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
DAGLA	747	broad.mit.edu	37	11	61511136	61511136	+	Silent	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr11:61511136G>A	ENST00000257215.5	+	20	2420	c.2304G>A	c.(2302-2304)gcG>gcA	p.A768A		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	768					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		GGCTGGCGGCGGAGCTGCAGG	0.716000													82	67					0	0	1	0	0
CATSPERB	79820	broad.mit.edu	37	14	92102822	92102822	+	Silent	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr14:92102822C>T	ENST00000256343.3	-	17	1845	c.1689G>A	c.(1687-1689)acG>acA	p.T563T		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	563					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				TGCTGTAGATCGTTTCCTGGG	0.413000													20	78					0	0	1	0	0
SLC26A8	116369	broad.mit.edu	37	6	35987363	35987363	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr6:35987363C>T	ENST00000490799.1	-	2	475	c.122G>A	c.(121-123)aGg>aAg	p.R41K	SLC26A8_ENST00000355574.2_Missense_Mutation_p.R41K|SLC26A8_ENST00000394602.2_Missense_Mutation_p.R41K	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN	solute carrier family 26 (anion exchanger), member 8	41					cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						GGAGGCCTTCCTTTTGTGTTC	0.502000													6	31					0	0	1	0	0
LCE3B	353143	broad.mit.edu	37	1	152586426	152586426	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:152586426C>T	ENST00000335633.1	+	1	140	c.140C>T	c.(139-141)cCc>cTc	p.P47L		NM_178433.1	NP_848520.1	Q5TA77	LCE3B_HUMAN	late cornified envelope 3B	47	Cys-rich.				keratinization					large_intestine(1)|lung(2)|prostate(1)	4	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0313)|Kidney(5;0.0367)		TGTGGTGGCCCCAGCTCTGAG	0.662000													36	28					0	0	1	0	0
TTC21B	79809	broad.mit.edu	37	2	166773864	166773864	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr2:166773864G>A	ENST00000243344.7	-	14	1939	c.1802C>T	c.(1801-1803)tCc>tTc	p.S601F		NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	601						cilium axoneme|cytoplasm|cytoskeleton	binding			breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						TGATTTTGTGGAAGCTCCAAT	0.368000													10	39					0	0	1	0	0
LRRC6	23639	broad.mit.edu	37	8	133627307	133627307	+	Silent	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr8:133627307G>A	ENST00000519595.1	-	8	1049	c.951C>T	c.(949-951)atC>atT	p.I317I	LRRC6_ENST00000518642.1_Silent_p.I317I|LRRC6_ENST00000250173.1_Silent_p.I317I			Q86X45	LRRC6_HUMAN	leucine rich repeat containing 6	317	CS.					cytoplasm				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			GGTCCAGGATGATCTGCTTTT	0.318000													7	22					0	0	1	0	0
RCC1	1104	broad.mit.edu	37	1	28861871	28861871	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:28861871C>G	ENST00000373833.6	+	9	925	c.640C>G	c.(640-642)Cgt>Ggt	p.R214G	RCC1_ENST00000429051.1_3'UTR|RCC1_ENST00000398958.2_Missense_Mutation_p.R214G|RCC1_ENST00000373832.1_Missense_Mutation_p.R214G|RCC1_ENST00000373831.3_Missense_Mutation_p.R245G			P18754	RCC1_HUMAN	regulator of chromosome condensation 1	214					cell division|chromosome segregation|G1/S transition of mitotic cell cycle|mitosis|mitotic spindle organization|regulation of mitosis|regulation of S phase of mitotic cell cycle|spindle assembly|viral reproduction	condensed nuclear chromosome|cytoplasm|nuclear chromatin|nuclear membrane|nucleoplasm	histone binding|nucleosomal DNA binding|Ran guanyl-nucleotide exchange factor activity			breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)		ATTTGCCAACCGTGGTGGCCG	0.597000													11	38					0	0	1	0	0
KIAA1407	57577	broad.mit.edu	37	3	113737711	113737711	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr3:113737711T>C	ENST00000295878.3	-	8	1123	c.977A>G	c.(976-978)cAa>cGa	p.Q326R	KIAA1407_ENST00000545063.1_Missense_Mutation_p.Q157R	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	326										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						ATACCGTTTTTGACACTGCAG	0.473000													42	173					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34383834	34383834	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:34383834C>T	ENST00000373381.4	-	5	957	c.781G>A	c.(781-783)Gag>Aag	p.E261K		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	221	CUB 2.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TTATGGTACTCCGAGGGGAAG	0.582000													6	25					0	0	1	0	0
LRPPRC	10128	broad.mit.edu	37	2	44187737	44187737	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr2:44187737G>A	ENST00000260665.7	-	13	1582	c.1525C>T	c.(1525-1527)Caa>Taa	p.Q509*	LRPPRC_ENST00000409946.1_Nonsense_Mutation_p.Q509*	NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	509					mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AATCCAGCTTGAGAAAACATA	0.323000													11	61					0	0	1	0	0
NEU2	4759	broad.mit.edu	37	2	233899378	233899378	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr2:233899378G>A	ENST00000233840.3	+	2	754	c.754G>A	c.(754-756)Ggg>Agg	p.G252R		NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN	sialidase 2 (cytosolic sialidase)	252							exo-alpha-sialidase activity			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)		CACCAATGACGGGCTTGATTT	0.672000													19	31					0	0	1	0	0
NXPE3	91775	broad.mit.edu	37	3	101540295	101540295	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr3:101540295C>T	ENST00000422132.1	+	5	1374	c.1177C>T	c.(1177-1179)Ctt>Ttt	p.L393F	NXPE3_ENST00000273347.5_Missense_Mutation_p.L393F|NXPE3_ENST00000477909.1_Missense_Mutation_p.L393F|NXPE3_ENST00000491511.1_Missense_Mutation_p.L393F					neurexophilin and PC-esterase domain family, member 3																		GGGTCCCTTCCTTGCAGTGGA	0.453000													19	25					0	0	1	0	0
PRICKLE1	144165	broad.mit.edu	37	12	42862430	42862430	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr12:42862430C>T	ENST00000455697.1	-	5	871	c.586G>A	c.(586-588)Gag>Aag	p.E196K	PRICKLE1_ENST00000445766.2_Missense_Mutation_p.E196K|PRICKLE1_ENST00000548696.1_Missense_Mutation_p.E196K|PRICKLE1_ENST00000552240.1_Missense_Mutation_p.E196K|PRICKLE1_ENST00000345127.3_Missense_Mutation_p.E196K	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	196	LIM zinc-binding 2.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		TTTTTTACCTCGTCACATGCT	0.403000													29	37					0	0	1	0	0
PCNT	5116	broad.mit.edu	37	21	47836592	47836592	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr21:47836592T>G	ENST00000359568.5	+	30	6867	c.6760T>G	c.(6760-6762)Tgc>Ggc	p.C2254G	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2254					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CCTGAGCCTGTGCAGTGCCGA	0.687000													20	56					0	0	1	0	0
APC	324	broad.mit.edu	37	5	112177991	112177991	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr5:112177991C>T	ENST00000457016.1	+	16	7080	c.6700C>T	c.(6700-6702)Cca>Tca	p.P2234S	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Missense_Mutation_p.P2234S|APC_ENST00000257430.4_Missense_Mutation_p.P2234S			P25054	APC_HUMAN	adenomatous polyposis coli	2234	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GATTCATATTCCAGGAGTTCG	0.443000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			34	26					0	0	1	0	0
FPR2	2358	broad.mit.edu	37	19	52272881	52272881	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr19:52272881G>A	ENST00000598776.1	+	2	1742	c.970G>A	c.(970-972)Gcc>Acc	p.A324T	FPR2_ENST00000598953.1_Missense_Mutation_p.A324T|FPR2_ENST00000340023.6_Missense_Mutation_p.A324T	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	324					cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						TCTGGAGAGGGCCCTGTCTGA	0.567000													23	42					0	0	1	0	0
FAM184A	79632	broad.mit.edu	37	6	119327297	119327297	+	Silent	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr6:119327297G>A	ENST00000522284.1	-	8	1875	c.1500C>T	c.(1498-1500)ttC>ttT	p.F500F	FAM184A_ENST00000521531.1_Intron|FAM184A_ENST00000338891.7_Intron|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000368475.4_Intron|FAM184A_ENST00000352896.5_Intron			Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	0										breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						ggcagagatggaaattatgtt	0.418000													13	39					0	0	1	0	0
NR4A3	8013	broad.mit.edu	37	9	102590532	102590532	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr9:102590532G>A	ENST00000330847.1	+	2	285	c.241G>A	c.(241-243)Gaa>Aaa	p.E81K	NR4A3_ENST00000338488.4_Missense_Mutation_p.E70K|NR4A3_ENST00000395097.2_Missense_Mutation_p.E70K			Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	70					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding		TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)				Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				GAGCAACTACGAACTCAAGCC	0.597000			T	EWSR1	extraskeletal myxoid chondrosarcoma								45	41					0	0	1	0	0
UBOX5	22888	broad.mit.edu	37	20	3102730	3102730	+	Silent	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr20:3102730G>A	ENST00000217173.2	-	3	1026	c.555C>T	c.(553-555)atC>atT	p.I185I	UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000348031.2_Silent_p.I185I	NM_001267584.1|NM_014948.3	NP_001254513.1|NP_055763.1	O94941	RNF37_HUMAN	U-box domain containing 5	185						nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	20						TGATACAAGGGATACCGCCGC	0.572000													36	35					0	0	1	0	0
KIAA1244	57221	broad.mit.edu	37	6	138564110	138564110	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr6:138564110C>T	ENST00000251691.4	+	7	731	c.565C>T	c.(565-567)Cca>Tca	p.P189S		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	189					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		CCCAGATGTCCCACAGGATTT	0.403000													4	10					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38949949	38949949	+	Silent	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr19:38949949C>T	ENST00000355481.4	+	19	2462	c.2331C>T	c.(2329-2331)ttC>ttT	p.F777F	RYR1_ENST00000359596.3_Silent_p.F777F|RYR1_ENST00000360985.3_Silent_p.F777F	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	777	B30.2/SPRY 1.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GGCTCTTCTTCCCTGTTGTCA	0.612000													11	15					0	0	1	0	0
