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
EHBP1L1	254102	broad.mit.edu	37	11	65349567	65349567	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr11:65349567C>T	ENST00000309295.4	+	9	1689	c.1424C>T	c.(1423-1425)cCc>cTc	p.P475L		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	475										central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						GATGAGGCTCCCTCAGGCCTG	0.687000													15	15					0	0	0.000308642	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882591	228882591	+	Silent	SNP	C	C	T			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr2:228882591C>T	ENST00000392056.3	-	7	3025	c.2979G>A	c.(2977-2979)agG>agA	p.R993R	SPHKAP_ENST00000344657.5_Silent_p.R993R	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	993						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GCTTGTGTTTCCTCACAGCGG	0.537000													24	46					0	0	0.000720815	0	0
KCNJ6	3763	broad.mit.edu	37	21	39212975	39212975	+	Silent	SNP	G	G	A			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr21:39212975G>A	ENST00000400482.3	-	2	599	c.10C>T	c.(10-12)Ctg>Ttg	p.L4L	KCNJ6_ENST00000288309.6_Silent_p.L4L	NM_002240.3	NP_002231.1	P48051	IRK6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6	4					synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	GATTCTGTCAGCTTGGCCATT	0.338000													192	326					0	0	0.000781405	0	0
KIAA2022	340533	broad.mit.edu	37	X	73963454	73963454	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chrX:73963454C>T	ENST00000373468.1	-	3	1589	c.938G>A	c.(937-939)cGa>cAa	p.R313Q	KIAA2022_ENST00000055682.5_Missense_Mutation_p.R313Q			Q5QGS0	K2022_HUMAN	KIAA2022	313					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GGATTCATATCGAATTTTCAG	0.423000													34	131					0	0	0.00111076	0	0
KDM5A	5927	broad.mit.edu	37	12	402016	402016	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr12:402016G>A	ENST00000399788.2	-	27	5137	c.4775C>T	c.(4774-4776)cCc>cTc	p.P1592L	KDM5A_ENST00000540838.1_5'UTR|KDM5A_ENST00000382815.4_Missense_Mutation_p.P1592L	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	1592					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						ATACTTTGAGGGGATGTCCAG	0.483000			T	NUP98	AML								41	87					0	0	0.00170553	0	0
PRKAG3	53632	broad.mit.edu	37	2	219694899	219694899	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr2:219694899C>T	ENST00000439262.2	-	4	455	c.360G>A	c.(358-360)tgG>tgA	p.W120*	PRKAG3_ENST00000392098.3_Nonsense_Mutation_p.W145*|PRKAG3_ENST00000545803.1_5'UTR|PRKAG3_ENST00000529249.1_Nonsense_Mutation_p.W145*	NM_017431.2	NP_059127.2	Q9UGI9	AAKG3_HUMAN	protein kinase, AMP-activated, gamma 3 non-catalytic subunit	145					cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation	cytosol	AMP-activated protein kinase activity|protein kinase binding			large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCTCACACTCCCAGGCCTCTG	0.637000													14	21					0	0	0.00185496	0	0
RABGAP1L	9910	broad.mit.edu	37	1	174200433	174200433	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr1:174200433C>T	ENST00000251507.4	+	4	656	c.482C>T	c.(481-483)tCc>tTc	p.S161F	RABGAP1L_ENST00000367689.3_5'UTR|RABGAP1L_ENST00000357444.6_Missense_Mutation_p.S124F	NM_014857.4	NP_055672.3	Q5R372	RBG1L_HUMAN	RAB GTPase activating protein 1-like	161	PID.				regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity			NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						ATGAAATCTTCCAGTCAATAC	0.383000													109	38					0	0	0.000781405	0	0
KDM5A	5927	broad.mit.edu	37	12	402015	402015	+	Silent	SNP	G	G	A			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr12:402015G>A	ENST00000399788.2	-	27	5138	c.4776C>T	c.(4774-4776)ccC>ccT	p.P1592P	KDM5A_ENST00000540838.1_5'UTR|KDM5A_ENST00000382815.4_Silent_p.P1592P	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	1592					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						CATACTTTGAGGGGATGTCCA	0.478000			T	NUP98	AML								39	86					0	0	0.00128727	0	0
MYOF	26509	broad.mit.edu	37	10	95161231	95161231	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr10:95161231G>A	ENST00000371501.4	-	12	1183	c.1061C>T	c.(1060-1062)gCc>gTc	p.A354V	MYOF_ENST00000359263.4_Missense_Mutation_p.A354V|MYOF_ENST00000358334.5_Missense_Mutation_p.A354V|MYOF_ENST00000371502.4_Missense_Mutation_p.A354V|MYOF_ENST00000371489.1_Missense_Mutation_p.A354V			Q9NZM1	MYOF_HUMAN	myoferlin	354	C2 3.				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CCACCGGAGGGCAATGCCAGC	0.443000													29	15					0	0	0.00106085	0	0
CR2	1380	broad.mit.edu	37	1	207644140	207644140	+	Silent	SNP	C	C	T			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr1:207644140C>T	ENST00000367057.3	+	7	1470	c.1281C>T	c.(1279-1281)gtC>gtT	p.V427V	CR2_ENST00000458541.2_Silent_p.V427V|CR2_ENST00000367059.3_Silent_p.V427V|CR2_ENST00000367058.3_Silent_p.V427V	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	427	Sushi 7.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						GACACATGGTCCGCTTTGACC	0.443000													51	13					0	0	0.000781405	0	0
EPB41L2	2037	broad.mit.edu	37	6	131201339	131201339	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr6:131201339G>A	ENST00000337057.3	-	13	2022	c.1841C>T	c.(1840-1842)tCc>tTc	p.S614F	EPB41L2_ENST00000529208.1_Intron|EPB41L2_ENST00000525271.1_Intron|EPB41L2_ENST00000445890.2_Intron|EPB41L2_ENST00000527659.1_Intron|EPB41L2_ENST00000368128.2_Missense_Mutation_p.S614F|EPB41L2_ENST00000392427.3_Intron|EPB41L2_ENST00000524581.1_Intron|EPB41L2_ENST00000530481.1_Intron|EPB41L2_ENST00000531410.1_Missense_Mutation_p.S13F|EPB41L2_ENST00000530757.1_Missense_Mutation_p.S13F|EPB41L2_ENST00000528282.1_Intron|EPB41L2_ENST00000527411.1_Intron|EPB41L2_ENST00000525193.1_Intron	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	614	Spectrin--actin-binding.				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		TACTCTCAAGGAATTTTTCTG	0.383000													5	17					0	0	0.000602214	0	0
FAM47B	170062	broad.mit.edu	37	X	34962607	34962607	+	Silent	SNP	C	C	T			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chrX:34962607C>T	ENST00000329357.5	+	1	1695	c.1659C>T	c.(1657-1659)ttC>ttT	p.F553F		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	553										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						CATGGTACTTCGAGCCTAAGT	0.488000													53	35					0	0	0.000781405	0	0
RP3-368A4.5	0	broad.mit.edu	37	X	73423472	73423472	+	RNA	SNP	C	C	T			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chrX:73423472C>T	ENST00000603037.1	-	0	488																											TGAACGAAGTCCTTTCCCACT	0.443000													19	31					0	0	0.00074312	0	0
HRASLS	57110	broad.mit.edu	37	3	192980846	192980846	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr3:192980846G>A	ENST00000264735.2	+	3	636	c.542G>A	c.(541-543)gGa>gAa	p.G181E	HRASLS_ENST00000602513.1_Missense_Mutation_p.G76E	NM_020386.4	NP_065119.2	Q9HDD0	HRSL1_HUMAN	HRAS-like suppressor	76										breast(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	10	all_cancers(143;9.1e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000159)		GATGTTGTGGGAAATGACACA	0.433000													56	33					0	0	0.000781405	0	0
IRGC	56269	broad.mit.edu	37	19	44223374	44223374	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr19:44223374C>T	ENST00000244314.5	+	2	863	c.664C>T	c.(664-666)Cgc>Tgc	p.R222C		NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	222						membrane	GTP binding|hydrolase activity, acting on acid anhydrides			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				CTCGCCGGCCCGCTACGACTT	0.701000													13	15					0	0	0.00185496	0	0
STIL	6491	broad.mit.edu	37	1	47746773	47746773	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr1:47746773G>A	ENST00000360380.3	-	13	1720	c.1357C>T	c.(1357-1359)Cct>Tct	p.P453S	STIL_ENST00000337817.5_Missense_Mutation_p.P453S|STIL_ENST00000371877.3_Missense_Mutation_p.P453S|STIL_ENST00000396221.2_Missense_Mutation_p.P453S|STIL_ENST00000243182.6_Missense_Mutation_p.P453S			Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	453					cell proliferation|multicellular organismal development	centrosome|cytosol				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				ATCAAAGGAGGATTTTCATTA	0.428000													49	68					0	0	0.000781405	0	0
STAT4	6775	broad.mit.edu	37	2	191903927	191903927	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr2:191903927G>T	ENST00000392320.2	-	16	1746	c.1432C>A	c.(1432-1434)Cag>Aag	p.Q478K	STAT4_ENST00000358470.4_Missense_Mutation_p.Q478K|STAT4_ENST00000470708.1_5'UTR	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	478					JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			GAGTCTACCTGGGAATCGTTG	0.433000													7	79					0.000157383	0.00309253	0.000157383	1	0
TAS2R39	259285	broad.mit.edu	37	7	142881273	142881273	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr7:142881273G>A	ENST00000446620.1	+	1	762	c.762G>A	c.(760-762)atG>atA	p.M254I		NM_176881.2	NP_795362.2	P59534	T2R39_HUMAN	taste receptor, type 2, member 39	254					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	Melanoma(164;0.059)					ACCCCAGCATGGAGGCTCACA	0.488000													31	113					0	0	0.00111076	0	0
AIFM3	150209	broad.mit.edu	37	22	21331325	21331325	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr22:21331325A>T	ENST00000399167.2	+	14	1463	c.1223A>T	c.(1222-1224)aAg>aTg	p.K408M	AIFM3_ENST00000465606.1_3'UTR|AIFM3_ENST00000399163.2_Missense_Mutation_p.K408M|AIFM3_ENST00000440238.2_Missense_Mutation_p.K408M|AIFM3_ENST00000405089.1_Missense_Mutation_p.K414M|AIFM3_ENST00000335375.5_Missense_Mutation_p.K396M|AIFM3_ENST00000333607.6_Missense_Mutation_p.K408M	NM_144704.2	NP_653305.1			apoptosis-inducing factor, mitochondrion-associated, 3											breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CCACAGCTGAAGGAGGTTGTG	0.617000													22	27					0	0	0.00047179	0	0
DNM2	1785	broad.mit.edu	37	19	10940994	10940994	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr19:10940994C>T	ENST00000314646.5	+	20	2647	c.2483C>T	c.(2482-2484)cCg>cTg	p.P828L	DNM2_ENST00000408974.4_Missense_Mutation_p.P824L|DNM2_ENST00000389253.4_Missense_Mutation_p.P828L|DNM2_ENST00000359692.6_Missense_Mutation_p.P824L|DNM2_ENST00000355667.6_Missense_Mutation_p.P828L|DNM2_ENST00000585892.1_Missense_Mutation_p.P828L			P50570	DYN2_HUMAN	dynamin 2	828	Pro-rich.				G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			TTCCCAGCCCCGCCTCAGATC	0.677000			"""F, N, Splice, Mis, O"""		ETP ALL								30	27					0	0	0.00178596	0	0
