000486909.1_Missense_Mutation_p.E124D			Q5T013	HYI_HUMAN	hydroxypyruvate isomerase (putative)	124							hydroxypyruvate isomerase activity	p.E51D(1)|p.E124D(1)		large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2)	6	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CGGCCTCCATCTCAGCCTTGA	0.562000													7	27					0	0	0.029380	0	0
BRMS1	25855	broad.mit.edu	37	11	66105149	66105149	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr11:66105149G>C	ENST00000425825.2	-	10	1017	c.863C>G	c.(862-864)cCg>cGg	p.P288R	BRMS1_ENST00000359957.3_3'UTR|RP11-867G23.12_ENST00000526655.1_RNA	NM_001024957.1	NP_001020128.1	Q9HCU9	BRMS1_HUMAN	breast cancer metastasis suppressor 1	0					apoptosis|negative regulation of anti-apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of anoikis|positive regulation of protein deacetylation|transcription, DNA-dependent	cytoplasm|nucleus	NF-kappaB binding	p.P288R(1)		large_intestine(1)|liver(1)|lung(1)|prostate(1)|skin(1)	5						TCAGCTCCACGGCCACAGCTG	0.662000													13	17					0	0	0.093190	0	0
SEC31A	22872	broad.mit.edu	37	4	83776177	83776177	+	Silent	SNP	G	G	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr4:83776177G>A	ENST00000432794.1	-	17	2050	c.1887C>T	c.(1885-1887)atC>atT	p.I629I	SEC31A_ENST00000311785.7_Silent_p.I629I|SEC31A_ENST00000500777.2_Silent_p.I590I|SEC31A_ENST00000448323.1_Silent_p.I629I|SEC31A_ENST00000505472.1_Silent_p.I629I|SEC31A_ENST00000513858.1_Silent_p.I590I|SEC31A_ENST00000326950.5_Silent_p.I590I|SEC31A_ENST00000264405.5_Silent_p.I362I|SEC31A_ENST00000509142.1_Silent_p.I629I|SEC31A_ENST00000505984.1_Silent_p.I590I|SEC31A_ENST00000355196.2_Silent_p.I629I|SEC31A_ENST00000348405.4_Silent_p.I590I|SEC31A_ENST00000395310.2_Silent_p.I629I|SEC31A_ENST00000443462.2_Silent_p.I624I|SEC31A_ENST00000508479.1_Silent_p.I629I|SEC31A_ENST00000508502.1_Silent_p.I629I			O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	629					COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding	p.I629I(2)	SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				CCACTGCAGTGATGAGCTTGA	0.348000													7	34					0	0	0.029380	0	0
SCNN1B	6338	broad.mit.edu	37	16	23387131	23387131	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr16:23387131C>T	ENST00000343070.2	+	8	1401	c.1225C>T	c.(1225-1227)Ccc>Tcc	p.P409S	SCNN1B_ENST00000568085.1_Missense_Mutation_p.P373S|SCNN1B_ENST00000568923.1_Missense_Mutation_p.P382S|SCNN1B_ENST00000307331.5_Missense_Mutation_p.P454S	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	409					excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding	p.P409S(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	GTACCCACTGCCCCGTGGGGA	0.617000													4	169					0	0	0.009096	0	0
ARHGEF1	9138	broad.mit.edu	37	19	42410144	42410144	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr19:42410144G>A	ENST00000599846.1	+	27	2751	c.2626G>A	c.(2626-2628)Gag>Aag	p.E876K	ARHGEF1_ENST00000354532.3_Missense_Mutation_p.E820K|ARHGEF1_ENST00000347545.4_Missense_Mutation_p.E787K|ARHGEF1_ENST00000337665.4_Missense_Mutation_p.E835K|ARHGEF1_ENST00000378152.4_Missense_Mutation_p.E802K			Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	820				S -> R (in Ref. 3; CAA70356).	cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity	p.E835K(1)		breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		ACCAGGCCCCGAGGGCCAGCT	0.642000													26	125					0	0	0.034045	0	0
NUDT14	256281	broad.mit.edu	37	14	105644073	105644073	+	Splice_Site	SNP	C	C	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr14:105644073C>T	ENST00000392568.2	-	2	175		c.e2-1		RP11-44N21.4_ENST00000548203.1_RNA	NM_177533.4	NP_803877.2	O95848	NUD14_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 14							cytoplasm	metal ion binding|protein binding|UDP-sugar diphosphatase activity	p.?(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)		GGGCACCATTCTAGAAGGGGC	0.617000										HNSCC(42;0.11)			50	159					0	0	0.048971	0	0
CRNKL1	51340	broad.mit.edu	37	20	20026049	20026049	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr20:20026049C>T	ENST00000377340.2	-	7	1218	c.1187G>A	c.(1186-1188)cGg>cAg	p.R396Q	CRNKL1_ENST00000377327.4_Missense_Mutation_p.R384Q|CRNKL1_ENST00000536226.1_Missense_Mutation_p.R235Q	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	396					spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding	p.R396L(1)|p.R396Q(1)		breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						ATACACTTTCCGTGCATGGGC	0.418000													44	190					0	0	0.104719	0	0
FKBP5	2289	broad.mit.edu	37	6	35554818	35554818	+	Missense_Mutation	SNP	T	T	C	rs61753297		TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr6:35554818T>C	ENST00000542713.1	-	7	899	c.742A>G	c.(742-744)Act>Gct	p.T248A	FKBP5_ENST00000357266.4_Missense_Mutation_p.Y278C|FKBP5_ENST00000539068.1_Missense_Mutation_p.Y278C|FKBP5_ENST00000540787.1_Missense_Mutation_p.Y99C|FKBP5_ENST00000536438.1_Missense_Mutation_p.Y278C	NM_001145777.1	NP_001139249.1	Q13451	FKBP5_HUMAN	FK506 binding protein 5	0					protein folding	cytoplasm|membrane|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity	p.Y278C(1)|p.T248A(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2)	17						CACCTTGAAGTATACGGTTCC	0.408000													95	91					0	0	0.048971	0	0
MCM3AP	8888	broad.mit.edu	37	21	47674341	47674341	+	Silent	SNP	C	C	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr21:47674341C>T	ENST00000397708.1	-	20	4355	c.4101G>A	c.(4099-4101)ccG>ccA	p.P1367P	MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP_ENST00000291688.1_Silent_p.P1367P|MCM3AP_ENST00000467026.1_5'UTR			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	1367					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	p.P1367P(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					CCTCTACATCCGGCAACACCA	0.617000													9	153					0	0	0.047766	0	0
FLG	2312	broad.mit.edu	37	1	152276103	152276103	+	Missense_Mutation	SNP	C	C	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr1:152276103C>A	ENST00000368799.1	-	3	11294	c.11259G>T	c.(11257-11259)gaG>gaT	p.E3753D	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3753	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.E3753D(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTCCTGACCCTCTTGGGACG	0.617000									Ichthyosis				155	941					6.42063e-57	7.49738e-57	0.048971	1	0
TGM2	7052	broad.mit.edu	37	20	36758657	36758657	+	Silent	SNP	C	C	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr20:36758657C>T	ENST00000361475.2	-	13	2201	c.2028G>A	c.(2026-2028)gtG>gtA	p.V676V	TGM2_ENST00000536701.1_Silent_p.V595V|TGM2_ENST00000536724.1_Silent_p.V616V	NM_004613.2|NM_198951.1	NP_004604.2|NP_945189.1	P21980	TGM2_HUMAN	transglutaminase 2	676					apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity	p.V676V(1)		endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	GGAAGCCCTTCACAGCCTTCA	0.587000													4	31					0	0	0.009096	0	0
SCAPER	49855	broad.mit.edu	37	15	77025725	77025725	+	Splice_Site	SNP	C	C	G			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr15:77025725C>G	ENST00000538941.2	-	16	2068	c.1129G>C	c.(1129-1131)Gta>Cta	p.V377L	SCAPER_ENST00000563290.1_Splice_Site_p.V623L|SCAPER_ENST00000324767.7_Splice_Site_p.V623L	NM_001145923.1	NP_001139395.1	Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	622						endoplasmic reticulum|nucleus	zinc ion binding	p.V623L(1)		NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						ATTTCATTTACCTTTAAAAAA	0.348000													7	63					0	0	0.029380	0	0
LRRC29	26231	broad.mit.edu	37	16	67242311	67242311	+	Silent	SNP	A	A	G			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr16:67242311A>G	ENST00000409037.1	-	2	1085	c.189T>C	c.(187-189)tgT>tgC	p.C63C	LRRC29_ENST00000409509.1_Silent_p.C63C|LRRC29_ENST00000393992.1_Silent_p.C63C|LRRC29_ENST00000341546.3_Silent_p.C63C			Q8WV35	LRC29_HUMAN	leucine rich repeat containing 29	63								p.C63C(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(1)|lung(2)|urinary_tract(1)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		GTGGCTCTGGACAGGCGTCCT	0.592000													3	187					0	0	0.004672	0	0
TRPM5	29850	broad.mit.edu	37	11	2439011	2439011	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr11:2439011C>G	ENST00000452833.1	-	7	969	c.961G>C	c.(961-963)Gag>Cag	p.E321Q	TRPM5_ENST00000155858.6_Missense_Mutation_p.E319Q|TRPM5_ENST00000533060.1_Missense_Mutation_p.E319Q|TRPM5_ENST00000528453.1_Missense_Mutation_p.E319Q			Q9NZQ8	TRPM5_HUMAN	transient receptor potential cation channel, subfamily M, member 5	319						integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity	p.E319Q(1)		breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		CCCTCCTGCTCGAAGTCATAC	0.662000													5	18					0	0	0.029380	0	0
SVIL	6840	broad.mit.edu	37	10	29777621	29777621	+	Silent	SNP	G	G	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr10:29777621G>A	ENST00000375398.2	-	25	4706	c.4257C>T	c.(4255-4257)agC>agT	p.S1419S	SVIL_ENST00000355867.4_Silent_p.S1419S|SVIL_ENST00000375400.3_Silent_p.S993S|SVIL_ENST00000535393.1_Silent_p.S333S|SVIL_ENST00000538146.1_Silent_p.S211S			O95425	SVIL_HUMAN	supervillin	1419	Interaction with NEB.				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	p.S1419S(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				GGCTGACGTTGCTGAAGTTTT	0.507000													10	35					0	0	0.080935	0	0
ANK2	287	broad.mit.edu	37	4	114290876	114290876	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr4:114290876G>A	ENST00000357077.4	+	43	11578	c.11525G>A	c.(11524-11526)cGg>cAg	p.R3842Q	ANK2_ENST00000506722.1_Missense_Mutation_p.R1748Q|ANK2_ENST00000394537.3_Missense_Mutation_p.R1757Q|ANK2_ENST00000510275.2_Missense_Mutation_p.R409Q|ANK2_ENST00000509550.1_Missense_Mutation_p.R933Q|ANK2_ENST00000264366.6_Missense_Mutation_p.R3809Q	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3809					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	p.R3842Q(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AGCTCTCCGCGGAAAACCAGC	0.532000													11	68					0	0	0.080935	0	0
AP1B1	162	broad.mit.edu	37	22	29730359	29730359	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr22:29730359G>C	ENST00000357586.2	-	17	2390	c.2204C>G	c.(2203-2205)tCa>tGa	p.S735*	AP1B1_ENST00000405198.1_Nonsense_Mutation_p.S735*|AP1B1_ENST00000472057.1_5'UTR|AP1B1_ENST00000402502.1_Nonsense_Mutation_p.S728*|AP1B1_ENST00000317368.7_Intron|AP1B1_ENST00000432560.2_Nonsense_Mutation_p.S728*|AP1B1_ENST00000356015.2_Nonsense_Mutation_p.S728*|AP1B1_ENST00000415447.1_Nonsense_Mutation_p.S728*	NM_001127.3	NP_001118	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	735					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity	p.S735*(1)		endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GAAGGTGCCTGAGATCTCCAG	0.617000													13	37					0	0	0.093190	0	0
CD300LF	146722	broad.mit.edu	37	17	72691301	72691301	+	Silent	SNP	G	G	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr17:72691301G>A	ENST00000326165.6	-	7	918	c.807C>T	c.(805-807)ctC>ctT	p.L269L	CD300LF_ENST00000469092.1_3'UTR|RAB37_ENST00000402449.4_Intron|CD300LF_ENST00000361254.4_3'UTR|CD300LF_ENST00000343125.4_3'UTR|RAB37_ENST00000340415.3_Intron|CD300LF_ENST00000464910.1_Silent_p.L272L|CD300LF_ENST00000583937.1_Silent_p.L284L|CD300LF_ENST00000301573.9_3'UTR	NM_139018.3	NP_620587.2	Q8TDQ1	CLM1_HUMAN	CD300 molecule-like family member f	269						integral to membrane|plasma membrane	receptor activity	p.L269L(2)		endometrium(2)|large_intestine(1)|lung(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						GGTGGCTACTGAGGTGGCCCA	0.602000													26	90					0	0	0.030593	0	0
ZNF99	7652	broad.mit.edu	37	19	22939544	22939544	+	Missense_Mutation	SNP	A	A	C	rs58378942		TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr19:22939544A>C	ENST00000397104.3	-	7	2626	c.2627T>G	c.(2626-2628)aTg>aGg	p.M876R						zinc finger protein 99									p.M876R(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				CTTATGTTTCATAAGGGTTGA	0.343000													3	69					0	0	0.004672	0	0
HLA-A	3105	broad.mit.edu	37	6	29911314	29911314	+	Missense_Mutation	SNP	C	C	T	rs66792072		TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr6:29911314C>T	ENST00000396634.1	+	5	954	c.613C>T	c.(613-615)Cgc>Tgc	p.R205C	HLA-A_ENST00000376809.5_Missense_Mutation_p.R205C|HLA-A_ENST00000376806.5_Missense_Mutation_p.R205C|HLA-A_ENST00000376802.2_Missense_Mutation_p.R205C			P30443	1A01_HUMAN	major histocompatibility complex, class I, A	205	Alpha-2.		R -> H (in dbSNP:rs17185861).		antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	p.R205C(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						GACGCTGCAGCGCACGGGTAC	0.652000									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			8	80					0	0	0.047766	0	0
DOCK9	23348	broad.mit.edu	37	13	99520199	99520199	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr13:99520199C>T	ENST00000376460.1	-	29	3237	c.3157G>A	c.(3157-3159)Gct>Act	p.A1053T	DOCK9_ENST00000442173.1_Missense_Mutation_p.A1053T|DOCK9_ENST00000339416.2_Missense_Mutation_p.A1054T|DOCK9_ENST00000448493.2_Missense_Mutation_p.A1065T	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	1054					blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	p.A1053T(1)|p.A1065T(1)|p.A1054T(1)		breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TCTCCAGGAGCAAAACAGCTA	0.403000													6	21					0	0	0.047766	0	0
ZNF516	9658	broad.mit.edu	37	18	74153297	74153297	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr18:74153297C>T	ENST00000443185.2	-	3	2031	c.1714G>A	c.(1714-1716)Ggc>Agc	p.G572S	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	572					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G572S(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		CAGGCGGAGCCAGGGCTGCTG	0.736000													6	15					0	0	0.029380	0	0
MRPL35	51318	broad.mit.edu	37	2	86434448	86434448	+	Missense_Mutation	SNP	A	A	C			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr2:86434448A>C	ENST00000337109.4	+	3	410	c.376A>C	c.(376-378)Aag>Cag	p.K126Q	MRPL35_ENST00000254644.8_Missense_Mutation_p.K126Q|MRPL35_ENST00000605125.1_Intron|MRPL35_ENST00000409180.1_Missense_Mutation_p.K126Q	NM_016622.3	NP_057706.2	Q9NZE8	RM35_HUMAN	mitochondrial ribosomal protein L35	126					translation	mitochondrial ribosome	structural constituent of ribosome	p.K126Q(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(2)	14						GGTGAGGAGAAAGGTGAGTCT	0.468000													20	56					0	0	0.069288	0	0
KMT2C	58508	broad.mit.edu	37	7	151945220	151945220	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr7:151945220C>G	ENST00000355193.2	-	14	2517	c.2299G>C	c.(2299-2301)Gag>Cag	p.E767Q	KMT2C_ENST00000262189.6_Missense_Mutation_p.E767Q					lysine (K)-specific methyltransferase 2C									p.E767Q(2)									AATGATGACTCTGTCTCAGAT	0.413000													5	205					0	0	0.021553	0	0
OR2Z1	284383	broad.mit.edu	37	19	8842207	8842207	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr19:8842207G>A	ENST00000324060.2	+	1	892	c.817G>A	c.(817-819)Gtg>Atg	p.V273M		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	273					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V273M(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GCAGGATAACGTGGTTTCCCT	0.537000													27	160					0	0	0.108266	0	0
NCF2	4688	broad.mit.edu	37	1	183532680	183532680	+	Missense_Mutation	SNP	A	A	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr1:183532680A>T	ENST00000413720.1	-	11	1206	c.932T>A	c.(931-933)gTg>gAg	p.V311E	NCF2_ENST00000469280.1_5'UTR|NCF2_ENST00000418089.1_Missense_Mutation_p.V275E|NCF2_ENST00000367536.1_Missense_Mutation_p.V356E|NCF2_ENST00000367535.3_Missense_Mutation_p.V356E	NM_001190794.1	NP_001177723.1	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	356					cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding	p.V356E(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						CTTGTAGTGCACCTTGAGTGT	0.547000													45	384					0	0	0.045515	0	0
BRWD1	54014	broad.mit.edu	37	21	40568278	40568278	+	Silent	SNP	C	C	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr21:40568278C>T	ENST00000342449.3	-	41	6795	c.6717G>A	c.(6715-6717)acG>acA	p.T2239T	BRWD1_ENST00000380800.3_Intron|BRWD1_ENST00000333229.2_Intron	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		p.T2239T(1)		cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				CCTGATTTCTCGTTTTTATTT	0.393000													67	483					0	0	0.048971	0	0
RARA	5914	broad.mit.edu	37	17	38510626	38510626	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr17:38510626C>T	ENST00000254066.5	+	7	1335	c.880C>T	c.(880-882)Cgg>Tgg	p.R294W	RARA_ENST00000394086.3_Missense_Mutation_p.R310W|RARA_ENST00000394081.3_Missense_Mutation_p.R289W|RARA_ENST00000420042.1_3'UTR|RARA_ENST00000394089.2_Missense_Mutation_p.R294W|RARA_ENST00000425707.3_Missense_Mutation_p.R197W	NM_000964.3	NP_000955.1	P10276	RARA_HUMAN	retinoic acid receptor, alpha	294	Ligand-binding.				apoptotic cell clearance|cellular response to estrogen stimulus|cellular response to retinoic acid|estrogen receptor signaling pathway|negative regulation of granulocyte differentiation|negative regulation of interferon-gamma production|negative regulation of tumor necrosis factor production|positive regulation of binding|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-5 production|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	cytoplasm|nucleoplasm	chromatin DNA binding|enzyme binding|protein domain specific binding|protein heterodimerization activity|receptor binding|retinoic acid binding|retinoic acid receptor activity|retinoic acid-responsive element binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	p.R294W(1)		breast(1)|kidney(4)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|urinary_tract(2)	16		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00143)		Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799)	GACCCTGAACCGGACCCAGAT	0.642000			T	"""PML, ZNF145, TIF1, NUMA1, NPM1"""	APL								21	93					0	0	0.076483	0	0
MTTP	4547	broad.mit.edu	37	4	100532321	100532321	+	Silent	SNP	G	G	C			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr4:100532321G>C	ENST00000457717.1	+	14	2047	c.1791G>C	c.(1789-1791)ctG>ctC	p.L597L	MTTP_ENST00000511045.1_Silent_p.L624L|RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000265517.5_Silent_p.L597L	NM_000253.2	NP_000244.2	P55157	MTP_HUMAN	microsomal triglyceride transfer protein	597	Vitellogenin.				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity	p.L597L(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	GTCGAGTTCTGAAGGAAATGG	0.393000													22	86					0	0	0.091800	0	0
AHNAK	79026	broad.mit.edu	37	11	62288867	62288867	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr11:62288867G>A	ENST00000378024.4	-	5	13296	c.13022C>T	c.(13021-13023)cCt>cTt	p.P4341L	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4341					nervous system development	nucleus	protein binding	p.P4341L(1)		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)				GTCAGCCTTAGGAAGGGTAAC	0.502000													10	388					0	0	0.069234	0	0
MAPKAPK3	7867	broad.mit.edu	37	3	50684226	50684226	+	Silent	SNP	C	C	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr3:50684226C>A	ENST00000446044.1	+	11	1481	c.885C>A	c.(883-885)atC>atA	p.I295I	MAPKAPK3_ENST00000357955.2_Silent_p.I295I	NM_001243926.1	NP_001230855.1	Q16644	MAPK3_HUMAN	mitogen-activated protein kinase-activated protein kinase 3	295	Protein kinase.				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity	p.I295I(1)		central_nervous_system(1)|ovary(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)		GGCTGACCATCACTCAGTTCA	0.622000													14	70					1.5739e-10	1.72031e-10	0.028581	1	0
BMS1P20	96610	broad.mit.edu	37	22	22664141	22664141	+	RNA	SNP	G	G	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr22:22664141G>A	ENST00000426066.1	+	0	664					NR_027293.1																						AAATTTGAAGGTGCTGTGATT	0.448000													4	137					0	0	0.009096	0	0
FAM193A	8603	broad.mit.edu	37	4	2692602	2692602	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr4:2692602C>T	ENST00000324666.5	+	13	2186	c.1835C>T	c.(1834-1836)aCg>aTg	p.T612M	FAM193A_ENST00000502458.1_Missense_Mutation_p.T634M|FAM193A_ENST00000545951.1_Missense_Mutation_p.T612M|FAM193A_ENST00000505311.1_Missense_Mutation_p.T612M|FAM193A_ENST00000382839.3_Missense_Mutation_p.T612M	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	612								p.T612M(1)		NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						GTCATGGCCACGTCATCAGCC	0.448000													15	92					0	0	0.033300	0	0
KLHL1	57626	broad.mit.edu	37	13	70314531	70314531	+	Silent	SNP	A	A	G			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr13:70314531A>G	ENST00000377844.4	-	8	2556	c.1797T>C	c.(1795-1797)aaT>aaC	p.N599N	KLHL1_ENST00000545028.1_Silent_p.N406N	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	599					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	p.N599N(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		CTTACTTGCCATTCAATGCTG	0.318000													10	27					0	0	0.069234	0	0
MAGEE2	139599	broad.mit.edu	37	X	75003748	75003748	+	Missense_Mutation	SNP	A	A	G			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chrX:75003748A>G	ENST00000373359.2	-	1	1331	c.1139T>C	c.(1138-1140)cTt>cCt	p.L380P		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	380	MAGE 2.							p.L380P(1)		autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TTGCTGGACAAGGAGGTAGAT	0.443000													38	82					0	0	0.074837	0	0
HERC2P9	440248	broad.mit.edu	37	15	28900454	28900454	+	RNA	SNP	G	G	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr15:28900454G>A	ENST00000528584.1	+	0	50					NR_036443.1																						CAGTCCTTCCGTCATGGGACA	0.438000													3	35					0	0	0.004672	0	0
TMEM163	81615	broad.mit.edu	37	2	135308215	135308215	+	Silent	SNP	G	G	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr2:135308215G>A	ENST00000281924.6	-	4	448	c.384C>T	c.(382-384)gaC>gaT	p.D128D		NM_030923.4	NP_112185.1	Q8TC26	TM163_HUMAN	transmembrane protein 163	128						integral to membrane		p.D128D(1)		endometrium(1)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.154)		ATGACAGGACGTCCAGGATGG	0.502000													11	76					0	0	0.080935	0	0
ELOVL7	79993	broad.mit.edu	37	5	60083198	60083198	+	Silent	SNP	C	C	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr5:60083198C>T	ENST00000508821.1	-	3	341	c.27G>A	c.(25-27)agG>agA	p.R9R	ELOVL7_ENST00000438340.1_Silent_p.R9R|ELOVL7_ENST00000505959.1_5'UTR|ELOVL7_ENST00000425382.1_Silent_p.R9R	NM_024930.2	NP_079206.2	A1L3X0	ELOV7_HUMAN	ELOVL fatty acid elongase 7	9					fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding	p.R9R(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	9		Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481)				GATGCACAGTCCTCGATGTAA	0.338000													11	59					0	0	0.105934	0	0
DLST	1743	broad.mit.edu	37	14	75369021	75369021	+	Silent	SNP	C	C	G			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr14:75369021C>G	ENST00000334220.4	+	15	1411	c.1350C>G	c.(1348-1350)ctC>ctG	p.L450L	DLST_ENST00000334212.6_Silent_p.L364L	NM_001933.4	NP_001924.2	P36957	ODO2_HUMAN	dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex)	450					lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	dihydrolipoyllysine-residue succinyltransferase activity	p.L450L(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00698)		GAGTCCTCCTCCTGGATCTTT	0.547000													9	43					0	0	0.069234	0	0