CD300E	342510	broad.mit.edu	37	17	72613434	72613434	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr17:72613434C>T	ENST00000392619.1	-	2	327	c.292G>A	c.(292-294)Gag>Aag	p.E98K	CD300E_ENST00000426295.2_Missense_Mutation_p.E112K|CD300E_ENST00000328630.3_Missense_Mutation_p.E71K	NM_181449.2	NP_852114.2	Q496F6	CLM2_HUMAN	CD300e molecule	71	Ig-like V-type.					integral to membrane|plasma membrane	receptor activity			breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	19						CCATTCCTCTCCACCTTCTCT	0.522000													16	65					0	0	1	0	0
DSG1	1828	broad.mit.edu	37	18	28934459	28934459	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr18:28934459C>T	ENST00000257192.4	+	15	2512	c.2300C>T	c.(2299-2301)tCa>tTa	p.S767L	DSG1_ENST00000462981.2_Missense_Mutation_p.S126L|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	767					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			GGAAAAGAATCATATCCAGAC	0.478000													17	58					0	0	1	0	0
MST1R	4486	broad.mit.edu	37	3	49940747	49940747	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr3:49940747G>A	ENST00000296474.3	-	1	323	c.296C>T	c.(295-297)cCt>cTt	p.P99L	CTD-2330K9.2_ENST00000435478.1_RNA|MST1R_ENST00000344206.4_Missense_Mutation_p.P99L	NM_002447.2	NP_002438.2	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	99	Sema.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		CTGGCAGCCAGGGTCTCCAGC	0.642000													57	43					0	0	1	0	0
ATP8B2	57198	broad.mit.edu	37	1	154309857	154309857	+	Silent	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:154309857C>T	ENST00000368489.3	+	12	970	c.970C>T	c.(970-972)Ctg>Ttg	p.L324L	ATP8B2_ENST00000368487.3_Silent_p.L291L|ATP8B2_ENST00000341822.2_Silent_p.L310L|ATP8B2_ENST00000426445.1_3'UTR	NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	310					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GGGGGTGATCCTGGCCATTGG	0.552000													25	118					0	0	1	0	0
DMC1	11144	broad.mit.edu	37	22	38934387	38934387	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr22:38934387G>A	ENST00000216024.2	-	11	964	c.688C>T	c.(688-690)Cga>Tga	p.R230*	DMC1_ENST00000428462.2_Nonsense_Mutation_p.R175*	NM_007068.2	NP_008999.2	Q14565	DMC1_HUMAN	DNA meiotic recombinase 1	230					reciprocal meiotic recombination	condensed nuclear chromosome	ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding			large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11	Melanoma(58;0.0286)					AAATCCACTCGAAAAAGTGCC	0.378000								Homologous recombination					10	35					0	0	1	0	0
KDM4C	23081	broad.mit.edu	37	9	6793085	6793085	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr9:6793085C>T	ENST00000381309.3	+	2	662	c.97C>T	c.(97-99)Ctt>Ttt	p.L33F	KDM4C_ENST00000442236.2_5'UTR|KDM4C_ENST00000381306.3_Missense_Mutation_p.L33F|KDM4C_ENST00000543771.1_Missense_Mutation_p.L33F|KDM4C_ENST00000401787.3_Missense_Mutation_p.L33F|KDM4C_ENST00000535193.1_Missense_Mutation_p.L55F|KDM4C_ENST00000489243.1_3'UTR|KDM4C_ENST00000536108.1_5'UTR	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	33	JmjN.				positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid 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(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						CAACAAATACCTTGCATACAT	0.463000													32	52					0	0	1	0	0
KDM2B	84678	broad.mit.edu	37	12	121958817	121958817	+	Silent	SNP	G	G	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr12:121958817G>T	ENST00000377069.4	-	9	1331	c.925C>A	c.(925-927)Cgg>Agg	p.R309R	KDM2B_ENST00000377071.4_Silent_p.R340R|KDM2B_ENST00000536437.1_Silent_p.R223R|KDM2B_ENST00000538046.2_Intron|KDM2B_ENST00000543852.1_Silent_p.R109R	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	340	JmjC.				embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						TCGTAGATCCGCAGCTGCATG	0.617000													12	34					0.00010058	0.000100721	1	1	0
SHBG	6462	broad.mit.edu	37	17	7535019	7535019	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr17:7535019C>T	ENST00000380450.4	+	5	699	c.668C>T	c.(667-669)cCc>cTc	p.P223L	SHBG_ENST00000416273.3_Missense_Mutation_p.P223L|SHBG_ENST00000570547.1_Missense_Mutation_p.P165L|SHBG_ENST00000575314.1_Missense_Mutation_p.P165L|SHBG_ENST00000441599.2_Missense_Mutation_p.P223L|SHBG_ENST00000576478.1_Missense_Mutation_p.P111L|SHBG_ENST00000576728.1_Missense_Mutation_p.P111L|SHBG_ENST00000575903.1_Missense_Mutation_p.P205L|SHBG_ENST00000340624.5_Missense_Mutation_p.P165L|SHBG_ENST00000574539.1_Missense_Mutation_p.P165L|SHBG_ENST00000572182.1_Intron|SHBG_ENST00000572262.1_Missense_Mutation_p.P111L	NM_001040.3	NP_001031.2	P04278	SHBG_HUMAN	sex hormone-binding globulin	223					hormone transport	extracellular region	androgen binding|protein homodimerization activity	p.P223L(1)|p.0?(1)|p.?(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_cancers(10;0.0867)		READ - Rectum adenocarcinoma(115;0.168)	Danazol(DB01406)|Dromostanolone(DB00858)|Estradiol(DB00783)|Estrone(DB00655)|Fluoxymesterone(DB01185)|Hydrocortisone(DB00741)|Mitotane(DB00648)|Norethindrone(DB00717)|Testosterone(DB00624)	GAATCAAATCCCGGGATATTT	0.557000													51	179					0	0	1	0	0
PDGFRB	5159	broad.mit.edu	37	5	149502729	149502729	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr5:149502729C>T	ENST00000261799.4	-	15	2528	c.2059G>A	c.(2059-2061)Gga>Aga	p.G687R		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	687	Protein kinase.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	ACCAGGTCTCCGTAGCGGCAG	0.607000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""								27	40					0	0	1	0	0
MECOM	2122	broad.mit.edu	37	3	168833219	168833219	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr3:168833219G>A	ENST00000464456.1	-	7	3077	c.1877C>T	c.(1876-1878)tCc>tTc	p.S626F	MECOM_ENST00000472280.1_Missense_Mutation_p.S627F|MECOM_ENST00000468789.1_Missense_Mutation_p.S626F|MECOM_ENST00000460814.1_Missense_Mutation_p.S626F|MECOM_ENST00000264674.3_Missense_Mutation_p.S691F|MECOM_ENST00000392736.3_Missense_Mutation_p.S626F|MECOM_ENST00000433243.2_Missense_Mutation_p.S627F|MECOM_ENST00000494292.1_Missense_Mutation_p.S814F	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						ATGCTGCAAGGAACCATCTGA	0.463000													9	36					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21229306	21229306	+	Silent	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr2:21229306G>A	ENST00000233242.1	-	26	10561	c.10434C>T	c.(10432-10434)gaC>gaT	p.D3478D		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3478	Heparin-binding.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TAAGCTTGTGGTCAACTGCTC	0.413000													15	45					0	0	1	0	0
OR52A4P	390053	broad.mit.edu	37	11	5142484	5142484	+	RNA	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr11:5142484G>A	ENST00000498233.1	-	0	914																				breast(1)|endometrium(2)|kidney(1)|lung(12)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		TGAAATGTGTGGATGAGCCAC	0.458000													10	28					0	0	1	0	0
MED1	5469	broad.mit.edu	37	17	37566351	37566351	+	Missense_Mutation	SNP	A	A	C			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr17:37566351A>C	ENST00000300651.6	-	17	2346	c.2123T>G	c.(2122-2124)tTt>tGt	p.F708C	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	708	Interaction with ESR1.|Interaction with GATA1 (By similarity).|Interaction with VDR.			Missing (in Ref. 9; AAC41736).	androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		CTCCCTCTGAAAGTCATCTTC	0.463000										HNSCC(31;0.082)			18	68					0	0	1	0	0
OR4N5	390437	broad.mit.edu	37	14	20612085	20612085	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr14:20612085G>A	ENST00000333629.1	+	1	191	c.191G>A	c.(190-192)gGc>gAc	p.G64D		NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		TTCTTTCTGGGCAACTTGGCC	0.463000													56	216					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11554596	11554596	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr17:11554596C>T	ENST00000262442.3	+	13	2376	c.2308C>T	c.(2308-2310)Ctc>Ttc	p.L770F	DNAH9_ENST00000454412.2_Missense_Mutation_p.L770F	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	770	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AAATATTGATCTCCGCCTCAG	0.428000													11	28					0	0	1	0	0
LOC101929006	101929006	broad.mit.edu	37	6	29230478	29230478	+	RNA	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr6:29230478C>T	ENST00000441381.1	+	0	79																											ACTCCTTATTCCTTAGTGGGA	0.413000													13	17					0	0	1	0	0
LINC00842	643650	broad.mit.edu	37	10	47133618	47133618	+	RNA	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr10:47133618C>T	ENST00000422732.2	-	0	435					NR_033957.1																						accaaagccaccaagaccact	0.502000													6	104					0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8404586	8404586	+	Silent	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr9:8404586C>T	ENST00000381196.4	-	33	4704	c.4161G>A	c.(4159-4161)gcG>gcA	p.A1387A	PTPRD_ENST00000540109.1_Silent_p.A1387A|PTPRD_ENST00000358503.5_Silent_p.A1365A|PTPRD_ENST00000537002.1_Silent_p.A977A|PTPRD_ENST00000486161.1_Silent_p.A980A|PTPRD_ENST00000356435.5_Silent_p.A1387A|PTPRD_ENST00000355233.5_Silent_p.A981A|PTPRD_ENST00000397606.3_Silent_p.A980A|PTPRD_ENST00000397611.3_Silent_p.A977A|PTPRD_ENST00000397617.3_Silent_p.A980A|PTPRD_ENST00000360074.4_Silent_p.A1374A	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1387	Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CGATTACATTCGCGTATCTAT	0.378000										TSP Lung(15;0.13)			4	14					0	0	1	0	0
OR5P2	120065	broad.mit.edu	37	11	7817653	7817653	+	Silent	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr11:7817653G>A	ENST00000329434.2	-	1	867	c.837C>T	c.(835-837)ccC>ccT	p.P279P	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P, member 2	279					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GGTTCAACATGGGAATCACCA	0.428000													13	56					0	0	1	0	0
GAK	2580	broad.mit.edu	37	4	860229	860229	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr4:860229G>A	ENST00000314167.4	-	22	3076	c.2966C>T	c.(2965-2967)tCt>tTt	p.S989F	GAK_ENST00000509566.1_5'UTR|GAK_ENST00000511163.1_Missense_Mutation_p.S910F	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	989					cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		GACGGTCACAGAGTCCGAATT	0.622000													38	35					0	0	1	0	0