CFC1	55997	broad.mit.edu	37	2	131356273	131356273	+	Silent	SNP	C	C	T			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr2:131356273C>T	ENST00000259216.4	-	3	451	c.189G>A	c.(187-189)ggG>ggA	p.G63G		NM_032545.3	NP_115934.1	P0CG37	CFC1_HUMAN	cripto, FRL-1, cryptic family 1	63					determination of left/right symmetry|gastrulation	anchored to membrane|extracellular region|plasma membrane				endometrium(1)|lung(4)	5	Colorectal(110;0.1)					CCTCGGCGCTCCCAGTCACCT	0.617000													13	55					0	0	0.00074312	0	0
DCC	1630	broad.mit.edu	37	18	51025778	51025778	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr18:51025778C>T	ENST00000442544.2	+	27	4625	c.4009C>T	c.(4009-4011)Cga>Tga	p.R1337*	RP11-671P2.1_ENST00000582064.1_RNA|DCC_ENST00000581580.1_Nonsense_Mutation_p.R970*	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	1337					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		AGCTTGTGTTCGACCAACTCA	0.532000													30	56					0	0	0.00209593	0	0
LMAN2	10960	broad.mit.edu	37	5	176759165	176759165	+	Silent	SNP	G	G	A			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr5:176759165G>A	ENST00000303127.7	-	8	1197	c.993C>T	c.(991-993)ctC>ctT	p.L331L	LMAN2_ENST00000515209.1_3'UTR	NM_006816.2	NP_006807.1	Q12907	LMAN2_HUMAN	lectin, mannose-binding 2	331					protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	metal ion binding|sugar binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGATGCCCAGGAGAGCGCACA	0.687000													16	16					0	0	0.000958276	0	0
TIAM2	26230	broad.mit.edu	37	6	155469378	155469378	+	Silent	SNP	G	G	A			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr6:155469378G>A	ENST00000461783.3	+	9	3211	c.1938G>A	c.(1936-1938)aaG>aaA	p.K646K	TIAM2_ENST00000360366.4_Silent_p.K646K|TIAM2_ENST00000529824.2_Silent_p.K646K|TIAM2_ENST00000456144.1_Silent_p.K646K|TIAM2_ENST00000318981.5_Silent_p.K646K|TIAM2_ENST00000367174.2_5'UTR			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	646					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	p.K646N(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		TGCTTCAGAAGATAGACATGG	0.502000													19	25					0	0	0.00121646	0	0
CCDC129	223075	broad.mit.edu	37	7	31682949	31682949	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr7:31682949C>G	ENST00000319386.3	+	11	2514	c.1521C>G	c.(1519-1521)gaC>gaG	p.D507E	CCDC129_ENST00000409210.1_Missense_Mutation_p.D563E|CCDC129_ENST00000407970.3_Missense_Mutation_p.D655E|CCDC129_ENST00000451887.2_Missense_Mutation_p.D681E			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	655										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						ATGCAACTGACCTTGCTCAAA	0.488000													40	40					0	0	0.000680045	0	0
PPT2-EGFL8	100532746	broad.mit.edu	37	6	32122816	32122816	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr6:32122816G>T	ENST00000422437.1	+	3	384	c.193G>T	c.(193-195)Ggg>Tgg	p.G65W	PPT2_ENST00000375143.2_Missense_Mutation_p.G65W|PPT2_ENST00000445576.2_Missense_Mutation_p.G65W|PPT2_ENST00000324816.6_Missense_Mutation_p.G65W|PPT2_ENST00000395523.1_Missense_Mutation_p.G65W|PPT2_ENST00000437001.2_Intron|PPT2_ENST00000493548.1_3'UTR|PPT2_ENST00000375137.2_Missense_Mutation_p.G65W|PPT2-EGFL8_ENST00000453656.2_3'UTR|PPT2_ENST00000361568.2_Missense_Mutation_p.G71W																							GACACACCCCGGGACTGTGGT	0.622000													8	177					0.000157383	0.00309253	0.000157383	1	0
PCDH10	57575	broad.mit.edu	37	4	134072765	134072765	+	Silent	SNP	G	G	A			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr4:134072765G>A	ENST00000264360.4	+	1	2296	c.1470G>A	c.(1468-1470)cgG>cgA	p.R490R		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	490	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CCACCGACCGGGATGAGGGCG	0.592000													25	44					0	0	0.00047179	0	0
NFIX	4784	broad.mit.edu	37	19	13184813	13184813	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr19:13184813G>A	ENST00000358552.3	+	4	788	c.788G>A	c.(787-789)cGg>cAg	p.R263Q	NFIX_ENST00000360105.4_Missense_Mutation_p.R267Q|NFIX_ENST00000592199.1_Missense_Mutation_p.R264Q|NFIX_ENST00000588228.1_Missense_Mutation_p.R217Q|NFIX_ENST00000587260.1_Missense_Mutation_p.R263Q|NFIX_ENST00000397661.2_Missense_Mutation_p.R264Q|NFIX_ENST00000585575.1_Missense_Mutation_p.R256Q|NFIX_ENST00000587760.1_Missense_Mutation_p.R256Q|NFIX_ENST00000588680.1_3'UTR			Q14938	NFIX_HUMAN	nuclear factor I/X (CCAAT-binding transcription factor)	264					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)			CTGGGGCGGCGGTCCATCACC	0.627000													23	46					0	0	0.00106085	0	0
IPCEF1	26034	broad.mit.edu	37	6	154544362	154544362	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr6:154544362C>T	ENST00000265198.4	-	6	414	c.259G>A	c.(259-261)Gga>Aga	p.G87R	IPCEF1_ENST00000367220.4_Missense_Mutation_p.G88R|IPCEF1_ENST00000519344.1_Missense_Mutation_p.G59R|OPRM1_ENST00000337049.4_Intron|IPCEF1_ENST00000422970.2_Missense_Mutation_p.G88R	NM_001130700.1|NM_015553.2	NP_001124172.1|NP_056368.1			interaction protein for cytohesin exchange factors 1											breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	12						TTGACAAATCCATCAGCTTTC	0.398000													5	27					0	0	0.00198382	0	0
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr22:29091841G>A	ENST00000544772.1	-	12	1889	c.453C>T	c.(451-453)tcC>tcT	p.S151S	CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000404276.1_Silent_p.S372S	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	372	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					5	60					0	0	0.000274275	0	0
CARTPT	9607	broad.mit.edu	37	5	71016376	71016376	+	Silent	SNP	G	G	A			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr5:71016376G>A	ENST00000296777.4	+	3	416	c.285G>A	c.(283-285)agG>agA	p.R95R	CARTPT_ENST00000513096.1_3'UTR	NM_004291.3	NP_004282.1	Q16568	CART_HUMAN	CART prepropeptide	95					activation of MAPKK activity|adult feeding behavior|cellular glucose homeostasis|cellular response to starvation|circadian regulation of gene expression|negative regulation of appetite|negative regulation of bone resorption|negative regulation of osteoclast differentiation|neuropeptide signaling pathway|positive regulation of blood pressure|positive regulation of epinephrine secretion|positive regulation of transmission of nerve impulse|synaptic transmission	extracellular space				large_intestine(1)|lung(2)|ovary(1)	4		Lung NSC(167;0.00153)|Ovarian(174;0.0175)|Prostate(74;0.11)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;8.4e-56)	Amphetamine(DB00182)	AAGGGGCAAGGATCGGGAAGC	0.532000													6	18					0	0	0.00116845	0	0
AAED1	195827	broad.mit.edu	37	9	99408252	99408252	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr9:99408252C>T	ENST00000375234.3	-	5	475	c.476G>A	c.(475-477)tGg>tAg	p.W159*		NM_153698.1	NP_714542.1	Q7RTV5	CI021_HUMAN	AhpC/TSA antioxidant enzyme domain containing 1	159							antioxidant activity|oxidoreductase activity										CACTGCCCGCCACAGGCTCTG	0.453000													46	67					0	0	0.00222228	0	0
SCN2A	6326	broad.mit.edu	37	2	166231233	166231233	+	Silent	SNP	C	C	T			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr2:166231233C>T	ENST00000375437.2	+	22	4301	c.4011C>T	c.(4009-4011)atC>atT	p.I1337I	SCN2A_ENST00000375427.2_Silent_p.I1337I|SCN2A_ENST00000357398.3_Silent_p.I1337I|SCN2A_ENST00000283256.6_Silent_p.I1337I	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1337					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	TTCCATCTATCATGAATGTAC	0.343000													31	73					0	0	0.0024448	0	0
DEAF1	10522	broad.mit.edu	37	11	654046	654046	+	Silent	SNP	G	G	A			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr11:654046G>A	ENST00000382409.3	-	11	1993	c.1509C>T	c.(1507-1509)tcC>tcT	p.S503S	DEAF1_ENST00000525904.1_5'UTR|DEAF1_ENST00000338675.6_Silent_p.S428S	NM_021008.2	NP_066288.2	O75398	DEAF1_HUMAN	DEAF1 transcription factor	503					embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|extracellular region|nucleus	protein binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)		AGTTAACGCAGGACTGCTGCA	0.622000													12	14					0	0	0.000978159	0	0
NAV3	89795	broad.mit.edu	37	12	78225316	78225316	+	Silent	SNP	G	G	A			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr12:78225316G>A	ENST00000397909.2	+	1	248	c.75G>A	c.(73-75)ccG>ccA	p.P25P	NAV3_ENST00000536525.2_Silent_p.P25P|NAV3_ENST00000266692.7_Silent_p.P25P|NAV3_ENST00000228327.6_Silent_p.P25P			Q8IVL0	NAV3_HUMAN	neuron navigator 3	25						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CTGCTCTTCCGATACCAAATC	0.463000										HNSCC(70;0.22)			52	104					0	0	0.000781405	0	0
SPEF2	79925	broad.mit.edu	37	5	35793345	35793345	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr5:35793345C>T	ENST00000440995.2	+	32	4624	c.4624C>T	c.(4624-4626)Ccc>Tcc	p.P1542S	SPEF2_ENST00000303129.4_Missense_Mutation_p.P344S|SPEF2_ENST00000356031.3_Missense_Mutation_p.P1547S|CTD-2113L7.1_ENST00000510433.1_RNA			Q9C093	SPEF2_HUMAN	sperm flagellar 2	1547					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AATGCCTTGGCCCATTCCCTT	0.468000													30	59					0	0	0.00178596	0	0
NHLH1	4807	broad.mit.edu	37	1	160340839	160340839	+	Silent	SNP	C	C	T			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr1:160340839C>T	ENST00000302101.5	+	2	764	c.318C>T	c.(316-318)ccC>ccT	p.P106P		NM_005598.3	NP_005589.1	Q02575	HEN1_HUMAN	nescient helix loop helix 1	106	Helix-loop-helix motif.				cell differentiation|central nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	7	all_cancers(52;7.11e-19)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CTACGCTGCCCCCCGACAAGA	0.617000													26	27					0	0	0.000878237	0	0
RP3-368A4.5	0	broad.mit.edu	37	X	73423469	73423469	+	RNA	SNP	A	A	C			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chrX:73423469A>C	ENST00000603037.1	-	0	491																											CTATGAACGAAGTCCTTTCCC	0.443000													18	30					0	0	0.000566183	0	0