CROCCP2	84809	broad.mit.edu	37	1	16959762	16959762	+	RNA	SNP	C	C	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr1:16959762C>T	ENST00000412962.1	-	0	74																		p.R35Q(1)									TGGCTCGACCCGGCTCTCTGC	0.662000													3	5					0	0	0.004672	0	0
YAE1D1	57002	broad.mit.edu	37	7	39612174	39612174	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr7:39612174G>C	ENST00000223273.2	+	3	593	c.550G>C	c.(550-552)Gaa>Caa	p.E184Q	YAE1D1_ENST00000432096.2_Intron	NM_020192.3	NP_064577.1	Q9NRH1	CG036_HUMAN	Yae1 domain containing 1	184								p.E184Q(1)									TTCATATGTAGAATGTTGTAG	0.393000													20	92					0	0	0.049695	0	0
SERPINB13	5275	broad.mit.edu	37	18	61255985	61255985	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr18:61255985C>G	ENST00000344731.5	+	2	186	c.84C>G	c.(82-84)ttC>ttG	p.F28L	SERPINB13_ENST00000269489.5_Missense_Mutation_p.F28L	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 13	28					regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity	p.F28L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						GCAACATCTTCTTTTCCCCTG	0.532000													19	53					0	0	0.043863	0	0
LILRA2	11027	broad.mit.edu	37	19	55085807	55085807	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr19:55085807C>T	ENST00000251377.3	+	4	243	c.110C>T	c.(109-111)tCt>tTt	p.S37F	LILRA2_ENST00000391738.3_Missense_Mutation_p.S37F|LILRA2_ENST00000495786.1_3'UTR|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.S37F|LILRA2_ENST00000391737.1_Missense_Mutation_p.S25F|LILRB1_ENST00000448689.1_Intron					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2									p.S37F(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		GAGCCAGGCTCTGTGATCATC	0.542000													99	157					0	0	0.048971	0	0
HIST3H2BB	128312	broad.mit.edu	37	1	228645991	228645991	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr1:228645991G>A	ENST00000369160.2	+	1	184	c.161G>A	c.(160-162)gGc>gAc	p.G54D		NM_175055.2	NP_778225.1	Q8N257	H2B3B_HUMAN	histone cluster 3, H2bb	54					nucleosome assembly	nucleosome|nucleus	DNA binding	p.G54D(2)		skin(1)	1		Prostate(94;0.183)				CCCGACACCGGCATCTCGTCC	0.587000													4	223					0	0	0.009096	0	0
FLRT2	23768	broad.mit.edu	37	14	86088847	86088847	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr14:86088847C>T	ENST00000330753.4	+	2	1756	c.989C>T	c.(988-990)tCa>tTa	p.S330L	FLRT2_ENST00000554746.1_Missense_Mutation_p.S330L	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	330	LRRCT.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	p.S330L(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		TATATCCCTTCATCTCTCAAC	0.478000													94	241					0	0	0.048971	0	0
PAK3	5063	broad.mit.edu	37	X	110463610	110463610	+	Missense_Mutation	SNP	C	C	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chrX:110463610C>A	ENST00000372007.5	+	18	1961	c.1570C>A	c.(1570-1572)Cct>Act	p.P524T	PAK3_ENST00000446737.1_Missense_Mutation_p.P524T|PAK3_ENST00000262836.4_Missense_Mutation_p.P539T|PAK3_ENST00000360648.4_Missense_Mutation_p.P560T|PAK3_ENST00000519681.1_Missense_Mutation_p.P545T|PAK3_ENST00000417227.1_Missense_Mutation_p.P545T|PAK3_ENST00000372010.1_Missense_Mutation_p.P539T|PAK3_ENST00000425146.1_Missense_Mutation_p.P524T|PAK3_ENST00000518291.1_Missense_Mutation_p.P560T	NM_002578.3	NP_002569.1	O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3		Protein kinase.				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding	p.P560T(1)|p.P524T(1)		breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						ATTAGCCAAGCCTCTCTCCAG	0.418000										TSP Lung(19;0.15)			9	16					0.000274275	0.000284882	0.047766	1	0
CUBN	8029	broad.mit.edu	37	10	17142151	17142151	+	Missense_Mutation	SNP	A	A	G			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr10:17142151A>G	ENST00000377833.4	-	14	1683	c.1618T>C	c.(1618-1620)Tct>Cct	p.S540P		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	540	CUB 1.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	p.S540P(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AAAGCAGAAGAGGAATCTCCA	0.408000													17	104					0	0	0.028581	0	0
GRM8	2918	broad.mit.edu	37	7	126544099	126544099	+	Silent	SNP	T	T	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr7:126544099T>A	ENST00000339582.2	-	5	1753	c.945A>T	c.(943-945)atA>atT	p.I315I	GRM8_ENST00000405249.1_Silent_p.I315I|GRM8_ENST00000358373.3_Silent_p.I315I|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000444921.2_Silent_p.I315I			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	315					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		p.I315I(2)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	AGACAGGTGCTATTTTGGATC	0.403000										HNSCC(24;0.065)			35	121					0	0	0.059317	0	0
FASTKD3	79072	broad.mit.edu	37	5	7867809	7867809	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr5:7867809C>T	ENST00000264669.5	-	2	524	c.388G>A	c.(388-390)Gca>Aca	p.A130T	MTRR_ENST00000502509.1_Intron|FASTKD3_ENST00000513658.1_Intron	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	130					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	p.A130T(1)		breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GCTCCTGCTGCCATAGTGTCA	0.418000													14	61					0	0	0.020292	0	0
AFM	173	broad.mit.edu	37	4	74363404	74363404	+	Silent	SNP	C	C	G			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr4:74363404C>G	ENST00000226355.3	+	10	1320	c.1227C>G	c.(1225-1227)ctC>ctG	p.L409L		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	409	Albumin 3.				vitamin transport		vitamin E binding	p.L409L(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AGAAAAGCCTCAAGATGGTAC	0.338000													13	29					0	0	0.024245	0	0
RALGPS2	55103	broad.mit.edu	37	1	178753646	178753646	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr1:178753646G>C	ENST00000367635.3	+	3	489	c.151G>C	c.(151-153)Gaa>Caa	p.E51Q	RALGPS2_ENST00000367634.2_Missense_Mutation_p.E51Q	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	51	Ras-GEF.				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity|protein binding	p.E51Q(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						GGTTACACCAGAAGAATATGC	0.393000													17	77					0	0	0.033300	0	0
NXPH2	11249	broad.mit.edu	37	2	139428760	139428760	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr2:139428760G>A	ENST00000272641.3	-	2	633	c.527C>T	c.(526-528)aCc>aTc	p.T176I		NM_007226.2	NP_009157.1	O95156	NXPH2_HUMAN	neurexophilin 2	176	IV (linker domain).				neuropeptide signaling pathway	extracellular region		p.T176>?(1)|p.T176I(1)		endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)|urinary_tract(3)	22				BRCA - Breast invasive adenocarcinoma(221;0.101)		GGTCTCCAAGGTAGACTGGGG	0.468000													9	39					0	0	0.058154	0	0
CDH22	64405	broad.mit.edu	37	20	44856245	44856245	+	Missense_Mutation	SNP	A	A	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr20:44856245A>T	ENST00000372262.3	-	3	972	c.572T>A	c.(571-573)aTg>aAg	p.M191K	CDH22_ENST00000537909.1_Missense_Mutation_p.M191K	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	191	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.M191K(1)		endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				ATCCGAGGCCATCACCTGCAT	0.682000													12	5					0	0	0.043863	0	0
TCF4	6925	broad.mit.edu	37	18	52946899	52946899	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr18:52946899G>C	ENST00000564403.2	-	9	1082	c.556C>G	c.(556-558)Ctt>Gtt	p.L186V	TCF4_ENST00000563760.1_Intron|TCF4_ENST00000543082.1_Intron|TCF4_ENST00000567880.1_Intron|TCF4_ENST00000537856.3_Intron|TCF4_ENST00000544241.2_Intron|TCF4_ENST00000564999.1_Intron|TCF4_ENST00000537578.1_Intron|TCF4_ENST00000354452.3_Intron|TCF4_ENST00000568673.1_Intron|TCF4_ENST00000564228.1_Intron|TCF4_ENST00000398339.1_Intron|TCF4_ENST00000568740.1_Intron|TCF4_ENST00000570287.2_Intron|TCF4_ENST00000566279.1_Intron|TCF4_ENST00000565018.2_Intron|TCF4_ENST00000561831.3_Intron|TCF4_ENST00000561992.1_Intron|TCF4_ENST00000457482.3_Intron|TCF4_ENST00000566286.1_Intron|TCF4_ENST00000540999.1_Intron|TCF4_ENST00000356073.4_Intron|TCF4_ENST00000570177.2_Intron	NM_001243228.1	NP_001230157.1	P15884	ITF2_HUMAN	transcription factor 4	183					positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		TGAGGAGAAAGAACCAACTGA	0.473000													10	47					0	0	0.069234	0	0
CDH2	1000	broad.mit.edu	37	18	25593677	25593677	+	Silent	SNP	C	C	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr18:25593677C>T	ENST00000269141.3	-	3	792	c.369G>A	c.(367-369)ctG>ctA	p.L123L	CDH2_ENST00000399380.3_Silent_p.L92L	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	123					adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding	p.L123L(1)		NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						AGGTTGGCTTCAGGCTCAATT	0.418000													51	205					0	0	0.048971	0	0
OR4C6	219432	broad.mit.edu	37	11	55433539	55433539	+	Silent	SNP	C	C	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr11:55433539C>T	ENST00000314259.3	+	1	926	c.897C>T	c.(895-897)ctC>ctT	p.L299L		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	299					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L299L(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						TGAAGAAACTCTGGATGAAAT	0.423000													29	55					0	0	0.037714	0	0
SLC7A3	84889	broad.mit.edu	37	X	70149567	70149567	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chrX:70149567G>C	ENST00000374299.3	-	2	425	c.281C>G	c.(280-282)tCt>tGt	p.S94C	SLC7A3_ENST00000298085.4_Missense_Mutation_p.S94C			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	94					cellular nitrogen compound metabolic process	integral to membrane|plasma membrane		p.S94C(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	TGCCGAACCAGAACGGGGAAC	0.542000													10	16					0	0	0.080935	0	0
RYR3	6263	broad.mit.edu	37	15	33872188	33872188	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr15:33872188G>C	ENST00000389232.4	+	13	1350	c.1280G>C	c.(1279-1281)cGc>cCc	p.R427P	RYR3_ENST00000415757.3_Missense_Mutation_p.R427P	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	427					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.R427P(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GGAAACAATCGCACAGCTGCC	0.562000													7	28					0	0	0.029380	0	0
EP400NL	347918	broad.mit.edu	37	12	132589770	132589770	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr12:132589770C>T	ENST00000376625.4	+	1	1231	c.1205C>T	c.(1204-1206)cCa>cTa	p.P402L	EP400NL_ENST00000443539.2_Missense_Mutation_p.P270L|EP400NL_ENST00000389560.2_Missense_Mutation_p.P333L|EP400NL_ENST00000392352.1_Missense_Mutation_p.P270L|EP400NL_ENST00000361109.5_Missense_Mutation_p.P249L					EP400 N-terminal like									p.P402L(2)		endometrium(1)|lung(1)|prostate(2)|urinary_tract(1)	5						CTGTATGGACCATTACAAGCA	0.378000													44	27					0	0	0.039052	0	0
SLC25A22	79751	broad.mit.edu	37	11	792032	792032	+	Silent	SNP	C	C	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr11:792032C>T	ENST00000320230.5	-	10	1336	c.855G>A	c.(853-855)ctG>ctA	p.L285L	SLC25A22_ENST00000531214.1_Silent_p.L285L	NM_001191061.1|NM_024698.5	NP_001177990.1|NP_078974.1	Q9H936	GHC1_HUMAN	solute carrier family 25 (mitochondrial carrier: glutamate), member 22	285						integral to membrane|mitochondrial inner membrane|nucleus	L-glutamate transmembrane transporter activity|protein binding|symporter activity	p.L285L(1)		endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	5		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	L-Glutamic Acid(DB00142)	AGGCGCCCTTCAGGAAGGCCG	0.697000													5	13					0	0	0.029380	0	0
MACF1	23499	broad.mit.edu	37	1	39913530	39913530	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr1:39913530G>C	ENST00000564288.1	+	82	20705	c.19928G>C	c.(19927-19929)aGa>aCa	p.R6643T	MACF1_ENST00000361689.2_Missense_Mutation_p.R4584T|MACF1_ENST00000539005.1_Missense_Mutation_p.R4454T|MACF1_ENST00000372915.3_Missense_Mutation_p.R6542T|MACF1_ENST00000317713.7_Missense_Mutation_p.R4584T|MACF1_ENST00000289893.4_Missense_Mutation_p.R5086T|MACF1_ENST00000545844.1_Missense_Mutation_p.R4584T|MACF1_ENST00000567887.1_Missense_Mutation_p.R6680T			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6652					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	p.R4584T(1)|p.R5086T(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TCTATTGAAAGAGGGCGATCA	0.448000													15	46					0	0	0.024245	0	0
TTN	7273	broad.mit.edu	37	2	179411904	179411904	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr2:179411904G>A	ENST00000589042.1	-	340	94572	c.94348C>T	c.(94348-94350)Cgt>Tgt	p.R31450C	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R22385C|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R22577C|TTN_ENST00000591111.1_Missense_Mutation_p.R29809C|TTN_ENST00000342992.6_Missense_Mutation_p.R28882C|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R22510C|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	29809	Fibronectin type-III 129.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R22510C(1)|p.R28880C(1)|p.R28882C(1)|p.R22577C(1)|p.R22385C(1)		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)			ATTGTATTACGTTCTTTCTTC	0.423000													56	215					0	0	0.048971	0	0
DCHS1	8642	broad.mit.edu	37	11	6662141	6662141	+	Missense_Mutation	SNP	C	C	T	rs143767864	byFrequency	TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr11:6662141C>T	ENST00000299441.3	-	2	1115	c.704G>A	c.(703-705)cGg>cAg	p.R235Q		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	235	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R235Q(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGGGCCCTCCGGGGGGGTGA	0.587000													45	110					0	0	0.048971	0	0
POPDC3	64208	broad.mit.edu	37	6	105609536	105609536	+	Silent	SNP	T	T	C			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr6:105609536T>C	ENST00000254765.3	-	2	527	c.249A>G	c.(247-249)gtA>gtG	p.V83V	POPDC3_ENST00000474760.1_Intron|BVES-AS1_ENST00000369122.3_RNA|BVES-AS1_ENST00000580511.1_RNA|BVES-AS1_ENST00000580854.1_RNA	NM_022361.4	NP_071756.2	Q9HBV1	POPD3_HUMAN	popeye domain containing 3	83						integral to membrane		p.V83V(1)		NS(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(3)|urinary_tract(1)	26		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)				TGACAAACAGTACAAAATTCC	0.433000													90	100					0	0	0.048971	0	0
BAGE2	85319	broad.mit.edu	37	21	11038962	11038962	+	RNA	SNP	C	C	G			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr21:11038962C>G	ENST00000470054.1	-	0	1241									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AATGATGACTCTGTCTCAGAT	0.413000													18	797					0	0	0.043863	0	0
RNASEL	6041	broad.mit.edu	37	1	182555244	182555244	+	Missense_Mutation	SNP	T	T	C			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr1:182555244T>C	ENST00000367559.3	-	2	951	c.698A>G	c.(697-699)aAt>aGt	p.N233S	RNASEL_ENST00000539397.1_Missense_Mutation_p.N233S|RNASEL_ENST00000444138.1_Missense_Mutation_p.N233S	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN	ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	233	2-5A binding (P-loop) 1.				mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding	p.N233S(1)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						TCCCCTCACATTGACATCAGC	0.517000													36	136					0	0	0.059317	0	0
HOXB4	3214	broad.mit.edu	37	17	46654110	46654110	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr17:46654110G>A	ENST00000332503.5	-	2	2521	c.730C>T	c.(730-732)Ccc>Tcc	p.P244S	HOXB3_ENST00000552000.2_Intron|HOXB3_ENST00000472863.1_Intron|HOXB3_ENST00000465120.3_Intron|HOXB3_ENST00000476342.1_Intron|HOXB3_ENST00000498678.1_Intron|HOXB3_ENST00000460160.1_Intron|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000489475.1_Intron	NM_024015.4	NP_076920.1	P17483	HXB4_HUMAN	homeobox B4	244						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P244S(1)		central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2)	9						CCTCCATTGGGCCGGCCAGGG	0.697000													11	50					0	0	0.080935	0	0
MYH7	4625	broad.mit.edu	37	14	23896042	23896042	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr14:23896042C>T	ENST00000355349.3	-	18	2150	c.1988G>A	c.(1987-1989)cGc>cAc	p.R663H		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	663	Actin-binding.|Myosin head-like.		R -> C (in CMH1).|R -> H (in CMH1).|R -> S (in CMH1).		adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.R663H(2)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		ATGGGTGGAGCGCAAGTTGGT	0.478000													18	46					0	0	0.049695	0	0
STAG2	10735	broad.mit.edu	37	X	123200039	123200039	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chrX:123200039C>T	ENST00000371160.1	+	22	2401	c.2111C>T	c.(2110-2112)tCa>tTa	p.S704L	STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Missense_Mutation_p.S704L|STAG2_ENST00000371157.3_Missense_Mutation_p.S704L|STAG2_ENST00000371144.3_Missense_Mutation_p.S704L|STAG2_ENST00000371145.3_Missense_Mutation_p.S704L|STAG2_ENST00000354548.5_Missense_Mutation_p.S635L	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	704					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding	p.S704L(2)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						CATGACCTTTCAAAGTGGGAT	0.289000													19	51					0	0	0.049695	0	0
LEPRE1	64175	broad.mit.edu	37	1	43215938	43215938	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr1:43215938G>A	ENST00000236040.4	-	11	1679	c.1639C>T	c.(1639-1641)Cgc>Tgc	p.R547C	LEPRE1_ENST00000397054.3_Missense_Mutation_p.R547C|LEPRE1_ENST00000296388.5_Missense_Mutation_p.R547C	NM_001243246.1	NP_001230175.1	Q32P28	P3H1_HUMAN	leucine proline-enriched proteoglycan (leprecan) 1	547					negative regulation of cell proliferation	endoplasmic reticulum|proteinaceous extracellular matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity	p.R547C(2)		large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TCCATGATGCGCCGCACCTTC	0.582000													8	28					0	0	0.038147	0	0
CPD	1362	broad.mit.edu	37	17	28778804	28778804	+	Missense_Mutation	SNP	T	T	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr17:28778804T>A	ENST00000225719.4	+	14	3221	c.3145T>A	c.(3145-3147)Tgt>Agt	p.C1049S	CPD_ENST00000584051.1_3'UTR|CPD_ENST00000543464.2_Missense_Mutation_p.C802S	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	1049	Carboxypeptidase-like 3.				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding	p.C1049S(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						AGAGAAAGACTGTACTTCAAA	0.388000													14	91					0	0	0.105934	0	0
ARMC10	83787	broad.mit.edu	37	7	102727178	102727178	+	Silent	SNP	G	G	C	rs150220068	byFrequency	TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr7:102727178G>C	ENST00000323716.3	+	4	887	c.495G>C	c.(493-495)ctG>ctC	p.L165L	ARMC10_ENST00000541300.1_Silent_p.L130L|ARMC10_ENST00000428183.2_Silent_p.L165L|ARMC10_ENST00000441711.2_Silent_p.L130L|ARMC10_ENST00000425331.1_Silent_p.L130L|ARMC10_ENST00000454559.1_Silent_p.L130L	NM_031905.4	NP_114111.2	Q8N2F6	ARM10_HUMAN	armadillo repeat containing 10	165					regulation of growth	endoplasmic reticulum membrane|integral to membrane	binding	p.L165L(2)		NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	11						TAAATAACCTGAGTGTGAATG	0.289000													4	98					0	0	0.014758	0	0
FERD3L	222894	broad.mit.edu	37	7	19184975	19184975	+	Missense_Mutation	SNP	T	T	C			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr7:19184975T>C	ENST00000275461.3	-	1	69	c.11A>G	c.(10-12)tAt>tGt	p.Y4C	AC003986.5_ENST00000452700.1_RNA	NM_152898.2	NP_690862.1	Q96RJ6	FER3L_HUMAN	Fer3-like bHLH transcription factor	4					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.Y4C(1)		breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						GCTCTCCGGATAGGCCGCCAT	0.642000													11	60					0	0	0.093190	0	0
CBLB	868	broad.mit.edu	37	3	105378062	105378062	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr3:105378062C>T	ENST00000264122.4	-	19	3022	c.2701G>A	c.(2701-2703)Gca>Aca	p.A901T	CBLB_ENST00000407712.1_Missense_Mutation_p.A116T|CBLB_ENST00000394027.3_Missense_Mutation_p.A879T	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	901	Interaction with SH3KBP1.|Pro-rich.				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding	p.A901T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						CTGGCTGGTGCCTGTGAACCA	0.443000			Mis S		AML								4	74					0	0	0.014758	0	0
ZIM3	114026	broad.mit.edu	37	19	57647056	57647056	+	Missense_Mutation	SNP	G	G	C	rs150862431		TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr19:57647056G>C	ENST00000269834.1	-	5	1034	c.649C>G	c.(649-651)Cac>Gac	p.H217D		NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	217					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H217D(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TCCTCTGCGTGAGTTTTCTGA	0.428000													40	209					0	0	0.092188	0	0
ZNF831	128611	broad.mit.edu	37	20	57767955	57767955	+	Silent	SNP	G	G	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr20:57767955G>T	ENST00000371030.2	+	1	1881	c.1881G>T	c.(1879-1881)acG>acT	p.T627T		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	627						intracellular	nucleic acid binding|zinc ion binding	p.T627T(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GGGATGAGACGTTCAAAAGGA	0.592000													11	85					2.68362e-12	3.0031e-12	0.093190	1	0
ZNF714	148206	broad.mit.edu	37	19	21281118	21281118	+	Splice_Site	SNP	G	G	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr19:21281118G>A	ENST00000596143.1	+	3	368		c.e3+1		ZNF714_ENST00000596053.1_Splice_Site|ZNF714_ENST00000291770.7_Splice_Site|ZNF714_ENST00000601416.1_Splice_Site	NM_182515.3	NP_872321	Q96N38	ZN714_HUMAN	zinc finger protein 714						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.?(2)		endometrium(2)|kidney(3)|lung(11)|urinary_tract(2)	18						GTCTTCTTGGGTGAGAATAAC	0.328000													22	65					0	0	0.069288	0	0
CARM1	10498	broad.mit.edu	37	19	11032381	11032381	+	Missense_Mutation	SNP	C	C	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr19:11032381C>A	ENST00000327064.4	+	16	1965	c.1775C>A	c.(1774-1776)tCc>tAc	p.S592Y	CARM1_ENST00000344150.4_Missense_Mutation_p.S569Y	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN	coactivator-associated arginine methyltransferase 1	592	Transactivation domain (By similarity).				cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding	p.S592Y(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						CCCGCCATCTCCATGGCGTCG	0.652000													34	156					5.66738e-07	5.95233e-07	0.086207	1	0
CXXC4	80319	broad.mit.edu	37	4	105411974	105411974	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr4:105411974C>T	ENST00000394767.2	-	2	1436	c.986G>A	c.(985-987)cGc>cAc	p.R329H	CXXC4_ENST00000466963.1_Intron|CXXC4_ENST00000426831.1_Missense_Mutation_p.R160H	NM_025212.2	NP_079488.2	Q9H2H0	CXXC4_HUMAN	CXXC finger protein 4	160					negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway|zygotic specification of dorsal/ventral axis		DNA binding|PDZ domain binding|zinc ion binding	p.R160H(1)		kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(123;3.05e-08)		TCCCGTTTTGCGGTTCCTGCA	0.507000													4	155					0	0	0.014758	0	0