MASP2	10747	broad.mit.edu	37	1	11106640	11106640	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:11106640C>T	ENST00000400897.3	-	3	400	c.385G>A	c.(385-387)Ggg>Agg	p.G129R	MASP2_ENST00000400898.3_Missense_Mutation_p.G129R	NM_006610.3	NP_006601.2	O00187	MASP2_HUMAN	mannan-binding lectin serine peptidase 2	129	CUB 1.				complement activation, classical pathway|complement activation, lectin pathway|proteolysis	extracellular region	calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity			biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		GCCTCGAACCCCGTGAACGGC	0.612000													6	28					0	0	1	0	0
GTF3C3	9330	broad.mit.edu	37	2	197639929	197639929	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr2:197639929G>A	ENST00000263956.3	-	13	1831	c.1742C>T	c.(1741-1743)tCt>tTt	p.S581F		NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	581						transcription factor TFIIIC complex	DNA binding|protein binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						CCTCTCTCCAGACTTGGAACT	0.343000													8	28					0	0	1	0	0
CACNA1I	8911	broad.mit.edu	37	22	40073346	40073346	+	Splice_Site	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr22:40073346G>A	ENST00000336649.4	+	33	4873	c.4872_splice	c.e33-1	p.V1625_splice	CACNA1I_ENST00000407673.1_Splice_Site_p.V1584_splice|CACNA1I_ENST00000404898.1_Splice_Site_p.V1584_splice|CACNA1I_ENST00000402142.3_Splice_Site_p.V1619_splice|CACNA1I_ENST00000401624.1_Splice_Site_p.V1619_splice|CACNA1I_ENST00000400164.3_Splice_Site_p.V1584_splice			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1619					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	CCTCCCGCAGGTGGGCAACCT	0.677000													6	7					0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54685312	54685312	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr15:54685312C>A	ENST00000545554.1	+	17	4780	c.4780C>A	c.(4780-4782)Caa>Aaa	p.Q1594K	UNC13C_ENST00000537900.1_Missense_Mutation_p.Q1592K|UNC13C_ENST00000260323.11_Missense_Mutation_p.Q1594K			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1594					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TTTTTGGCCCCAACTTATTAC	0.383000													7	18					2.0095e-06	2.01516e-06	1	1	0
DNAH5	1767	broad.mit.edu	37	5	13839571	13839571	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr5:13839571C>T	ENST00000265104.4	-	35	5880	c.5776G>A	c.(5776-5778)Gaa>Aaa	p.E1926K		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1926	Stem (By similarity).				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)					TCAGAATCTTCGTTAAAGTAA	0.383000									Kartagener syndrome				8	27					0	0	1	0	0
PCDHA11	56138	broad.mit.edu	37	5	140250813	140250813	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr5:140250813C>T	ENST00000398640.2	+	1	2125	c.2125C>T	c.(2125-2127)Ctc>Ttc	p.L709F	PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGTCCAGCCTCCTGGTACT	0.672000													48	42					0	0	1	0	0
GDF5	8200	broad.mit.edu	37	20	34025399	34025399	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr20:34025399G>A	ENST00000374372.1	-	3	813	c.310C>T	c.(310-312)Cct>Tct	p.P104S	GDF5_ENST00000374369.3_Missense_Mutation_p.P104S			P43026	GDF5_HUMAN	growth differentiation factor 5	104					cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			TTGGGTTCAGGGCCGCCCGGT	0.632000													14	64					0	0	1	0	0
MDN1	23195	broad.mit.edu	37	6	90418324	90418324	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr6:90418324G>A	ENST00000369393.3	-	51	7904	c.7789C>T	c.(7789-7791)Ccc>Tcc	p.P2597S	MDN1_ENST00000428876.1_Missense_Mutation_p.P2597S			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2597					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TTCCATCGGGGATCCAGAGGG	0.408000													59	81					0	0	1	0	0
IGHV4-61	28391	broad.mit.edu	37	14	107095399	107095399	+	RNA	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr14:107095399G>A	ENST00000390630.2	-	0	181																											CCAGTCCTGGGCCCGACTCCT	0.627000													24	15					0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104118760	104118760	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr12:104118760G>A	ENST00000388887.2	+	45	4895	c.4691G>A	c.(4690-4692)gGc>gAc	p.G1564D		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	1564	EGF-like 14.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CAGAAAAATGGCGGCTGTAGT	0.463000													45	116					0	0	1	0	0
PLCB2	5330	broad.mit.edu	37	15	40590508	40590508	+	Silent	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr15:40590508C>T	ENST00000260402.3	-	11	1320	c.1071G>A	c.(1069-1071)gaG>gaA	p.E357E	PLCB2_ENST00000557821.1_Silent_p.E357E|PLCB2_ENST00000456256.2_Silent_p.E357E	NM_004573.2	NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	357	PI-PLC X-box.				activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		AGCAGTCTAGCTCCACGCAAC	0.597000													11	56					0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	160978466	160978466	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr6:160978466G>A	ENST00000447678.1	-	30	4889	c.4769C>T	c.(4768-4770)cCc>cTc	p.P1590L	LPA_ENST00000316300.5_Missense_Mutation_p.P1590L	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	4098	Kringle 14.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	p.P1590L(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	AACAACAGTGGGAGTCTCTAG	0.473000													18	58					0	0	1	0	0
TBX1	6899	broad.mit.edu	37	22	19750792	19750792	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr22:19750792C>T	ENST00000332710.4	+	4	568	c.439C>T	c.(439-441)Ctc>Ttc	p.L147F	TBX1_ENST00000359500.3_Missense_Mutation_p.L147F|TBX1_ENST00000329705.7_Missense_Mutation_p.L147F	NM_080647.1	NP_542378.1	O43435	TBX1_HUMAN	T-box 1	147					embryonic viscerocranium morphogenesis|heart development|parathyroid gland development|pharyngeal system development|regulation of transcription from RNA polymerase II promoter|soft palate development|thymus development	nucleus	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|lung(3)|ovary(2)	8	Colorectal(54;0.0993)	all_lung(157;3.05e-06)				CCAAGTGAAGCTCTTCGGCAT	0.617000													5	48					0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117665378	117665378	+	Silent	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr12:117665378G>A	ENST00000317775.6	-	23	4159	c.3474C>T	c.(3472-3474)ttC>ttT	p.F1158F	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Silent_p.F1192F	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	1158	FAD-binding FR-type.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GGATAGATGGGAACTCCTCCA	0.582000													23	81					0	0	1	0	0
NXPE3	91775	broad.mit.edu	37	3	101540294	101540294	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr3:101540294C>A	ENST00000422132.1	+	5	1373	c.1176C>A	c.(1174-1176)ttC>ttA	p.F392L	NXPE3_ENST00000273347.5_Missense_Mutation_p.F392L|NXPE3_ENST00000477909.1_Missense_Mutation_p.F392L|NXPE3_ENST00000491511.1_Missense_Mutation_p.F392L					neurexophilin and PC-esterase domain family, member 3																		TGGGTCCCTTCCTTGCAGTGG	0.448000													20	25					2.37509e-13	2.39528e-13	1	1	0
TOMM70A	9868	broad.mit.edu	37	3	100093867	100093867	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr3:100093867C>T	ENST00000284320.5	-	7	1670	c.1222G>A	c.(1222-1224)Gga>Aga	p.G408R		NM_014820.4	NP_055635.3	O94826	TOM70_HUMAN	translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae)	408					protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane translocase complex	protein binding|protein transmembrane transporter activity			endometrium(11)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	32						CTTACCTGTCCTCGGTGGTGA	0.403000													11	64					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9063190	9063190	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr19:9063190G>A	ENST00000397910.4	-	3	24459	c.24256C>T	c.(24256-24258)Cca>Tca	p.P8086S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8088	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATAACCATTGGAGATGTGACT	0.468000													13	53					0	0	1	0	0
HEATR6	63897	broad.mit.edu	37	17	58121158	58121158	+	Silent	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr17:58121158G>A	ENST00000184956.6	-	20	3328	c.3312C>T	c.(3310-3312)tcC>tcT	p.S1104S	HEATR6_ENST00000585976.1_Silent_p.S992S	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	1104							binding			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			GTAGAATATAGGACTGGACCA	0.493000													17	53					0	0	1	0	0
AKR1C3	8644	broad.mit.edu	37	10	5139719	5139719	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr10:5139719A>T	ENST00000380554.3	+	3	998	c.346A>T	c.(346-348)Att>Ttt	p.I116F	AKR1C3_ENST00000439082.2_5'UTR|AKR1C3_ENST00000605149.1_Missense_Mutation_p.I93F|AKR1C3_ENST00000470862.2_3'UTR	NM_001253908.1|NM_003739.5	NP_001240837.1|NP_003730.4	P42330	AK1C3_HUMAN	aldo-keto reductase family 1, member C3	116					prostaglandin metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (A-specific) activity|indanol dehydrogenase activity|prostaglandin-F synthase activity|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1)	14					Dimethyl sulfoxide(DB01093)|NADH(DB00157)	CCTCTATCTTATTCATTCTCC	0.403000													15	42					0	0	1	0	0
OR4D2	124538	broad.mit.edu	37	17	56247028	56247028	+	Silent	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr17:56247028G>A	ENST00000545221.1	+	1	12	c.12G>A	c.(10-12)ggG>ggA	p.G4G		NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D, member 2	4					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						TGGAAACAGGGAACCTCACGT	0.488000													14	73					0	0	1	0	0
MYO5A	4644	broad.mit.edu	37	15	52672096	52672096	+	Silent	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr15:52672096C>T	ENST00000399231.3	-	17	2265	c.2022G>A	c.(2020-2022)gaG>gaA	p.E674E	MYO5A_ENST00000553916.1_Silent_p.E674E|MYO5A_ENST00000356338.6_Silent_p.E674E|MYO5A_ENST00000399233.2_Silent_p.E674E|MYO5A_ENST00000358212.6_Silent_p.E674E	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	674	Myosin head-like.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		CTGCCCTCTTCTCATCAAACC	0.488000													18	59					0	0	1	0	0