ZNF385B	151126	broad.mit.edu	37	2	180348096	180348096	+	Silent	SNP	C	C	T			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr2:180348096C>T	ENST00000410066.1	-	6	1176	c.573G>A	c.(571-573)acG>acA	p.T191T	ZNF385B_ENST00000409343.1_Silent_p.T115T|ZNF385B_ENST00000409692.1_Silent_p.T89T|ZNF385B_ENST00000466398.1_5'UTR|ZNF385B_ENST00000336917.5_Silent_p.T89T	NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B	191						nucleus	nucleic acid binding|zinc ion binding	p.T191T(1)		breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			GTTTATTTTTCGTTGCGTCTA	0.468000													19	30					0	0	0.00121646	0	0
MLF2	8079	broad.mit.edu	37	12	6859170	6859170	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr12:6859170G>A	ENST00000203630.5	-	7	1047	c.403C>T	c.(403-405)Cgg>Tgg	p.R135W	MLF2_ENST00000435120.1_Missense_Mutation_p.R135W|MLF2_ENST00000539187.1_Missense_Mutation_p.R135W|MLF2_ENST00000542154.1_Missense_Mutation_p.R135W			Q15773	MLF2_HUMAN	myeloid leukemia factor 2	135					defense response	cytoplasm|nucleus	protein binding			kidney(2)|large_intestine(3)|lung(4)	9						CGTGTCTCCCGGATCTGGGAT	0.582000													11	21					0	0	0.00136819	0	0
NXF3	56000	broad.mit.edu	37	X	102339391	102339391	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chrX:102339391T>C	ENST00000395065.3	-	3	331	c.230A>G	c.(229-231)aAa>aGa	p.K77R	NXF3_ENST00000425644.1_5'UTR|NXF3_ENST00000425463.2_5'UTR	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	77						cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						AAAACTGCCTTTCCGATTATA	0.433000													50	122					0	0	0.000781405	0	0
COL5A3	50509	broad.mit.edu	37	19	10079359	10079359	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr19:10079359C>T	ENST00000264828.3	-	58	4283	c.4198G>A	c.(4198-4200)Ggg>Agg	p.G1400R		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1400	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			ACCTTTTCCCCCTTGGGGCCA	0.577000													8	15					0	0	0.000442599	0	0
MLF2	8079	broad.mit.edu	37	12	6859171	6859171	+	Silent	SNP	G	G	A			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr12:6859171G>A	ENST00000203630.5	-	7	1046	c.402C>T	c.(400-402)atC>atT	p.I134I	MLF2_ENST00000435120.1_Silent_p.I134I|MLF2_ENST00000539187.1_Silent_p.I134I|MLF2_ENST00000542154.1_Silent_p.I134I			Q15773	MLF2_HUMAN	myeloid leukemia factor 2	134					defense response	cytoplasm|nucleus	protein binding			kidney(2)|large_intestine(3)|lung(4)	9						GTGTCTCCCGGATCTGGGATG	0.577000													10	21					0	0	0.000978159	0	0
WWC2	80014	broad.mit.edu	37	4	184210777	184210777	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr4:184210777G>A	ENST00000403733.3	+	21	3572	c.3373G>A	c.(3373-3375)Gct>Act	p.A1125T	WWC2_ENST00000448232.2_Missense_Mutation_p.A1149T|WWC2_ENST00000508747.1_Missense_Mutation_p.A253T|WWC2_ENST00000504005.1_Missense_Mutation_p.A807T|WWC2_ENST00000513834.1_Missense_Mutation_p.A1076T	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	1125										NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		TCTGAAGCAAGCTGAGAAGCA	0.527000													17	43					0	0	0.00152264	0	0
TMEM164	84187	broad.mit.edu	37	X	109247307	109247307	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chrX:109247307C>A	ENST00000372073.1	+	2	641	c.305C>A	c.(304-306)aCc>aAc	p.T102N	TMEM164_ENST00000372068.2_Missense_Mutation_p.T102N|TMEM164_ENST00000288381.4_Missense_Mutation_p.T102N|TMEM164_ENST00000372072.3_Intron			Q5U3C3	TM164_HUMAN	transmembrane protein 164	102						integral to membrane				cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|skin(1)	14						CTGTGCCTGACCTTCGGGGTG	0.587000													50	41					1.61863e-15	3.32898e-14	0.000781405	1	0
THBS2	7058	broad.mit.edu	37	6	169637839	169637839	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr6:169637839G>A	ENST00000366787.3	-	9	1430	c.1181C>T	c.(1180-1182)tCc>tTc	p.S394F	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	394	TSP type-1 1.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		ACACGTCACGGAGCACTGGGT	0.652000													13	16					0	0	0.000308642	0	0
DENND5B	160518	broad.mit.edu	37	12	31577541	31577541	+	Silent	SNP	C	C	T			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr12:31577541C>T	ENST00000389082.5	-	10	2583	c.2319G>A	c.(2317-2319)gaG>gaA	p.E773E	DENND5B_ENST00000536562.1_Silent_p.E808E|DENND5B_ENST00000306833.6_Silent_p.E808E	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	773	RUN 1.					integral to membrane				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						AGGTGTTCTCCTCCAGGCCGG	0.517000													62	89					0	0	0.000781405	0	0
INHBC	3626	broad.mit.edu	37	12	57843480	57843480	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr12:57843480G>A	ENST00000309668.2	+	2	861	c.734G>A	c.(733-735)aGg>aAg	p.R245K	INHBC_ENST00000550133.1_Intron	NM_005538.2	NP_005529.1	P55103	INHBC_HUMAN	inhibin, beta C	245					growth	extracellular region	growth factor activity|hormone activity|transforming growth factor beta receptor binding			breast(2)|endometrium(1)|large_intestine(6)|liver(2)|lung(4)|prostate(1)	16						GGAGGGTCCAGGATGTGCTGT	0.577000													21	20					0	0	0.00152264	0	0
TDRD3	81550	broad.mit.edu	37	13	61102738	61102738	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr13:61102738C>T	ENST00000196169.3	+	11	1888	c.1100C>T	c.(1099-1101)tCt>tTt	p.S367F	TDRD3_ENST00000535286.1_Missense_Mutation_p.S460F|TDRD3_ENST00000377881.2_Missense_Mutation_p.S367F|TDRD3_ENST00000377894.2_Missense_Mutation_p.S367F	NM_001146071.1|NM_030794.2	NP_001139543.1|NP_110421.1	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3	367					chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		TCTTCAGTATCTGAAGTATGG	0.373000													25	42					0	0	0.000720815	0	0
BACH2	60468	broad.mit.edu	37	6	90642327	90642327	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr6:90642327G>A	ENST00000257749.4	-	9	3033	c.2326C>T	c.(2326-2328)Ccc>Tcc	p.P776S	BACH2_ENST00000343122.3_Missense_Mutation_p.P776S|BACH2_ENST00000537989.1_Missense_Mutation_p.P776S	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	776						nucleus	protein dimerization activity|sequence-specific DNA binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		GGTCCGGGGGGAGCCGCGCCT	0.632000													25	36					0	0	0.000586117	0	0
SCN5A	6331	broad.mit.edu	37	3	38645368	38645368	+	Silent	SNP	C	C	T			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr3:38645368C>T	ENST00000413689.1	-	12	1918	c.1725G>A	c.(1723-1725)caG>caA	p.Q575Q	SCN5A_ENST00000450102.2_Silent_p.Q575Q|SCN5A_ENST00000451551.2_Silent_p.Q575Q|SCN5A_ENST00000333535.4_Silent_p.Q575Q|SCN5A_ENST00000425664.1_Silent_p.Q575Q|SCN5A_ENST00000449557.2_Silent_p.Q575Q|SCN5A_ENST00000455624.2_Silent_p.Q575Q|SCN5A_ENST00000443581.1_Silent_p.Q575Q|SCN5A_ENST00000423572.2_Silent_p.Q575Q|SCN5A_ENST00000414099.2_Silent_p.Q575Q	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	575					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CGGGACTGGGCTGTCCCTGGG	0.627000													33	74					0	0	0.00128727	0	0
FGD2	221472	broad.mit.edu	37	6	36995237	36995237	+	Silent	SNP	G	G	A			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr6:36995237G>A	ENST00000274963.8	+	15	1809	c.1638G>A	c.(1636-1638)ctG>ctA	p.L546L		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	546	PH 2.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						ACCAGAGCCTGATGTGCAGCT	0.622000													47	75					0	0	0.000781405	0	0
KIF21A	55605	broad.mit.edu	37	12	39760859	39760859	+	Silent	SNP	T	T	C			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr12:39760859T>C	ENST00000395670.3	-	5	1127	c.708A>G	c.(706-708)caA>caG	p.Q236Q	KIF21A_ENST00000361961.3_Silent_p.Q236Q|KIF21A_ENST00000361418.5_Silent_p.Q236Q|KIF21A_ENST00000541463.2_Silent_p.Q236Q|KIF21A_ENST00000544797.2_Silent_p.Q236Q			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	236	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				ACACTCTGGTTTGACACACAT	0.383000													27	38					0	0	0.00209593	0	0
OSBPL10	114884	broad.mit.edu	37	3	31710306	31710306	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr3:31710306C>T	ENST00000396556.2	-	10	2046	c.1924G>A	c.(1924-1926)Gaa>Aaa	p.E642K	OSBPL10_ENST00000438237.2_Missense_Mutation_p.E578K	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	642					lipid transport		lipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		TGCTTCACTTCTGCGGTAACC	0.378000													6	113					0	0	0.00198382	0	0
FGF23	8074	broad.mit.edu	37	12	4488629	4488629	+	Silent	SNP	G	G	A			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr12:4488629G>A	ENST00000237837.1	-	1	265	c.120C>T	c.(118-120)atC>atT	p.I40I		NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23	40					cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			TGTACAGGTGGATCAGGCCAC	0.602000													22	42					0	0	0.000586117	0	0
LAMB4	22798	broad.mit.edu	37	7	107738881	107738881	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr7:107738881C>T	ENST00000388781.3	-	11	1410	c.1327G>A	c.(1327-1329)Gga>Aga	p.G443R	LAMB4_ENST00000388780.3_Missense_Mutation_p.G443R|LAMB4_ENST00000205386.4_Missense_Mutation_p.G443R|LAMB4_ENST00000414450.2_Missense_Mutation_p.G443R	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	443	Laminin EGF-like 3.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						GCGCTTAGTCCGTAGTGGTTG	0.577000													27	54					0	0	0.00283554	0	0
FER1L5	90342	broad.mit.edu	37	2	97363400	97363400	+	RNA	SNP	G	G	A			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr2:97363400G>A	ENST00000457909.1	+	0	3641							A0AVI2	FR1L5_HUMAN	fer-1-like 5 (C. elegans)							integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38						CTGCCAGGATGAGTATGAGCA	0.562000													13	17					0	0	0.00136819	0	0
SEC14L4	284904	broad.mit.edu	37	22	30886142	30886142	+	Missense_Mutation	SNP	C	C	T	rs146895070	byFrequency	TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr22:30886142C>T	ENST00000392772.2	-	12	1332	c.1055G>A	c.(1054-1056)aGg>aAg	p.R352K	SEC14L4_ENST00000540456.1_Silent_p.E376E|SEC14L4_ENST00000381982.3_Intron|SEC14L4_ENST00000255858.7_Silent_p.E391E			Q9UDX3	S14L4_HUMAN	SEC14-like 4 (S. cerevisiae)	0	GOLD.					integral to membrane|intracellular	lipid binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	GCAGCGTCTCCTCAGAGGCCT	0.592000													16	34					0	0	0.000958276	0	0