SLC38A2	54407	broad.mit.edu	37	12	46764360	46764360	+	Silent	SNP	C	C	G			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr12:46764360C>G	ENST00000256689.5	-	4	693	c.249G>C	c.(247-249)gcG>gcC	p.A83A	SLC38A2_ENST00000547252.1_5'UTR	NM_018976.4	NP_061849.2	Q96QD8	S38A2_HUMAN	solute carrier family 38, member 2	83	Regulates protein turnover upon amino acid deprivation (By similarity).				cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity	p.A83A(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	18	Lung SC(27;0.192)|Renal(347;0.236)		OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)		TGCCCACAATCGCATTGCTCA	0.393000													24	105					0	0	0.099896	0	0
ZNF668	79759	broad.mit.edu	37	16	31075213	31075213	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr16:31075213G>A	ENST00000538906.1	-	2	1352	c.568C>T	c.(568-570)Cac>Tac	p.H190Y	ZNF668_ENST00000426488.2_Missense_Mutation_p.H213Y|ZNF668_ENST00000300849.4_Missense_Mutation_p.H190Y|ZNF668_ENST00000394983.2_Missense_Mutation_p.H190Y|ZNF668_ENST00000539836.3_Missense_Mutation_p.H213Y|ZNF668_ENST00000535577.1_Missense_Mutation_p.H190Y	NM_001172668.1	NP_001166139	Q96K58	ZN668_HUMAN	zinc finger protein 668	190					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H190Y(1)|p.H213Y(1)		breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						AGGCCAGCGTGAGTACGCCGG	0.657000													9	14					0	0	0.047766	0	0
OR10T2	128360	broad.mit.edu	37	1	158368889	158368889	+	Missense_Mutation	SNP	C	C	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr1:158368889C>A	ENST00000334438.1	-	1	367	c.368G>T	c.(367-369)cGc>cTc	p.R123L		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	123					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R123L(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					TGCTACATAGCGATCATATCC	0.473000													28	445					1.88708e-17	2.15013e-17	0.037714	1	0
SIRPB2	284759	broad.mit.edu	37	20	1459226	1459226	+	Missense_Mutation	SNP	A	A	C			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr20:1459226A>C	ENST00000359801.3	-	3	514	c.478T>G	c.(478-480)Tgg>Ggg	p.W160G	SIRPB2_ENST00000608747.1_5'UTR|SIRPB2_ENST00000537284.1_Missense_Mutation_p.W22G|SIRPB2_ENST00000444444.2_Missense_Mutation_p.W62G	NM_001122962.1	NP_001116434.1	Q5JXA9	SIRB2_HUMAN	signal-regulatory protein beta 2	160	Ig-like V-type 2.					integral to membrane		p.W160G(1)|p.W259G(1)		endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TGGATGATCCACAGGTCTGGT	0.547000													10	76					0	0	0.069234	0	0
SCN3A	6328	broad.mit.edu	37	2	166003482	166003482	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr2:166003482C>G	ENST00000360093.3	-	12	1929	c.1438G>C	c.(1438-1440)Gag>Cag	p.E480Q	SCN3A_ENST00000409101.3_Missense_Mutation_p.E480Q|SCN3A_ENST00000283254.7_Missense_Mutation_p.E480Q	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	480						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.E480Q(2)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	TCCAACAGCTCTCCTAACCCA	0.443000													33	85					0	0	0.059317	0	0
CENPE	1062	broad.mit.edu	37	4	104080302	104080302	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr4:104080302G>C	ENST00000265148.3	-	22	2555	c.2466C>G	c.(2464-2466)ttC>ttG	p.F822L	CENPE_ENST00000380026.3_Missense_Mutation_p.F797L	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	822					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity	p.F822L(1)		NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		GAAGGGTTTTGAAATTTTGGA	0.348000													11	71					0	0	0.069234	0	0
HMCN1	83872	broad.mit.edu	37	1	186092199	186092199	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr1:186092199G>A	ENST00000271588.4	+	81	12575	c.12346G>A	c.(12346-12348)Ggg>Agg	p.G4116R	HMCN1_ENST00000367492.2_Missense_Mutation_p.G4116R	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4116	Ig-like C2-type 40.				response to stimulus|visual perception	basement membrane	calcium ion binding	p.G4116R(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GCATAAAGATGGGCGTGCAAT	0.512000													27	166					0	0	0.059317	0	0
UPB1	51733	broad.mit.edu	37	22	24909450	24909450	+	Missense_Mutation	SNP	C	C	A	rs138608016		TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr22:24909450C>A	ENST00000413389.2	+	5	2007	c.414C>A	c.(412-414)aaC>aaA	p.N138K	UPB1_ENST00000326010.5_Missense_Mutation_p.N206K			Q9UBR1	BUP1_HUMAN	ureidopropionase, beta	206	CN hydrolase.				pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	beta-ureidopropionase activity|metal ion binding	p.N206N(1)|p.N206K(1)		endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	22	Colorectal(2;0.0339)					GTGATTTCAACGAGGTGAGCC	0.512000													76	49					5.21738e-30	6.01759e-30	0.048971	1	0
F8	2157	broad.mit.edu	37	X	154124398	154124398	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chrX:154124398C>G	ENST00000360256.4	-	22	6583	c.6383G>C	c.(6382-6384)gGg>gCg	p.G2128A		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	2128	F5/8 type C 1.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	p.G2128A(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CCACTTCTTCCCATCAAGACT	0.413000													62	92					0	0	0.048971	0	0
PPFIA1	8500	broad.mit.edu	37	11	70172733	70172733	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr11:70172733G>C	ENST00000253925.7	+	7	954	c.739G>C	c.(739-741)Gaa>Caa	p.E247Q	PPFIA1_ENST00000389547.3_Missense_Mutation_p.E247Q|AP000487.6_ENST00000528607.1_RNA|CTA-797E19.2_ENST00000526017.1_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	247					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity	p.E247Q(1)		breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			AAGCCACGAGGAAGACCTTGC	0.398000													291	384					0	0	0.048971	0	0
TIAM1	7074	broad.mit.edu	37	21	32575277	32575277	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr21:32575277C>T	ENST00000286827.3	-	13	2911	c.2440G>A	c.(2440-2442)Gaa>Aaa	p.E814K	TIAM1_ENST00000541036.1_Intron	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	814	RBD.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	p.E814K(2)		autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						ATTTTGTTTTCTATTAGAAAT	0.378000													26	207					0	0	0.030593	0	0
NXPH2	11249	broad.mit.edu	37	2	139428761	139428761	+	Missense_Mutation	SNP	T	T	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr2:139428761T>A	ENST00000272641.3	-	2	632	c.526A>T	c.(526-528)Acc>Tcc	p.T176S		NM_007226.2	NP_009157.1	O95156	NXPH2_HUMAN	neurexophilin 2	176	IV (linker domain).				neuropeptide signaling pathway	extracellular region		p.T176S(1)|p.T176>?(1)		endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)|urinary_tract(3)	22				BRCA - Breast invasive adenocarcinoma(221;0.101)		GTCTCCAAGGTAGACTGGGGG	0.468000													10	38					0	0	0.069234	0	0
POLR3E	55718	broad.mit.edu	37	16	22337220	22337220	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr16:22337220G>A	ENST00000299853.5	+	18	1654	c.1487G>A	c.(1486-1488)cGg>cAg	p.R496Q	POLR3E_ENST00000564209.1_Missense_Mutation_p.R496Q|POLR3E_ENST00000418581.2_Missense_Mutation_p.R460Q|POLR3E_ENST00000359210.4_Missense_Mutation_p.R496Q	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN	polymerase (RNA) III (DNA directed) polypeptide E (80kD)	496					innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA-directed RNA polymerase activity	p.R496Q(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		CCCGGTGTGCGGATCAAGGAG	0.692000													9	22					0	0	0.047766	0	0
ALDOB	229	broad.mit.edu	37	9	104192127	104192127	+	Silent	SNP	G	G	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr9:104192127G>A	ENST00000374855.4	-	3	358	c.234C>T	c.(232-234)atC>atT	p.I78I	ALDOB_ENST00000468981.3_5'UTR	NM_000035.3	NP_000026.2	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate	78					fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|NADH oxidation|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly	centriolar satellite|cytosol	ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding	p.I78I(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				CGTGGAAAAGGATCACACCCC	0.517000													151	95					0	0	0.048971	0	0
ANO4	121601	broad.mit.edu	37	12	101510560	101510560	+	Missense_Mutation	SNP	C	C	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr12:101510560C>A	ENST00000392979.3	+	24	2810	c.2449C>A	c.(2449-2451)Cct>Act	p.P817T	ANO4_ENST00000550015.1_Missense_Mutation_p.P372T|ANO4_ENST00000392977.3_Missense_Mutation_p.P852T|ANO4_ENST00000299222.9_Missense_Mutation_p.P372T	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	852						chloride channel complex	chloride channel activity	p.P817T(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						CTCGGGGACTCCTCTTAAGTA	0.542000										HNSCC(74;0.22)			23	144					3.62473e-10	3.93902e-10	0.062417	1	0
LRGUK	136332	broad.mit.edu	37	7	133812300	133812300	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr7:133812300C>A	ENST00000285928.2	+	1	249	c.180C>A	c.(178-180)taC>taA	p.Y60*	LRGUK_ENST00000473068.1_3'UTR	NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	60							ATP binding|kinase activity	p.Y60*(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						CCTCCTCCTACCTGCTCCAGC	0.597000													26	154					1.17739e-12	1.32545e-12	0.108266	1	0
GOLGA2P9	440518	broad.mit.edu	37	19	22785606	22785606	+	RNA	SNP	C	C	G			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr19:22785606C>G	ENST00000600260.1	+	0	1613					NR_033899.1																						ACACTGCCCTCTCTCAGCCAG	0.667000													8	22					0	0	0.047766	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90161902	90161902	+	RNA	SNP	A	A	G	rs6500471	by1000genomes	TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr16:90161902A>G	ENST00000564451.1	+	0	1255				TUBB8P7_ENST00000567960.1_RNA														p.K213R(8)									ATATGTTCCAAGACCCTAAAA	0.537000													3	60					0	0	0.004672	0	0
TP53	7157	broad.mit.edu	37	17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	rs121912666		TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr17:7578190T>C	ENST00000420246.2	-	6	791	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_ENST00000413465.2_Missense_Mutation_p.Y220C|TP53_ENST00000359597.4_Missense_Mutation_p.Y220C|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000269305.4_Missense_Mutation_p.Y220C|TP53_ENST00000445888.2_Missense_Mutation_p.Y220C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	220	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AGGCGGCTCATAGGGCACCAC	0.557000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			31	17					0	0	0.050027	0	0
PLEKHG5	57449	broad.mit.edu	37	1	6528318	6528318	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr1:6528318G>A	ENST00000377748.1	-	21	3306	c.2809C>T	c.(2809-2811)Cgc>Tgc	p.R937C	PLEKHG5_ENST00000377740.3_Intron|PLEKHG5_ENST00000340850.5_Missense_Mutation_p.R860C|PLEKHG5_ENST00000377732.1_Missense_Mutation_p.R897C|PLEKHG5_ENST00000400915.3_Missense_Mutation_p.R916C|PLEKHG5_ENST00000377728.3_Missense_Mutation_p.R860C|PLEKHG5_ENST00000535355.1_Missense_Mutation_p.R929C|PLEKHG5_ENST00000377737.2_Missense_Mutation_p.R860C|PLEKHG5_ENST00000377725.1_Missense_Mutation_p.R860C|PLEKHG5_ENST00000400913.1_Missense_Mutation_p.R860C|PLEKHG5_ENST00000544978.1_Missense_Mutation_p.R860C|PLEKHG5_ENST00000537245.1_Missense_Mutation_p.R939C	NM_198681.3	NP_941374.2	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	916					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity	p.R937C(1)		liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		GGGGTGCGGCGGCGGAGACGG	0.677000													5	10					0	0	0.021553	0	0
TCF4	6925	broad.mit.edu	37	18	52946874	52946874	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr18:52946874G>C	ENST00000354452.3	-	9	1174	c.563C>G	c.(562-564)tCa>tGa	p.S188*	TCF4_ENST00000563760.1_5'UTR|TCF4_ENST00000543082.1_Nonsense_Mutation_p.S146*|TCF4_ENST00000567880.1_Nonsense_Mutation_p.S128*|TCF4_ENST00000537856.3_Nonsense_Mutation_p.S58*|TCF4_ENST00000544241.2_Nonsense_Mutation_p.S117*|TCF4_ENST00000564999.1_Nonsense_Mutation_p.S188*|TCF4_ENST00000537578.1_Nonsense_Mutation_p.S164*|TCF4_ENST00000568673.1_Nonsense_Mutation_p.S164*|TCF4_ENST00000564228.1_Nonsense_Mutation_p.S117*|TCF4_ENST00000398339.1_Nonsense_Mutation_p.S290*|TCF4_ENST00000568740.1_Nonsense_Mutation_p.S163*|TCF4_ENST00000570287.2_Nonsense_Mutation_p.S28*|TCF4_ENST00000566279.1_Nonsense_Mutation_p.S128*|TCF4_ENST00000565018.2_Nonsense_Mutation_p.S188*|TCF4_ENST00000561831.3_Nonsense_Mutation_p.S28*|TCF4_ENST00000561992.1_Nonsense_Mutation_p.S58*|TCF4_ENST00000457482.3_Nonsense_Mutation_p.S28*|TCF4_ENST00000564403.2_Nonsense_Mutation_p.S194*|TCF4_ENST00000566286.1_Nonsense_Mutation_p.S186*|TCF4_ENST00000540999.1_Nonsense_Mutation_p.S164*|TCF4_ENST00000356073.4_Nonsense_Mutation_p.S188*|TCF4_ENST00000570177.2_Nonsense_Mutation_p.S58*	NM_001083962.1	NP_001077431.1	P15884	ITF2_HUMAN	transcription factor 4	188					positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding	p.S188*(1)|p.S290*(1)		breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		AGTGCTTGCTGATGGAGCATA	0.478000													9	60					0	0	0.069234	0	0
AHNAK2	113146	broad.mit.edu	37	14	105419822	105419822	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr14:105419822G>A	ENST00000333244.5	-	7	2085	c.1966C>T	c.(1966-1968)Cgc>Tgc	p.R656C	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	656						nucleus		p.R656C(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TTTTTTAAGCGTTTTTCATCG	0.403000													74	350					0	0	0.048971	0	0
TMX3	54495	broad.mit.edu	37	18	66381117	66381117	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr18:66381117C>T	ENST00000299608.2	-	2	383	c.67G>A	c.(67-69)Gtc>Atc	p.V23I	TMX3_ENST00000443099.2_Missense_Mutation_p.V23I|TMX3_ENST00000562706.1_Missense_Mutation_p.V23I	NM_019022.3	NP_061895.3	Q96JJ7	TMX3_HUMAN	thioredoxin-related transmembrane protein 3	23					cell redox homeostasis|glycerol ether metabolic process	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	p.V23I(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	17						CCTTTACAGACGACCATATCA	0.294000													4	15					0	0	0.009096	0	0
LOC645752	645752	broad.mit.edu	37	15	78211648	78211648	+	RNA	SNP	A	A	G			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr15:78211648A>G	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							CGCCAGGGATAGGGGCTCAGC	0.522000													3	78					0	0	0.014758	0	0
SFRP4	6424	broad.mit.edu	37	7	37955842	37955842	+	Missense_Mutation	SNP	C	C	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr7:37955842C>A	ENST00000436072.2	-	1	675	c.298G>T	c.(298-300)Gtg>Ttg	p.V100L	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	100	FZ.				brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding	p.V100L(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						CGTTGGCACACCGACTTGCAC	0.627000													17	60					5.03518e-11	5.56832e-11	0.043863	1	0
PDE1C	5137	broad.mit.edu	37	7	31862705	31862705	+	Missense_Mutation	SNP	T	T	C			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr7:31862705T>C	ENST00000396184.3	-	15	1768	c.1564A>G	c.(1564-1566)Agg>Ggg	p.R522G	PDE1C_ENST00000396182.2_Missense_Mutation_p.R522G|PDE1C_ENST00000396193.1_Missense_Mutation_p.R582G|PDE1C_ENST00000396191.1_Missense_Mutation_p.R522G|PDE1C_ENST00000321453.7_Missense_Mutation_p.R522G	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	522					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.R522G(2)|p.R582G(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			ACCTTGGCCCTCCATCTCTCC	0.458000													35	170					0	0	0.074837	0	0
TRIM36	55521	broad.mit.edu	37	5	114469698	114469698	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr5:114469698C>G	ENST00000513154.1	-	8	1683	c.1357G>C	c.(1357-1359)Gag>Cag	p.E453Q	TRIM36_ENST00000282369.3_Missense_Mutation_p.E465Q|TRIM36_ENST00000514154.1_Missense_Mutation_p.E310Q			Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	465	Fibronectin type-III.					acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding	p.E465Q(1)		breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		ACTTCTATCTCATTCCATGAC	0.363000													14	62					0	0	0.020292	0	0
T	6862	broad.mit.edu	37	6	166571980	166571980	+	Silent	SNP	C	C	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr6:166571980C>A	ENST00000296946.2	-	9	1599	c.1131G>T	c.(1129-1131)cgG>cgT	p.R377R	T_ENST00000366871.3_Silent_p.R319R	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN	T, brachyury homolog (mouse)	377					anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity	p.R377R(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		CGGGGGAGCCCCGGAAGAACT	0.706000									Chordoma, Familial Clustering of				16	51					3.32936e-07	3.5164e-07	0.038395	1	0
C20orf96	140680	broad.mit.edu	37	20	256641	256641	+	Silent	SNP	G	G	C			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr20:256641G>C	ENST00000360321.2	-	10	1137	c.999C>G	c.(997-999)gtC>gtG	p.V333V	C20orf96_ENST00000382369.5_Silent_p.V298V	NM_080571.1|NM_153269.2	NP_542138.1|NP_695001.2	Q9NUD7	CT096_HUMAN	chromosome 20 open reading frame 96	333								p.V333V(1)		endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12		all_cancers(10;0.00959)|Lung NSC(37;0.227)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			CCTCAAATATGACCTCTCGGG	0.512000													18	80					0	0	0.038395	0	0
ZNF341	84905	broad.mit.edu	37	20	32336848	32336848	+	Silent	SNP	G	G	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr20:32336848G>A	ENST00000375200.1	+	4	824	c.459G>A	c.(457-459)caG>caA	p.Q153Q	ZNF341_ENST00000342427.2_Silent_p.Q153Q	NM_001282933.1	NP_001269862.1	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	153	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q153Q(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						CCCTGGACCAGCCCATGCCCC	0.572000													4	153					0	0	0.009096	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76569457	76569457	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr16:76569457G>A	ENST00000307431.8	+	19	3153	c.2768G>A	c.(2767-2769)aGa>aAa	p.R923K	CNTNAP4_ENST00000476707.1_Missense_Mutation_p.R927K|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.R851K|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.R875K|CNTNAP4_ENST00000469589.1_3'UTR	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	924	Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.R923K(1)|p.R851K(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						ACGGCCACCAGACAGAGAGGC	0.483000													18	77					0	0	0.043863	0	0
ANO6	196527	broad.mit.edu	37	12	45810576	45810576	+	Silent	SNP	C	C	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr12:45810576C>T	ENST00000320560.8	+	17	2308	c.2106C>T	c.(2104-2106)gaC>gaT	p.D702D	ANO6_ENST00000423947.3_Silent_p.D723D|ANO6_ENST00000425752.2_Silent_p.D702D|ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000441606.2_Silent_p.D684D|ANO6_ENST00000435642.1_Silent_p.D702D	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	702					activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity	p.D702D(2)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						TAAGAGTGGACGCATGGAAAC	0.483000													14	61					0	0	0.020292	0	0
AHNAK	79026	broad.mit.edu	37	11	62296133	62296133	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr11:62296133G>A	ENST00000378024.4	-	5	6030	c.5756C>T	c.(5755-5757)gCc>gTc	p.A1919V	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1919					nervous system development	nucleus	protein binding	p.A1919V(1)		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)				GATCTTGGGGGCCTTGAAGTG	0.507000													9	663					0	0	0.058154	0	0
BCAS3	54828	broad.mit.edu	37	17	58952079	58952079	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr17:58952079C>T	ENST00000589222.1	+	9	709	c.641C>T	c.(640-642)aCg>aTg	p.T214M	BCAS3_ENST00000408905.3_Missense_Mutation_p.T214M|BCAS3_ENST00000390652.5_Missense_Mutation_p.T214M|BCAS3_ENST00000407086.3_Missense_Mutation_p.T214M|BCAS3_ENST00000588462.1_Missense_Mutation_p.T214M			Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3	214						nucleus		p.T214M(1)		NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			TGTACTTTCACGAAGAAATTC	0.328000													10	51					0	0	0.080935	0	0
IGLV3-27	28791	broad.mit.edu	37	22	23011001	23011001	+	RNA	SNP	G	G	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr22:23011001G>T	ENST00000390304.2	+	0	102																											GGCCTCCTATGAGCTGACACA	0.557000													77	260					1.00246e-47	1.16335e-47	0.048971	1	0
DNM1	1759	broad.mit.edu	37	9	130984829	130984829	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr9:130984829G>A	ENST00000341179.7	+	8	1174	c.1082G>A	c.(1081-1083)cGc>cAc	p.R361H	DNM1_ENST00000475805.1_Missense_Mutation_p.R361H|DNM1_ENST00000372923.3_Missense_Mutation_p.R361H|DNM1_ENST00000486160.1_Missense_Mutation_p.R361H|DNM1_ENST00000393594.3_Missense_Mutation_p.R361H	NM_001005336.1	NP_001005336.1	Q05193	DYN1_HUMAN	dynamin 1	361					receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity	p.R361H(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						GGGGGAGCCCGCATTAACCGA	0.592000													4	162					0	0	0.014758	0	0
NLRP2	55655	broad.mit.edu	37	19	55493697	55493697	+	Silent	SNP	C	C	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr19:55493697C>T	ENST00000543010.1	+	6	774	c.631C>T	c.(631-633)Ctg>Ttg	p.L211L	NLRP2_ENST00000427260.2_Silent_p.L188L|NLRP2_ENST00000448584.2_Silent_p.L211L|NLRP2_ENST00000538819.1_Silent_p.L187L|NLRP2_ENST00000339757.7_Silent_p.L189L|NLRP2_ENST00000263437.6_Silent_p.L208L|NLRP2_ENST00000391721.4_Silent_p.L187L|NLRP2_ENST00000537859.1_Silent_p.L189L	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	211	NACHT.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	p.L211L(1)		large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		CACGGTGGTGCTGTATGGTCC	0.517000													63	125					0	0	0.048971	0	0
TELO2	9894	broad.mit.edu	37	16	1551483	1551483	+	Silent	SNP	C	C	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr16:1551483C>T	ENST00000262319.6	+	10	1623	c.1344C>T	c.(1342-1344)gaC>gaT	p.D448D		NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	448						chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding	p.D448D(1)		NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				CTGCGGGTGACGGCGCCTCGG	0.692000													11	5					0	0	0.105934	0	0
SLC38A2	54407	broad.mit.edu	37	12	46765071	46765071	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr12:46765071C>G	ENST00000256689.5	-	2	450	c.6G>C	c.(4-6)aaG>aaC	p.K2N	SLC38A2_ENST00000547252.1_5'UTR	NM_018976.4	NP_061849.2	Q96QD8	S38A2_HUMAN	solute carrier family 38, member 2	2	Regulates protein turnover upon amino acid deprivation (By similarity).				cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity	p.K2N(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	18	Lung SC(27;0.192)|Renal(347;0.236)		OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)		TTTCGGCCTTCTTCATGCTAA	0.577000													47	136					0	0	0.048971	0	0