MYRIP	25924	broad.mit.edu	37	3	40291797	40291797	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr3:40291797G>A	ENST00000302541.6	+	14	2689	c.2347G>A	c.(2347-2349)Gat>Aat	p.D783N	MYRIP_ENST00000539167.1_Missense_Mutation_p.D596N|MYRIP_ENST00000396217.3_Missense_Mutation_p.D694N|MYRIP_ENST00000444716.1_Missense_Mutation_p.D783N|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000425621.1_Missense_Mutation_p.D718N	NM_015460.2	NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	783	Actin-binding.				intracellular protein transport		actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		AAGAAGACGGGATCAGAAGCA	0.433000													16	16					0	0	1	0	0
WBSCR17	64409	broad.mit.edu	37	7	71036309	71036309	+	Silent	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr7:71036309G>A	ENST00000333538.5	+	6	1636	c.1002G>A	c.(1000-1002)agG>agA	p.R334R	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	334	Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				TGGTCAACAGGAAGTTCTTCG	0.502000													35	65					0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28260045	28260045	+	Silent	SNP	A	A	G			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr10:28260045A>G	ENST00000305242.5	-	8	1226	c.1134T>C	c.(1132-1134)aaT>aaC	p.N378N	ARMC4_ENST00000545014.1_Intron|ARMC4_ENST00000480504.1_5'UTR|ARMC4_ENST00000239715.3_Silent_p.N235N|ARMC4_ENST00000537576.1_Silent_p.N70N	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	378							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						ACCCTTTGTAATTAACAGTGG	0.328000													27	26					0	0	1	0	0
TGM1	7051	broad.mit.edu	37	14	24728307	24728307	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr14:24728307C>A	ENST00000206765.6	-	7	1256	c.1133G>T	c.(1132-1134)tGg>tTg	p.W378L	TGM1_ENST00000544573.1_Intron	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	378					cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	AGCAAAGACCCAGCACTGGCC	0.627000													12	30					7.93312e-07	7.96669e-07	1	1	0
NOLC1	9221	broad.mit.edu	37	10	103916802	103916802	+	Silent	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr10:103916802C>T	ENST00000405356.1	+	2	382	c.147C>T	c.(145-147)tcC>tcT	p.S49S	NOLC1_ENST00000605788.1_Silent_p.S49S|NOLC1_ENST00000603742.1_5'UTR|NOLC1_ENST00000488254.2_Silent_p.S49S			Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	49					mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding	p.S49S(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		ATGCCTCTTCCCTCTTAGACA	0.433000													83	75					0	0	1	0	0
WDPCP	51057	broad.mit.edu	37	2	63631766	63631766	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr2:63631766C>T	ENST00000409120.1	-	4	3826	c.276G>A	c.(274-276)tgG>tgA	p.W92*	WDPCP_ENST00000409562.3_Nonsense_Mutation_p.W284*|WDPCP_ENST00000409199.1_Nonsense_Mutation_p.W92*|WDPCP_ENST00000398544.3_Nonsense_Mutation_p.W125*|WDPCP_ENST00000272321.7_Nonsense_Mutation_p.W284*|WDPCP_ENST00000409835.1_5'UTR			O95876	FRITZ_HUMAN	WD repeat containing planar cell polarity effector	284					cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization	cilium axoneme|cytoplasm|cytoskeleton|plasma membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						CCAGTGGGTCCCATTCTGTGC	0.448000													11	54					0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128490508	128490508	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr7:128490508C>T	ENST00000325888.8	+	32	5630	c.5369C>T	c.(5368-5370)cCc>cTc	p.P1790L	FLNC_ENST00000346177.6_Missense_Mutation_p.P1757L|RP11-309L24.2_ENST00000469965.1_RNA	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1790					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CTGGTCATCCCCTTCGCGGTG	0.612000													44	102					0	0	1	0	0
AMPD1	270	broad.mit.edu	37	1	115223067	115223067	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:115223067G>A	ENST00000369538.3	-	5	714	c.667C>T	c.(667-669)Ccc>Tcc	p.P223S	AMPD1_ENST00000520113.2_Missense_Mutation_p.P227S|AMPD1_ENST00000353928.6_Missense_Mutation_p.P194S	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	194					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	GTTCGGAAGGGGTCCTCTCCC	0.413000													17	48					0	0	1	0	0
HNRNPCL1	343069	broad.mit.edu	37	1	12907540	12907540	+	Silent	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:12907540C>T	ENST00000317869.6	-	2	828	c.603G>A	c.(601-603)ctG>ctA	p.L201L		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1			heterogeneous nuclear ribonucleoprotein C-like 1											NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						CAATTTTTTCCAGGTTTTCCA	0.428000													34	65					0	0	1	0	0
ANO9	338440	broad.mit.edu	37	11	433424	433424	+	Silent	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr11:433424G>A	ENST00000332826.6	-	4	324	c.240C>T	c.(238-240)atC>atT	p.I80I		NM_001012302.2	NP_001012302.2	A1A5B4	ANO9_HUMAN	anoctamin 9	80						chloride channel complex	chloride channel activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						TGTCAGCACGGATCCCAAAGA	0.642000													26	48					0	0	1	0	0
HIPK1	204851	broad.mit.edu	37	1	114500849	114500849	+	Silent	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:114500849C>T	ENST00000369558.1	+	8	2149	c.1917C>T	c.(1915-1917)acC>acT	p.T639T	HIPK1_ENST00000369553.1_Silent_p.T245T|HIPK1_ENST00000369554.2_Silent_p.T639T|HIPK1_ENST00000369555.2_Silent_p.T639T|HIPK1_ENST00000426820.2_Silent_p.T639T|HIPK1_ENST00000406344.1_Silent_p.T245T|HIPK1_ENST00000369561.4_Silent_p.T605T|HIPK1_ENST00000340480.4_Silent_p.T265T|HIPK1_ENST00000369559.4_Silent_p.T639T			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	639					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTGGAACCACCCAGATTTGCA	0.463000													8	35					0	0	1	0	0
LHCGR	3973	broad.mit.edu	37	2	48915809	48915809	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr2:48915809C>T	ENST00000294954.7	-	11	1148	c.1127G>A	c.(1126-1128)gGa>gAa	p.G376E	LHCGR_ENST00000344775.3_Missense_Mutation_p.G314E|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000401907.1_Intron|LHCGR_ENST00000403273.1_Intron|LHCGR_ENST00000405626.1_Missense_Mutation_p.G349E	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	376					male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	AGTCATGTTTCCCATGATGGC	0.423000													6	43					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238283353	238283353	+	Silent	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr2:238283353C>T	ENST00000295550.4	-	8	3833	c.3381G>A	c.(3379-3381)agG>agA	p.R1127R	COL6A3_ENST00000347401.3_Silent_p.R926R|COL6A3_ENST00000346358.4_Silent_p.R927R|COL6A3_ENST00000353578.4_Silent_p.R921R|COL6A3_ENST00000392004.3_Silent_p.R921R|COL6A3_ENST00000409809.1_Silent_p.R921R|COL6A3_ENST00000392003.2_Silent_p.R720R|COL6A3_ENST00000472056.1_Silent_p.R520R	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1127	Nonhelical region.|VWFA 6.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CTTCTGTTATCCTGCTTCCCG	0.657000													8	51					0	0	1	0	0
LTBP2	4053	broad.mit.edu	37	14	75016650	75016650	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr14:75016650C>T	ENST00000261978.4	-	8	2091	c.1705G>A	c.(1705-1707)Gag>Aag	p.E569K	LTBP2_ENST00000556690.1_Missense_Mutation_p.E569K|LTBP2_ENST00000557425.1_5'UTR	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	569	TB 1.				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GTAGTCAGCTCCAGCAGAGGG	0.632000													21	59					0	0	1	0	0
ZNF292	23036	broad.mit.edu	37	6	87967172	87967172	+	Silent	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr6:87967172C>T	ENST00000369577.3	+	8	3868	c.3825C>T	c.(3823-3825)ttC>ttT	p.F1275F	ZNF292_ENST00000339907.4_Silent_p.F1270F	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1275					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		TGTCTCTCTTCCCTTCACCAG	0.383000													3	16					0	0	1	0	0
ITIH1	3697	broad.mit.edu	37	3	52813518	52813518	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr3:52813518C>T	ENST00000273283.2	+	5	505	c.481C>T	c.(481-483)Cag>Tag	p.Q161*	ITIH1_ENST00000540715.1_Nonsense_Mutation_p.Q19*|ITIH1_ENST00000542827.1_Nonsense_Mutation_p.Q161*	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	161	VIT.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		GGTCACGTTTCAGCTGACTTA	0.498000													34	23					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237965207	237965207	+	Silent	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:237965207C>T	ENST00000366574.2	+	98	14459	c.14142C>T	c.(14140-14142)ttC>ttT	p.F4714F	RYR2_ENST00000360064.6_Silent_p.F4720F|RYR2_ENST00000542537.1_Silent_p.F4698F	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4714					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GAGTCGTTTTCACTGACAACG	0.368000													10	11					0	0	1	0	0
KAT6B	23522	broad.mit.edu	37	10	76735663	76735663	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr10:76735663C>T	ENST00000287239.4	+	8	2057	c.1568C>T	c.(1567-1569)tCc>tTc	p.S523F	KAT6B_ENST00000372711.1_Intron|KAT6B_ENST00000372714.1_Intron|KAT6B_ENST00000372724.1_Intron|KAT6B_ENST00000372725.1_Intron	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN	K(lysine) acetyltransferase 6B	523	Negatively regulates HAT activity.|Poly-Ser.|Ser-rich.				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding										CAGAGTTCTTCCAGCCAGTGC	0.562000													37	26					0	0	1	0	0
DENND1A	57706	broad.mit.edu	37	9	126429330	126429330	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr9:126429330C>T	ENST00000373624.2	-	8	683	c.482G>A	c.(481-483)aGa>aAa	p.R161K	DENND1A_ENST00000394215.2_Missense_Mutation_p.R131K|DENND1A_ENST00000373618.1_Missense_Mutation_p.R129K|DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000373620.3_Missense_Mutation_p.R161K|DENND1A_ENST00000394219.3_Missense_Mutation_p.R129K	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	161	DENN.					cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity	p.R161I(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						GGGAAGTTCTCTGGTATCAGG	0.303000													5	5					0	0	1	0	0