SLC18A1	6570	broad.mit.edu	37	8	20004873	20004873	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr8:20004873C>T	ENST00000440926.1	-	16	1830	c.1360G>A	c.(1360-1362)Gcc>Acc	p.A454T	SLC18A1_ENST00000265808.7_Missense_Mutation_p.A422T|SLC18A1_ENST00000519026.1_Missense_Mutation_p.A422T|SLC18A1_ENST00000276373.5_Missense_Mutation_p.A454T|SLC18A1_ENST00000437980.1_Intron|SLC18A1_ENST00000381608.4_Intron	NM_001135691.2	NP_001129163.1	P54219	VMAT1_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 1	454					neurotransmitter transport	clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction	drug transmembrane transporter activity|monoamine transmembrane transporter activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29				Colorectal(74;0.0747)		AAACCGATGGCCTTTACAATG	0.537000													18	12					0	0	0.00188189	0	0
FAM193B	54540	broad.mit.edu	37	5	176951979	176951979	+	Silent	SNP	G	G	A			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr5:176951979G>A	ENST00000329540.5	-	9	3210	c.381C>T	c.(379-381)ggC>ggT	p.G127G	FAM193B_ENST00000443375.2_Silent_p.G468G|FAM193B_ENST00000514747.1_Silent_p.G501G			Q6IPW0	Q6IPW0_HUMAN	family with sequence similarity 193, member B	177										kidney(1)|large_intestine(3)	4						CCTTAGAGAAGCCATTGCTGT	0.557000													16	29					0	0	0.000566183	0	0
FFAR3	2865	broad.mit.edu	37	19	35850670	35850670	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr19:35850670G>A	ENST00000327809.4	+	2	1079	c.878G>A	c.(877-879)aGg>aAg	p.R293K	FFAR3_ENST00000594310.1_Missense_Mutation_p.R293K	NM_005304.3	NP_005295.1	O14843	FFAR3_HUMAN	free fatty acid receptor 3	293						integral to plasma membrane	G-protein coupled receptor activity|lipid binding			endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			CTGCTGAGGAGGTTGTGTGGG	0.592000													6	37					0	0	0.00178596	0	0
FRMD4B	23150	broad.mit.edu	37	3	69231777	69231777	+	Silent	SNP	G	G	T			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr3:69231777G>T	ENST00000542259.1	-	21	2300	c.1849C>A	c.(1849-1851)Cga>Aga	p.R617R	FRMD4B_ENST00000398540.3_Silent_p.R671R|FRMD4B_ENST00000478263.1_Silent_p.R323R			Q9Y2L6	FRM4B_HUMAN	FERM domain containing 4B	671						cytoplasm|cytoskeleton	binding			NS(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(2)	19		Lung NSC(201;0.0138)|Prostate(884;0.11)		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)		TAGGCGTTTCGGGTAAGAACT	0.502000													19	797					0.000375601	0.00724206	0.00278032	1	0
CLRN1	7401	broad.mit.edu	37	3	150659495	150659495	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr3:150659495G>A	ENST00000327047.1	-	2	597	c.307C>T	c.(307-309)Ctc>Ttc	p.L103F	CLRN1-AS1_ENST00000476886.1_RNA|RP11-166N6.2_ENST00000469268.1_RNA|CLRN1_ENST00000295911.2_Missense_Mutation_p.L27F|CLRN1_ENST00000328863.4_Missense_Mutation_p.L103F|RP11-166N6.3_ENST00000569170.1_Silent_p.F12F	NM_174878.2	NP_777367.1	P58418	CLRN1_HUMAN	clarin 1	103					equilibrioception|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	integral to membrane				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			GCAGAGAAGAGAATGACATTG	0.418000													16	9					0	0	0.000422831	0	0
TRBV5-1	28614	broad.mit.edu	37	7	142021110	142021110	+	RNA	SNP	G	G	A			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr7:142021110G>A	ENST00000390381.3	+	0	399																											CAAGATATCTGATCAAAACGA	0.547000													28	19					0	0	0.00209593	0	0
DIS3L2	129563	broad.mit.edu	37	2	233194675	233194675	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr2:233194675C>T	ENST00000325385.7	+	15	2168	c.1892C>T	c.(1891-1893)cCc>cTc	p.P631L	DIS3L2_ENST00000409307.1_Missense_Mutation_p.P631L|DIS3L2_ENST00000273009.6_Intron	NM_152383.4	NP_689596.4	Q8IYB7	DI3L2_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)-like 2	631							exonuclease activity|ribonuclease activity|RNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		ATGGGGCTGCCCGTGGACTTC	0.657000													24	34					0	0	0.00058488	0	0
MUC1	4582	broad.mit.edu	37	1	155160286	155160286	+	Silent	SNP	G	G	T			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr1:155160286G>T	ENST00000368395.1	-	5	1064	c.993C>A	c.(991-993)acC>acA	p.T331T	MUC1_ENST00000342482.4_Intron|MUC1_ENST00000368396.4_Intron|MUC1_ENST00000368392.3_Silent_p.T120T|MUC1_ENST00000462215.1_5'UTR|MUC1_ENST00000343256.5_Intron|MUC1_ENST00000337604.5_Silent_p.T129T|MUC1_ENST00000438413.1_Silent_p.T85T|MUC1_ENST00000368398.3_Silent_p.T86T|MUC1_ENST00000368389.2_Intron|MUC1_ENST00000457295.2_Silent_p.T120T|MUC1_ENST00000368393.3_Silent_p.T129T|MUC1_ENST00000368390.3_Silent_p.T111T|MUC1_ENST00000338684.5_Silent_p.T80T	NM_001204285.1|NM_001204286.1	NP_001191214.1|NP_001191215.1	P15941	MUC1_HUMAN	mucin 1, cell surface associated	1111	42 X 20 AA approximate tandem repeats of P-A-P-G-S-T-A-P-P-A-H-G-V-T-S-A-P-D-T-R.					apical plasma membrane|cell surface|cytoplasm|extracellular region|integral to plasma membrane|nucleus	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|skin(2)	10	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GGACATTGATGGTACCTTCTC	0.537000			T	IGH@	B-NHL								29	5					2.12542e-12	4.34232e-11	0.00106085	1	0
TMEM259	91304	broad.mit.edu	37	19	1013313	1013313	+	Silent	SNP	C	C	A			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr19:1013313C>A	ENST00000356663.3	-	3	655	c.534G>T	c.(532-534)gtG>gtT	p.V178V	TMEM259_ENST00000333175.5_Silent_p.V178V	NM_001033026.1	NP_001028198.1			transmembrane protein 259																		GCGGCTTGAACACCTTGGGCT	0.637000													21	36					4.4004e-07	8.81509e-06	0.00047179	1	0
CLCA1	1179	broad.mit.edu	37	1	86959145	86959145	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr1:86959145G>T	ENST00000234701.3	+	11	1894	c.1543G>T	c.(1543-1545)Gac>Tac	p.D515Y	CLCA1_ENST00000394711.1_Missense_Mutation_p.D515Y			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	515					calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		CGTGGGAAAGGACACTTTGTT	0.483000													49	9					7.06795e-37	1.47328e-35	0.000781405	1	0
SEL1L3	23231	broad.mit.edu	37	4	25835070	25835070	+	Splice_Site	SNP	C	C	T			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr4:25835070C>T	ENST00000399878.3	-	4	1104	c.982_splice	c.e4+1	p.G328_splice	SEL1L3_ENST00000502949.1_Splice_Site_p.G175_splice|SEL1L3_ENST00000264868.5_Splice_Site_p.G293_splice|SEL1L3_ENST00000513364.1_5'UTR	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	328						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						TTATACTCACCCTCTTCCGTA	0.373000													10	34					0	0	0.00136819	0	0
PHF2	5253	broad.mit.edu	37	9	96418822	96418822	+	Silent	SNP	C	C	T			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr9:96418822C>T	ENST00000359246.4	+	9	1459	c.1092C>T	c.(1090-1092)ccC>ccT	p.P364P	PHF2_ENST00000375376.4_Intron	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	364					liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		CTCAGTTTCCCAACTTTGAAA	0.552000													178	42					0	0	0.000781405	0	0
NFIX	4784	broad.mit.edu	37	19	13184814	13184814	+	Silent	SNP	G	G	A			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr19:13184814G>A	ENST00000358552.3	+	4	789	c.789G>A	c.(787-789)cgG>cgA	p.R263R	NFIX_ENST00000360105.4_Silent_p.R267R|NFIX_ENST00000592199.1_Silent_p.R264R|NFIX_ENST00000588228.1_Silent_p.R217R|NFIX_ENST00000587260.1_Silent_p.R263R|NFIX_ENST00000397661.2_Silent_p.R264R|NFIX_ENST00000585575.1_Silent_p.R256R|NFIX_ENST00000587760.1_Silent_p.R256R|NFIX_ENST00000588680.1_3'UTR			Q14938	NFIX_HUMAN	nuclear factor I/X (CCAAT-binding transcription factor)	264					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)			TGGGGCGGCGGTCCATCACCT	0.627000													24	45					0	0	0.00106085	0	0
TTN	7273	broad.mit.edu	37	2	179632581	179632581	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr2:179632581T>C	ENST00000589042.1	-	40	9600	c.9376A>G	c.(9376-9378)Aag>Gag	p.K3126E	TTN_ENST00000342992.6_Missense_Mutation_p.K3126E|TTN_ENST00000359218.5_Missense_Mutation_p.K3080E|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K3080E|TTN_ENST00000460472.2_Missense_Mutation_p.K3080E|TTN_ENST00000360870.5_Missense_Mutation_p.K3126E|TTN_ENST00000591111.1_Missense_Mutation_p.K3126E	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2863	Ig-like 18.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTGTGTACTTCCCAGCATCA	0.448000													27	42					0	0	0.000720815	0	0
SERPINB13	5275	broad.mit.edu	37	18	61262349	61262349	+	Silent	SNP	G	G	A			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr18:61262349G>A	ENST00000344731.5	+	7	804	c.702G>A	c.(700-702)ggG>ggA	p.G234G	SERPINB13_ENST00000269489.5_Intron	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 13	234					regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						AAATTCTAGGGATTCCATATA	0.423000													39	63					0	0	0.00148497	0	0
FBN2	2201	broad.mit.edu	37	5	127666379	127666379	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr5:127666379C>T	ENST00000508053.1	-	39	5205	c.4231G>A	c.(4231-4233)Gaa>Aaa	p.E1411K	FBN2_ENST00000507835.1_Missense_Mutation_p.E261K|FBN2_ENST00000508989.1_Missense_Mutation_p.E1378K|FBN2_ENST00000262464.4_Missense_Mutation_p.E1411K			P35556	FBN2_HUMAN	fibrillin 2	1411	EGF-like 23; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	p.E1411Q(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TTAGAACATTCGTCCAGATCT	0.428000													13	21					0	0	0.000308642	0	0
SPAG8	26206	broad.mit.edu	37	9	35811380	35811380	+	Silent	SNP	C	C	T			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr9:35811380C>T	ENST00000340291.2	-	2	787	c.663G>A	c.(661-663)gtG>gtA	p.V221V	SPAG8_ENST00000479751.1_5'UTR|SPAG8_ENST00000396638.2_Silent_p.V221V|SPAG8_ENST00000484764.1_Silent_p.V219V	NM_172312.1	NP_758516.1	Q99932	SPAG8_HUMAN	sperm associated antigen 8	221						acrosomal vesicle|membrane				NS(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)			CCCGATCTGCCACCAGGTTTC	0.582000													88	32					0	0	0.000781405	0	0
OR2T3	343173	broad.mit.edu	37	1	248637452	248637452	+	Silent	SNP	G	G	A			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr1:248637452G>A	ENST00000359594.2	+	1	826	c.801G>A	c.(799-801)ccG>ccA	p.P267P		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACATGCTCCCGAGTTCCTACC	0.547000													128	169					0	0	0.000781405	0	0