AHNAK	79026	broad.mit.edu	37	11	62289475	62289475	+	Silent	SNP	C	C	G			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr11:62289475C>G	ENST00000378024.4	-	5	12688	c.12414G>C	c.(12412-12414)ctG>ctC	p.L4138L	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4138					nervous system development	nucleus	protein binding	p.L4138L(1)		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)				TTGGACCTTTCAGATTCAGGT	0.517000													45	329					0	0	0.045515	0	0
WIF1	11197	broad.mit.edu	37	12	65448985	65448985	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr12:65448985C>T	ENST00000286574.4	-	9	1305	c.931G>A	c.(931-933)Gag>Aag	p.E311K		NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	WNT inhibitory factor 1	311	EGF-like 5.				multicellular organismal development|Wnt receptor signaling pathway	extracellular region	protein tyrosine kinase activity	p.E311K(2)		cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		CAGCCAGGCTCGCAGACAGCT	0.413000			T	HMGA2	pleomorphic salivary gland adenoma								16	89					0	0	0.024245	0	0
GPR98	84059	broad.mit.edu	37	5	89985850	89985850	+	Silent	SNP	A	A	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr5:89985850A>T	ENST00000405460.2	+	30	6759	c.6663A>T	c.(6661-6663)gcA>gcT	p.A2221A		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2221					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.A2221A(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TAACAGAGGCAGTCATTATTA	0.378000													4	12					0	0	0.021553	0	0
ZNF813	126017	broad.mit.edu	37	19	53994369	53994369	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr19:53994369G>T	ENST00000396403.4	+	4	1011	c.883G>T	c.(883-885)Gga>Tga	p.G295*	ZNF813_ENST00000396421.4_Intron	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	295					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G295*(1)		large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		ACTTCATACTGGAGAGAAACC	0.398000													19	119					1.01871e-10	1.11999e-10	0.049695	1	0
BAGE2	85319	broad.mit.edu	37	21	11039272	11039272	+	RNA	SNP	C	C	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr21:11039272C>T	ENST00000470054.1	-	0	931									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GTTGCTCTTGCTGCACAGTGA	0.398000													26	589					0	0	0.099896	0	0
NPIPB6	728741	broad.mit.edu	37	16	28354353	28354353	+	Missense_Mutation	SNP	T	T	G	rs1794256	by1000genomes	TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr16:28354353T>G	ENST00000532254.1	-	7	1538	c.853A>C	c.(853-855)Act>Cct	p.T285P	NPIPB6_ENST00000533640.1_Missense_Mutation_p.T267P	NM_001282524.1	NP_001269453.1			nuclear pore complex interacting protein family, member B6									p.T285P(4)									AGACACTCAGTAGGTGTCTTG	0.507000													3	117					0	0	0.029380	0	0
ATP8B2	57198	broad.mit.edu	37	1	154321468	154321468	+	Silent	SNP	G	G	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr1:154321468G>T	ENST00000368489.3	+	28	3546	c.3546G>T	c.(3544-3546)ctG>ctT	p.L1182L		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	1168					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.L1182L(1)	IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			ACATGCGGCTGAGCTCTCTCG	0.647000													24	101					2.98393e-07	3.16937e-07	0.076483	1	0
ZNF555	148254	broad.mit.edu	37	19	2852822	2852822	+	Silent	SNP	G	G	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr19:2852822G>A	ENST00000334241.4	+	4	897	c.759G>A	c.(757-759)gaG>gaA	p.E253E	ZNF555_ENST00000591539.1_Silent_p.E252E|AC006130.3_ENST00000589365.1_RNA	NM_001172775.1|NM_152791.4	NP_001166246.1|NP_690004.4	Q8NEP9	ZN555_HUMAN	zinc finger protein 555	253					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E253E(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACACCGGAGAGAAGCCATATA	0.413000													12	64					0	0	0.093190	0	0
EIF2B1	1967	broad.mit.edu	37	12	124109399	124109399	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr12:124109399C>A	ENST00000424014.2	-	7	770	c.562G>T	c.(562-564)Gag>Tag	p.E188*	EIF2B1_ENST00000539951.1_Intron	NM_001414.3	NP_001405.1	Q14232	EI2BA_HUMAN	eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa	188					cellular response to stimulus|oligodendrocyte development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex|membrane fraction|plasma membrane	protein binding|translation initiation factor activity	p.E188*(1)		breast(1)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.67e-05)|Epithelial(86;0.000353)|all cancers(50;0.00489)		TCTGCTTTCTCCATGATGTAG	0.393000													17	74					4.35082e-09	4.70088e-09	0.055883	1	0
ITSN1	6453	broad.mit.edu	37	21	35255954	35255954	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr21:35255954G>A	ENST00000381318.3	+	36	4943	c.4655G>A	c.(4654-4656)cGa>cAa	p.R1552Q	ITSN1_ENST00000381285.4_Missense_Mutation_p.R1552Q|ITSN1_ENST00000437442.2_Missense_Mutation_p.R1491Q|ITSN1_ENST00000399367.3_Missense_Mutation_p.R1547Q|ITSN1_ENST00000399326.3_3'UTR|AP000304.12_ENST00000429238.1_Intron	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1552	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity	p.R1552Q(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						TATACTCTCCGAGCAGAAAGC	0.537000													29	199					0	0	0.037714	0	0
DSCAML1	57453	broad.mit.edu	37	11	117321323	117321323	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr11:117321323G>A	ENST00000321322.6	-	20	3831	c.3830C>T	c.(3829-3831)cCc>cTc	p.P1277L	DSCAML1_ENST00000527706.1_Missense_Mutation_p.P1007L	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1217	Fibronectin type-III 4.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	p.P1277L(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CACCCCGTTGGGCTTGGTAGG	0.582000													16	114					0	0	0.024245	0	0
IMP4	92856	broad.mit.edu	37	2	131103630	131103630	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr2:131103630G>C	ENST00000259239.3	+	7	1342	c.634G>C	c.(634-636)Gat>Cat	p.D212H	IMP4_ENST00000409935.1_Missense_Mutation_p.D212H	NM_033416.1	NP_219484.1	Q96G21	IMP4_HUMAN	IMP4, U3 small nucleolar ribonucleoprotein, homolog (yeast)	212	Brix.				rRNA processing|translation	nucleolus|ribonucleoprotein complex	aminoacyl-tRNA ligase activity|ATP binding|protein binding	p.D212H(1)		central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	18	Colorectal(110;0.1)					CGTGCCCAAAGATGACAGCCA	0.592000													18	89					0	0	0.038395	0	0
ARHGEF5	7984	broad.mit.edu	37	7	144062382	144062382	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr7:144062382G>A	ENST00000056217.5	+	2	2794	c.2620G>A	c.(2620-2622)Ggt>Agt	p.G874S		NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	874					intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity	p.G874S(1)		breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					GAACTCAGGGGGTCATGCCAA	0.612000													74	140					0	0	0.048971	0	0
PHKA1	5255	broad.mit.edu	37	X	71839145	71839145	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chrX:71839145C>T	ENST00000373545.3	-	19	2409	c.1971G>A	c.(1969-1971)atG>atA	p.M657I	PHKA1_ENST00000373542.4_Missense_Mutation_p.M716I|PHKA1_ENST00000339490.3_Missense_Mutation_p.M716I|PHKA1_ENST00000541944.1_Missense_Mutation_p.M657I|PHKA1_ENST00000373539.3_Missense_Mutation_p.M716I			P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	662					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	p.M716I(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					TAGGAAGATACATGTGAACAT	0.388000													10	4					0	0	0.069234	0	0
KCNU1	157855	broad.mit.edu	37	8	36793051	36793051	+	Silent	SNP	A	A	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr8:36793051A>T	ENST00000399881.3	+	27	3100	c.3063A>T	c.(3061-3063)ccA>ccT	p.P1021P		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	1021						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	p.P1021P(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TCACCCGGCCAGCCAATGAGT	0.458000													71	103					0	0	0.048971	0	0
MAPKAPK3	7867	broad.mit.edu	37	3	50685381	50685381	+	Silent	SNP	C	C	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr3:50685381C>T	ENST00000446044.1	+	13	1649	c.1053C>T	c.(1051-1053)atC>atT	p.I351I	MAPKAPK3_ENST00000357955.2_Silent_p.I351I	NM_001243926.1	NP_001230855.1	Q16644	MAPK3_HUMAN	mitogen-activated protein kinase-activated protein kinase 3	351					activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity	p.I351I(1)		central_nervous_system(1)|ovary(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)		AGGTGAAGATCAAGGACCTGA	0.552000													42	147					0	0	0.098360	0	0
POP1	10940	broad.mit.edu	37	8	99168597	99168597	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr8:99168597G>A	ENST00000401707.2	+	15	2458	c.2377G>A	c.(2377-2379)Gaa>Aaa	p.E793K	POP1_ENST00000349693.3_Missense_Mutation_p.E793K	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	793					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity	p.E793K(1)		autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			GGAGGCCAGTGAAAACCATGT	0.512000													35	216					0	0	0.069456	0	0
RCSD1	92241	broad.mit.edu	37	1	167666699	167666699	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr1:167666699G>A	ENST00000367854.3	+	6	1169	c.838G>A	c.(838-840)Gag>Aag	p.E280K	RCSD1_ENST00000537350.1_Missense_Mutation_p.E250K	NM_052862.3	NP_443094.3	Q6JBY9	CPZIP_HUMAN	RCSD domain containing 1	280	RCSD.							p.E280K(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					GGCCCAAGAGGAGGTCCCGGA	0.612000													10	69					0	0	0.069234	0	0
DNAJB11	51726	broad.mit.edu	37	3	186299223	186299223	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr3:186299223G>C	ENST00000439351.1	+	6	1449	c.520G>C	c.(520-522)Gag>Cag	p.E174Q	DNAJB11_ENST00000265028.3_Missense_Mutation_p.E174Q			Q9UBS4	DJB11_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 11	174					protein folding	endoplasmic reticulum lumen	heat shock protein binding	p.E174Q(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2)	15	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)		TTGTCGGCAAGAGATGCGGAC	0.517000													31	139					0	0	0.069456	0	0
ZNF285	26974	broad.mit.edu	37	19	44891096	44891096	+	Silent	SNP	G	G	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr19:44891096G>A	ENST00000330997.4	-	4	1375	c.1311C>T	c.(1309-1311)ttC>ttT	p.F437F	ZNF285_ENST00000544719.2_Silent_p.F437F|ZNF285_ENST00000591679.1_Silent_p.F444F|CTC-512J12.6_ENST00000588212.1_Intron	NM_152354.3	NP_689567.3			zinc finger protein 285									p.F437F(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						TACATTGGCTGAAGCCCTTTC	0.473000													21	109					0	0	0.055883	0	0
PPP6R3	55291	broad.mit.edu	37	11	68331848	68331848	+	Missense_Mutation	SNP	C	C	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr11:68331848C>A	ENST00000393799.2	+	9	1190	c.923C>A	c.(922-924)gCc>gAc	p.A308D	PPP6R3_ENST00000265636.5_Missense_Mutation_p.A308D|PPP6R3_ENST00000534534.1_Intron|PPP6R3_ENST00000265637.4_Missense_Mutation_p.A308D|PPP6R3_ENST00000524904.1_Missense_Mutation_p.A308D|PPP6R3_ENST00000393801.3_Missense_Mutation_p.A308D|PPP6R3_ENST00000529710.1_Missense_Mutation_p.A308D|PPP6R3_ENST00000527403.2_Missense_Mutation_p.A308D|PPP6R3_ENST00000524845.1_Missense_Mutation_p.A308D|PPP6R3_ENST00000393800.2_Missense_Mutation_p.A308D			Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	308					regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding	p.A308D(2)		breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						GTTCTAGAAGCCATCAGAGGA	0.458000													9	240					1.08611e-07	1.16016e-07	0.080935	1	0
USP43	124739	broad.mit.edu	37	17	9631804	9631804	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr17:9631804G>T	ENST00000285199.7	+	15	2965	c.2869G>T	c.(2869-2871)Gag>Tag	p.E957*	USP43_ENST00000570475.1_Nonsense_Mutation_p.E952*|USP43_ENST00000570827.2_3'UTR	NM_001267576.1|NM_153210.4	NP_001254505.1|NP_694942.3	Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43						ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	p.E958*(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						GAACTGGAAGGAGAGCTTCCA	0.552000													12	28					9.05144e-12	1.00691e-11	0.105934	1	0
SPAG17	200162	broad.mit.edu	37	1	118628687	118628687	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr1:118628687C>G	ENST00000336338.5	-	13	1685	c.1620G>C	c.(1618-1620)aaG>aaC	p.K540N		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	540						cilium|flagellar axoneme|microtubule		p.K540N(1)		NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		GATCAAAATTCTTTTGGTCCT	0.423000													27	60					0	0	0.034045	0	0
OR5B21	219968	broad.mit.edu	37	11	58275356	58275356	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr11:58275356C>T	ENST00000360374.2	-	1	222	c.223G>A	c.(223-225)Gta>Ata	p.V75I		NM_001005218.1	NP_001005218.1	A6NL26	OR5BL_HUMAN	olfactory receptor, family 5, subfamily B, member 21	75					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V75I(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TTGGGGGCTACAGCTGATGAG	0.512000													15	71					0	0	0.024245	0	0
KCNH1	3756	broad.mit.edu	37	1	211276926	211276926	+	Silent	SNP	C	C	G			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr1:211276926C>G	ENST00000367007.4	-	3	391	c.222G>C	c.(220-222)ctG>ctC	p.L74L	KCNH1_ENST00000271751.4_Silent_p.L74L	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	74	PAS.				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity	p.L74L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		CTTTATCAGTCAGCTCCCCAT	0.328000													17	72					0	0	0.033300	0	0
SLMAP	7871	broad.mit.edu	37	3	57827025	57827025	+	Splice_Site	SNP	G	G	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr3:57827025G>A	ENST00000383718.3	+	3	444		c.e3-1		SLMAP_ENST00000416870.1_Splice_Site|SLMAP_ENST00000295952.3_Splice_Site|SLMAP_ENST00000428312.1_Splice_Site|SLMAP_ENST00000449503.2_Splice_Site|SLMAP_ENST00000295951.3_Splice_Site			Q14BN4	SLMAP_HUMAN	sarcolemma associated protein						muscle contraction|protein folding	integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum	unfolded protein binding	p.?(1)		endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2)	18				BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)		GTTTCAACCAGTTACCCATGG	0.318000													51	20					0	0	0.048971	0	0
GTF3C3	9330	broad.mit.edu	37	2	197650253	197650253	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr2:197650253G>C	ENST00000263956.3	-	7	1042	c.953C>G	c.(952-954)tCa>tGa	p.S318*	GTF3C3_ENST00000470386.1_5'UTR|GTF3C3_ENST00000409364.3_Nonsense_Mutation_p.S318*	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	318						transcription factor TFIIIC complex	DNA binding|protein binding	p.S318*(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						CTGGTGTTTTGAGAAAGCTTC	0.343000													11	48					0	0	0.080935	0	0
DACH1	1602	broad.mit.edu	37	13	72049858	72049858	+	Missense_Mutation	SNP	T	T	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr13:72049858T>A	ENST00000305425.4	-	9	2422	c.2000A>T	c.(1999-2001)gAt>gTt	p.D667V	DACH1_ENST00000354591.4_Missense_Mutation_p.D465V|DACH1_ENST00000313174.7_Missense_Mutation_p.D519V|DACH1_ENST00000359684.2_Missense_Mutation_p.D719V	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN	dachshund homolog 1 (Drosophila)	717	DACHbox-C.|Interaction with SIN3A (By similarity).				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding	p.D667V(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		CCTGAGACTATCTGTTGAAGC	0.393000													106	80					0	0	0.048971	0	0
FAT4	79633	broad.mit.edu	37	4	126336800	126336800	+	Missense_Mutation	SNP	A	A	C			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr4:126336800A>C	ENST00000394329.3	+	5	6695	c.6682A>C	c.(6682-6684)Act>Cct	p.T2228P	FAT4_ENST00000335110.5_Missense_Mutation_p.T526P	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2228	Cadherin 21.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.T2228P(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CTACCATTTAACTGTTCAGGC	0.438000													25	121					0	0	0.099896	0	0
MCPH1	79648	broad.mit.edu	37	8	6357451	6357451	+	Splice_Site	SNP	G	G	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr8:6357451G>A	ENST00000344683.5	+	12	2290		c.e12+1		ANGPT2_ENST00000325203.5_3'UTR|ANGPT2_ENST00000415216.1_3'UTR	NM_024596.3	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin 1							microtubule organizing center		p.?(1)	AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		TGCAGCTCCCGTAAGTCAGAT	0.428000													15	50					0	0	0.020292	0	0
DYRK4	8798	broad.mit.edu	37	12	4708904	4708904	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr12:4708904C>G	ENST00000540757.2	+	8	891	c.731C>G	c.(730-732)gCc>gGc	p.A244G	DYRK4_ENST00000010132.5_Missense_Mutation_p.A244G|DYRK4_ENST00000543431.1_Missense_Mutation_p.A244G	NM_001282285.1|NM_001282286.1|NM_003845.1	NP_001269214.1|NP_001269215.1|NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	244	Protein kinase.					Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.A646G(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			AAGGGCCAAGCCTCTGTTAAA	0.428000													18	80					0	0	0.038395	0	0
ZNF644	84146	broad.mit.edu	37	1	91406112	91406112	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr1:91406112G>C	ENST00000370440.1	-	3	1016	c.799C>G	c.(799-801)Caa>Gaa	p.Q267E	ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000337393.5_Missense_Mutation_p.Q267E|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000347275.5_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	267					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q267E(1)		breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		ATAAGAAATTGAATGAACTCT	0.348000													30	122					0	0	0.034045	0	0
PCDHA1	56147	broad.mit.edu	37	5	140167231	140167231	+	Silent	SNP	G	G	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr5:140167231G>A	ENST00000504120.2	+	1	1356	c.1356G>A	c.(1354-1356)gcG>gcA	p.A452A	PCDHA1_ENST00000378133.3_Silent_p.A452A|PCDHA1_ENST00000394633.3_Silent_p.A452A	NM_018900.2	NP_061723.1												p.A452A(2)		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)			ATGACAACGCGCCTGCGTTCG	0.682000													40	147					0	0	0.104719	0	0
TACC2	10579	broad.mit.edu	37	10	123843281	123843281	+	Silent	SNP	C	C	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr10:123843281C>T	ENST00000369005.1	+	4	1606	c.1266C>T	c.(1264-1266)ctC>ctT	p.L422L	TACC2_ENST00000453444.2_Silent_p.L422L|TACC2_ENST00000515603.1_Silent_p.L422L|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515273.1_Silent_p.L422L|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000334433.3_Silent_p.L422L	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	422						microtubule organizing center|nucleus	nuclear hormone receptor binding	p.L422L(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CTTCAAGCCTCGCTTCATTCC	0.557000													42	109					0	0	0.048971	0	0
HIST2H2BF	440689	broad.mit.edu	37	1	149783666	149783666	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr1:149783666G>C	ENST00000427880.2	-	1	259	c.213C>G	c.(211-213)ttC>ttG	p.F71L	HIST2H2BF_ENST00000469483.1_5'UTR|HIST2H2BF_ENST00000545683.1_Missense_Mutation_p.F71L|HIST2H2BF_ENST00000369167.1_Missense_Mutation_p.F71L			Q5QNW6	H2B2F_HUMAN	histone cluster 2, H2bf	71					nucleosome assembly	nucleosome|nucleus	DNA binding	p.F71L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Breast(34;0.0124)|all_hematologic(923;0.127)					CGATGCGCTCGAAGATGTCGT	0.627000													41	262					0	0	0.048971	0	0
HYI	81888	broad.mit.edu	37	1	43917930	43917930	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr1:43917930C>G	ENST00000583037.1	-	3	567	c.153G>C	c.(151-153)gaG>gaC	p.E51D	HYI_ENST00000372434.1_Missense_Mutation_p.E149D|HYI_ENST00000372426.1_Missense_Mutation_p.E76D|HYI_ENST00000372432.1_Missense_Mutation_p.E124D|SZT2_ENST00000372442.1_3'UTR|HYI_ENST00000486909.1_Missense_Mutation_p.E124D|HYI_ENST00000372425.4_Missense_Mutation_p.E124D|SZT2_ENST00000562955.1_3'UTR	NM_001190880.2	NP_001177809.1	Q5T013	HYI_HUMAN	hydroxypyruvate isomerase (putative)	124							hydroxypyruvate isomerase activity	p.E51D(1)|p.E124D(1)		large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2)	6	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CGGCCTCCATCTCAGCCTTGA	0.562000													7	27					0	0	0.029380	0	0
BRMS1	25855	broad.mit.edu	37	11	66105149	66105149	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr11:66105149G>C	ENST00000425825.2	-	10	1017	c.863C>G	c.(862-864)cCg>cGg	p.P288R	BRMS1_ENST00000359957.3_3'UTR|RP11-867G23.12_ENST00000526655.1_RNA	NM_001024957.1	NP_001020128.1	Q9HCU9	BRMS1_HUMAN	breast cancer metastasis suppressor 1	0					apoptosis|negative regulation of anti-apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of anoikis|positive regulation of protein deacetylation|transcription, DNA-dependent	cytoplasm|nucleus	NF-kappaB binding	p.P288R(1)		large_intestine(1)|liver(1)|lung(1)|prostate(1)|skin(1)	5						TCAGCTCCACGGCCACAGCTG	0.662000													13	17					0	0	0.093190	0	0
SEC31A	22872	broad.mit.edu	37	4	83776177	83776177	+	Silent	SNP	G	G	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr4:83776177G>A	ENST00000432794.1	-	17	2050	c.1887C>T	c.(1885-1887)atC>atT	p.I629I	SEC31A_ENST00000508502.1_Silent_p.I629I|SEC31A_ENST00000505984.1_Silent_p.I590I|SEC31A_ENST00000505472.1_Silent_p.I629I|SEC31A_ENST00000508479.1_Silent_p.I629I|SEC31A_ENST00000311785.7_Silent_p.I629I|SEC31A_ENST00000326950.5_Silent_p.I590I|SEC31A_ENST00000448323.1_Silent_p.I629I|SEC31A_ENST00000264405.5_Silent_p.I362I|SEC31A_ENST00000395310.2_Silent_p.I629I|SEC31A_ENST00000513858.1_Silent_p.I590I|SEC31A_ENST00000509142.1_Silent_p.I629I|SEC31A_ENST00000355196.2_Silent_p.I629I|SEC31A_ENST00000348405.4_Silent_p.I590I|SEC31A_ENST00000500777.2_Silent_p.I590I|SEC31A_ENST00000443462.2_Silent_p.I624I			O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	629					COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding	p.I629I(2)	SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				CCACTGCAGTGATGAGCTTGA	0.348000													7	34					0	0	0.029380	0	0
NUDT14	256281	broad.mit.edu	37	14	105644073	105644073	+	Splice_Site	SNP	C	C	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr14:105644073C>T	ENST00000392568.2	-	2	175		c.e2-1		RP11-44N21.4_ENST00000548203.1_RNA	NM_177533.4	NP_803877.2	O95848	NUD14_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 14							cytoplasm	metal ion binding|protein binding|UDP-sugar diphosphatase activity	p.?(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)		GGGCACCATTCTAGAAGGGGC	0.617000										HNSCC(42;0.11)			50	159					0	0	0.048971	0	0
SCNN1B	6338	broad.mit.edu	37	16	23387131	23387131	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr16:23387131C>T	ENST00000343070.2	+	8	1401	c.1225C>T	c.(1225-1227)Ccc>Tcc	p.P409S	SCNN1B_ENST00000307331.5_Missense_Mutation_p.P454S|SCNN1B_ENST00000568923.1_Missense_Mutation_p.P382S|SCNN1B_ENST00000568085.1_Missense_Mutation_p.P373S	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	409					excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding	p.P409S(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	GTACCCACTGCCCCGTGGGGA	0.617000													4	169					0	0	0.009096	0	0