CNOT1	23019	broad.mit.edu	37	16	58621701	58621701	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr16:58621701G>A	ENST00000317147.5	-	4	624	c.292C>T	c.(292-294)Cca>Tca	p.P98S	CNOT1_ENST00000569240.1_Missense_Mutation_p.P98S|CNOT1_ENST00000441024.2_Missense_Mutation_p.P98S	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	98					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TAGTGCAATGGATTATCAATG	0.358000													13	26					0	0	1	0	0
AGTR1	185	broad.mit.edu	37	3	148459237	148459237	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr3:148459237C>T	ENST00000542281.1	+	4	861	c.415C>T	c.(415-417)Cga>Tga	p.R139*	AGTR1_ENST00000349243.3_Nonsense_Mutation_p.R139*|AGTR1_ENST00000475347.1_Nonsense_Mutation_p.R139*|AGTR1_ENST00000497524.1_Nonsense_Mutation_p.R139*|AGTR1_ENST00000461609.1_Nonsense_Mutation_p.R139*|AGTR1_ENST00000418473.2_Nonsense_Mutation_p.R139*|AGTR1_ENST00000474935.1_Nonsense_Mutation_p.R139*|AGTR1_ENST00000402260.1_Nonsense_Mutation_p.R139*|AGTR1_ENST00000404754.2_Nonsense_Mutation_p.R139*	NM_031850.3	NP_114038.4	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	139					calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity	p.R139*(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	GTCCCGCCTTCGACGCACAAT	0.478000													60	63					0	0	1	0	0
C12orf10	60314	broad.mit.edu	37	12	53700517	53700517	+	Silent	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr12:53700517G>A	ENST00000267103.5	+	6	871	c.819G>A	c.(817-819)aaG>aaA	p.K273K	C12orf10_ENST00000548632.1_Silent_p.K198K|C12orf10_ENST00000549488.1_Silent_p.K110K	NM_021640.3	NP_067653.3	Q86UA3	Q86UA3_HUMAN	chromosome 12 open reading frame 10	273										cervix(1)|endometrium(3)|kidney(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	20						GTCCCTGGAAGGAGCATCTCT	0.532000													45	51					0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77465388	77465388	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr16:77465388C>T	ENST00000282849.5	-	3	717	c.299G>A	c.(298-300)cGa>cAa	p.R100Q	ADAMTS18_ENST00000567121.1_5'UTR	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	100					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						TGCTGAAAATCGGTAGTGCAG	0.473000													35	181					0	0	1	0	0
RNASEH1	246243	broad.mit.edu	37	2	3597966	3597966	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr2:3597966G>A	ENST00000315212.3	-	4	861	c.506C>T	c.(505-507)cCt>cTt	p.P169L		NM_002936.3	NP_002927.2	O60930	RNH1_HUMAN	ribonuclease H1	169	RNase H.				RNA catabolic process	cytoplasm	magnesium ion binding|ribonuclease H activity|RNA binding			endometrium(1)|kidney(1)|lung(7)|ovary(1)|prostate(2)|skin(1)	13	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0713)|Epithelial(75;0.167)|all cancers(51;0.22)		AACTTACAAAGGATGGCCTGG	0.493000													31	114					0	0	1	0	0
SLITRK1	114798	broad.mit.edu	37	13	84454061	84454061	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr13:84454061C>T	ENST00000377084.2	-	1	2467	c.1582G>A	c.(1582-1584)Gga>Aga	p.G528R		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	528						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		CAGGGGTTTCCGTGGAGGTCT	0.552000													19	40					0	0	1	0	0
MUC13	56667	broad.mit.edu	37	3	124639106	124639106	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr3:124639106C>T	ENST00000311075.3	-	5	810	c.772G>A	c.(772-774)Gga>Aga	p.G258R		NM_033049.3	NP_149038.3	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	258	SEA.					extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						ACAGTCTGTCCATAAACAGAT	0.333000													3	17					0	0	1	0	0
AKR1D1	6718	broad.mit.edu	37	7	137776576	137776576	+	Silent	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr7:137776576C>T	ENST00000242375.3	+	3	366	c.324C>T	c.(322-324)gtC>gtT	p.V108V	AKR1D1_ENST00000411726.2_Silent_p.V108V|AKR1D1_ENST00000432161.1_Silent_p.V108V|AKR1D1_ENST00000468877.2_3'UTR	NM_005989.3	NP_005980.1	P51857	AK1D1_HUMAN	aldo-keto reductase family 1, member D1	108					androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|C21-steroid hormone metabolic process|cholesterol catabolic process|digestion	cytosol	aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23						CACTCAGGGTCCTCCAGCTAG	0.483000													21	46					0	0	1	0	0
RALGPS2	55103	broad.mit.edu	37	1	178863065	178863065	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:178863065C>T	ENST00000367635.3	+	16	1675	c.1337C>T	c.(1336-1338)tCa>tTa	p.S446L	RALGPS2_ENST00000324778.4_Missense_Mutation_p.S411L|RALGPS2_ENST00000477383.1_3'UTR|RALGPS2_ENST00000367634.2_Missense_Mutation_p.S420L	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	446					small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						TCTGCAGAATCAGAAGATTTG	0.313000													5	13					0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124390621	124390621	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr10:124390621G>A	ENST00000338354.3	+	46	5889	c.5783G>A	c.(5782-5784)gGg>gAg	p.G1928E	DMBT1_ENST00000359586.6_Missense_Mutation_p.G648E|DMBT1_ENST00000330163.4_Missense_Mutation_p.G1300E|DMBT1_ENST00000368955.3_Missense_Mutation_p.G1918E|DMBT1_ENST00000368956.2_Missense_Mutation_p.G1300E|DMBT1_ENST00000368909.3_Missense_Mutation_p.G1928E|DMBT1_ENST00000344338.3_Missense_Mutation_p.G1918E			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1928	SRCR 14.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				AGACAGCTAGGGTGTGGACGT	0.552000													12	18					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238289678	238289678	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr2:238289678C>T	ENST00000295550.4	-	5	2229	c.1777G>A	c.(1777-1779)Gaa>Aaa	p.E593K	COL6A3_ENST00000347401.3_Missense_Mutation_p.E392K|COL6A3_ENST00000346358.4_Missense_Mutation_p.E593K|COL6A3_ENST00000353578.4_Missense_Mutation_p.E387K|COL6A3_ENST00000392004.3_Missense_Mutation_p.E387K|COL6A3_ENST00000409809.1_Missense_Mutation_p.E387K|COL6A3_ENST00000392003.2_Missense_Mutation_p.E186K|COL6A3_ENST00000472056.1_Missense_Mutation_p.E186K	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	593	Nonhelical region.|VWFA 3.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GCGATCTCTTCCAGCTCAGCC	0.572000													14	33					0	0	1	0	0
VIPR1	7433	broad.mit.edu	37	3	42572997	42572997	+	Silent	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr3:42572997C>T	ENST00000433647.1	+	9	1326	c.702C>T	c.(700-702)atC>atT	p.I234I	VIPR1-AS1_ENST00000452639.2_RNA|VIPR1_ENST00000438259.2_Silent_p.I65I|VIPR1-AS1_ENST00000602176.1_RNA|VIPR1-AS1_ENST00000601312.1_RNA|VIPR1_ENST00000325123.4_Silent_p.I275I|VIPR1-AS1_ENST00000600342.1_RNA|VIPR1-AS1_ENST00000598837.1_RNA|VIPR1-AS1_ENST00000596630.1_RNA|VIPR1-AS1_ENST00000593611.1_RNA|VIPR1-AS1_ENST00000593621.1_RNA|VIPR1_ENST00000543411.1_Silent_p.I227I	NM_001251882.1	NP_001238811.1	P32241	VIPR1_HUMAN	vasoactive intestinal peptide receptor 1	275					digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|muscle contraction|positive regulation of cell proliferation|synaptic transmission	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|ovary(2)|skin(1)|urinary_tract(3)	18				KIRC - Kidney renal clear cell carcinoma(284;0.241)		TGTGGACCATCGCCAGGATCC	0.607000													5	4					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152527582	152527582	+	Silent	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr2:152527582G>A	ENST00000397345.3	-	38	4663	c.4461C>T	c.(4459-4461)tcC>tcT	p.S1487S	NEB_ENST00000603639.1_Silent_p.S1487S|NEB_ENST00000172853.10_Silent_p.S1487S|NEB_ENST00000604864.1_Silent_p.S1487S|NEB_ENST00000427231.2_Silent_p.S1487S|NEB_ENST00000409198.1_Silent_p.S1487S	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	1487					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CCATGCCCATGGAATCAGGCA	0.478000													4	32					0	0	1	0	0
PFKFB4	5210	broad.mit.edu	37	3	48557221	48557221	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr3:48557221G>A	ENST00000232375.3	-	14	1481	c.1369C>T	c.(1369-1371)Cct>Tct	p.P457S	PFKFB4_ENST00000383734.2_Missense_Mutation_p.P422S|PFKFB4_ENST00000416568.1_Missense_Mutation_p.P450S|PFKFB4_ENST00000536104.1_Missense_Mutation_p.P446S|PFKFB4_ENST00000541519.1_Missense_Mutation_p.P423S|PFKFB4_ENST00000490115.1_5'UTR	NM_004567.2	NP_004558.1	Q16877	F264_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4	457	Fructose-2,6-bisphosphatase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		TCCTCTGGAGGTCTTGAGATG	0.537000													32	21					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179593081	179593081	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr2:179593081C>T	ENST00000589042.1	-	67	19694	c.19470G>A	c.(19468-19470)atG>atA	p.M6490I	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.M6173I|TTN_ENST00000342992.6_Missense_Mutation_p.M5246I|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6173	Ig-like 46.						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)			GAACTTTATCCATTTTGGTTA	0.358000													4	13					0	0	1	0	0
UNC5B	219699	broad.mit.edu	37	10	73051457	73051457	+	Silent	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr10:73051457C>T	ENST00000335350.6	+	10	1979	c.1563C>T	c.(1561-1563)ttC>ttT	p.F521F	UNC5B_ENST00000373192.4_Silent_p.F510F	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	521					apoptosis|axon guidance|regulation of apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						ACACCCACTTCCTGCACCTGC	0.697000													26	44					0	0	1	0	0
HELZ2	85441	broad.mit.edu	37	20	62191413	62191413	+	Missense_Mutation	SNP	G	G	A	rs147749912		TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr20:62191413G>A	ENST00000467148.1	-	18	7762	c.7693C>T	c.(7693-7695)Cgc>Tgc	p.R2565C	HELZ2_ENST00000427522.2_Missense_Mutation_p.R1996C	NM_001037335.2	NP_001032412.2			helicase with zinc finger 2, transcriptional coactivator																		GCACAGGTGCGGACGGTGCTC	0.667000													8	44					0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47832359	47832359	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr7:47832359C>T	ENST00000289672.2	-	56	8442	c.8392G>A	c.(8392-8394)Gaa>Aaa	p.E2798K		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2798					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						ATCAGAAGTTCGTCTAACAGA	0.403000													9	64					0	0	1	0	0