LAMA2	3908	broad.mit.edu	37	6	129609164	129609164	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr6:129609164G>A	ENST00000421865.2	+	19	2759	c.2710G>A	c.(2710-2712)Gga>Aga	p.G904R		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	904	Laminin EGF-like 8.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CTGTGCTGATGGATATTTTGG	0.478000													66	96					0	0	0.000781405	0	0
DIS3L2	129563	broad.mit.edu	37	2	233194676	233194676	+	Silent	SNP	C	C	T			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr2:233194676C>T	ENST00000325385.7	+	15	2169	c.1893C>T	c.(1891-1893)ccC>ccT	p.P631P	DIS3L2_ENST00000409307.1_Silent_p.P631P|DIS3L2_ENST00000273009.6_Intron	NM_152383.4	NP_689596.4	Q8IYB7	DI3L2_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)-like 2	631							exonuclease activity|ribonuclease activity|RNA binding	p.P631P(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		TGGGGCTGCCCGTGGACTTCA	0.652000													24	34					0	0	0.00058488	0	0
CDH20	28316	broad.mit.edu	37	18	59212367	59212367	+	Silent	SNP	G	G	A			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr18:59212367G>A	ENST00000262717.4	+	10	2036	c.1638G>A	c.(1636-1638)agG>agA	p.R546R	CDH20_ENST00000538374.1_Silent_p.R546R|CDH20_ENST00000536675.2_Silent_p.R546R			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	546	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				TTACCATAAGGGACAACCAAG	0.488000													31	72					0	0	0.00128727	0	0
ADSSL1	122622	broad.mit.edu	37	14	105201410	105201410	+	Silent	SNP	C	C	T			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr14:105201410C>T	ENST00000332972.5	+	2	534	c.375C>T	c.(373-375)ttC>ttT	p.F125F	ADSSL1_ENST00000330877.2_Silent_p.F82F	NM_199165.1	NP_954634.1	Q8N142	PURA1_HUMAN	adenylosuccinate synthase like 1	82					AMP biosynthetic process|immune system process|purine base metabolic process	cytosol	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding			central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1)	11		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)	L-Aspartic Acid(DB00128)	AGTACGACTTCCACCTGCTGC	0.612000													8	10					0	0	0.000274275	0	0
STAB1	23166	broad.mit.edu	37	3	52551984	52551984	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr3:52551984G>A	ENST00000321725.6	+	45	4802	c.4726G>A	c.(4726-4728)Ggg>Agg	p.G1576R		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1576	EGF-like 13.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CCACACCGTGGGGGACGGCCT	0.617000													25	22					0	0	0.001512	0	0
PALM2-AKAP2	445815	broad.mit.edu	37	9	112778263	112778263	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr9:112778263G>A	ENST00000374530.3	+	7	706	c.526G>A	c.(526-528)Gaa>Aaa	p.E176K	AKAP2_ENST00000555236.1_Missense_Mutation_p.E176K|AKAP2_ENST00000510514.5_Missense_Mutation_p.E176K|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.E176K	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN		0							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						GCTGCTAAAGGAAGGTGAGTC	0.453000													24	24					0	0	0.000878237	0	0
GRIK3	2899	broad.mit.edu	37	1	37267467	37267467	+	Silent	SNP	G	G	A			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr1:37267467G>A	ENST00000373091.3	-	16	2761	c.2745C>T	c.(2743-2745)gcC>gcT	p.A915A		NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	915					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	GGAACACAGGGGCTAAGGATG	0.612000													39	13					0	0	0.00222228	0	0
C6orf165	154313	broad.mit.edu	37	6	88173915	88173915	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr6:88173915G>A	ENST00000507897.1	+	13	1899	c.1816G>A	c.(1816-1818)Gaa>Aaa	p.E606K	C6orf165_ENST00000506888.1_3'UTR|C6ORF165_ENST00000369562.4_Missense_Mutation_p.E606K			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	606										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		AGGAAAGAGCGAAATCACCGA	0.458000													17	19					0	0	0.000566183	0	0
SLC8A3	6547	broad.mit.edu	37	14	70633363	70633363	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr14:70633363C>T	ENST00000381269.2	-	2	2530	c.1777G>A	c.(1777-1779)Gaa>Aaa	p.E593K	SLC8A3_ENST00000356921.2_Missense_Mutation_p.E593K|SLC8A3_ENST00000534137.1_Missense_Mutation_p.E593K|SLC8A3_ENST00000528359.1_Missense_Mutation_p.E593K|SLC8A3_ENST00000357887.3_Missense_Mutation_p.E593K	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	593	Calx-beta 2.				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		TACACAGTTTCATCATTCTTG	0.468000													12	45					0	0	0.000978159	0	0
SLC22A9	114571	broad.mit.edu	37	11	63138704	63138704	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr11:63138704C>T	ENST00000279178.3	+	2	749	c.500C>T	c.(499-501)tCa>tTa	p.S167L	SLC22A9_ENST00000310969.4_Missense_Mutation_p.S167L	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	167					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						GGTCATTTATCAGACAGGTGA	0.393000													15	33					0	0	0.000566183	0	0
DNM2	1785	broad.mit.edu	37	19	10941011	10941011	+	Silent	SNP	C	C	A			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr19:10941011C>A	ENST00000314646.5	+	20	2664	c.2500C>A	c.(2500-2502)Cgg>Agg	p.R834R	DNM2_ENST00000408974.4_Silent_p.R830R|DNM2_ENST00000389253.4_Silent_p.R834R|DNM2_ENST00000359692.6_Silent_p.R830R|DNM2_ENST00000355667.6_Silent_p.R834R|DNM2_ENST00000585892.1_Silent_p.R834R			P50570	DYN2_HUMAN	dynamin 2	834	Pro-rich.				G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			GATCCCATCTCGGCCAGTTCG	0.672000			"""F, N, Splice, Mis, O"""		ETP ALL								23	21					1.96895e-08	3.99619e-07	0.00278032	1	0
TEKT3	64518	broad.mit.edu	37	17	15234335	15234335	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr17:15234335C>T	ENST00000395930.1	-	3	754	c.568G>A	c.(568-570)Gcc>Acc	p.A190T	TEKT3_ENST00000338696.2_Missense_Mutation_p.A190T	NM_031898.2	NP_114104.1	Q9BXF9	TEKT3_HUMAN	tektin 3	190					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		TGAAGAGGGGCTTCAGTCTCC	0.368000													15	9					0	0	0.000566183	0	0
MGAM	8972	broad.mit.edu	37	7	141773958	141773958	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr7:141773958G>A	ENST00000475668.2	+	45	5314	c.5260G>A	c.(5260-5262)Gat>Aat	p.D1754N	MGAM_ENST00000549489.2_Intron			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1754	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TTTCTGGGATGATGGGCAAAC	0.453000													12	24					0	0	0.00244969	0	0
SSTR1	6751	broad.mit.edu	37	14	38678811	38678811	+	Silent	SNP	C	C	T			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr14:38678811C>T	ENST00000267377.2	+	3	834	c.217C>T	c.(217-219)Ctg>Ttg	p.L73L		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	73					digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)	CCTGGTGGGGCTGTGTGGGAA	0.567000													18	36					0	0	0.00074312	0	0
SPTB	6710	broad.mit.edu	37	14	65260293	65260293	+	Silent	SNP	G	G	A			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr14:65260293G>A	ENST00000389722.3	-	13	2141	c.2088C>T	c.(2086-2088)atC>atT	p.I696I	SPTB_ENST00000556626.1_Silent_p.I696I|SPTB_ENST00000389721.5_Silent_p.I696I|SPTB_ENST00000542895.1_Silent_p.I696I|SPTB_ENST00000389720.3_Silent_p.I696I	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	696					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CCTCCTGGAAGATCTGCTCCA	0.587000													15	13					0	0	0.000422831	0	0
RGR	5995	broad.mit.edu	37	10	86018377	86018377	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr10:86018377G>T	ENST00000359452.4	+	7	908	c.870G>T	c.(868-870)gaG>gaT	p.E290D	RGR_ENST00000358110.5_Missense_Mutation_p.E248D|RGR_ENST00000479725.1_3'UTR	NM_001012720.1|NM_002921.3	NP_001012738.1|NP_002912.2	P47804	RGR_HUMAN	retinal G protein coupled receptor	286					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity|protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	17						AGAAGAGGGAGAAGGACCGAA	0.602000													15	6					6.31663e-08	1.27365e-06	0.000308642	1	0
IRAK1	3654	broad.mit.edu	37	X	153284759	153284759	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chrX:153284759G>A	ENST00000369980.3	-	3	492	c.325C>T	c.(325-327)Ccg>Tcg	p.P109S	IRAK1_ENST00000369974.2_Missense_Mutation_p.P109S|IRAK1_ENST00000393682.1_Missense_Mutation_p.P135S|IRAK1_ENST00000393687.2_Missense_Mutation_p.P109S|IRAK1_ENST00000429936.2_Missense_Mutation_p.P135S	NM_001025242.1|NM_001569.3	NP_001020413.1|NP_001560.2	P51617	IRAK1_HUMAN	interleukin-1 receptor-associated kinase 1	109					activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|lipopolysaccharide-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|protein autophosphorylation|protein oligomerization|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transmembrane receptor protein serine/threonine kinase signaling pathway	cytosol|endosome membrane|interleukin-1 receptor complex	ATP binding|NF-kappaB-inducing kinase activity|protein binding|protein heterodimerization activity|protein homodimerization activity|ubiquitin-protein ligase activity			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2)	25	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCTGGGGACGGAAGCGGGGCG	0.741000													7	15					0	0	0.000442599	0	0
ARL5A	26225	broad.mit.edu	37	2	152670746	152670746	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr2:152670746C>G	ENST00000295087.8	-	3	503	c.192G>C	c.(190-192)atG>atC	p.M64I	ARL5A_ENST00000428992.2_Missense_Mutation_p.M27I	NM_001037174.1|NM_012097.3	NP_001032251.1|NP_036229.1	Q9Y689	ARL5A_HUMAN	ADP-ribosylation factor-like 5A	64					small GTPase mediated signal transduction	intracellular	GTP binding			breast(1)|large_intestine(2)|liver(1)|lung(2)	6				BRCA - Breast invasive adenocarcinoma(221;0.153)		CAATATCCCACATTAGGAAAC	0.328000													9	148					0	0	0.000274275	0	0
TENM4	26011	broad.mit.edu	37	11	78380792	78380792	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr11:78380792C>T	ENST00000278550.7	-	32	7060	c.6598G>A	c.(6598-6600)Ggc>Agc	p.G2200S		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		TGCAGCTGGCCGTCAGCATCA	0.542000													21	37					0	0	0.00121646	0	0