CRNKL1	51340	broad.mit.edu	37	20	20026049	20026049	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr20:20026049C>T	ENST00000377340.2	-	7	1218	c.1187G>A	c.(1186-1188)cGg>cAg	p.R396Q	CRNKL1_ENST00000377327.4_Missense_Mutation_p.R384Q|CRNKL1_ENST00000536226.1_Missense_Mutation_p.R235Q	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	396					spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding	p.R396L(1)|p.R396Q(1)		breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						ATACACTTTCCGTGCATGGGC	0.418000													44	190					0	0	0.104719	0	0
FKBP5	2289	broad.mit.edu	37	6	35554818	35554818	+	Missense_Mutation	SNP	T	T	C	rs61753297		TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr6:35554818T>C	ENST00000542713.1	-	7	899	c.742A>G	c.(742-744)Act>Gct	p.T248A	FKBP5_ENST00000536438.1_Missense_Mutation_p.Y278C|FKBP5_ENST00000539068.1_Missense_Mutation_p.Y278C|FKBP5_ENST00000540787.1_Missense_Mutation_p.Y99C|FKBP5_ENST00000357266.4_Missense_Mutation_p.Y278C	NM_001145777.1	NP_001139249.1	Q13451	FKBP5_HUMAN	FK506 binding protein 5	0					protein folding	cytoplasm|membrane|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity	p.Y278C(1)|p.T248A(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2)	17						CACCTTGAAGTATACGGTTCC	0.408000													95	91					0	0	0.048971	0	0
MCM3AP	8888	broad.mit.edu	37	21	47674341	47674341	+	Silent	SNP	C	C	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr21:47674341C>T	ENST00000397708.1	-	20	4355	c.4101G>A	c.(4099-4101)ccG>ccA	p.P1367P	MCM3AP_ENST00000291688.1_Silent_p.P1367P|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000590829.1_RNA			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	1367					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	p.P1367P(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					CCTCTACATCCGGCAACACCA	0.617000													9	153					0	0	0.047766	0	0
FLG	2312	broad.mit.edu	37	1	152276103	152276103	+	Missense_Mutation	SNP	C	C	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr1:152276103C>A	ENST00000368799.1	-	3	11294	c.11259G>T	c.(11257-11259)gaG>gaT	p.E3753D	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3753	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.E3753D(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTCCTGACCCTCTTGGGACG	0.617000									Ichthyosis				155	941					6.42063e-57	7.49074e-57	0.048971	1	0
TGM2	7052	broad.mit.edu	37	20	36758657	36758657	+	Silent	SNP	C	C	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr20:36758657C>T	ENST00000361475.2	-	13	2201	c.2028G>A	c.(2026-2028)gtG>gtA	p.V676V	TGM2_ENST00000536724.1_Silent_p.V616V|TGM2_ENST00000536701.1_Silent_p.V595V	NM_004613.2|NM_198951.1	NP_004604.2|NP_945189.1	P21980	TGM2_HUMAN	transglutaminase 2	676					apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity	p.V676V(1)		endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	GGAAGCCCTTCACAGCCTTCA	0.587000													4	31					0	0	0.009096	0	0
SCAPER	49855	broad.mit.edu	37	15	77025725	77025725	+	Splice_Site	SNP	C	C	G			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr15:77025725C>G	ENST00000538941.2	-	16	2068	c.1129G>C	c.(1129-1131)Gta>Cta	p.V377L	SCAPER_ENST00000563290.1_Splice_Site_p.V623L|SCAPER_ENST00000324767.7_Splice_Site_p.V623L	NM_001145923.1	NP_001139395.1	Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	622						endoplasmic reticulum|nucleus	zinc ion binding	p.V623L(1)		NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						ATTTCATTTACCTTTAAAAAA	0.348000													7	63					0	0	0.029380	0	0
LRRC29	26231	broad.mit.edu	37	16	67242311	67242311	+	Silent	SNP	A	A	G			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr16:67242311A>G	ENST00000409037.1	-	2	1085	c.189T>C	c.(187-189)tgT>tgC	p.C63C	LRRC29_ENST00000393992.1_Silent_p.C63C|LRRC29_ENST00000409509.1_Silent_p.C63C|LRRC29_ENST00000341546.3_Silent_p.C63C			Q8WV35	LRC29_HUMAN	leucine rich repeat containing 29	63								p.C63C(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(1)|lung(2)|urinary_tract(1)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		GTGGCTCTGGACAGGCGTCCT	0.592000													3	187					0	0	0.004672	0	0
TRPM5	29850	broad.mit.edu	37	11	2439011	2439011	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr11:2439011C>G	ENST00000452833.1	-	7	969	c.961G>C	c.(961-963)Gag>Cag	p.E321Q	TRPM5_ENST00000528453.1_Missense_Mutation_p.E319Q|TRPM5_ENST00000155858.6_Missense_Mutation_p.E319Q|TRPM5_ENST00000533060.1_Missense_Mutation_p.E319Q			Q9NZQ8	TRPM5_HUMAN	transient receptor potential cation channel, subfamily M, member 5	319						integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity	p.E319Q(1)		breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		CCCTCCTGCTCGAAGTCATAC	0.662000													5	18					0	0	0.029380	0	0
SVIL	6840	broad.mit.edu	37	10	29777621	29777621	+	Silent	SNP	G	G	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr10:29777621G>A	ENST00000375398.2	-	25	4706	c.4257C>T	c.(4255-4257)agC>agT	p.S1419S	SVIL_ENST00000375400.3_Silent_p.S993S|SVIL_ENST00000355867.4_Silent_p.S1419S|SVIL_ENST00000538146.1_Silent_p.S211S|SVIL_ENST00000535393.1_Silent_p.S333S			O95425	SVIL_HUMAN	supervillin	1419	Interaction with NEB.				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	p.S1419S(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				GGCTGACGTTGCTGAAGTTTT	0.507000													10	35					0	0	0.080935	0	0
ANK2	287	broad.mit.edu	37	4	114290876	114290876	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr4:114290876G>A	ENST00000357077.4	+	43	11578	c.11525G>A	c.(11524-11526)cGg>cAg	p.R3842Q	ANK2_ENST00000509550.1_Missense_Mutation_p.R933Q|ANK2_ENST00000510275.2_Missense_Mutation_p.R409Q|ANK2_ENST00000506722.1_Missense_Mutation_p.R1748Q|ANK2_ENST00000394537.3_Missense_Mutation_p.R1757Q|ANK2_ENST00000264366.6_Missense_Mutation_p.R3809Q	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3809					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	p.R3842Q(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AGCTCTCCGCGGAAAACCAGC	0.532000													11	68					0	0	0.080935	0	0
AP1B1	162	broad.mit.edu	37	22	29730359	29730359	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr22:29730359G>C	ENST00000357586.2	-	17	2390	c.2204C>G	c.(2203-2205)tCa>tGa	p.S735*	AP1B1_ENST00000415447.1_Nonsense_Mutation_p.S728*|AP1B1_ENST00000356015.2_Nonsense_Mutation_p.S728*|AP1B1_ENST00000402502.1_Nonsense_Mutation_p.S728*|AP1B1_ENST00000432560.2_Nonsense_Mutation_p.S728*|AP1B1_ENST00000472057.1_5'UTR|AP1B1_ENST00000317368.7_Intron|AP1B1_ENST00000405198.1_Nonsense_Mutation_p.S735*	NM_001127.3	NP_001118	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	735					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity	p.S735*(1)		endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GAAGGTGCCTGAGATCTCCAG	0.617000													13	37					0	0	0.093190	0	0
CD300LF	146722	broad.mit.edu	37	17	72691301	72691301	+	Silent	SNP	G	G	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr17:72691301G>A	ENST00000326165.6	-	7	918	c.807C>T	c.(805-807)ctC>ctT	p.L269L	CD300LF_ENST00000301573.9_3'UTR|CD300LF_ENST00000464910.1_Silent_p.L272L|RAB37_ENST00000340415.3_Intron|CD300LF_ENST00000469092.1_3'UTR|CD300LF_ENST00000583937.1_Silent_p.L284L|RAB37_ENST00000402449.4_Intron|CD300LF_ENST00000361254.4_3'UTR|CD300LF_ENST00000343125.4_3'UTR	NM_139018.3	NP_620587.2	Q8TDQ1	CLM1_HUMAN	CD300 molecule-like family member f	269						integral to membrane|plasma membrane	receptor activity	p.L269L(2)		endometrium(2)|large_intestine(1)|lung(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						GGTGGCTACTGAGGTGGCCCA	0.602000													26	90					0	0	0.030593	0	0
ZNF99	7652	broad.mit.edu	37	19	22939544	22939544	+	Missense_Mutation	SNP	A	A	C	rs58378942		TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr19:22939544A>C	ENST00000397104.3	-	7	2626	c.2627T>G	c.(2626-2628)aTg>aGg	p.M876R						zinc finger protein 99									p.M876R(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				CTTATGTTTCATAAGGGTTGA	0.343000													3	69					0	0	0.004672	0	0
HLA-A	3105	broad.mit.edu	37	6	29911314	29911314	+	Missense_Mutation	SNP	C	C	T	rs66792072		TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr6:29911314C>T	ENST00000396634.1	+	5	954	c.613C>T	c.(613-615)Cgc>Tgc	p.R205C	HLA-A_ENST00000376802.2_Missense_Mutation_p.R205C|HLA-A_ENST00000376809.5_Missense_Mutation_p.R205C|HLA-A_ENST00000376806.5_Missense_Mutation_p.R205C			P30443	1A01_HUMAN	major histocompatibility complex, class I, A	205	Alpha-2.		R -> H (in dbSNP:rs17185861).		antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	p.R205C(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						GACGCTGCAGCGCACGGGTAC	0.652000									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			8	80					0	0	0.047766	0	0
DOCK9	23348	broad.mit.edu	37	13	99520199	99520199	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr13:99520199C>T	ENST00000376460.1	-	29	3237	c.3157G>A	c.(3157-3159)Gct>Act	p.A1053T	DOCK9_ENST00000442173.1_Missense_Mutation_p.A1053T|DOCK9_ENST00000448493.2_Missense_Mutation_p.A1065T|DOCK9_ENST00000339416.2_Missense_Mutation_p.A1054T	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	1054					blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	p.A1053T(1)|p.A1065T(1)|p.A1054T(1)		breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TCTCCAGGAGCAAAACAGCTA	0.403000													6	21					0	0	0.047766	0	0
ZNF516	9658	broad.mit.edu	37	18	74153297	74153297	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr18:74153297C>T	ENST00000443185.2	-	3	2031	c.1714G>A	c.(1714-1716)Ggc>Agc	p.G572S	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	572					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G572S(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		CAGGCGGAGCCAGGGCTGCTG	0.736000													6	15					0	0	0.029380	0	0
MRPL35	51318	broad.mit.edu	37	2	86434448	86434448	+	Missense_Mutation	SNP	A	A	C			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr2:86434448A>C	ENST00000337109.4	+	3	410	c.376A>C	c.(376-378)Aag>Cag	p.K126Q	MRPL35_ENST00000605125.1_Intron|MRPL35_ENST00000254644.8_Missense_Mutation_p.K126Q|MRPL35_ENST00000409180.1_Missense_Mutation_p.K126Q	NM_016622.3	NP_057706.2	Q9NZE8	RM35_HUMAN	mitochondrial ribosomal protein L35	126					translation	mitochondrial ribosome	structural constituent of ribosome	p.K126Q(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(2)	14						GGTGAGGAGAAAGGTGAGTCT	0.468000													20	56					0	0	0.069288	0	0
KMT2C	58508	broad.mit.edu	37	7	151945220	151945220	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr7:151945220C>G	ENST00000355193.2	-	14	2517	c.2299G>C	c.(2299-2301)Gag>Cag	p.E767Q	KMT2C_ENST00000262189.6_Missense_Mutation_p.E767Q					lysine (K)-specific methyltransferase 2C									p.E767Q(2)									AATGATGACTCTGTCTCAGAT	0.413000													5	205					0	0	0.021553	0	0
OR2Z1	284383	broad.mit.edu	37	19	8842207	8842207	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr19:8842207G>A	ENST00000324060.2	+	1	892	c.817G>A	c.(817-819)Gtg>Atg	p.V273M		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	273					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V273M(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GCAGGATAACGTGGTTTCCCT	0.537000													27	160					0	0	0.108266	0	0
NCF2	4688	broad.mit.edu	37	1	183532680	183532680	+	Missense_Mutation	SNP	A	A	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr1:183532680A>T	ENST00000413720.1	-	11	1206	c.932T>A	c.(931-933)gTg>gAg	p.V311E	NCF2_ENST00000418089.1_Missense_Mutation_p.V275E|NCF2_ENST00000367535.3_Missense_Mutation_p.V356E|NCF2_ENST00000367536.1_Missense_Mutation_p.V356E|NCF2_ENST00000469280.1_5'UTR	NM_001190794.1	NP_001177723.1	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	356					cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding	p.V356E(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						CTTGTAGTGCACCTTGAGTGT	0.547000													45	384					0	0	0.045515	0	0
BRWD1	54014	broad.mit.edu	37	21	40568278	40568278	+	Silent	SNP	C	C	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr21:40568278C>T	ENST00000342449.3	-	41	6795	c.6717G>A	c.(6715-6717)acG>acA	p.T2239T	BRWD1_ENST00000333229.2_Intron|BRWD1_ENST00000380800.3_Intron	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		p.T2239T(1)		cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				CCTGATTTCTCGTTTTTATTT	0.393000													67	483					0	0	0.048971	0	0
RARA	5914	broad.mit.edu	37	17	38510626	38510626	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr17:38510626C>T	ENST00000254066.5	+	7	1335	c.880C>T	c.(880-882)Cgg>Tgg	p.R294W	RARA_ENST00000394086.3_Missense_Mutation_p.R310W|RARA_ENST00000394081.3_Missense_Mutation_p.R289W|RARA_ENST00000425707.3_Missense_Mutation_p.R197W|RARA_ENST00000420042.1_3'UTR|RARA_ENST00000394089.2_Missense_Mutation_p.R294W	NM_000964.3	NP_000955.1	P10276	RARA_HUMAN	retinoic acid receptor, alpha	294	Ligand-binding.				apoptotic cell clearance|cellular response to estrogen stimulus|cellular response to retinoic acid|estrogen receptor signaling pathway|negative regulation of granulocyte differentiation|negative regulation of interferon-gamma production|negative regulation of tumor necrosis factor production|positive regulation of binding|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-5 production|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	cytoplasm|nucleoplasm	chromatin DNA binding|enzyme binding|protein domain specific binding|protein heterodimerization activity|receptor binding|retinoic acid binding|retinoic acid receptor activity|retinoic acid-responsive element binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	p.R294W(1)		breast(1)|kidney(4)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|urinary_tract(2)	16		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00143)		Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799)	GACCCTGAACCGGACCCAGAT	0.642000			T	"""PML, ZNF145, TIF1, NUMA1, NPM1"""	APL								21	93					0	0	0.076483	0	0
MTTP	4547	broad.mit.edu	37	4	100532321	100532321	+	Silent	SNP	G	G	C			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr4:100532321G>C	ENST00000457717.1	+	14	2047	c.1791G>C	c.(1789-1791)ctG>ctC	p.L597L	MTTP_ENST00000265517.5_Silent_p.L597L|MTTP_ENST00000511045.1_Silent_p.L624L|RP11-766F14.1_ENST00000508578.1_RNA	NM_000253.2	NP_000244.2	P55157	MTP_HUMAN	microsomal triglyceride transfer protein	597	Vitellogenin.				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity	p.L597L(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	GTCGAGTTCTGAAGGAAATGG	0.393000													22	86					0	0	0.091800	0	0
AHNAK	79026	broad.mit.edu	37	11	62288867	62288867	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr11:62288867G>A	ENST00000378024.4	-	5	13296	c.13022C>T	c.(13021-13023)cCt>cTt	p.P4341L	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4341					nervous system development	nucleus	protein binding	p.P4341L(1)		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)				GTCAGCCTTAGGAAGGGTAAC	0.502000													10	388					0	0	0.069234	0	0
MAPKAPK3	7867	broad.mit.edu	37	3	50684226	50684226	+	Silent	SNP	C	C	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr3:50684226C>A	ENST00000446044.1	+	11	1481	c.885C>A	c.(883-885)atC>atA	p.I295I	MAPKAPK3_ENST00000357955.2_Silent_p.I295I	NM_001243926.1	NP_001230855.1	Q16644	MAPK3_HUMAN	mitogen-activated protein kinase-activated protein kinase 3	295	Protein kinase.				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity	p.I295I(1)		central_nervous_system(1)|ovary(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)		GGCTGACCATCACTCAGTTCA	0.622000													14	70					1.5739e-10	1.72337e-10	0.028581	1	0
FAM193A	8603	broad.mit.edu	37	4	2692602	2692602	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr4:2692602C>T	ENST00000324666.5	+	13	2186	c.1835C>T	c.(1834-1836)aCg>aTg	p.T612M	FAM193A_ENST00000545951.1_Missense_Mutation_p.T612M|FAM193A_ENST00000505311.1_Missense_Mutation_p.T612M|FAM193A_ENST00000382839.3_Missense_Mutation_p.T612M|FAM193A_ENST00000502458.1_Missense_Mutation_p.T634M	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	612								p.T612M(1)		NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						GTCATGGCCACGTCATCAGCC	0.448000													15	92					0	0	0.033300	0	0
KLHL1	57626	broad.mit.edu	37	13	70314531	70314531	+	Silent	SNP	A	A	G			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr13:70314531A>G	ENST00000377844.4	-	8	2556	c.1797T>C	c.(1795-1797)aaT>aaC	p.N599N	KLHL1_ENST00000545028.1_Silent_p.N406N	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	599					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	p.N599N(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		CTTACTTGCCATTCAATGCTG	0.318000													10	27					0	0	0.069234	0	0
RBM10	8241	broad.mit.edu	37	X	47044970	47044970	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chrX:47044970C>T	ENST00000377604.3	+	20	3038	c.2296C>T	c.(2296-2298)Cgc>Tgc	p.R766C	RBM10_ENST00000329236.7_Missense_Mutation_p.R688C|RBM10_ENST00000345781.6_Missense_Mutation_p.R689C	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	766					mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						GCTCTGCCGACGCCAGTTCCC	0.667000													4	4					0	0	0.009096	0	0
ARHGEF1	9138	broad.mit.edu	37	19	42410144	42410144	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr19:42410144G>A	ENST00000599846.1	+	27	2751	c.2626G>A	c.(2626-2628)Gag>Aag	p.E876K	ARHGEF1_ENST00000378152.4_Missense_Mutation_p.E802K|ARHGEF1_ENST00000354532.3_Missense_Mutation_p.E820K|ARHGEF1_ENST00000347545.4_Missense_Mutation_p.E787K|ARHGEF1_ENST00000337665.4_Missense_Mutation_p.E835K			Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	820				S -> R (in Ref. 3; CAA70356).	cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity	p.E835K(1)		breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		ACCAGGCCCCGAGGGCCAGCT	0.642000													26	125					0	0	0.034045	0	0
HERC2P9	440248	broad.mit.edu	37	15	28900454	28900454	+	RNA	SNP	G	G	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr15:28900454G>A	ENST00000528584.1	+	0	50					NR_036443.1																						CAGTCCTTCCGTCATGGGACA	0.438000													3	35					0	0	0.004672	0	0
IGHV1OR16-3	28313	broad.mit.edu	37	16	32070612	32070612	+	RNA	SNP	A	A	C			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr16:32070612A>C	ENST00000566806.1	-	0	499																											GGTCTCCTGCAAGGCTTCTGG	0.552000													5	133					0	0	0.029380	0	0
TMEM163	81615	broad.mit.edu	37	2	135308215	135308215	+	Silent	SNP	G	G	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr2:135308215G>A	ENST00000281924.6	-	4	448	c.384C>T	c.(382-384)gaC>gaT	p.D128D		NM_030923.4	NP_112185.1	Q8TC26	TM163_HUMAN	transmembrane protein 163	128						integral to membrane		p.D128D(1)		endometrium(1)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.154)		ATGACAGGACGTCCAGGATGG	0.502000													11	76					0	0	0.080935	0	0
ELOVL7	79993	broad.mit.edu	37	5	60083198	60083198	+	Silent	SNP	C	C	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr5:60083198C>T	ENST00000508821.1	-	3	341	c.27G>A	c.(25-27)agG>agA	p.R9R	ELOVL7_ENST00000425382.1_Silent_p.R9R|ELOVL7_ENST00000505959.1_5'UTR|ELOVL7_ENST00000438340.1_Silent_p.R9R	NM_024930.2	NP_079206.2	A1L3X0	ELOV7_HUMAN	ELOVL fatty acid elongase 7	9					fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding	p.R9R(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	9		Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481)				GATGCACAGTCCTCGATGTAA	0.338000													11	59					0	0	0.105934	0	0
DLST	1743	broad.mit.edu	37	14	75369021	75369021	+	Silent	SNP	C	C	G			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr14:75369021C>G	ENST00000334220.4	+	15	1411	c.1350C>G	c.(1348-1350)ctC>ctG	p.L450L	DLST_ENST00000334212.6_Silent_p.L364L	NM_001933.4	NP_001924.2	P36957	ODO2_HUMAN	dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex)	450					lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	dihydrolipoyllysine-residue succinyltransferase activity	p.L450L(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00698)		GAGTCCTCCTCCTGGATCTTT	0.547000													9	43					0	0	0.069234	0	0
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr19:58385546G>T	ENST00000435989.2	-	3	1446	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	404					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.D404E(10)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393000													4	14					0.00024832	0.000258887	0.009096	1	0
YAE1D1	57002	broad.mit.edu	37	7	39612174	39612174	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr7:39612174G>C	ENST00000223273.2	+	3	593	c.550G>C	c.(550-552)Gaa>Caa	p.E184Q	YAE1D1_ENST00000432096.2_Intron	NM_020192.3	NP_064577.1	Q9NRH1	CG036_HUMAN	Yae1 domain containing 1	184								p.E184Q(1)									TTCATATGTAGAATGTTGTAG	0.393000													20	92					0	0	0.049695	0	0
SERPINB13	5275	broad.mit.edu	37	18	61255985	61255985	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr18:61255985C>G	ENST00000344731.5	+	2	186	c.84C>G	c.(82-84)ttC>ttG	p.F28L	SERPINB13_ENST00000269489.5_Missense_Mutation_p.F28L	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 13	28					regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity	p.F28L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						GCAACATCTTCTTTTCCCCTG	0.532000													19	53					0	0	0.043863	0	0
LILRA2	11027	broad.mit.edu	37	19	55085807	55085807	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr19:55085807C>T	ENST00000251377.3	+	4	243	c.110C>T	c.(109-111)tCt>tTt	p.S37F	LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.S37F|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000495786.1_3'UTR|LILRA2_ENST00000391737.1_Missense_Mutation_p.S25F|LILRA2_ENST00000391738.3_Missense_Mutation_p.S37F					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2									p.S37F(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		GAGCCAGGCTCTGTGATCATC	0.542000													99	157					0	0	0.048971	0	0
HIST3H2BB	128312	broad.mit.edu	37	1	228645991	228645991	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr1:228645991G>A	ENST00000369160.2	+	1	184	c.161G>A	c.(160-162)gGc>gAc	p.G54D		NM_175055.2	NP_778225.1	Q8N257	H2B3B_HUMAN	histone cluster 3, H2bb	54					nucleosome assembly	nucleosome|nucleus	DNA binding	p.G54D(2)		skin(1)	1		Prostate(94;0.183)				CCCGACACCGGCATCTCGTCC	0.587000													4	223					0	0	0.009096	0	0
FLRT2	23768	broad.mit.edu	37	14	86088847	86088847	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr14:86088847C>T	ENST00000330753.4	+	2	1756	c.989C>T	c.(988-990)tCa>tTa	p.S330L	FLRT2_ENST00000554746.1_Missense_Mutation_p.S330L	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	330	LRRCT.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	p.S330L(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		TATATCCCTTCATCTCTCAAC	0.478000													94	241					0	0	0.048971	0	0
UBBP4	23666	broad.mit.edu	37	17	21731144	21731144	+	Missense_Mutation	SNP	T	T	G	rs149119138	by1000genomes	TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr17:21731144T>G	ENST00000584755.1	+	2	843	c.446T>G	c.(445-447)cTg>cGg	p.L149R	UBBP4_ENST00000578713.1_Missense_Mutation_p.L149R|UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000583708.1_3'UTR														p.L149R(18)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTCCTGCGTCTGAGAGGTGGT	0.542000													5	82					0	0	0.014758	0	0