RSPH6A	81492	broad.mit.edu	37	19	46307996	46307996	+	Silent	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr19:46307996C>T	ENST00000221538.3	-	3	1309	c.1167G>A	c.(1165-1167)gaG>gaA	p.E389E	RSPH6A_ENST00000600188.1_Silent_p.E125E|RSPH6A_ENST00000597055.1_Silent_p.E389E	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	389	Glu-rich.					intracellular				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						cgccctcctcctcgccgtgcg	0.672000													14	12					0	0	1	0	0
KIF4B	285643	broad.mit.edu	37	5	154396482	154396482	+	Silent	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr5:154396482C>T	ENST00000435029.4	+	1	3223	c.3063C>T	c.(3061-3063)atC>atT	p.I1021I		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	1021	Globular (By similarity).|Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TTGAATATATCCCACCTAAGC	0.408000													30	54					0	0	1	0	0
CNGA1	1259	broad.mit.edu	37	4	47939335	47939335	+	Silent	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr4:47939335G>A	ENST00000402813.3	-	10	1525	c.1383C>T	c.(1381-1383)atC>atT	p.I461I	CNGA1_ENST00000514170.1_Silent_p.I392I|CNGA1_ENST00000544810.1_Silent_p.I392I|CNGA1_ENST00000358519.4_Silent_p.I392I|CNGA1_ENST00000420489.2_Silent_p.I392I			P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1	392					response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						TGTTACCAACGATGGTAGCAA	0.398000													34	48					0	0	1	0	0
KCNJ12	3768	broad.mit.edu	37	17	21319489	21319489	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr17:21319489C>T	ENST00000583088.1	+	3	1730	c.835C>T	c.(835-837)Ccg>Tcg	p.P279S	KCNJ12_ENST00000331718.5_Missense_Mutation_p.P279S	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12											NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		CGAGGCCAGCCCGCTCTTCGG	0.607000										Prostate(3;0.18)			13	71					0	0	1	0	0
TXNRD3NB	645840	broad.mit.edu	37	3	126291210	126291210	+	Silent	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr3:126291210G>A	ENST00000383572.2	-	3	655	c.177C>T	c.(175-177)ccC>ccT	p.P59P	TXNRD3NB_ENST00000404489.2_Silent_p.P59P	NM_001039783.1	NP_001034872.1	Q6F5E7	TR3N_HUMAN	thioredoxin reductase 3 neighbor	59										endometrium(1)|large_intestine(2)|skin(2)	5						CCAGGGGACTGGGAAACCCCT	0.552000													16	61					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228548354	228548354	+	Silent	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:228548354C>T	ENST00000284548.11	+	81	19835	c.19761C>T	c.(19759-19761)acC>acT	p.T6587T	OBSCN_ENST00000366709.4_Silent_p.T3706T|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000570156.2_Intron|OBSCN_ENST00000366707.4_Intron			Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	0	Protein kinase 1.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCAGCTTCACCACAGAGCTTT	0.657000													5	29					0	0	1	0	0
ATP6V1H	51606	broad.mit.edu	37	8	54723722	54723722	+	Splice_Site	SNP	A	A	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr8:54723722A>T	ENST00000359530.2	-	7	843		c.e7+1		ATP6V1H_ENST00000355221.3_Intron|ATP6V1H_ENST00000396774.2_Splice_Site|ATP6V1H_ENST00000520188.1_Splice_Site	NM_015941.3	NP_057025.2	Q9UI12	VATH_HUMAN	ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H						ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|endocytosis|insulin receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|transferrin transport|vacuolar acidification|viral reproduction	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase, V1 domain	enzyme regulator activity|protein binding|proton-transporting ATPase activity, rotational mechanism			endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	18		all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359)			GAATATACTTACATCACTTGA	0.318000													10	40					0	0	1	0	0
A2M	2	broad.mit.edu	37	12	9266021	9266021	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr12:9266021C>T	ENST00000318602.7	-	2	512	c.205G>A	c.(205-207)Gga>Aga	p.G69R		NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN	alpha-2-macroglobulin	69					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	CTCCTGTTTCCCCTGACAGAC	0.532000													25	85					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31322974	31322974	+	Silent	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr18:31322974C>T	ENST00000269197.5	+	12	3162	c.3162C>T	c.(3160-3162)ctC>ctT	p.L1054L		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1054	Ala-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CCAGGACCCTCGCAGATATCA	0.592000													7	11					0	0	1	0	0
PTK2B	2185	broad.mit.edu	37	8	27288406	27288406	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr8:27288406G>A	ENST00000397501.1	+	13	1491	c.683G>A	c.(682-684)cGg>cAg	p.R228Q	PTK2B_ENST00000346049.5_Missense_Mutation_p.R228Q|PTK2B_ENST00000517339.1_Missense_Mutation_p.R228Q|PTK2B_ENST00000338238.4_Missense_Mutation_p.R228Q|PTK2B_ENST00000420218.2_Missense_Mutation_p.R228Q|PTK2B_ENST00000544172.1_Missense_Mutation_p.R228Q	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	228	FERM.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		AAACAGTTCCGGAAGATGATC	0.602000													24	83					0	0	1	0	0
CHAT	1103	broad.mit.edu	37	10	50835824	50835824	+	Silent	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr10:50835824C>T	ENST00000395562.2	+	8	1327	c.858C>T	c.(856-858)ctC>ctT	p.L286L	CHAT_ENST00000395559.2_Silent_p.L250L|CHAT_ENST00000339797.1_Silent_p.L250L|CHAT_ENST00000351556.3_Silent_p.L250L|CHAT_ENST00000455728.2_Silent_p.L250L|CHAT_ENST00000337653.2_Silent_p.L368L	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN	choline O-acetyltransferase	368					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	GGACGGTCCTCGTGAAAGGTC	0.612000													33	22					0	0	1	0	0
IVL	3713	broad.mit.edu	37	1	152882555	152882555	+	Silent	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:152882555G>A	ENST00000368764.3	+	2	346	c.282G>A	c.(280-282)caG>caA	p.Q94Q	IVL_ENST00000392667.2_5'UTR			P07476	INVO_HUMAN	involucrin	94					isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			actgggaacagcaTGAGGAAT	0.488000													12	31					0	0	1	0	0
ITGAD	3681	broad.mit.edu	37	16	31425813	31425813	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr16:31425813C>T	ENST00000389202.2	+	17	2087	c.2038C>T	c.(2038-2040)Cca>Tca	p.P680S		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	680					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GGCACTGGACCCAGGTCGTCT	0.473000													38	200					0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24509862	24509862	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr5:24509862G>A	ENST00000264463.4	-	7	1576	c.1069C>T	c.(1069-1071)Ccc>Tcc	p.P357S		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	357	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TAAAAACGGGGATCTACATGG	0.368000										HNSCC(23;0.051)			11	28					0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117709096	117709096	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr6:117709096C>T	ENST00000368508.3	-	13	2059	c.1861G>A	c.(1861-1863)Gaa>Aaa	p.E621K	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.E616K	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	621	Fibronectin type-III 3.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TGAGTGACTTCAGGAGGGTCT	0.438000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								60	102					0	0	1	0	0
NLRC3	197358	broad.mit.edu	37	16	3614498	3614498	+	RNA	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr16:3614498G>A	ENST00000301749.7	-	0	845				NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000324659.8_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GCCCATGCCGGCCACCCCGAT	0.701000													16	70					0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7528552	7528552	+	Silent	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr12:7528552C>T	ENST00000313599.3	-	10	2487	c.2430G>A	c.(2428-2430)gtG>gtA	p.V810V	CD163L1_ENST00000416109.2_Silent_p.V820V|CD163L1_ENST00000396630.1_Silent_p.V810V|CD163L1_ENST00000544331.1_5'UTR			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	810	SRCR 8.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CTGCATGTTTCACTTCAACAC	0.453000													27	50					0	0	1	0	0
ELF1	1997	broad.mit.edu	37	13	41533055	41533055	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr13:41533055G>C	ENST00000239882.3	-	3	484	c.170C>G	c.(169-171)cCc>cGc	p.P57R	ELF1_ENST00000442101.1_Missense_Mutation_p.P57R|ELF1_ENST00000498824.1_5'UTR	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription factor)	57					positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		CATGTCATTGGGCTCTTCCAC	0.453000													23	59					0	0	1	0	0
CDH19	28513	broad.mit.edu	37	18	64211262	64211262	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr18:64211262G>A	ENST00000262150.2	-	7	1452	c.1160C>T	c.(1159-1161)tCa>tTa	p.S387L	CDH19_ENST00000540086.1_Missense_Mutation_p.S387L	NM_021153.2	NP_066976.1	Q9H159	CAD19_HUMAN	cadherin 19, type 2	387	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				GCCTACAAATGATCCCTGTGG	0.388000													5	30					0	0	1	0	0
COG8	84342	broad.mit.edu	37	16	69369149	69369149	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr16:69369149C>T	ENST00000306875.4	-	3	802	c.688G>A	c.(688-690)Ggc>Agc	p.G230S	RP11-343C2.9_ENST00000563634.1_Missense_Mutation_p.G105S|COG8_ENST00000562081.1_Missense_Mutation_p.G230S	NM_032382.4	NP_115758.3	Q96MW5	COG8_HUMAN	component of oligomeric golgi complex 8	230					protein transport	Golgi membrane|Golgi transport complex				breast(3)|kidney(1)|large_intestine(2)|ovary(2)|skin(1)	9						CGCAGGTAGCCAATGACACGG	0.582000													11	17					0	0	1	0	0
COX10	1352	broad.mit.edu	37	17	13980184	13980184	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr17:13980184C>T	ENST00000261643.3	+	3	387	c.310C>T	c.(310-312)Ccg>Tcg	p.P104S	COX10_ENST00000536205.1_5'UTR|COX10_ENST00000537334.1_Intron|COX10_ENST00000429152.2_Missense_Mutation_p.P104S	NM_001303.3	NP_001294.2	Q12887	COX10_HUMAN	cytochrome c oxidase assembly homolog 10 (yeast)	104					heme a biosynthetic process|heme O biosynthetic process|respiratory chain complex IV assembly	integral to membrane|mitochondrial membrane	protoheme IX farnesyltransferase activity			cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		all_lung(20;0.06)|Lung SC(565;0.168)		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)		ACCTCTCTCACCGCCCAGCCT	0.428000													6	33					0	0	1	0	0