TP63	8626	broad.mit.edu	37	3	189526072	189526072	+	Silent	SNP	G	G	A			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr3:189526072G>A	ENST00000264731.3	+	4	425	c.336G>A	c.(334-336)acG>acA	p.T112T	TP63_ENST00000392460.3_Silent_p.T112T|TP63_ENST00000418709.2_Silent_p.T112T|TP63_ENST00000449992.1_Intron|TP63_ENST00000440651.2_Silent_p.T112T|TP63_ENST00000456148.1_Silent_p.T18T|TP63_ENST00000437221.1_Silent_p.T18T|TP63_ENST00000392463.2_Silent_p.T18T|TP63_ENST00000382063.4_Intron|TP63_ENST00000354600.5_Silent_p.T18T|TP63_ENST00000392461.3_Silent_p.T18T|TP63_ENST00000320472.5_Silent_p.T112T	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	112					anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CACAGTACACGAACCTGGGGC	0.547000										HNSCC(45;0.13)			22	14					0	0	0.000720815	0	0
FGF23	8074	broad.mit.edu	37	12	4488628	4488628	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr12:4488628G>A	ENST00000237837.1	-	1	266	c.121C>T	c.(121-123)Cac>Tac	p.H41Y		NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23	41					cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			GTGTACAGGTGGATCAGGCCA	0.602000													22	42					0	0	0.000720815	0	0
FLCN	201163	broad.mit.edu	37	17	17122455	17122455	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr17:17122455G>A	ENST00000285071.4	-	9	1394	c.940C>T	c.(940-942)Cca>Tca	p.P314S	RP11-45M22.4_ENST00000427497.3_Intron	NM_144997.5	NP_659434.2	Q8NFG4	FLCN_HUMAN	folliculin	314					regulation of protein phosphorylation	cytoplasm|nucleus|plasma membrane	protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						GTACTCTCTGGCAACACAGGG	0.562000									Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome				71	58					0	0	0.000781405	0	0
SPAM1	6677	broad.mit.edu	37	7	123594215	123594215	+	Silent	SNP	G	G	A			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr7:123594215G>A	ENST00000340011.5	+	3	948	c.591G>A	c.(589-591)aaG>aaA	p.K197K	SPAM1_ENST00000402183.2_Silent_p.K197K|SPAM1_ENST00000223028.7_Silent_p.K197K|SPAM1_ENST00000460182.1_Silent_p.K197K|SPAM1_ENST00000439500.1_Silent_p.K197K	NM_003117.4	NP_003108.2	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	197					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	AGGCAGGGAAGGATTTCCTGG	0.373000													26	73					0	0	0.00106085	0	0
EPB41L4B	54566	broad.mit.edu	37	9	111976086	111976086	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr9:111976086C>T	ENST00000374566.3	-	17	2163	c.1646G>A	c.(1645-1647)gGa>gAa	p.G549E		NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	549						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGCAGGTGTTCCTGGACTCAG	0.502000													45	10					0	0	0.000781405	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				45	48					0	0	0.000781405	0	0
RFX6	222546	broad.mit.edu	37	6	117198636	117198636	+	Silent	SNP	G	G	A			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr6:117198636G>A	ENST00000332958.2	+	1	214	c.198G>A	c.(196-198)ccG>ccA	p.P66P		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	66					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						GCGAAGACCCGGAGCTGCCGG	0.617000													4	5					0	0	0.00024832	0	0
ARAP1	116985	broad.mit.edu	37	11	72412700	72412700	+	Silent	SNP	G	G	T	rs145351119	byFrequency	TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr11:72412700G>T	ENST00000359373.5	-	16	3147	c.2296C>A	c.(2296-2298)Cgg>Agg	p.R766R	ARAP1_ENST00000393609.3_Silent_p.R766R|ARAP1-AS2_ENST00000500163.2_RNA|ARAP1_ENST00000393605.3_Silent_p.R526R|ARAP1_ENST00000426523.1_Silent_p.R521R|ARAP1_ENST00000455638.2_Silent_p.R766R|ARAP1_ENST00000429686.1_Silent_p.R460R|ARAP1_ENST00000334211.8_Silent_p.R521R			Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	766	PH 3.				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						CCACCTTCCCGGGCCCGGCGG	0.637000													8	266					0.000274275	0.00532163	0.000274275	1	0
TNPO3	23534	broad.mit.edu	37	7	128615931	128615931	+	Missense_Mutation	SNP	A	A	C			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr7:128615931A>C	ENST00000393245.1	-	17	2595	c.2222T>G	c.(2221-2223)cTt>cGt	p.L741R	TNPO3_ENST00000471166.1_Missense_Mutation_p.L741R|TNPO3_ENST00000265388.5_Missense_Mutation_p.L707R|TNPO3_ENST00000482320.1_Missense_Mutation_p.L641R|TNPO3_ENST00000471234.1_Missense_Mutation_p.L643R	NM_012470.3	NP_036602.1	Q9Y5L0	TNPO3_HUMAN	transportin 3	707					splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						TTCATCCACAAGGATACTGCC	0.478000													22	26					0	0	0.00188189	0	0
CD163	9332	broad.mit.edu	37	12	7639175	7639175	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr12:7639175G>A	ENST00000359156.4	-	10	2580	c.2378C>T	c.(2377-2379)tCc>tTc	p.S793F	CD163_ENST00000541972.1_Missense_Mutation_p.S781F|CD163_ENST00000432237.2_Missense_Mutation_p.S793F|CD163_ENST00000396620.3_Missense_Mutation_p.S826F	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	793	SRCR 7.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						CCAAATGCGGGATTCTTTTCC	0.512000													78	102					0	0	0.000781405	0	0
GRIA4	2893	broad.mit.edu	37	11	105774667	105774667	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr11:105774667C>T	ENST00000393127.2	+	8	1459	c.1013C>T	c.(1012-1014)cCa>cTa	p.P338L	GRIA4_ENST00000530497.1_Missense_Mutation_p.P338L|GRIA4_ENST00000428631.2_Missense_Mutation_p.P338L|GRIA4_ENST00000525187.1_Missense_Mutation_p.P338L|GRIA4_ENST00000282499.5_Missense_Mutation_p.P338L|GRIA4_ENST00000393125.2_Missense_Mutation_p.P338L	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	338					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	CCTGCTGCTCCATGGGGCCAG	0.423000													43	74					0	0	0.00285205	0	0
NPAS3	64067	broad.mit.edu	37	14	34269592	34269592	+	Silent	SNP	C	C	T			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr14:34269592C>T	ENST00000346562.2	+	11	2057	c.1983C>T	c.(1981-1983)tcC>tcT	p.S661S	NPAS3_ENST00000551492.1_Silent_p.S698S|NPAS3_ENST00000548645.1_Silent_p.S663S|NPAS3_ENST00000357798.5_Silent_p.S680S|NPAS3_ENST00000356141.4_Silent_p.S693S	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	693					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		ACTTCCCGTCCCCGCAGGGCG	0.726000													22	26					0	0	0.00229938	0	0
WDR90	197335	broad.mit.edu	37	16	705369	705369	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr16:705369C>T	ENST00000549091.1	+	15	1711	c.1619C>T	c.(1618-1620)tCc>tTc	p.S540F	LA16c-349E10.1_ENST00000573609.1_RNA|WDR90_ENST00000293879.4_Missense_Mutation_p.S540F	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN	WD repeat domain 90	540										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				GTGCTGCGTTCCTGCCCCGTG	0.701000													14	15					0	0	0.000308642	0	0
EVA1C	59271	broad.mit.edu	37	21	33887456	33887456	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr21:33887456G>T	ENST00000300255.2	+	8	1755	c.1282G>T	c.(1282-1284)Ggt>Tgt	p.G428C	EVA1C_ENST00000382699.3_Missense_Mutation_p.G425C|EVA1C_ENST00000485488.1_3'UTR|EVA1C_ENST00000401402.3_Missense_Mutation_p.G380C	NM_058187.3	NP_478067.2			eva-1 homolog C (C. elegans)																		GATGAACAGTGGTTTGGACAC	0.458000													7	123					7.48243e-07	1.48924e-05	0.000442599	1	0
COL19A1	1310	broad.mit.edu	37	6	70894614	70894614	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr6:70894614G>A	ENST00000322773.4	+	45	2897	c.2795G>A	c.(2794-2796)gGa>gAa	p.G932E	COL19A1_ENST00000393344.1_Missense_Mutation_p.G554E	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	932	Triple-helical region 5 (COL5).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						GGAAAAGATGGAATACCAGGT	0.313000													35	58					0	0	0.000692331	0	0
HJURP	55355	broad.mit.edu	37	2	234749971	234749971	+	Silent	SNP	C	C	T			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr2:234749971C>T	ENST00000411486.2	-	8	1520	c.1455G>A	c.(1453-1455)ctG>ctA	p.L485L	HJURP_ENST00000432087.1_Silent_p.L431L|HJURP_ENST00000441687.1_Silent_p.L400L	NM_018410.3	NP_060880.3	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	485					cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly	condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm	DNA binding|histone binding			NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		AAGGTAAACTCAGCCTGCGGG	0.547000													26	41					0	0	0.000878237	0	0
PCNXL2	80003	broad.mit.edu	37	1	233136157	233136157	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr1:233136157G>A	ENST00000258229.8	-	30	5456	c.5222C>T	c.(5221-5223)tCc>tTc	p.S1741F	PCNXL2_ENST00000344698.2_Missense_Mutation_p.S393F	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1741						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				TTCCTTGTTGGACAGCACTGC	0.607000													50	22					0	0	0.000781405	0	0
TBC1D32	221322	broad.mit.edu	37	6	121625979	121625979	+	Splice_Site	SNP	C	C	T			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr6:121625979C>T	ENST00000275159.6	-	6	690	c.690_splice	c.e6-1	p.D231_splice	TBC1D32_ENST00000398212.2_Splice_Site_p.D231_splice					TBC1 domain family, member 32																		AAAATCCGGTCCTACGGAAAT	0.299000													33	64					0	0	0.000692331	0	0
NACC1	112939	broad.mit.edu	37	19	13247126	13247126	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr19:13247126C>T	ENST00000292431.4	+	3	1153	c.1027C>T	c.(1027-1029)Ctc>Ttc	p.L343F		NM_052876.3	NP_443108.1	Q96RE7	NACC1_HUMAN	nucleus accumbens associated 1, BEN and BTB (POZ) domain containing	343					negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization|transcription, DNA-dependent	cytoplasm|nuclear body				endometrium(3)|large_intestine(2)|lung(3)|skin(1)	9						CCTGGCGTCTCTCCCGGCTGA	0.647000													17	45					0	0	0.000958276	0	0
ADCY8	114	broad.mit.edu	37	8	131859680	131859680	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr8:131859680G>A	ENST00000286355.5	-	11	4584	c.2492C>T	c.(2491-2493)tCc>tTc	p.S831F	ADCY8_ENST00000377928.3_Intron	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	831					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CTCTGGGTAGGAGCAGATATC	0.413000										HNSCC(32;0.087)			26	50					0	0	0.00106085	0	0