PAK3	5063	broad.mit.edu	37	X	110463610	110463610	+	Missense_Mutation	SNP	C	C	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chrX:110463610C>A	ENST00000372007.5	+	18	1961	c.1570C>A	c.(1570-1572)Cct>Act	p.P524T	PAK3_ENST00000372010.1_Missense_Mutation_p.P539T|PAK3_ENST00000425146.1_Missense_Mutation_p.P524T|PAK3_ENST00000360648.4_Missense_Mutation_p.P560T|PAK3_ENST00000262836.4_Missense_Mutation_p.P539T|PAK3_ENST00000518291.1_Missense_Mutation_p.P560T|PAK3_ENST00000519681.1_Missense_Mutation_p.P545T|PAK3_ENST00000446737.1_Missense_Mutation_p.P524T|PAK3_ENST00000417227.1_Missense_Mutation_p.P545T	NM_002578.3	NP_002569.1	O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3		Protein kinase.				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding	p.P560T(1)|p.P524T(1)		breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						ATTAGCCAAGCCTCTCTCCAG	0.418000										TSP Lung(19;0.15)			9	16					0.000274275	0.000284433	0.047766	1	0
CUBN	8029	broad.mit.edu	37	10	17142151	17142151	+	Missense_Mutation	SNP	A	A	G			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr10:17142151A>G	ENST00000377833.4	-	14	1683	c.1618T>C	c.(1618-1620)Tct>Cct	p.S540P		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	540	CUB 1.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	p.S540P(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AAAGCAGAAGAGGAATCTCCA	0.408000													17	104					0	0	0.028581	0	0
GRM8	2918	broad.mit.edu	37	7	126544099	126544099	+	Silent	SNP	T	T	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr7:126544099T>A	ENST00000339582.2	-	5	1753	c.945A>T	c.(943-945)atA>atT	p.I315I	GRM8_ENST00000358373.3_Silent_p.I315I|GRM8_ENST00000444921.2_Silent_p.I315I|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000405249.1_Silent_p.I315I			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	315					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		p.I315I(2)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	AGACAGGTGCTATTTTGGATC	0.403000										HNSCC(24;0.065)			35	121					0	0	0.059317	0	0
FASTKD3	79072	broad.mit.edu	37	5	7867809	7867809	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr5:7867809C>T	ENST00000264669.5	-	2	524	c.388G>A	c.(388-390)Gca>Aca	p.A130T	MTRR_ENST00000502509.1_Intron|FASTKD3_ENST00000513658.1_Intron	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	130					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	p.A130T(1)		breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GCTCCTGCTGCCATAGTGTCA	0.418000													14	61					0	0	0.020292	0	0
AFM	173	broad.mit.edu	37	4	74363404	74363404	+	Silent	SNP	C	C	G			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr4:74363404C>G	ENST00000226355.3	+	10	1320	c.1227C>G	c.(1225-1227)ctC>ctG	p.L409L		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	409	Albumin 3.				vitamin transport		vitamin E binding	p.L409L(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AGAAAAGCCTCAAGATGGTAC	0.338000													13	29					0	0	0.024245	0	0
RALGPS2	55103	broad.mit.edu	37	1	178753646	178753646	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr1:178753646G>C	ENST00000367635.3	+	3	489	c.151G>C	c.(151-153)Gaa>Caa	p.E51Q	RALGPS2_ENST00000367634.2_Missense_Mutation_p.E51Q	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	51	Ras-GEF.				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity|protein binding	p.E51Q(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						GGTTACACCAGAAGAATATGC	0.393000													17	77					0	0	0.033300	0	0
NXPH2	11249	broad.mit.edu	37	2	139428760	139428760	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr2:139428760G>A	ENST00000272641.3	-	2	633	c.527C>T	c.(526-528)aCc>aTc	p.T176I		NM_007226.2	NP_009157.1	O95156	NXPH2_HUMAN	neurexophilin 2	176	IV (linker domain).				neuropeptide signaling pathway	extracellular region		p.T176>?(1)|p.T176I(1)		endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)|urinary_tract(3)	22				BRCA - Breast invasive adenocarcinoma(221;0.101)		GGTCTCCAAGGTAGACTGGGG	0.468000													9	39					0	0	0.058154	0	0
CDH22	64405	broad.mit.edu	37	20	44856245	44856245	+	Missense_Mutation	SNP	A	A	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr20:44856245A>T	ENST00000372262.3	-	3	972	c.572T>A	c.(571-573)aTg>aAg	p.M191K	CDH22_ENST00000537909.1_Missense_Mutation_p.M191K	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	191	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.M191K(1)		endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				ATCCGAGGCCATCACCTGCAT	0.682000													12	5					0	0	0.043863	0	0
TCF4	6925	broad.mit.edu	37	18	52946899	52946899	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr18:52946899G>C	ENST00000564403.2	-	9	1082	c.556C>G	c.(556-558)Ctt>Gtt	p.L186V	TCF4_ENST00000570287.2_Intron|TCF4_ENST00000563760.1_Intron|TCF4_ENST00000566279.1_Intron|TCF4_ENST00000565018.2_Intron|TCF4_ENST00000537856.3_Intron|TCF4_ENST00000543082.1_Intron|TCF4_ENST00000354452.3_Intron|TCF4_ENST00000398339.1_Intron|TCF4_ENST00000544241.2_Intron|TCF4_ENST00000356073.4_Intron|TCF4_ENST00000568740.1_Intron|TCF4_ENST00000566286.1_Intron|TCF4_ENST00000457482.3_Intron|TCF4_ENST00000561831.3_Intron|TCF4_ENST00000564228.1_Intron|TCF4_ENST00000570177.2_Intron|TCF4_ENST00000537578.1_Intron|TCF4_ENST00000568673.1_Intron|TCF4_ENST00000540999.1_Intron|TCF4_ENST00000564999.1_Intron|TCF4_ENST00000561992.1_Intron|TCF4_ENST00000567880.1_Intron	NM_001243228.1	NP_001230157.1	P15884	ITF2_HUMAN	transcription factor 4	183					positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		TGAGGAGAAAGAACCAACTGA	0.473000													10	47					0	0	0.069234	0	0
CDH2	1000	broad.mit.edu	37	18	25593677	25593677	+	Silent	SNP	C	C	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr18:25593677C>T	ENST00000269141.3	-	3	792	c.369G>A	c.(367-369)ctG>ctA	p.L123L	CDH2_ENST00000399380.3_Silent_p.L92L	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	123					adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding	p.L123L(1)		NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						AGGTTGGCTTCAGGCTCAATT	0.418000													51	205					0	0	0.048971	0	0
OR4C6	219432	broad.mit.edu	37	11	55433539	55433539	+	Silent	SNP	C	C	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr11:55433539C>T	ENST00000314259.3	+	1	926	c.897C>T	c.(895-897)ctC>ctT	p.L299L		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	299					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L299L(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						TGAAGAAACTCTGGATGAAAT	0.423000													29	55					0	0	0.037714	0	0
SLC7A3	84889	broad.mit.edu	37	X	70149567	70149567	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chrX:70149567G>C	ENST00000374299.3	-	2	425	c.281C>G	c.(280-282)tCt>tGt	p.S94C	SLC7A3_ENST00000298085.4_Missense_Mutation_p.S94C			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	94					cellular nitrogen compound metabolic process	integral to membrane|plasma membrane		p.S94C(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	TGCCGAACCAGAACGGGGAAC	0.542000													10	16					0	0	0.080935	0	0
RYR3	6263	broad.mit.edu	37	15	33872188	33872188	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr15:33872188G>C	ENST00000389232.4	+	13	1350	c.1280G>C	c.(1279-1281)cGc>cCc	p.R427P	RYR3_ENST00000415757.3_Missense_Mutation_p.R427P	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	427					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.R427P(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GGAAACAATCGCACAGCTGCC	0.562000													7	28					0	0	0.029380	0	0
EP400NL	347918	broad.mit.edu	37	12	132589770	132589770	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr12:132589770C>T	ENST00000376625.4	+	1	1231	c.1205C>T	c.(1204-1206)cCa>cTa	p.P402L	EP400NL_ENST00000361109.5_Missense_Mutation_p.P249L|EP400NL_ENST00000389560.2_Missense_Mutation_p.P333L|EP400NL_ENST00000392352.1_Missense_Mutation_p.P270L|EP400NL_ENST00000443539.2_Missense_Mutation_p.P270L					EP400 N-terminal like									p.P402L(2)		endometrium(1)|lung(1)|prostate(2)|urinary_tract(1)	5						CTGTATGGACCATTACAAGCA	0.378000													44	27					0	0	0.039052	0	0
SLC25A22	79751	broad.mit.edu	37	11	792032	792032	+	Silent	SNP	C	C	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr11:792032C>T	ENST00000320230.5	-	10	1336	c.855G>A	c.(853-855)ctG>ctA	p.L285L	SLC25A22_ENST00000531214.1_Silent_p.L285L	NM_001191061.1|NM_024698.5	NP_001177990.1|NP_078974.1	Q9H936	GHC1_HUMAN	solute carrier family 25 (mitochondrial carrier: glutamate), member 22	285						integral to membrane|mitochondrial inner membrane|nucleus	L-glutamate transmembrane transporter activity|protein binding|symporter activity	p.L285L(1)		endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	5		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	L-Glutamic Acid(DB00142)	AGGCGCCCTTCAGGAAGGCCG	0.697000													5	13					0	0	0.029380	0	0
MACF1	23499	broad.mit.edu	37	1	39913530	39913530	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr1:39913530G>C	ENST00000564288.1	+	82	20705	c.19928G>C	c.(19927-19929)aGa>aCa	p.R6643T	MACF1_ENST00000539005.1_Missense_Mutation_p.R4454T|MACF1_ENST00000361689.2_Missense_Mutation_p.R4584T|MACF1_ENST00000372915.3_Missense_Mutation_p.R6542T|MACF1_ENST00000317713.7_Missense_Mutation_p.R4584T|MACF1_ENST00000567887.1_Missense_Mutation_p.R6680T|MACF1_ENST00000289893.4_Missense_Mutation_p.R5086T|MACF1_ENST00000545844.1_Missense_Mutation_p.R4584T			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6652					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	p.R4584T(1)|p.R5086T(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TCTATTGAAAGAGGGCGATCA	0.448000													15	46					0	0	0.024245	0	0
TTN	7273	broad.mit.edu	37	2	179411904	179411904	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr2:179411904G>A	ENST00000589042.1	-	340	94572	c.94348C>T	c.(94348-94350)Cgt>Tgt	p.R31450C	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R28882C|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R22510C|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R22577C|TTN_ENST00000460472.2_Missense_Mutation_p.R22385C|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R29809C|TTN-AS1_ENST00000586452.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	29809	Fibronectin type-III 129.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R22510C(1)|p.R28880C(1)|p.R28882C(1)|p.R22577C(1)|p.R22385C(1)		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)			ATTGTATTACGTTCTTTCTTC	0.423000													56	215					0	0	0.048971	0	0
BAGE2	85319	broad.mit.edu	37	21	11038962	11038962	+	RNA	SNP	C	C	G			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr21:11038962C>G	ENST00000470054.1	-	0	1241									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AATGATGACTCTGTCTCAGAT	0.413000													18	797					0	0	0.043863	0	0
DCHS1	8642	broad.mit.edu	37	11	6662141	6662141	+	Missense_Mutation	SNP	C	C	T	rs143767864	byFrequency	TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr11:6662141C>T	ENST00000299441.3	-	2	1115	c.704G>A	c.(703-705)cGg>cAg	p.R235Q		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	235	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R235Q(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGGGCCCTCCGGGGGGGTGA	0.587000													45	110					0	0	0.048971	0	0
POPDC3	64208	broad.mit.edu	37	6	105609536	105609536	+	Silent	SNP	T	T	C			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr6:105609536T>C	ENST00000254765.3	-	2	527	c.249A>G	c.(247-249)gtA>gtG	p.V83V	POPDC3_ENST00000474760.1_Intron|BVES-AS1_ENST00000369122.3_RNA|BVES-AS1_ENST00000580511.1_RNA|BVES-AS1_ENST00000580854.1_RNA	NM_022361.4	NP_071756.2	Q9HBV1	POPD3_HUMAN	popeye domain containing 3	83						integral to membrane		p.V83V(1)		NS(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(3)|urinary_tract(1)	26		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)				TGACAAACAGTACAAAATTCC	0.433000													90	100					0	0	0.048971	0	0
RNASEL	6041	broad.mit.edu	37	1	182555244	182555244	+	Missense_Mutation	SNP	T	T	C			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr1:182555244T>C	ENST00000367559.3	-	2	951	c.698A>G	c.(697-699)aAt>aGt	p.N233S	RNASEL_ENST00000444138.1_Missense_Mutation_p.N233S|RNASEL_ENST00000539397.1_Missense_Mutation_p.N233S	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN	ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	233	2-5A binding (P-loop) 1.				mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding	p.N233S(1)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						TCCCCTCACATTGACATCAGC	0.517000													36	136					0	0	0.059317	0	0
HOXB4	3214	broad.mit.edu	37	17	46654110	46654110	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr17:46654110G>A	ENST00000332503.5	-	2	2521	c.730C>T	c.(730-732)Ccc>Tcc	p.P244S	HOXB3_ENST00000498678.1_Intron|HOXB3_ENST00000460160.1_Intron|HOXB3_ENST00000489475.1_Intron|HOXB3_ENST00000552000.2_Intron|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000472863.1_Intron|HOXB3_ENST00000465120.3_Intron|HOXB3_ENST00000476342.1_Intron	NM_024015.4	NP_076920.1	P17483	HXB4_HUMAN	homeobox B4	244						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P244S(1)		central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2)	9						CCTCCATTGGGCCGGCCAGGG	0.697000													11	50					0	0	0.080935	0	0
MYH7	4625	broad.mit.edu	37	14	23896042	23896042	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr14:23896042C>T	ENST00000355349.3	-	18	2150	c.1988G>A	c.(1987-1989)cGc>cAc	p.R663H		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	663	Actin-binding.|Myosin head-like.		R -> C (in CMH1).|R -> H (in CMH1).|R -> S (in CMH1).		adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.R663H(2)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		ATGGGTGGAGCGCAAGTTGGT	0.478000													18	46					0	0	0.049695	0	0
STAG2	10735	broad.mit.edu	37	X	123200039	123200039	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chrX:123200039C>T	ENST00000371160.1	+	22	2401	c.2111C>T	c.(2110-2112)tCa>tTa	p.S704L	STAG2_ENST00000354548.5_Missense_Mutation_p.S635L|STAG2_ENST00000371145.3_Missense_Mutation_p.S704L|STAG2_ENST00000371157.3_Missense_Mutation_p.S704L|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Missense_Mutation_p.S704L|STAG2_ENST00000371144.3_Missense_Mutation_p.S704L	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	704					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding	p.S704L(2)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						CATGACCTTTCAAAGTGGGAT	0.289000													19	51					0	0	0.049695	0	0
LEPRE1	64175	broad.mit.edu	37	1	43215938	43215938	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr1:43215938G>A	ENST00000236040.4	-	11	1679	c.1639C>T	c.(1639-1641)Cgc>Tgc	p.R547C	LEPRE1_ENST00000296388.5_Missense_Mutation_p.R547C|LEPRE1_ENST00000397054.3_Missense_Mutation_p.R547C	NM_001243246.1	NP_001230175.1	Q32P28	P3H1_HUMAN	leucine proline-enriched proteoglycan (leprecan) 1	547					negative regulation of cell proliferation	endoplasmic reticulum|proteinaceous extracellular matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity	p.R547C(2)		large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TCCATGATGCGCCGCACCTTC	0.582000													8	28					0	0	0.038147	0	0
KNDC1	85442	broad.mit.edu	37	10	135013943	135013943	+	Missense_Mutation	SNP	A	A	G			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr10:135013943A>G	ENST00000304613.3	+	16	2989	c.2968A>G	c.(2968-2970)Agg>Ggg	p.R990G	KNDC1_ENST00000368572.2_Missense_Mutation_p.R992G|KNDC1_ENST00000368571.2_Missense_Mutation_p.R925G			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	990					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GTCCAGCAAGAGGCCGTCGCT	0.716000													11	3					0	0	0.028581	0	0
CPD	1362	broad.mit.edu	37	17	28778804	28778804	+	Missense_Mutation	SNP	T	T	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr17:28778804T>A	ENST00000225719.4	+	14	3221	c.3145T>A	c.(3145-3147)Tgt>Agt	p.C1049S	CPD_ENST00000543464.2_Missense_Mutation_p.C802S|CPD_ENST00000584051.1_3'UTR	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	1049	Carboxypeptidase-like 3.				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding	p.C1049S(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						AGAGAAAGACTGTACTTCAAA	0.388000													14	91					0	0	0.105934	0	0
GOLGA2P9	440518	broad.mit.edu	37	19	22785606	22785606	+	RNA	SNP	C	C	G			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr19:22785606C>G	ENST00000600260.1	+	0	1613					NR_033899.1																						ACACTGCCCTCTCTCAGCCAG	0.667000													8	22					0	0	0.047766	0	0
MUC7	4589	broad.mit.edu	37	4	71347033	71347033	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr4:71347033C>T	ENST00000413702.1	+	4	860	c.572C>T	c.(571-573)gCc>gTc	p.A191V	MUC7_ENST00000456088.1_Missense_Mutation_p.A191V|MUC7_ENST00000304887.5_Missense_Mutation_p.A191V	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	191	Thr-rich.					extracellular region	protein binding	p.A191V(1)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			ACCACAGCTGCCCCACCCACA	0.587000													6	165					0	0	0.047766	0	0
FERD3L	222894	broad.mit.edu	37	7	19184975	19184975	+	Missense_Mutation	SNP	T	T	C			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr7:19184975T>C	ENST00000275461.3	-	1	69	c.11A>G	c.(10-12)tAt>tGt	p.Y4C	AC003986.5_ENST00000452700.1_RNA	NM_152898.2	NP_690862.1	Q96RJ6	FER3L_HUMAN	Fer3-like bHLH transcription factor	4					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.Y4C(1)		breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						GCTCTCCGGATAGGCCGCCAT	0.642000													11	60					0	0	0.093190	0	0
MAGEE2	139599	broad.mit.edu	37	X	75003748	75003748	+	Missense_Mutation	SNP	A	A	G			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chrX:75003748A>G	ENST00000373359.2	-	1	1331	c.1139T>C	c.(1138-1140)cTt>cCt	p.L380P		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	380	MAGE 2.							p.L380P(1)		autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TTGCTGGACAAGGAGGTAGAT	0.443000													38	82					0	0	0.074837	0	0
CBLB	868	broad.mit.edu	37	3	105378062	105378062	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr3:105378062C>T	ENST00000264122.4	-	19	3022	c.2701G>A	c.(2701-2703)Gca>Aca	p.A901T	CBLB_ENST00000407712.1_Missense_Mutation_p.A116T|CBLB_ENST00000394027.3_Missense_Mutation_p.A879T	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	901	Interaction with SH3KBP1.|Pro-rich.				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding	p.A901T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						CTGGCTGGTGCCTGTGAACCA	0.443000			Mis S		AML								4	74					0	0	0.014758	0	0
ZIM3	114026	broad.mit.edu	37	19	57647056	57647056	+	Missense_Mutation	SNP	G	G	C	rs150862431		TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr19:57647056G>C	ENST00000269834.1	-	5	1034	c.649C>G	c.(649-651)Cac>Gac	p.H217D		NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	217					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H217D(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TCCTCTGCGTGAGTTTTCTGA	0.428000													40	209					0	0	0.092188	0	0
ZNF831	128611	broad.mit.edu	37	20	57767955	57767955	+	Silent	SNP	G	G	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr20:57767955G>T	ENST00000371030.2	+	1	1881	c.1881G>T	c.(1879-1881)acG>acT	p.T627T		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	627						intracellular	nucleic acid binding|zinc ion binding	p.T627T(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GGGATGAGACGTTCAAAAGGA	0.592000													11	85					2.68362e-12	3.00565e-12	0.093190	1	0
ZNF714	148206	broad.mit.edu	37	19	21281118	21281118	+	Splice_Site	SNP	G	G	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr19:21281118G>A	ENST00000596143.1	+	3	368		c.e3+1		ZNF714_ENST00000601416.1_Splice_Site|ZNF714_ENST00000596053.1_Splice_Site|ZNF714_ENST00000291770.7_Splice_Site	NM_182515.3	NP_872321	Q96N38	ZN714_HUMAN	zinc finger protein 714						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.?(2)		endometrium(2)|kidney(3)|lung(11)|urinary_tract(2)	18						GTCTTCTTGGGTGAGAATAAC	0.328000													22	65					0	0	0.069288	0	0
CARM1	10498	broad.mit.edu	37	19	11032381	11032381	+	Missense_Mutation	SNP	C	C	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr19:11032381C>A	ENST00000327064.4	+	16	1965	c.1775C>A	c.(1774-1776)tCc>tAc	p.S592Y	CARM1_ENST00000344150.4_Missense_Mutation_p.S569Y	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN	coactivator-associated arginine methyltransferase 1	592	Transactivation domain (By similarity).				cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding	p.S592Y(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						CCCGCCATCTCCATGGCGTCG	0.652000													34	156					5.66738e-07	5.97208e-07	0.086207	1	0
CXXC4	80319	broad.mit.edu	37	4	105411974	105411974	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr4:105411974C>T	ENST00000394767.2	-	2	1436	c.986G>A	c.(985-987)cGc>cAc	p.R329H	CXXC4_ENST00000466963.1_Intron|CXXC4_ENST00000426831.1_Missense_Mutation_p.R160H	NM_025212.2	NP_079488.2	Q9H2H0	CXXC4_HUMAN	CXXC finger protein 4	160					negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway|zygotic specification of dorsal/ventral axis		DNA binding|PDZ domain binding|zinc ion binding	p.R160H(1)		kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(123;3.05e-08)		TCCCGTTTTGCGGTTCCTGCA	0.507000													4	155					0	0	0.014758	0	0
SLC38A2	54407	broad.mit.edu	37	12	46764360	46764360	+	Silent	SNP	C	C	G			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr12:46764360C>G	ENST00000256689.5	-	4	693	c.249G>C	c.(247-249)gcG>gcC	p.A83A	SLC38A2_ENST00000547252.1_5'UTR	NM_018976.4	NP_061849.2	Q96QD8	S38A2_HUMAN	solute carrier family 38, member 2	83	Regulates protein turnover upon amino acid deprivation (By similarity).				cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity	p.A83A(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	18	Lung SC(27;0.192)|Renal(347;0.236)		OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)		TGCCCACAATCGCATTGCTCA	0.393000													24	105					0	0	0.099896	0	0
ZNF668	79759	broad.mit.edu	37	16	31075213	31075213	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr16:31075213G>A	ENST00000538906.1	-	2	1352	c.568C>T	c.(568-570)Cac>Tac	p.H190Y	ZNF668_ENST00000394983.2_Missense_Mutation_p.H190Y|ZNF668_ENST00000300849.4_Missense_Mutation_p.H190Y|ZNF668_ENST00000535577.1_Missense_Mutation_p.H190Y|ZNF668_ENST00000539836.3_Missense_Mutation_p.H213Y|ZNF668_ENST00000426488.2_Missense_Mutation_p.H213Y	NM_001172668.1	NP_001166139	Q96K58	ZN668_HUMAN	zinc finger protein 668	190					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H190Y(1)|p.H213Y(1)		breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						AGGCCAGCGTGAGTACGCCGG	0.657000													9	14					0	0	0.047766	0	0
LOC645752	645752	broad.mit.edu	37	15	78211548	78211548	+	RNA	SNP	T	T	C			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr15:78211548T>C	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							CCACCTGGGATTGGAGCTTTC	0.562000													5	164					0	0	0.029380	0	0