HBD	3045	broad.mit.edu	37	11	5255238	5255238	+	Missense_Mutation	SNP	C	C	T	rs35329985		TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr11:5255238C>T	ENST00000380299.3	-	2	512	c.298G>A	c.(298-300)Gat>Aat	p.D100N	HBD_ENST00000292901.3_Missense_Mutation_p.D100N	NM_000519.3	NP_000510.1	P02042	HBD_HUMAN	hemoglobin, delta	100			D -> N (in Canada; O(2) affinity up; dbSNP:rs35329985).		blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			endometrium(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	16		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTCTCAGGATCCACGTGCAGC	0.478000													18	47					0	0	1	0	0
CD8B	926	broad.mit.edu	37	2	87042742	87042742	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr2:87042742G>A	ENST00000393761.2	-	4	651	c.593C>T	c.(592-594)tCc>tTc	p.S198F	CD8B_ENST00000331469.2_Silent_p.I240I|CD8B_ENST00000393759.2_3'UTR|CD8B_ENST00000349455.3_Silent_p.I210I	NM_001178100.1	NP_001171571.1	P10966	CD8B_HUMAN	CD8b molecule	0					immune response|regulation of defense response to virus by virus|regulation of immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway|viral reproduction	early endosome|extracellular region|integral to plasma membrane|T cell receptor complex	coreceptor activity|MHC class I protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	13						ATGTTTTCAGGATCCATGGGT	0.498000													64	226					0	0	1	0	0
DAG1	1605	broad.mit.edu	37	3	49569036	49569036	+	Silent	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr3:49569036G>A	ENST00000545947.1	+	6	1814	c.1092G>A	c.(1090-1092)ggG>ggA	p.G364G	DAG1_ENST00000541308.1_Silent_p.G364G|DAG1_ENST00000308775.2_Silent_p.G364G|DAG1_ENST00000539901.1_Silent_p.G364G|DAG1_ENST00000538711.1_Silent_p.G364G|DAG1_ENST00000515359.2_Silent_p.G364G	NM_001177634.2	NP_001171105.1	Q14118	DAG1_HUMAN	dystroglycan 1 (dystrophin-associated glycoprotein 1)	364	Mucin-like domain.|Required for laminin recognition.|Thr-rich.				cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade	basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm	actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding			NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CTGTTCCTGGGAAACCCACGG	0.602000													58	71					0	0	1	0	0
EFCAB7	84455	broad.mit.edu	37	1	63998360	63998360	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:63998360G>C	ENST00000371088.4	+	4	665	c.419G>C	c.(418-420)cGa>cCa	p.R140P		NM_032437.2	NP_115813.2	A8K855	EFCB7_HUMAN	EF-hand calcium binding domain 7	140	EF-hand 2.						calcium ion binding			breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						AAGATGACTCGAGAAGAAGTA	0.323000													4	18					0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74004005	74004005	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr17:74004005C>T	ENST00000301607.3	-	22	5534	c.5281G>A	c.(5281-5283)Gag>Aag	p.E1761K	EVPL_ENST00000586740.1_Missense_Mutation_p.E1783K	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1761	Globular 2.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						TGGTACTCCTCCTTAGAGATG	0.637000													13	49					0	0	1	0	0
CYP26A1	1592	broad.mit.edu	37	10	94835604	94835604	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr10:94835604G>A	ENST00000371531.1	+	5	1057	c.679G>A	c.(679-681)Gaa>Aaa	p.E227K	CYP26A1_ENST00000394139.1_Missense_Mutation_p.E227K|CYP26A1_ENST00000224356.4_Missense_Mutation_p.E296K	NM_057157.2	NP_476498.1	O43174	CP26A_HUMAN	cytochrome P450, family 26, subfamily A, polypeptide 1	296					negative regulation of retinoic acid receptor signaling pathway|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|oxygen binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Colorectal(252;0.122)				ATCTTCAACCGAACTCCTCTT	0.493000													21	14					0	0	1	0	0
GPR156	165829	broad.mit.edu	37	3	119886926	119886926	+	Silent	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr3:119886926G>A	ENST00000464295.1	-	10	1843	c.1398C>T	c.(1396-1398)tcC>tcT	p.S466S	GPR156_ENST00000315843.3_Silent_p.S466S|GPR156_ENST00000461057.1_Silent_p.S462S			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	466						integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		CCTTCCCTGGGGAGAAGCTGG	0.537000													29	39					0	0	1	0	0
MSLNL	401827	broad.mit.edu	37	16	830710	830710	+	Silent	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr16:830710G>A	ENST00000293892.3	-	3	290	c.291C>T	c.(289-291)ccC>ccT	p.P97P	MSLNL_ENST00000442466.1_Intron			Q96KJ4	MSLNL_HUMAN	mesothelin-like	0					cell adhesion	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						CAGTGTGCATGGGTAGGTGAC	0.582000													73	110					0	0	1	0	0
OR5J2	282775	broad.mit.edu	37	11	55944405	55944405	+	Silent	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr11:55944405C>T	ENST00000312298.1	+	1	312	c.312C>T	c.(310-312)ttC>ttT	p.F104F		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	104					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					ATTTGTGTTTCGGAGTGTTCA	0.473000													16	62					0	0	1	0	0
TOMM70A	9868	broad.mit.edu	37	3	100093866	100093866	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr3:100093866C>T	ENST00000284320.5	-	7	1671	c.1223G>A	c.(1222-1224)gGa>gAa	p.G408E		NM_014820.4	NP_055635.3	O94826	TOM70_HUMAN	translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae)	408					protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane translocase complex	protein binding|protein transmembrane transporter activity			endometrium(11)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	32						ACTTACCTGTCCTCGGTGGTG	0.398000													11	63					0	0	1	0	0
CXCR2	3579	broad.mit.edu	37	2	218999652	218999652	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr2:218999652C>T	ENST00000318507.2	+	3	555	c.128C>T	c.(127-129)tCc>tTc	p.S43F		NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN	chemokine (C-X-C motif) receptor 2	43					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						GAACCAGAATCCCTGGAAATC	0.458000													33	110					0	0	1	0	0
UCK1	83549	broad.mit.edu	37	9	134406032	134406032	+	Missense_Mutation	SNP	A	A	C			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr9:134406032A>C	ENST00000372211.3	-	2	149	c.124T>G	c.(124-126)Tcg>Gcg	p.S42A	UCK1_ENST00000372210.3_Splice_Site_p.S28_splice|UCK1_ENST00000459858.1_5'UTR|UCK1_ENST00000372208.3_Splice_Site_p.S37_splice|UCK1_ENST00000372215.4_Splice_Site_p.S37_splice			Q9HA47	UCK1_HUMAN	uridine-cytidine kinase 1	37					pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;2.34e-05)|Epithelial(140;0.000219)		CACACGGTCGACTGGAGACAC	0.627000													46	55					0	0	1	0	0
POLR2A	5430	broad.mit.edu	37	17	7401001	7401001	+	Silent	SNP	C	C	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr17:7401001C>A	ENST00000322644.6	+	7	1413	c.1014C>A	c.(1012-1014)tcC>tcA	p.S338S	POLR2A_ENST00000572844.1_Silent_p.S338S	NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	338					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				CCCTCAAGTCCCTGAAGCAGC	0.602000													13	38					2.68362e-12	2.7026e-12	1	1	0
UGT1A1	54658	broad.mit.edu	37	2	234675725	234675725	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr2:234675725G>A	ENST00000360418.3	+	2	910	c.910G>A	c.(910-912)Gtt>Att	p.V304I	UGT1A3_ENST00000482026.1_Missense_Mutation_p.V305I|UGT1A1_ENST00000305208.5_Missense_Mutation_p.V304I|UGT1A9_ENST00000354728.4_Missense_Mutation_p.V301I|UGT1A6_ENST00000305139.6_Missense_Mutation_p.V303I|UGT1A5_ENST00000373414.3_Missense_Mutation_p.V305I|UGT1A10_ENST00000344644.5_Missense_Mutation_p.V301I|UGT1A8_ENST00000373450.4_Missense_Mutation_p.V301I|UGT1A4_ENST00000373409.3_Missense_Mutation_p.V305I|UGT1A6_ENST00000373424.1_Missense_Mutation_p.V36I|UGT1A10_ENST00000373445.1_Missense_Mutation_p.V301I|UGT1A6_ENST00000406651.1_Missense_Mutation_p.V36I|UGT1A7_ENST00000373426.3_Missense_Mutation_p.V301I			P22309	UD11_HUMAN		304					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	TGGAATTGTGGTTTTCTCTTT	0.363000													13	43					0	0	1	0	0
TCP11L2	255394	broad.mit.edu	37	12	106717347	106717347	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr12:106717347G>A	ENST00000546625.1	+	6	854	c.695G>A	c.(694-696)aGt>aAt	p.S232N	TCP11L2_ENST00000552690.1_3'UTR|TCP11L2_ENST00000299045.3_Missense_Mutation_p.S232N|TCP11L2_ENST00000547153.1_Missense_Mutation_p.S232N			Q8N4U5	T11L2_HUMAN	t-complex 11, testis-specific-like 2	232										endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2)	15						ACAATTATGAGTCTCAGACCG	0.353000													5	25					0	0	1	0	0
RBL2	5934	broad.mit.edu	37	16	53476711	53476711	+	Silent	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr16:53476711G>A	ENST00000262133.6	+	3	650	c.513G>A	c.(511-513)caG>caA	p.Q171Q		NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2 (p130)	171					cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CCATTTTTCAGGACATCTTTA	0.408000													15	34					0	0	1	0	0
PDGFRB	5159	broad.mit.edu	37	5	149497194	149497194	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr5:149497194G>A	ENST00000261799.4	-	22	3593	c.3124C>T	c.(3124-3126)Ccc>Tcc	p.P1042S		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	1042					aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	GCTAGGCTGGGGGAACCCTCC	0.617000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""								28	24					0	0	1	0	0
COL20A1	57642	broad.mit.edu	37	20	61959824	61959824	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr20:61959824G>A	ENST00000422202.1	+	33	3862	c.3794G>A	c.(3793-3795)cGt>cAt	p.R1265H	COL20A1_ENST00000358894.6_Missense_Mutation_p.R1252H|COL20A1_ENST00000435874.1_Missense_Mutation_p.R1265H|COL20A1_ENST00000326996.6_Missense_Mutation_p.R1284H			Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	1252					cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					GAATGGGGGCGTGGTGGCCGC	0.706000													11	37					0	0	1	0	0
OR5AC2	81050	broad.mit.edu	37	3	97806704	97806704	+	Nonsense_Mutation	SNP	A	A	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr3:97806704A>T	ENST00000358642.2	+	1	688	c.688A>T	c.(688-690)Aaa>Taa	p.K230*		NM_054106.1	NP_473447.1	Q9NZP5	O5AC2_HUMAN	olfactory receptor, family 5, subfamily AC, member 2	230					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						TATTCTGAAAAAAAAGTCTGA	0.383000													6	19					0	0	1	0	0