SEMA3E	9723	broad.mit.edu	37	7	83032082	83032082	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr7:83032082G>A	ENST00000307792.3	-	10	1476	c.1009C>T	c.(1009-1011)Cga>Tga	p.R337*	SEMA3E_ENST00000427262.1_Nonsense_Mutation_p.R277*	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	337	Sema.				axon guidance	extracellular space|membrane	receptor activity	p.R337*(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				GCATGCCCTCGAAAAATATTA	0.403000													24	27					0	0	0.00278032	0	0
RAB1A	5861	broad.mit.edu	37	2	65315800	65315800	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr2:65315800G>A	ENST00000409784.3	-	6	635	c.445C>T	c.(445-447)Ccg>Tcg	p.P149S	RAB1A_ENST00000356214.7_Missense_Mutation_p.P117S|RAB1A_ENST00000494188.1_Intron|RAB1A_ENST00000398529.3_Missense_Mutation_p.P73S|RAB1A_ENST00000260638.8_Missense_Mutation_p.P73S|RAB1A_ENST00000409751.1_Missense_Mutation_p.P117S|RAB1A_ENST00000409892.1_Missense_Mutation_p.P85S	NM_004161.4	NP_004152.1	P62820	RAB1A_HUMAN	RAB1A, member RAS oncogene family	149					protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	endoplasmic reticulum|Golgi apparatus	GTP binding|GTPase activity			endometrium(1)|kidney(1)|lung(3)|prostate(1)	6						TCCAAAAACGGAATTCCAAGG	0.393000													5	10					0	0	0.000602214	0	0
PROL1	58503	broad.mit.edu	37	4	71275483	71275483	+	Silent	SNP	C	C	T			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr4:71275483C>T	ENST00000399575.2	+	3	612	c.438C>T	c.(436-438)atC>atT	p.I146I	PROL1_ENST00000514338.1_3'UTR	NM_021225.4	NP_067048.4	Q99935	PROL1_HUMAN	proline rich, lacrimal 1	146					regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				AAATAAACATCACCACCGCAG	0.448000													17	42					0	0	0.000566183	0	0
USP44	84101	broad.mit.edu	37	12	95914926	95914926	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr12:95914926C>T	ENST00000258499.3	-	5	2074	c.1786G>A	c.(1786-1788)Gaa>Aaa	p.E596K	USP44_ENST00000552440.1_Intron|USP44_ENST00000393091.2_Missense_Mutation_p.E596K|USP44_ENST00000537435.2_Missense_Mutation_p.E596K	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	Q9H0E7	UBP44_HUMAN	ubiquitin specific peptidase 44	596					anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						TTTAAGATTTCCTCAAAGCCA	0.443000													54	65					0	0	0.000781405	0	0
HRG	3273	broad.mit.edu	37	3	186390628	186390628	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr3:186390628C>T	ENST00000232003.4	+	5	691	c.611C>T	c.(610-612)cCc>cTc	p.P204L		NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	histidine-rich glycoprotein	204	Cystatin 2.		P -> S (in dbSNP:rs9898).		fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		CGGAACTGCCCCAGACACCAT	0.443000													30	20					0	0	0.00283554	0	0
CDH20	28316	broad.mit.edu	37	18	59212366	59212366	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr18:59212366G>A	ENST00000262717.4	+	10	2035	c.1637G>A	c.(1636-1638)aGg>aAg	p.R546K	CDH20_ENST00000538374.1_Missense_Mutation_p.R546K|CDH20_ENST00000536675.2_Missense_Mutation_p.R546K			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	546	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				TTTACCATAAGGGACAACCAA	0.488000													32	73					0	0	0.00148497	0	0
ATRN	8455	broad.mit.edu	37	20	3578567	3578567	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr20:3578567G>A	ENST00000262919.5	+	22	3552	c.3484G>A	c.(3484-3486)Gac>Aac	p.D1162N	ATRN_ENST00000446916.2_Missense_Mutation_p.D1162N	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	1162					inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						TCTTCTTATTGACTATCAGTT	0.333000													74	111					0	0	0.000781405	0	0
WNT1	7471	broad.mit.edu	37	12	49375301	49375301	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr12:49375301G>A	ENST00000293549.3	+	4	1027	c.991G>A	c.(991-993)Ggc>Agc	p.G331S		NM_005430.3	NP_005421.1	P04628	WNT1_HUMAN	wingless-type MMTV integration site family, member 1	331					brain segmentation|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|central nervous system morphogenesis|cerebellum formation|dermatome development|diencephalon development|embryonic axis specification|forebrain anterior/posterior pattern formation|fourth ventricle development|hemopoietic stem cell proliferation|hepatocyte differentiation|inner ear morphogenesis|mesoderm morphogenesis|midbrain development|midbrain-hindbrain boundary maturation during brain development|negative regulation of cell-cell adhesion|negative regulation of cell-substrate adhesion|negative regulation of DNA damage checkpoint|negative regulation of fat cell differentiation|neuron fate determination|positive regulation of fibroblast proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of lamellipodium assembly|positive regulation of Notch signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to wounding|signal transduction in response to DNA damage|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway, calcium modulating pathway	early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled-2 binding|transcription regulatory region DNA binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(357;0.244)		GCTCTGCTGCGGCAGGGGCCA	0.711000													2	0					0	0	6.4e-05	0	0
ACE	1636	broad.mit.edu	37	17	61568584	61568584	+	Silent	SNP	G	G	A	rs145809210	byFrequency	TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr17:61568584G>A	ENST00000577647.1	+	8	1077	c.1032G>A	c.(1030-1032)agG>agA	p.R344R	ACE_ENST00000413513.3_Silent_p.R344R|ACE_ENST00000290863.6_Silent_p.R344R|ACE_ENST00000290866.4_Silent_p.R918R|ACE_ENST00000421982.2_Silent_p.R164R|ACE_ENST00000490216.2_Silent_p.R344R|ACE_ENST00000428043.1_Silent_p.R918R			P12821	ACE_HUMAN	angiotensin I converting enzyme	918	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	GGACGCCCAGGAGGATGTTTA	0.617000													7	8					0	0	0.000157383	0	0
C2CD3	26005	broad.mit.edu	37	11	73748584	73748584	+	Silent	SNP	C	C	A			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr11:73748584C>A	ENST00000334126.7	-	30	6046	c.5820G>T	c.(5818-5820)ggG>ggT	p.G1940G	C2CD3_ENST00000313663.7_Silent_p.G1940G			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1940						centrosome		p.G1940G(2)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					TACACTGGCTCCCAGGGTCTA	0.527000													66	103					7.75977e-34	1.60664e-32	0.000781405	1	0
STAT4	6775	broad.mit.edu	37	2	191894583	191894583	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr2:191894583G>A	ENST00000392320.2	-	24	2544	c.2230C>T	c.(2230-2232)Cct>Tct	p.P744S	AC067945.4_ENST00000456176.1_RNA|STAT4_ENST00000358470.4_Missense_Mutation_p.P744S	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	744					JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			GCAGAATAAGGAGACTTCATC	0.323000													52	127					0	0	0.000781405	0	0
OSTCP1	202459	broad.mit.edu	37	6	159262893	159262893	+	RNA	SNP	G	G	A			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr6:159262893G>A	ENST00000522287.1	-	0	450					NR_028496.1																						CATCGGTCCAGGAATATGAAA	0.393000													34	64					0	0	0.000692331	0	0
DENND5B	160518	broad.mit.edu	37	12	31577540	31577540	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr12:31577540C>T	ENST00000389082.5	-	10	2584	c.2320G>A	c.(2320-2322)Gag>Aag	p.E774K	DENND5B_ENST00000536562.1_Missense_Mutation_p.E809K|DENND5B_ENST00000306833.6_Missense_Mutation_p.E809K	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	774	RUN 1.					integral to membrane				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						AAGGTGTTCTCCTCCAGGCCG	0.517000													61	88					0	0	0.000781405	0	0
MYOF	26509	broad.mit.edu	37	10	95161230	95161230	+	Silent	SNP	G	G	A			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr10:95161230G>A	ENST00000371501.4	-	12	1184	c.1062C>T	c.(1060-1062)gcC>gcT	p.A354A	MYOF_ENST00000359263.4_Silent_p.A354A|MYOF_ENST00000358334.5_Silent_p.A354A|MYOF_ENST00000371502.4_Silent_p.A354A|MYOF_ENST00000371489.1_Silent_p.A354A			Q9NZM1	MYOF_HUMAN	myoferlin	354	C2 3.				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CCCACCGGAGGGCAATGCCAG	0.448000													30	14					0	0	0.001512	0	0
P4HA3	283208	broad.mit.edu	37	11	74015355	74015355	+	Silent	SNP	C	C	T			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr11:74015355C>T	ENST00000331597.4	-	2	348	c.303G>A	c.(301-303)agG>agA	p.R101R	P4HA3_ENST00000427714.2_Silent_p.R101R	NM_182904.3	NP_878907.1	Q7Z4N8	P4HA3_HUMAN	prolyl 4-hydroxylase, alpha polypeptide III	101						endoplasmic reticulum lumen	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 4-dioxygenase activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1)	15	Breast(11;2.31e-05)					GTACCACATTCCTCCAGTCAG	0.493000													110	164					0	0	0.000781405	0	0
TENM4	26011	broad.mit.edu	37	11	78372617	78372617	+	Silent	SNP	G	G	A			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr11:78372617G>A	ENST00000278550.7	-	33	7890	c.7428C>T	c.(7426-7428)ctC>ctT	p.L2476L		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		ATCCAAAGGTGAGCAGCCAGC	0.507000													10	16					0	0	0.00185496	0	0
PDE4A	5141	broad.mit.edu	37	19	10574558	10574558	+	Silent	SNP	C	C	T			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr19:10574558C>T	ENST00000380702.2	+	15	1767	c.1767C>T	c.(1765-1767)gcC>gcT	p.A589A	PDE4A_ENST00000440014.2_Silent_p.A550A|PDE4A_ENST00000293683.5_Silent_p.A585A|PDE4A_ENST00000592685.1_Silent_p.A589A|PDE4A_ENST00000344979.3_Silent_p.A372A|PDE4A_ENST00000352831.6_Silent_p.A611A			P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	611	Catalytic.				signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)	GCATCATGGCCGAGTTCTTCC	0.617000													20	31					0	0	0.00152264	0	0
ZNF280C	55609	broad.mit.edu	37	X	129370208	129370208	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chrX:129370208G>A	ENST00000370978.4	-	8	904	c.751C>T	c.(751-753)Cct>Tct	p.P251S		NM_017666.4	NP_060136.1	Q8ND82	Z280C_HUMAN	zinc finger protein 280C	251					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						TATTTCAAAGGATCCAAAAGA	0.299000													30	101					0	0	0.00058488	0	0
OR51V1	283111	broad.mit.edu	37	11	5221880	5221880	+	Silent	SNP	C	C	T			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr11:5221880C>T	ENST00000321255.1	-	1	50	c.51G>A	c.(49-51)acG>acA	p.T17T		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	17					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T17T(1)		endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGAAGAATTCGTGCTGGTGC	0.428000													17	63					0	0	0.000422831	0	0