OR10T2	128360	broad.mit.edu	37	1	158368889	158368889	+	Missense_Mutation	SNP	C	C	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr1:158368889C>A	ENST00000334438.1	-	1	367	c.368G>T	c.(367-369)cGc>cTc	p.R123L		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	123					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R123L(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					TGCTACATAGCGATCATATCC	0.473000													28	445					1.88708e-17	2.1504e-17	0.037714	1	0
SIRPB2	284759	broad.mit.edu	37	20	1459226	1459226	+	Missense_Mutation	SNP	A	A	C			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr20:1459226A>C	ENST00000359801.3	-	3	514	c.478T>G	c.(478-480)Tgg>Ggg	p.W160G	SIRPB2_ENST00000444444.2_Missense_Mutation_p.W62G|SIRPB2_ENST00000537284.1_Missense_Mutation_p.W22G|SIRPB2_ENST00000608747.1_5'UTR	NM_001122962.1	NP_001116434.1	Q5JXA9	SIRB2_HUMAN	signal-regulatory protein beta 2	160	Ig-like V-type 2.					integral to membrane		p.W160G(1)|p.W259G(1)		endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TGGATGATCCACAGGTCTGGT	0.547000													10	76					0	0	0.069234	0	0
SCN3A	6328	broad.mit.edu	37	2	166003482	166003482	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr2:166003482C>G	ENST00000360093.3	-	12	1929	c.1438G>C	c.(1438-1440)Gag>Cag	p.E480Q	SCN3A_ENST00000409101.3_Missense_Mutation_p.E480Q|SCN3A_ENST00000283254.7_Missense_Mutation_p.E480Q	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	480						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.E480Q(2)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	TCCAACAGCTCTCCTAACCCA	0.443000													33	85					0	0	0.059317	0	0
CENPE	1062	broad.mit.edu	37	4	104080302	104080302	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr4:104080302G>C	ENST00000265148.3	-	22	2555	c.2466C>G	c.(2464-2466)ttC>ttG	p.F822L	CENPE_ENST00000380026.3_Missense_Mutation_p.F797L	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	822					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity	p.F822L(1)		NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		GAAGGGTTTTGAAATTTTGGA	0.348000													11	71					0	0	0.069234	0	0
HMCN1	83872	broad.mit.edu	37	1	186092199	186092199	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr1:186092199G>A	ENST00000271588.4	+	81	12575	c.12346G>A	c.(12346-12348)Ggg>Agg	p.G4116R	HMCN1_ENST00000367492.2_Missense_Mutation_p.G4116R	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4116	Ig-like C2-type 40.				response to stimulus|visual perception	basement membrane	calcium ion binding	p.G4116R(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GCATAAAGATGGGCGTGCAAT	0.512000													27	166					0	0	0.059317	0	0
UPB1	51733	broad.mit.edu	37	22	24909450	24909450	+	Missense_Mutation	SNP	C	C	A	rs138608016		TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr22:24909450C>A	ENST00000413389.2	+	5	2007	c.414C>A	c.(412-414)aaC>aaA	p.N138K	UPB1_ENST00000326010.5_Missense_Mutation_p.N206K			Q9UBR1	BUP1_HUMAN	ureidopropionase, beta	206	CN hydrolase.				pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	beta-ureidopropionase activity|metal ion binding	p.N206N(1)|p.N206K(1)		endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	22	Colorectal(2;0.0339)					GTGATTTCAACGAGGTGAGCC	0.512000													76	49					5.21738e-30	6.01533e-30	0.048971	1	0
F8	2157	broad.mit.edu	37	X	154124398	154124398	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chrX:154124398C>G	ENST00000360256.4	-	22	6583	c.6383G>C	c.(6382-6384)gGg>gCg	p.G2128A		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	2128	F5/8 type C 1.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	p.G2128A(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CCACTTCTTCCCATCAAGACT	0.413000													62	92					0	0	0.048971	0	0
PPFIA1	8500	broad.mit.edu	37	11	70172733	70172733	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr11:70172733G>C	ENST00000253925.7	+	7	954	c.739G>C	c.(739-741)Gaa>Caa	p.E247Q	PPFIA1_ENST00000389547.3_Missense_Mutation_p.E247Q|CTA-797E19.2_ENST00000526017.1_RNA|AP000487.6_ENST00000528607.1_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	247					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity	p.E247Q(1)		breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			AAGCCACGAGGAAGACCTTGC	0.398000													291	384					0	0	0.048971	0	0
TIAM1	7074	broad.mit.edu	37	21	32575277	32575277	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr21:32575277C>T	ENST00000286827.3	-	13	2911	c.2440G>A	c.(2440-2442)Gaa>Aaa	p.E814K	TIAM1_ENST00000541036.1_Intron	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	814	RBD.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	p.E814K(2)		autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						ATTTTGTTTTCTATTAGAAAT	0.378000													26	207					0	0	0.030593	0	0
NXPH2	11249	broad.mit.edu	37	2	139428761	139428761	+	Missense_Mutation	SNP	T	T	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr2:139428761T>A	ENST00000272641.3	-	2	632	c.526A>T	c.(526-528)Acc>Tcc	p.T176S		NM_007226.2	NP_009157.1	O95156	NXPH2_HUMAN	neurexophilin 2	176	IV (linker domain).				neuropeptide signaling pathway	extracellular region		p.T176S(1)|p.T176>?(1)		endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)|urinary_tract(3)	22				BRCA - Breast invasive adenocarcinoma(221;0.101)		GTCTCCAAGGTAGACTGGGGG	0.468000													10	38					0	0	0.069234	0	0
PI4KAP1	728233	broad.mit.edu	37	22	20385733	20385733	+	RNA	SNP	A	A	G			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr22:20385733A>G	ENST00000430523.3	-	0	2078					NR_003563.1																						TACTTCAAGAACTTGATTGTC	0.537000													3	15					0	0	0.004672	0	0
POLR3E	55718	broad.mit.edu	37	16	22337220	22337220	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr16:22337220G>A	ENST00000299853.5	+	18	1654	c.1487G>A	c.(1486-1488)cGg>cAg	p.R496Q	POLR3E_ENST00000564209.1_Missense_Mutation_p.R496Q|POLR3E_ENST00000418581.2_Missense_Mutation_p.R460Q|POLR3E_ENST00000359210.4_Missense_Mutation_p.R496Q	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN	polymerase (RNA) III (DNA directed) polypeptide E (80kD)	496					innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA-directed RNA polymerase activity	p.R496Q(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		CCCGGTGTGCGGATCAAGGAG	0.692000													9	22					0	0	0.047766	0	0
ALDOB	229	broad.mit.edu	37	9	104192127	104192127	+	Silent	SNP	G	G	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr9:104192127G>A	ENST00000374855.4	-	3	358	c.234C>T	c.(232-234)atC>atT	p.I78I	ALDOB_ENST00000468981.3_5'UTR	NM_000035.3	NP_000026.2	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate	78					fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|NADH oxidation|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly	centriolar satellite|cytosol	ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding	p.I78I(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				CGTGGAAAAGGATCACACCCC	0.517000													151	95					0	0	0.048971	0	0
ANO4	121601	broad.mit.edu	37	12	101510560	101510560	+	Missense_Mutation	SNP	C	C	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr12:101510560C>A	ENST00000392979.3	+	24	2810	c.2449C>A	c.(2449-2451)Cct>Act	p.P817T	ANO4_ENST00000550015.1_Missense_Mutation_p.P372T|ANO4_ENST00000392977.3_Missense_Mutation_p.P852T|ANO4_ENST00000299222.9_Missense_Mutation_p.P372T	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	852						chloride channel complex	chloride channel activity	p.P817T(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						CTCGGGGACTCCTCTTAAGTA	0.542000										HNSCC(74;0.22)			23	144					3.62473e-10	3.94693e-10	0.062417	1	0
LRGUK	136332	broad.mit.edu	37	7	133812300	133812300	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr7:133812300C>A	ENST00000285928.2	+	1	249	c.180C>A	c.(178-180)taC>taA	p.Y60*	LRGUK_ENST00000473068.1_3'UTR	NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	60							ATP binding|kinase activity	p.Y60*(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						CCTCCTCCTACCTGCTCCAGC	0.597000													26	154					1.17739e-12	1.32626e-12	0.108266	1	0
TP53	7157	broad.mit.edu	37	17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	rs121912666		TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr17:7578190T>C	ENST00000420246.2	-	6	791	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.Y220C|TP53_ENST00000445888.2_Missense_Mutation_p.Y220C|TP53_ENST00000359597.4_Missense_Mutation_p.Y220C|TP53_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000413465.2_Missense_Mutation_p.Y220C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	220	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AGGCGGCTCATAGGGCACCAC	0.557000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			31	17					0	0	0.050027	0	0
PLEKHG5	57449	broad.mit.edu	37	1	6528318	6528318	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr1:6528318G>A	ENST00000377748.1	-	21	3306	c.2809C>T	c.(2809-2811)Cgc>Tgc	p.R937C	PLEKHG5_ENST00000340850.5_Missense_Mutation_p.R860C|PLEKHG5_ENST00000400913.1_Missense_Mutation_p.R860C|PLEKHG5_ENST00000377728.3_Missense_Mutation_p.R860C|PLEKHG5_ENST00000535355.1_Missense_Mutation_p.R929C|PLEKHG5_ENST00000377737.2_Missense_Mutation_p.R860C|PLEKHG5_ENST00000537245.1_Missense_Mutation_p.R939C|PLEKHG5_ENST00000377740.3_Intron|PLEKHG5_ENST00000377732.1_Missense_Mutation_p.R897C|PLEKHG5_ENST00000377725.1_Missense_Mutation_p.R860C|PLEKHG5_ENST00000400915.3_Missense_Mutation_p.R916C|PLEKHG5_ENST00000544978.1_Missense_Mutation_p.R860C	NM_198681.3	NP_941374.2	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	916					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity	p.R937C(1)		liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		GGGGTGCGGCGGCGGAGACGG	0.677000													5	10					0	0	0.021553	0	0
TCF4	6925	broad.mit.edu	37	18	52946874	52946874	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr18:52946874G>C	ENST00000354452.3	-	9	1174	c.563C>G	c.(562-564)tCa>tGa	p.S188*	TCF4_ENST00000570287.2_Nonsense_Mutation_p.S28*|TCF4_ENST00000564403.2_Nonsense_Mutation_p.S194*|TCF4_ENST00000563760.1_5'UTR|TCF4_ENST00000566279.1_Nonsense_Mutation_p.S128*|TCF4_ENST00000565018.2_Nonsense_Mutation_p.S188*|TCF4_ENST00000537856.3_Nonsense_Mutation_p.S58*|TCF4_ENST00000543082.1_Nonsense_Mutation_p.S146*|TCF4_ENST00000398339.1_Nonsense_Mutation_p.S290*|TCF4_ENST00000544241.2_Nonsense_Mutation_p.S117*|TCF4_ENST00000356073.4_Nonsense_Mutation_p.S188*|TCF4_ENST00000568740.1_Nonsense_Mutation_p.S163*|TCF4_ENST00000566286.1_Nonsense_Mutation_p.S186*|TCF4_ENST00000457482.3_Nonsense_Mutation_p.S28*|TCF4_ENST00000561831.3_Nonsense_Mutation_p.S28*|TCF4_ENST00000564228.1_Nonsense_Mutation_p.S117*|TCF4_ENST00000570177.2_Nonsense_Mutation_p.S58*|TCF4_ENST00000537578.1_Nonsense_Mutation_p.S164*|TCF4_ENST00000568673.1_Nonsense_Mutation_p.S164*|TCF4_ENST00000540999.1_Nonsense_Mutation_p.S164*|TCF4_ENST00000564999.1_Nonsense_Mutation_p.S188*|TCF4_ENST00000561992.1_Nonsense_Mutation_p.S58*|TCF4_ENST00000567880.1_Nonsense_Mutation_p.S128*	NM_001083962.1	NP_001077431.1	P15884	ITF2_HUMAN	transcription factor 4	188					positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding	p.S188*(1)|p.S290*(1)		breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		AGTGCTTGCTGATGGAGCATA	0.478000													9	60					0	0	0.069234	0	0
AHNAK2	113146	broad.mit.edu	37	14	105419822	105419822	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr14:105419822G>A	ENST00000333244.5	-	7	2085	c.1966C>T	c.(1966-1968)Cgc>Tgc	p.R656C	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	656						nucleus		p.R656C(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TTTTTTAAGCGTTTTTCATCG	0.403000													74	350					0	0	0.048971	0	0
TMX3	54495	broad.mit.edu	37	18	66381117	66381117	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr18:66381117C>T	ENST00000299608.2	-	2	383	c.67G>A	c.(67-69)Gtc>Atc	p.V23I	TMX3_ENST00000562706.1_Missense_Mutation_p.V23I|TMX3_ENST00000443099.2_Missense_Mutation_p.V23I	NM_019022.3	NP_061895.3	Q96JJ7	TMX3_HUMAN	thioredoxin-related transmembrane protein 3	23					cell redox homeostasis|glycerol ether metabolic process	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	p.V23I(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	17						CCTTTACAGACGACCATATCA	0.294000													4	15					0	0	0.009096	0	0
SFRP4	6424	broad.mit.edu	37	7	37955842	37955842	+	Missense_Mutation	SNP	C	C	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr7:37955842C>A	ENST00000436072.2	-	1	675	c.298G>T	c.(298-300)Gtg>Ttg	p.V100L	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	100	FZ.				brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding	p.V100L(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						CGTTGGCACACCGACTTGCAC	0.627000													17	60					5.03518e-11	5.57568e-11	0.043863	1	0
PDE1C	5137	broad.mit.edu	37	7	31862705	31862705	+	Missense_Mutation	SNP	T	T	C			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr7:31862705T>C	ENST00000396184.3	-	15	1768	c.1564A>G	c.(1564-1566)Agg>Ggg	p.R522G	PDE1C_ENST00000321453.7_Missense_Mutation_p.R522G|PDE1C_ENST00000396193.1_Missense_Mutation_p.R582G|PDE1C_ENST00000396182.2_Missense_Mutation_p.R522G|PDE1C_ENST00000396191.1_Missense_Mutation_p.R522G	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	522					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.R522G(2)|p.R582G(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			ACCTTGGCCCTCCATCTCTCC	0.458000													35	170					0	0	0.074837	0	0
TRIM36	55521	broad.mit.edu	37	5	114469698	114469698	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr5:114469698C>G	ENST00000513154.1	-	8	1683	c.1357G>C	c.(1357-1359)Gag>Cag	p.E453Q	TRIM36_ENST00000514154.1_Missense_Mutation_p.E310Q|TRIM36_ENST00000282369.3_Missense_Mutation_p.E465Q			Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	465	Fibronectin type-III.					acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding	p.E465Q(1)		breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		ACTTCTATCTCATTCCATGAC	0.363000													14	62					0	0	0.020292	0	0
T	6862	broad.mit.edu	37	6	166571980	166571980	+	Silent	SNP	C	C	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr6:166571980C>A	ENST00000296946.2	-	9	1599	c.1131G>T	c.(1129-1131)cgG>cgT	p.R377R	T_ENST00000366871.3_Silent_p.R319R	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN	T, brachyury homolog (mouse)	377					anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity	p.R377R(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		CGGGGGAGCCCCGGAAGAACT	0.706000									Chordoma, Familial Clustering of				16	51					3.32936e-07	3.52732e-07	0.038395	1	0
C20orf96	140680	broad.mit.edu	37	20	256641	256641	+	Silent	SNP	G	G	C			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr20:256641G>C	ENST00000360321.2	-	10	1137	c.999C>G	c.(997-999)gtC>gtG	p.V333V	C20orf96_ENST00000382369.5_Silent_p.V298V	NM_080571.1|NM_153269.2	NP_542138.1|NP_695001.2	Q9NUD7	CT096_HUMAN	chromosome 20 open reading frame 96	333								p.V333V(1)		endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12		all_cancers(10;0.00959)|Lung NSC(37;0.227)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			CCTCAAATATGACCTCTCGGG	0.512000													18	80					0	0	0.038395	0	0
ZNF341	84905	broad.mit.edu	37	20	32336848	32336848	+	Silent	SNP	G	G	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr20:32336848G>A	ENST00000375200.1	+	4	824	c.459G>A	c.(457-459)caG>caA	p.Q153Q	ZNF341_ENST00000342427.2_Silent_p.Q153Q	NM_001282933.1	NP_001269862.1	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	153	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q153Q(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						CCCTGGACCAGCCCATGCCCC	0.572000													4	153					0	0	0.009096	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76569457	76569457	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr16:76569457G>A	ENST00000307431.8	+	19	3153	c.2768G>A	c.(2767-2769)aGa>aAa	p.R923K	CNTNAP4_ENST00000478060.1_Missense_Mutation_p.R851K|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.R875K|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.R927K	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	924	Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.R923K(1)|p.R851K(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						ACGGCCACCAGACAGAGAGGC	0.483000													18	77					0	0	0.043863	0	0
ANO6	196527	broad.mit.edu	37	12	45810576	45810576	+	Silent	SNP	C	C	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr12:45810576C>T	ENST00000320560.8	+	17	2308	c.2106C>T	c.(2104-2106)gaC>gaT	p.D702D	ANO6_ENST00000441606.2_Silent_p.D684D|ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000425752.2_Silent_p.D702D|ANO6_ENST00000435642.1_Silent_p.D702D|ANO6_ENST00000423947.3_Silent_p.D723D	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	702					activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity	p.D702D(2)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						TAAGAGTGGACGCATGGAAAC	0.483000													14	61					0	0	0.020292	0	0
AHNAK	79026	broad.mit.edu	37	11	62296133	62296133	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr11:62296133G>A	ENST00000378024.4	-	5	6030	c.5756C>T	c.(5755-5757)gCc>gTc	p.A1919V	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1919					nervous system development	nucleus	protein binding	p.A1919V(1)		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)				GATCTTGGGGGCCTTGAAGTG	0.507000													9	663					0	0	0.058154	0	0
BCAS3	54828	broad.mit.edu	37	17	58952079	58952079	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr17:58952079C>T	ENST00000589222.1	+	9	709	c.641C>T	c.(640-642)aCg>aTg	p.T214M	BCAS3_ENST00000408905.3_Missense_Mutation_p.T214M|BCAS3_ENST00000390652.5_Missense_Mutation_p.T214M|BCAS3_ENST00000588462.1_Missense_Mutation_p.T214M|BCAS3_ENST00000407086.3_Missense_Mutation_p.T214M			Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3	214						nucleus		p.T214M(1)		NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			TGTACTTTCACGAAGAAATTC	0.328000													10	51					0	0	0.080935	0	0
IGLV3-27	28791	broad.mit.edu	37	22	23011001	23011001	+	RNA	SNP	G	G	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr22:23011001G>T	ENST00000390304.2	+	0	102																											GGCCTCCTATGAGCTGACACA	0.557000													77	260					1.00246e-47	1.16262e-47	0.048971	1	0
DNM1	1759	broad.mit.edu	37	9	130984829	130984829	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr9:130984829G>A	ENST00000341179.7	+	8	1174	c.1082G>A	c.(1081-1083)cGc>cAc	p.R361H	DNM1_ENST00000475805.1_Missense_Mutation_p.R361H|DNM1_ENST00000486160.1_Missense_Mutation_p.R361H|DNM1_ENST00000372923.3_Missense_Mutation_p.R361H|DNM1_ENST00000393594.3_Missense_Mutation_p.R361H	NM_001005336.1	NP_001005336.1	Q05193	DYN1_HUMAN	dynamin 1	361					receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity	p.R361H(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						GGGGGAGCCCGCATTAACCGA	0.592000													4	162					0	0	0.014758	0	0
NLRP2	55655	broad.mit.edu	37	19	55493697	55493697	+	Silent	SNP	C	C	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr19:55493697C>T	ENST00000543010.1	+	6	774	c.631C>T	c.(631-633)Ctg>Ttg	p.L211L	NLRP2_ENST00000448584.2_Silent_p.L211L|NLRP2_ENST00000263437.6_Silent_p.L208L|NLRP2_ENST00000427260.2_Silent_p.L188L|NLRP2_ENST00000339757.7_Silent_p.L189L|NLRP2_ENST00000537859.1_Silent_p.L189L|NLRP2_ENST00000391721.4_Silent_p.L187L|NLRP2_ENST00000538819.1_Silent_p.L187L	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	211	NACHT.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	p.L211L(1)		large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		CACGGTGGTGCTGTATGGTCC	0.517000													63	125					0	0	0.048971	0	0
TELO2	9894	broad.mit.edu	37	16	1551483	1551483	+	Silent	SNP	C	C	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr16:1551483C>T	ENST00000262319.6	+	10	1623	c.1344C>T	c.(1342-1344)gaC>gaT	p.D448D		NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	448						chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding	p.D448D(1)		NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				CTGCGGGTGACGGCGCCTCGG	0.692000													11	5					0	0	0.105934	0	0
SLC38A2	54407	broad.mit.edu	37	12	46765071	46765071	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr12:46765071C>G	ENST00000256689.5	-	2	450	c.6G>C	c.(4-6)aaG>aaC	p.K2N	SLC38A2_ENST00000547252.1_5'UTR	NM_018976.4	NP_061849.2	Q96QD8	S38A2_HUMAN	solute carrier family 38, member 2	2	Regulates protein turnover upon amino acid deprivation (By similarity).				cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity	p.K2N(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	18	Lung SC(27;0.192)|Renal(347;0.236)		OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)		TTTCGGCCTTCTTCATGCTAA	0.577000													47	136					0	0	0.048971	0	0
AHNAK	79026	broad.mit.edu	37	11	62289475	62289475	+	Silent	SNP	C	C	G			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr11:62289475C>G	ENST00000378024.4	-	5	12688	c.12414G>C	c.(12412-12414)ctG>ctC	p.L4138L	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4138					nervous system development	nucleus	protein binding	p.L4138L(1)		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)				TTGGACCTTTCAGATTCAGGT	0.517000													45	329					0	0	0.045515	0	0
WIF1	11197	broad.mit.edu	37	12	65448985	65448985	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr12:65448985C>T	ENST00000286574.4	-	9	1305	c.931G>A	c.(931-933)Gag>Aag	p.E311K		NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	WNT inhibitory factor 1	311	EGF-like 5.				multicellular organismal development|Wnt receptor signaling pathway	extracellular region	protein tyrosine kinase activity	p.E311K(2)		cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		CAGCCAGGCTCGCAGACAGCT	0.413000			T	HMGA2	pleomorphic salivary gland adenoma								16	89					0	0	0.024245	0	0
GPR98	84059	broad.mit.edu	37	5	89985850	89985850	+	Silent	SNP	A	A	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr5:89985850A>T	ENST00000405460.2	+	30	6759	c.6663A>T	c.(6661-6663)gcA>gcT	p.A2221A		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2221					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.A2221A(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TAACAGAGGCAGTCATTATTA	0.378000													4	12					0	0	0.021553	0	0
ZNF813	126017	broad.mit.edu	37	19	53994369	53994369	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr19:53994369G>T	ENST00000396403.4	+	4	1011	c.883G>T	c.(883-885)Gga>Tga	p.G295*	ZNF813_ENST00000396421.4_Intron	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	295					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G295*(1)		large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		ACTTCATACTGGAGAGAAACC	0.398000													19	119					1.01871e-10	1.12173e-10	0.049695	1	0
BAGE2	85319	broad.mit.edu	37	21	11039272	11039272	+	RNA	SNP	C	C	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr21:11039272C>T	ENST00000470054.1	-	0	931									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GTTGCTCTTGCTGCACAGTGA	0.398000													26	589					0	0	0.099896	0	0
ATP8B2	57198	broad.mit.edu	37	1	154321468	154321468	+	Silent	SNP	G	G	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr1:154321468G>T	ENST00000368489.3	+	28	3546	c.3546G>T	c.(3544-3546)ctG>ctT	p.L1182L		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	1168					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.L1182L(1)	IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			ACATGCGGCTGAGCTCTCTCG	0.647000													24	101					2.98393e-07	3.17854e-07	0.076483	1	0
ZNF555	148254	broad.mit.edu	37	19	2852822	2852822	+	Silent	SNP	G	G	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr19:2852822G>A	ENST00000334241.4	+	4	897	c.759G>A	c.(757-759)gaG>gaA	p.E253E	AC006130.3_ENST00000589365.1_RNA|ZNF555_ENST00000591539.1_Silent_p.E252E	NM_001172775.1|NM_152791.4	NP_001166246.1|NP_690004.4	Q8NEP9	ZN555_HUMAN	zinc finger protein 555	253					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E253E(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACACCGGAGAGAAGCCATATA	0.413000													12	64					0	0	0.093190	0	0
EIF2B1	1967	broad.mit.edu	37	12	124109399	124109399	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr12:124109399C>A	ENST00000424014.2	-	7	770	c.562G>T	c.(562-564)Gag>Tag	p.E188*	EIF2B1_ENST00000539951.1_Intron	NM_001414.3	NP_001405.1	Q14232	EI2BA_HUMAN	eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa	188					cellular response to stimulus|oligodendrocyte development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex|membrane fraction|plasma membrane	protein binding|translation initiation factor activity	p.E188*(1)		breast(1)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.67e-05)|Epithelial(86;0.000353)|all cancers(50;0.00489)		TCTGCTTTCTCCATGATGTAG	0.393000													17	74					4.35082e-09	4.71138e-09	0.055883	1	0
ITSN1	6453	broad.mit.edu	37	21	35255954	35255954	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr21:35255954G>A	ENST00000381318.3	+	36	4943	c.4655G>A	c.(4654-4656)cGa>cAa	p.R1552Q	ITSN1_ENST00000399367.3_Missense_Mutation_p.R1547Q|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000437442.2_Missense_Mutation_p.R1491Q|ITSN1_ENST00000381285.4_Missense_Mutation_p.R1552Q|ITSN1_ENST00000399326.3_3'UTR	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1552	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity	p.R1552Q(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						TATACTCTCCGAGCAGAAAGC	0.537000													29	199					0	0	0.037714	0	0
CROCCP2	84809	broad.mit.edu	37	1	16946336	16946336	+	RNA	SNP	G	G	A	rs11586784	by1000genomes	TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr1:16946336G>A	ENST00000412962.1	-	0	1183																											CAGGGCTCACGAACCTGCTGC	0.662000													6	22					0	0	0.029380	0	0
DSCAML1	57453	broad.mit.edu	37	11	117321323	117321323	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr11:117321323G>A	ENST00000321322.6	-	20	3831	c.3830C>T	c.(3829-3831)cCc>cTc	p.P1277L	DSCAML1_ENST00000527706.1_Missense_Mutation_p.P1007L	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1217	Fibronectin type-III 4.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	p.P1277L(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CACCCCGTTGGGCTTGGTAGG	0.582000													16	114					0	0	0.024245	0	0
IMP4	92856	broad.mit.edu	37	2	131103630	131103630	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr2:131103630G>C	ENST00000259239.3	+	7	1342	c.634G>C	c.(634-636)Gat>Cat	p.D212H	IMP4_ENST00000409935.1_Missense_Mutation_p.D212H	NM_033416.1	NP_219484.1	Q96G21	IMP4_HUMAN	IMP4, U3 small nucleolar ribonucleoprotein, homolog (yeast)	212	Brix.				rRNA processing|translation	nucleolus|ribonucleoprotein complex	aminoacyl-tRNA ligase activity|ATP binding|protein binding	p.D212H(1)		central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	18	Colorectal(110;0.1)					CGTGCCCAAAGATGACAGCCA	0.592000													18	89					0	0	0.038395	0	0
ARHGEF5	7984	broad.mit.edu	37	7	144062382	144062382	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr7:144062382G>A	ENST00000056217.5	+	2	2794	c.2620G>A	c.(2620-2622)Ggt>Agt	p.G874S		NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	874					intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity	p.G874S(1)		breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					GAACTCAGGGGGTCATGCCAA	0.612000													74	140					0	0	0.048971	0	0
PHKA1	5255	broad.mit.edu	37	X	71839145	71839145	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chrX:71839145C>T	ENST00000373545.3	-	19	2409	c.1971G>A	c.(1969-1971)atG>atA	p.M657I	PHKA1_ENST00000541944.1_Missense_Mutation_p.M657I|PHKA1_ENST00000373539.3_Missense_Mutation_p.M716I|PHKA1_ENST00000339490.3_Missense_Mutation_p.M716I|PHKA1_ENST00000373542.4_Missense_Mutation_p.M716I			P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	662					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	p.M716I(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					TAGGAAGATACATGTGAACAT	0.388000													10	4					0	0	0.069234	0	0
KCNU1	157855	broad.mit.edu	37	8	36793051	36793051	+	Silent	SNP	A	A	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr8:36793051A>T	ENST00000399881.3	+	27	3100	c.3063A>T	c.(3061-3063)ccA>ccT	p.P1021P		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	1021						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	p.P1021P(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TCACCCGGCCAGCCAATGAGT	0.458000													71	103					0	0	0.048971	0	0
MAPKAPK3	7867	broad.mit.edu	37	3	50685381	50685381	+	Silent	SNP	C	C	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr3:50685381C>T	ENST00000446044.1	+	13	1649	c.1053C>T	c.(1051-1053)atC>atT	p.I351I	MAPKAPK3_ENST00000357955.2_Silent_p.I351I	NM_001243926.1	NP_001230855.1	Q16644	MAPK3_HUMAN	mitogen-activated protein kinase-activated protein kinase 3	351					activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity	p.I351I(1)		central_nervous_system(1)|ovary(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)		AGGTGAAGATCAAGGACCTGA	0.552000													42	147					0	0	0.098360	0	0
POP1	10940	broad.mit.edu	37	8	99168597	99168597	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr8:99168597G>A	ENST00000401707.2	+	15	2458	c.2377G>A	c.(2377-2379)Gaa>Aaa	p.E793K	POP1_ENST00000349693.3_Missense_Mutation_p.E793K	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	793					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity	p.E793K(1)		autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			GGAGGCCAGTGAAAACCATGT	0.512000													35	216					0	0	0.069456	0	0
RCSD1	92241	broad.mit.edu	37	1	167666699	167666699	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr1:167666699G>A	ENST00000367854.3	+	6	1169	c.838G>A	c.(838-840)Gag>Aag	p.E280K	RCSD1_ENST00000537350.1_Missense_Mutation_p.E250K	NM_052862.3	NP_443094.3	Q6JBY9	CPZIP_HUMAN	RCSD domain containing 1	280	RCSD.							p.E280K(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					GGCCCAAGAGGAGGTCCCGGA	0.612000													10	69					0	0	0.069234	0	0
DNAJB11	51726	broad.mit.edu	37	3	186299223	186299223	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr3:186299223G>C	ENST00000439351.1	+	6	1449	c.520G>C	c.(520-522)Gag>Cag	p.E174Q	DNAJB11_ENST00000265028.3_Missense_Mutation_p.E174Q			Q9UBS4	DJB11_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 11	174					protein folding	endoplasmic reticulum lumen	heat shock protein binding	p.E174Q(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2)	15	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)		TTGTCGGCAAGAGATGCGGAC	0.517000													31	139					0	0	0.069456	0	0
ZNF285	26974	broad.mit.edu	37	19	44891096	44891096	+	Silent	SNP	G	G	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr19:44891096G>A	ENST00000330997.4	-	4	1375	c.1311C>T	c.(1309-1311)ttC>ttT	p.F437F	ZNF285_ENST00000591679.1_Silent_p.F444F|ZNF285_ENST00000544719.2_Silent_p.F437F|CTC-512J12.6_ENST00000588212.1_Intron	NM_152354.3	NP_689567.3			zinc finger protein 285									p.F437F(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						TACATTGGCTGAAGCCCTTTC	0.473000													21	109					0	0	0.055883	0	0
PPP6R3	55291	broad.mit.edu	37	11	68331848	68331848	+	Missense_Mutation	SNP	C	C	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr11:68331848C>A	ENST00000393799.2	+	9	1190	c.923C>A	c.(922-924)gCc>gAc	p.A308D	PPP6R3_ENST00000393800.2_Missense_Mutation_p.A308D|PPP6R3_ENST00000534534.1_Intron|PPP6R3_ENST00000265636.5_Missense_Mutation_p.A308D|PPP6R3_ENST00000524845.1_Missense_Mutation_p.A308D|PPP6R3_ENST00000393801.3_Missense_Mutation_p.A308D|PPP6R3_ENST00000527403.2_Missense_Mutation_p.A308D|PPP6R3_ENST00000265637.4_Missense_Mutation_p.A308D|PPP6R3_ENST00000529710.1_Missense_Mutation_p.A308D|PPP6R3_ENST00000524904.1_Missense_Mutation_p.A308D			Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	308					regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding	p.A308D(2)		breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						GTTCTAGAAGCCATCAGAGGA	0.458000													9	240					1.08611e-07	1.16326e-07	0.080935	1	0
USP43	124739	broad.mit.edu	37	17	9631804	9631804	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr17:9631804G>T	ENST00000285199.7	+	15	2965	c.2869G>T	c.(2869-2871)Gag>Tag	p.E957*	USP43_ENST00000570475.1_Nonsense_Mutation_p.E952*|USP43_ENST00000570827.2_3'UTR	NM_001267576.1|NM_153210.4	NP_001254505.1|NP_694942.3	Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43						ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	p.E958*(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						GAACTGGAAGGAGAGCTTCCA	0.552000													12	28					9.05144e-12	1.008e-11	0.105934	1	0
SPAG17	200162	broad.mit.edu	37	1	118628687	118628687	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr1:118628687C>G	ENST00000336338.5	-	13	1685	c.1620G>C	c.(1618-1620)aaG>aaC	p.K540N		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	540						cilium|flagellar axoneme|microtubule		p.K540N(1)		NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		GATCAAAATTCTTTTGGTCCT	0.423000													27	60					0	0	0.034045	0	0
OR5B21	219968	broad.mit.edu	37	11	58275356	58275356	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr11:58275356C>T	ENST00000360374.2	-	1	222	c.223G>A	c.(223-225)Gta>Ata	p.V75I		NM_001005218.1	NP_001005218.1	A6NL26	OR5BL_HUMAN	olfactory receptor, family 5, subfamily B, member 21	75					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V75I(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TTGGGGGCTACAGCTGATGAG	0.512000													15	71					0	0	0.024245	0	0
KCNH1	3756	broad.mit.edu	37	1	211276926	211276926	+	Silent	SNP	C	C	G			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr1:211276926C>G	ENST00000367007.4	-	3	391	c.222G>C	c.(220-222)ctG>ctC	p.L74L	KCNH1_ENST00000271751.4_Silent_p.L74L	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	74	PAS.				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity	p.L74L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		CTTTATCAGTCAGCTCCCCAT	0.328000													17	72					0	0	0.033300	0	0
SLMAP	7871	broad.mit.edu	37	3	57827025	57827025	+	Splice_Site	SNP	G	G	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr3:57827025G>A	ENST00000383718.3	+	3	444		c.e3-1		SLMAP_ENST00000449503.2_Splice_Site|SLMAP_ENST00000416870.1_Splice_Site|SLMAP_ENST00000295952.3_Splice_Site|SLMAP_ENST00000295951.3_Splice_Site|SLMAP_ENST00000428312.1_Splice_Site			Q14BN4	SLMAP_HUMAN	sarcolemma associated protein						muscle contraction|protein folding	integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum	unfolded protein binding	p.?(1)		endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2)	18				BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)		GTTTCAACCAGTTACCCATGG	0.318000													51	20					0	0	0.048971	0	0
GTF3C3	9330	broad.mit.edu	37	2	197650253	197650253	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr2:197650253G>C	ENST00000263956.3	-	7	1042	c.953C>G	c.(952-954)tCa>tGa	p.S318*	GTF3C3_ENST00000470386.1_5'UTR|GTF3C3_ENST00000409364.3_Nonsense_Mutation_p.S318*	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	318						transcription factor TFIIIC complex	DNA binding|protein binding	p.S318*(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						CTGGTGTTTTGAGAAAGCTTC	0.343000													11	48					0	0	0.080935	0	0
DACH1	1602	broad.mit.edu	37	13	72049858	72049858	+	Missense_Mutation	SNP	T	T	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr13:72049858T>A	ENST00000305425.4	-	9	2422	c.2000A>T	c.(1999-2001)gAt>gTt	p.D667V	DACH1_ENST00000354591.4_Missense_Mutation_p.D465V|DACH1_ENST00000359684.2_Missense_Mutation_p.D719V|DACH1_ENST00000313174.7_Missense_Mutation_p.D519V	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN	dachshund homolog 1 (Drosophila)	717	DACHbox-C.|Interaction with SIN3A (By similarity).				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding	p.D667V(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		CCTGAGACTATCTGTTGAAGC	0.393000													106	80					0	0	0.048971	0	0
FAT4	79633	broad.mit.edu	37	4	126336800	126336800	+	Missense_Mutation	SNP	A	A	C			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr4:126336800A>C	ENST00000394329.3	+	5	6695	c.6682A>C	c.(6682-6684)Act>Cct	p.T2228P	FAT4_ENST00000335110.5_Missense_Mutation_p.T526P	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2228	Cadherin 21.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.T2228P(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CTACCATTTAACTGTTCAGGC	0.438000													25	121					0	0	0.099896	0	0
MCPH1	79648	broad.mit.edu	37	8	6357451	6357451	+	Splice_Site	SNP	G	G	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr8:6357451G>A	ENST00000344683.5	+	12	2290		c.e12+1		ANGPT2_ENST00000415216.1_3'UTR|ANGPT2_ENST00000325203.5_3'UTR	NM_024596.3	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin 1							microtubule organizing center		p.?(1)	AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		TGCAGCTCCCGTAAGTCAGAT	0.428000													15	50					0	0	0.020292	0	0
DYRK4	8798	broad.mit.edu	37	12	4708904	4708904	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr12:4708904C>G	ENST00000540757.2	+	8	891	c.731C>G	c.(730-732)gCc>gGc	p.A244G	DYRK4_ENST00000543431.1_Missense_Mutation_p.A244G|DYRK4_ENST00000010132.5_Missense_Mutation_p.A244G	NM_001282285.1|NM_001282286.1|NM_003845.1	NP_001269214.1|NP_001269215.1|NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	244	Protein kinase.					Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.A646G(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			AAGGGCCAAGCCTCTGTTAAA	0.428000													18	80					0	0	0.038395	0	0
ZNF644	84146	broad.mit.edu	37	1	91406112	91406112	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr1:91406112G>C	ENST00000370440.1	-	3	1016	c.799C>G	c.(799-801)Caa>Gaa	p.Q267E	ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000337393.5_Missense_Mutation_p.Q267E			Q9H582	ZN644_HUMAN	zinc finger protein 644	267					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q267E(1)		breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		ATAAGAAATTGAATGAACTCT	0.348000													30	122					0	0	0.034045	0	0
PCDHA1	56147	broad.mit.edu	37	5	140167231	140167231	+	Silent	SNP	G	G	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr5:140167231G>A	ENST00000504120.2	+	1	1356	c.1356G>A	c.(1354-1356)gcG>gcA	p.A452A	PCDHA1_ENST00000394633.3_Silent_p.A452A|PCDHA1_ENST00000378133.3_Silent_p.A452A	NM_018900.2	NP_061723.1												p.A452A(2)		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)			ATGACAACGCGCCTGCGTTCG	0.682000													40	147					0	0	0.104719	0	0
TYW1B	441250	broad.mit.edu	37	7	72093896	72093896	+	RNA	SNP	C	C	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr7:72093896C>T	ENST00000343721.5	-	0	776				TYW1B_ENST00000438125.1_RNA|TYW1B_ENST00000435769.2_RNA			Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity										AGTCAGGATTCCCCAGGGACA	0.537000													3	26					0	0	0.004672	0	0
POTEC	388468	broad.mit.edu	37	18	14513675	14513675	+	Missense_Mutation	SNP	T	T	C			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr18:14513675T>C	ENST00000358970.5	-	10	1518	c.1519A>G	c.(1519-1521)Aaa>Gaa	p.K507E		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	507								p.K507E(2)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						GAATTCATTTTCTTTTCAGCC	0.284000													3	62					0	0	0.004672	0	0
TACC2	10579	broad.mit.edu	37	10	123843281	123843281	+	Silent	SNP	C	C	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr10:123843281C>T	ENST00000369005.1	+	4	1606	c.1266C>T	c.(1264-1266)ctC>ctT	p.L422L	TACC2_ENST00000453444.2_Silent_p.L422L|TACC2_ENST00000515603.1_Silent_p.L422L|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515273.1_Silent_p.L422L|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000334433.3_Silent_p.L422L	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	422						microtubule organizing center|nucleus	nuclear hormone receptor binding	p.L422L(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CTTCAAGCCTCGCTTCATTCC	0.557000													42	109					0	0	0.048971	0	0
HIST2H2BF	440689	broad.mit.edu	37	1	149783666	149783666	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr1:149783666G>C	ENST00000427880.2	-	1	259	c.213C>G	c.(211-213)ttC>ttG	p.F71L	HIST2H2BF_ENST00000469483.1_5'UTR|HIST2H2BF_ENST00000369167.1_Missense_Mutation_p.F71L|HIST2H2BF_ENST00000545683.1_Missense_Mutation_p.F71L			Q5QNW6	H2B2F_HUMAN	histone cluster 2, H2bf	71					nucleosome assembly	nucleosome|nucleus	DNA binding	p.F71L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Breast(34;0.0124)|all_hematologic(923;0.127)					CGATGCGCTCGAAGATGTCGT	0.627000													41	262					0	0	0.048971	0	0
C2orf68	388969	broad.mit.edu	37	2	85838764	85838764	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr2:85838764delG	ENST00000409734.3	-	2	300	c.253delC	c.(253-255)cagfs	p.Q85fs	C2orf68_ENST00000478626.1_Intron|USP39_ENST00000459775.1_Intron|C2orf68_ENST00000306336.5_Intron			Q2NKX9	CB068_HUMAN	chromosome 2 open reading frame 68	0										breast(1)|central_nervous_system(1)|endometrium(1)	3						CGCGCGGGCTGGAGGCAGGCG	0.662													2	4	---	---	---	---					
SPATA31A1	647060	broad.mit.edu	37	9	39361282	39361283	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr9:39361282_39361283insT	ENST00000377647.3	+	4	3549_3550	c.3520_3521insT	c.(3520-3522)attfs	p.I1174fs		NM_001085452.1	NP_001078921.1			SPATA31 subfamily A, member 1																		TTTTCAGTGGATTTTTTCAAAG	0.446													32	19	---	---	---	---					
RP11-24M17.5	0	broad.mit.edu	37	15	76072941	76072941	+	RNA	DEL	C	C	-			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr15:76072941delC	ENST00000395215.3	+	0	365																											ATCTCGGCCTCCCCCTAGTAA	0.537													72	71	---	---	---	---					
EDC4	23644	broad.mit.edu	37	16	67911712	67911712	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr16:67911712delC	ENST00000358933.5	+	7	1097	c.858delC	c.(856-858)atcfs	p.I286fs	EDC4_ENST00000574770.1_3'UTR	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	286					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		TTAGCCAGATCAAGCAGGGCT	0.582													55	86	---	---	---	---					
ROCK1P1	727758	broad.mit.edu	37	18	112402	112405	+	RNA	DEL	AACC	AACC	-	rs113232824		TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr18:112402_112405delAACC	ENST00000608049.1	+	0	389					NR_033770.1																						CCCTGCCCCGAACCACCCGACCCC	0.711													5	10	---	---	---	---					
PHLPP1	23239	broad.mit.edu	37	18	60562283	60562283	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr18:60562283delT	ENST00000400316.4	+	5	2351	c.570delT	c.(568-570)catfs	p.H190fs	PHLPP1_ENST00000262719.5_Frame_Shift_Del_p.H702fs	NM_194449.3	NP_919431.2	O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	702					apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(2)|lung(13)	17						CCAATAATCATTTAGGGGACT	0.438													18	28	---	---	---	---					
LINC01036	104169671	broad.mit.edu	37	1	187272852	187272859	+	RNA	DEL	CTTCCTTC	CTTCCTTC	-	rs71695338		TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr1:187272852_187272859delCTTCCTTC	ENST00000458683.1	+	0	179																											tctttcctttcttccttccttccttcct	0.346													7	12	---	---	---	---					
SPATA31A1	647060	broad.mit.edu	37	9	39361282	39361283	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr9:39361282_39361283insT	ENST00000377647.3	+	4	3549_3550	c.3520_3521insT	c.(3520-3522)attfs	p.I1174fs		NM_001085452.1	NP_001078921.1			SPATA31 subfamily A, member 1																		TTTTCAGTGGATTTTTTCAAAG	0.446													32	19	---	---	---	---					
SPATA31A2	642265	broad.mit.edu	37	9	39890533	39890534	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr9:39890533_39890534insT	ENST00000456183.2	+	4	3549_3550	c.3520_3521insT	c.(3520-3522)attfs	p.I1174fs		NM_001040065.1	NP_001035154.1			SPATA31 subfamily A, member 2																		TTTTCAGTGGATTTTTTCAAAG	0.446													6	3	---	---	---	---					
RP11-24M17.5	0	broad.mit.edu	37	15	76072941	76072941	+	RNA	DEL	C	C	-			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr15:76072941delC	ENST00000395215.3	+	0	365																											ATCTCGGCCTCCCCCTAGTAA	0.537													72	71	---	---	---	---					
EDC4	23644	broad.mit.edu	37	16	67911712	67911712	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr16:67911712delC	ENST00000358933.5	+	7	1097	c.858delC	c.(856-858)atcfs	p.I286fs	EDC4_ENST00000574770.1_3'UTR	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	286					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		TTAGCCAGATCAAGCAGGGCT	0.582													55	86	---	---	---	---					
PHLPP1	23239	broad.mit.edu	37	18	60562283	60562283	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr18:60562283delT	ENST00000400316.4	+	5	2351	c.570delT	c.(568-570)catfs	p.H190fs	PHLPP1_ENST00000262719.5_Frame_Shift_Del_p.H702fs	NM_194449.3	NP_919431.2	O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	702					apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(2)|lung(13)	17						CCAATAATCATTTAGGGGACT	0.438													18	28	---	---	---	---					
CNN2	1265	broad.mit.edu	37	19	1037646	1037646	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chr19:1037646delC	ENST00000263097.4	+	7	1040	c.677delC	c.(676-678)accfs	p.T226fs	CNN2_ENST00000606983.1_3'UTR|CNN2_ENST00000565096.2_Frame_Shift_Del_p.T215fs|CNN2_ENST00000348419.3_Frame_Shift_Del_p.T187fs|CNN2_ENST00000562958.2_Frame_Shift_Del_p.T247fs	NM_004368.2	NP_004359.1	Q99439	CNN2_HUMAN	calponin 2	226					actomyosin structure organization|cellular response to mechanical stimulus|regulation of actin filament-based process	cell-cell junction|stress fiber	actin binding|calmodulin binding			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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)		GCTCCCGGGACCCGGCGGCAC	0.632													7	412	---	---	---	---					
NUDT11	55190	broad.mit.edu	37	X	51239296	51239309	+	Translation_Start_Site	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-	rs78182391		TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	7f26857a-3586-4bce-aa3b-97cc3a407c14	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	ENST00000375992.3	-	0	139_152					NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11							cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)			3	6	---	---	---	---					