ZNF681	148213	broad.mit.edu	37	19	23927190	23927190	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr19:23927190G>A	ENST00000402377.3	-	4	1303	c.1162C>T	c.(1162-1164)Cat>Tat	p.H388Y	ZNF681_ENST00000395385.3_Missense_Mutation_p.H319Y	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	388					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				TCTCCAGTATGAATTATCTTA	0.398000													15	27					0	0	0.000308642	0	0
SLC22A10	387775	broad.mit.edu	37	11	63072194	63072194	+	Silent	SNP	G	G	A			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr11:63072194G>A	ENST00000332793.6	+	9	1433	c.1431G>A	c.(1429-1431)agG>agA	p.R477R	SLC22A10_ENST00000526800.1_Intron|SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000544661.1_3'UTR	NM_001039752.3	NP_001034841.3	Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	477						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CGGCTAGTAGGATTGGAGCAG	0.383000													41	67					0	0	0.000781405	0	0
ALPK2	115701	broad.mit.edu	37	18	56204264	56204264	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr18:56204264G>A	ENST00000361673.3	-	5	3368	c.3155C>T	c.(3154-3156)cCt>cTt	p.P1052L	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1052							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CACTTGGGAAGGAAATTGGGA	0.493000													27	55					0	0	0.00106085	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14414855	14414855	+	RNA	SNP	A	A	G	rs141732548	by1000genomes	TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr21:14414855A>G	ENST00000507941.1	+	0	95																											GCCAATGGCCATGCAGAAGTA	0.448000													4	51					0	0	0.00116845	0	0
UMOD	7369	broad.mit.edu	37	16	20360463	20360463	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr16:20360463C>T	ENST00000396134.2	-	4	382	c.259G>A	c.(259-261)Gag>Aag	p.E87K	UMOD_ENST00000570689.1_Missense_Mutation_p.E54K|UMOD_ENST00000424589.1_Missense_Mutation_p.E87K|UMOD_ENST00000396138.4_Missense_Mutation_p.E103K|UMOD_ENST00000302509.4_Missense_Mutation_p.E54K|UMOD_ENST00000396142.2_Missense_Mutation_p.E54K	NM_001278614.1	NP_001265543.1	P07911	UROM_HUMAN	uromodulin	54	EGF-like 2; calcium-binding (Potential).				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GTGAAGCCCTCCTGACAGGTG	0.602000													10	8					0	0	0.000978159	0	0
PDE4A	5141	broad.mit.edu	37	19	10574557	10574557	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr19:10574557C>T	ENST00000380702.2	+	15	1766	c.1766C>T	c.(1765-1767)gCc>gTc	p.A589V	PDE4A_ENST00000440014.2_Missense_Mutation_p.A550V|PDE4A_ENST00000293683.5_Missense_Mutation_p.A585V|PDE4A_ENST00000592685.1_Missense_Mutation_p.A589V|PDE4A_ENST00000344979.3_Missense_Mutation_p.A372V|PDE4A_ENST00000352831.6_Missense_Mutation_p.A611V			P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	611	Catalytic.				signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)	CGCATCATGGCCGAGTTCTTC	0.612000													20	32					0	0	0.00188189	0	0
DNAH5	1767	broad.mit.edu	37	5	13716799	13716799	+	Splice_Site	SNP	C	C	T			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr5:13716799C>T	ENST00000265104.4	-	74	12810	c.12705_splice	c.e74-1	p.G4236_splice		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4236					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CAGGAGACACCCTGGGAAATT	0.398000									Kartagener syndrome				22	17					0	0	0.000586117	0	0
ZNF557	79230	broad.mit.edu	37	19	7083402	7083402	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr19:7083402C>T	ENST00000414706.1	+	8	1413	c.940C>T	c.(940-942)Cat>Tat	p.H314Y	ZNF557_ENST00000252840.6_Missense_Mutation_p.H314Y|ZNF557_ENST00000439035.2_Missense_Mutation_p.H307Y	NM_001044387.1|NM_001044388.1|NM_024341.2	NP_001037852.1|NP_001037853.1|NP_077317.2	Q8N988	ZN557_HUMAN	zinc finger protein 557	307					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17				Lung(535;0.179)		CTATAGCATTCATACAGGGGA	0.473000													47	90					0	0	0.000781405	0	0
ZSCAN30	100101467	broad.mit.edu	37	18	32834207	32834207	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr18:32834207C>T	ENST00000420878.3	-	5	1147	c.692G>A	c.(691-693)gGt>gAt	p.G231D	ZNF397_ENST00000592264.1_Intron|ZNF397_ENST00000589420.1_3'UTR|ZSCAN30_ENST00000333206.5_Missense_Mutation_p.G231D|ZNF397_ENST00000261333.6_Missense_Mutation_p.P220S|ZNF397_ENST00000355632.4_Missense_Mutation_p.P190S	NM_001166012.1	NP_001159484.1	Q86W11	ZSC30_HUMAN	zinc finger and SCAN domain containing 30	231					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(5)|lung(3)|urinary_tract(1)	9						GTTGTCCAGACCTCCCAAAGC	0.463000													47	86					0	0	0.000781405	0	0
SLC22A7	10864	broad.mit.edu	37	6	43270055	43270055	+	Silent	SNP	C	C	T			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr6:43270055C>T	ENST00000372585.5	+	8	1274	c.1179C>T	c.(1177-1179)gtC>gtT	p.V393V	SLC22A7_ENST00000372589.3_Silent_p.V391V|SLC22A7_ENST00000372574.3_Silent_p.V391V	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	393						basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			AGCTGCTGGTCTACTTGTCGG	0.632000													8	10					0	0	0.000274275	0	0
DNASE2B	58511	broad.mit.edu	37	1	84864322	84864322	+	Frame_Shift_Del	DEL	G	G	-			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr1:84864322delG	ENST00000370665.3	+	1	108	c.75delG	c.(73-75)ctfs	p.L25fs		NM_021233.2	NP_067056.2	Q8WZ79	DNS2B_HUMAN	deoxyribonuclease II beta	25					DNA metabolic process	lysosome	deoxyribonuclease II activity			endometrium(1)|lung(4)|skin(1)	6				all cancers(265;0.00303)|Epithelial(280;0.0112)|OV - Ovarian serous cystadenocarcinoma(397;0.0808)		TTGGGGTGCTGGGGGCAGCAA	0.463													7	3535	---	---	---	---					
WDR63	126820	broad.mit.edu	37	1	85547084	85547084	+	Frame_Shift_Del	DEL	A	A	-			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr1:85547084delA	ENST00000294664.6	+	4	451	c.271delA	c.(271-273)aafs	p.K92fs	WDR63_ENST00000370596.1_Frame_Shift_Del_p.K92fs|WDR63_ENST00000326813.8_Frame_Shift_Del_p.K92fs	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	92										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		CCACCCAGTCAAAAAAATTGT	0.383													8	1386	---	---	---	---					
VPS8	23355	broad.mit.edu	37	3	184573590	184573593	+	Frame_Shift_Del	DEL	TTGT	TTGT	-			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr3:184573590_184573593delTTGT	ENST00000287546.4	+	13	1298_1301	c.1127_1130delTTGT	c.(1126-1131)gtfs	p.VV376fs	VPS8_ENST00000446204.2_Frame_Shift_Del_p.VV374fs|VPS8_ENST00000437079.3_Frame_Shift_Del_p.VV376fs|VPS8_ENST00000436792.2_Frame_Shift_Del_p.VV374fs	NM_015303.3	NP_056118.2	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	376							zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			AGAGGAGATGTTGTTCATTTTCTA	0.387													60	65	---	---	---	---					
INTS4P2	644619	broad.mit.edu	37	7	65150824	65150825	+	RNA	INS	-	-	G			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr7:65150824_65150825insG	ENST00000430126.2	+	0	757																											TCACCCCCCCCCCCGTTAAAAT	0.470													3	6	---	---	---	---					
NOX4	50507	broad.mit.edu	37	11	89106662	89106663	+	Splice_Site	INS	-	-	A	rs56022003		TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr11:89106662_89106663insA	ENST00000535633.1	-	12	1313		c.e12-2		NOX4_ENST00000525196.1_Intron|NOX4_ENST00000531342.1_Splice_Site|NOX4_ENST00000413594.2_Splice_Site|NOX4_ENST00000542487.1_Splice_Site|NOX4_ENST00000527626.1_Splice_Site|NOX4_ENST00000527956.1_Splice_Site|NOX4_ENST00000534731.1_Splice_Site|NOX4_ENST00000343727.5_Splice_Site|NOX4_ENST00000263317.4_Splice_Site|NOX4_ENST00000532825.1_Splice_Site|NOX4_ENST00000424319.1_Splice_Site|NOX4_ENST00000528341.1_Splice_Site|NOX4_ENST00000375979.3_Splice_Site	NM_001143836.1|NM_016931.3	NP_001137308.1|NP_058627.1	Q9NPH5	NOX4_HUMAN	NADPH oxidase 4						cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity	p.?(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				AGTTGGACACTAAAAAAAAATA	0.292													8	200	---	---	---	---					
SNHG14	104472715	broad.mit.edu	37	15	25227366	25227367	+	RNA	INS	-	-	T			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr15:25227366_25227367insT	ENST00000551631.2	+	0	669_670				SNHG14_ENST00000551361.1_RNA	NR_001293.1																						TTCTGAGTTCCTTTTTTTTTCT	0.356													2	4	---	---	---	---					
ZNF668	79759	broad.mit.edu	37	16	31073072	31073072	+	Frame_Shift_Del	DEL	G	G	-			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr16:31073072delG	ENST00000538906.1	-	3	1961	c.1177delC	c.(1177-1179)acfs	p.H393fs	ZNF668_ENST00000300849.4_Frame_Shift_Del_p.H393fs|ZNF668_ENST00000394983.2_Frame_Shift_Del_p.H393fs|ZNF668_ENST00000426488.2_Frame_Shift_Del_p.H416fs|ZNF668_ENST00000535577.1_Frame_Shift_Del_p.H393fs|ZNF668_ENST00000539836.3_Frame_Shift_Del_p.H416fs|ZNF668_ENST00000417110.2_Frame_Shift_Del_p.W87fs	NM_001172668.1	NP_001166139.1	Q96K58	ZN668_HUMAN	zinc finger protein 668	393					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						GCGTTACAGTGGAAGGGGCGC	0.667													61	136	---	---	---	---					
MYPOP	339344	broad.mit.edu	37	19	46404647	46404647	+	Frame_Shift_Del	DEL	C	C	-			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr19:46404647delC	ENST00000322217.5	-	2	471	c.385delG	c.(385-387)cafs	p.A129fs		NM_001012643.2	NP_001012661.1	Q86VE0	MYPOP_HUMAN	Myb-related transcription factor, partner of profilin	129						nucleus	DNA binding			large_intestine(2)|lung(1)|skin(1)	4						CCAGCACCTGCCCCCGGCGCC	0.736													2	4	---	---	---	---					
TNRC6B	23112	broad.mit.edu	37	22	40674020	40674020	+	Frame_Shift_Del	DEL	T	T	-			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr22:40674020delT	ENST00000454349.2	+	9	3445	c.3234delT	c.(3232-3234)aafs	p.N1078fs	TNRC6B_ENST00000402203.1_Frame_Shift_Del_p.N331fs|TNRC6B_ENST00000335727.8_Frame_Shift_Del_p.N1025fs|TNRC6B_ENST00000497559.1_3'UTR|TNRC6B_ENST00000301923.9_Frame_Shift_Del_p.N331fs	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	1078					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding			breast(1)	1						CTGAAGATAATCCAAGCAGCA	0.408													2	4	---	---	---	---					