CNOT10	25904	broad.mit.edu	37	3	32757801	32757801	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr3:32757801C>T	ENST00000328834.5	+	6	974	c.658C>T	c.(658-660)Cag>Tag	p.Q220*	CNOT10_ENST00000331889.6_Nonsense_Mutation_p.Q220*|CNOT10_ENST00000463697.1_3'UTR|CNOT10_ENST00000454516.2_Nonsense_Mutation_p.Q280*|CNOT10_ENST00000538368.1_5'UTR	NM_015442.2	NP_056257.1	Q9H9A5	CNOTA_HUMAN	CCR4-NOT transcription complex, subunit 10	220					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(3)	23						AAAGATACATCAGGTAGTATA	0.328000													9	19					0	0	1	0	0
SLC14A2	8170	broad.mit.edu	37	18	43221223	43221223	+	Silent	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr18:43221223C>T	ENST00000255226.6	+	8	1857	c.1041C>T	c.(1039-1041)agC>agT	p.S347S	SLC14A2_ENST00000586448.1_Silent_p.S347S	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	347						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity	p.S347R(1)		NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GCCTCTGGAGCTACAACTGCG	0.552000													12	39					0	0	1	0	0
SH3BP4	23677	broad.mit.edu	37	2	235962300	235962300	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr2:235962300G>A	ENST00000409212.1	+	6	3239	c.2732G>A	c.(2731-2733)cGg>cAg	p.R911Q	SH3BP4_ENST00000392011.2_Missense_Mutation_p.R911Q|SH3BP4_ENST00000344528.4_Missense_Mutation_p.R911Q			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	911					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		GACAGCTACCGGGATGTCATC	0.547000													25	82					0	0	1	0	0
HHATL	57467	broad.mit.edu	37	3	42734629	42734629	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr3:42734629G>A	ENST00000441594.1	-	11	1591	c.1330C>T	c.(1330-1332)Ctt>Ttt	p.L444F	HHATL_ENST00000310417.5_Missense_Mutation_p.L444F	NM_020707.3	NP_065758.3	Q9HCP6	HHATL_HUMAN	hedgehog acyltransferase-like	444					negative regulation of N-terminal protein palmitoylation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3)	19				KIRC - Kidney renal clear cell carcinoma(284;0.215)		AGGCTCACAAGGTTGTACATG	0.582000													74	65					0	0	1	0	0
BMP4	652	broad.mit.edu	37	14	54417129	54417129	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr14:54417129G>A	ENST00000245451.4	-	4	1241	c.848C>T	c.(847-849)gCc>gTc	p.A283V	BMP4_ENST00000558984.1_Missense_Mutation_p.A283V|BMP4_ENST00000417573.1_Missense_Mutation_p.A283V|BMP4_ENST00000559087.1_Missense_Mutation_p.A283V	NM_001202.3	NP_001193.2	P12644	BMP4_HUMAN	bone morphogenetic protein 4	283					activation of MAPKK activity|blood vessel endothelial cell proliferation involved in sprouting angiogenesis|BMP signaling pathway involved in heart induction|BMP signaling pathway involved in nephric duct formation|branching involved in ureteric bud morphogenesis|bronchus development|bud dilation involved in lung branching|cardiac septum development|cartilage development|endocardial cushion development|epithelial cell proliferation involved in lung morphogenesis|intermediate mesodermal cell differentiation|lung alveolus development|lymphoid progenitor cell differentiation|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway|negative regulation of branching involved in ureteric bud morphogenesis|negative regulation of cell proliferation involved in heart morphogenesis|negative regulation of glomerular mesangial cell proliferation|negative regulation of glomerulus development|negative regulation of immature T cell proliferation in thymus|negative regulation of MAP kinase activity|negative regulation of metanephric comma-shaped body morphogenesis|negative regulation of metanephric S-shaped body morphogenesis|negative regulation of mitosis|negative regulation of myoblast differentiation|negative regulation of phosphorylation|negative regulation of striated muscle tissue development|negative regulation of thymocyte apoptosis|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cardiac muscle fiber development|positive regulation of cartilage development|positive regulation of collagen biosynthetic process|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of kidney development|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|protein localization to nucleus|pulmonary artery endothelial tube morphogenesis|secondary heart field specification|SMAD protein signal transduction|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway|steroid hormone mediated signaling pathway	extracellular space|proteinaceous extracellular matrix	BMP receptor binding|chemoattractant activity|cytokine activity|growth factor activity			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1)	19						TCGGGTCAAGGCATGGCCCCG	0.617000													15	69					0	0	1	0	0
RASD2	23551	broad.mit.edu	37	22	35947564	35947564	+	Silent	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr22:35947564C>T	ENST00000216127.4	+	3	928	c.286C>T	c.(286-288)Ctg>Ttg	p.L96L		NM_014310.3	NP_055125.2	Q96D21	RHES_HUMAN	RASD family, member 2	96					locomotory behavior|positive regulation of protein kinase B signaling cascade|positive regulation of protein sumoylation|regulation of cAMP-mediated signaling	intracellular|plasma membrane	G-protein beta-subunit binding|GTP binding|GTPase activity			endometrium(2)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	13						TGTCTTCATCCTGGTGTTCAG	0.577000													56	60					0	0	1	0	0
IGSF9	57549	broad.mit.edu	37	1	159901688	159901688	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:159901688C>T	ENST00000368094.1	-	11	1473	c.1276G>A	c.(1276-1278)Gaa>Aaa	p.E426K	IGSF9_ENST00000493195.1_5'UTR|IGSF9_ENST00000361509.3_Missense_Mutation_p.E410K	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	426	Ig-like 5.					cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			AAATATTCTTCCTTGGGCCGC	0.577000													16	49					0	0	1	0	0
MAPT	4137	broad.mit.edu	37	17	44049230	44049230	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr17:44049230C>T	ENST00000344290.5	+	3	461	c.139C>T	c.(139-141)Ccc>Tcc	p.P47S	MAPT_ENST00000420682.2_Missense_Mutation_p.P47S|MAPT_ENST00000262410.5_Missense_Mutation_p.P47S|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000347967.5_5'UTR|MAPT_ENST00000535772.1_Missense_Mutation_p.P47S|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000431008.3_Missense_Mutation_p.P47S|MAPT_ENST00000415613.2_Missense_Mutation_p.P47S|MAPT_ENST00000340799.5_Missense_Mutation_p.P47S|MAPT_ENST00000574436.1_Missense_Mutation_p.P47S|MAPT_ENST00000571987.1_Missense_Mutation_p.P47S|MAPT_ENST00000351559.5_Missense_Mutation_p.P47S|MAPT_ENST00000334239.8_Intron	NM_001123066.3	NP_001116538.2	P10636	TAU_HUMAN	microtubule-associated protein tau	47					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)				TCCAGAATCTCCCCTGCAGAC	0.602000													12	28					0	0	1	0	0
TRIM49	57093	broad.mit.edu	37	11	89531747	89531747	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr11:89531747C>T	ENST00000329758.1	-	8	1238	c.910G>A	c.(910-912)Gaa>Aaa	p.E304K	TRIM49_ENST00000532501.2_Missense_Mutation_p.E227K	NM_020358.2	NP_065091.1	P0CI25	TRI49_HUMAN	tripartite motif containing 49	304	B30.2/SPRY.					intracellular	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1)	27		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				CTCAAAATTTCATACAGAAAG	0.348000													7	23					0	0	1	0	0
HIST1H1B	3009	broad.mit.edu	37	6	27834901	27834901	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr6:27834901C>T	ENST00000331442.3	-	1	458	c.407G>A	c.(406-408)gGg>gAg	p.G136E		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	136					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						AGGCGTGGCCCCCGCGGGCTT	0.602000													71	153					0	0	1	0	0
FAM71A	149647	broad.mit.edu	37	1	212799401	212799401	+	Silent	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:212799401C>T	ENST00000294829.3	+	1	1613	c.1182C>T	c.(1180-1182)ccC>ccT	p.P394P	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	394										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		CGGGACCTCCCGTCTCCACCC	0.627000													8	43					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196891489	196891489	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr2:196891489G>A	ENST00000312428.6	-	7	762	c.662C>T	c.(661-663)tCc>tTc	p.S221F	DNAH7_ENST00000410072.1_Missense_Mutation_p.S221F	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	221	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTTACCTATGGATTTCCTTAC	0.294000													3	10					0	0	1	0	0
SERPINB4	6318	broad.mit.edu	37	18	61309103	61309103	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr18:61309103A>G	ENST00000341074.5	-	4	357	c.242T>C	c.(241-243)gTt>gCt	p.V81A	SERPINB4_ENST00000356424.6_Missense_Mutation_p.V81A	NM_002974.2	NP_002965.1			serpin peptidase inhibitor, clade B (ovalbumin), member 4											breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						CTGGTGATGAACATTTCCTGA	0.383000													23	46					0	0	1	0	0
FRMD1	79981	broad.mit.edu	37	6	168462535	168462535	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr6:168462535G>A	ENST00000283309.6	-	8	1061	c.997C>T	c.(997-999)Cgc>Tgc	p.R333C	FRMD1_ENST00000432403.1_5'UTR|FRMD1_ENST00000537786.1_Missense_Mutation_p.R104C|FRMD1_ENST00000440994.2_Missense_Mutation_p.R265C	NM_024919.3	NP_079195.3	Q8N878	FRMD1_HUMAN	FERM domain containing 1	333	FERM.					cytoskeleton	binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		GGCCGCACGCGGAGGTGGAGC	0.697000													4	10					0	0	1	0	0
INSM1	3642	broad.mit.edu	37	20	20350123	20350123	+	Silent	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr20:20350123C>T	ENST00000310227.1	+	1	1359	c.1212C>T	c.(1210-1212)gcC>gcT	p.A404A		NM_002196.2	NP_002187.1	Q01101	INSM1_HUMAN	insulinoma-associated 1	404					endocrine pancreas development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			liver(1)|lung(3)|ovary(1)|prostate(1)	6				READ - Rectum adenocarcinoma(2;0.0649)		CGCCCCCGGCCGAGGACCTAC	0.751000													7	15					0	0	1	0	0
TRAF5	7188	broad.mit.edu	37	1	211538796	211538796	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:211538796C>T	ENST00000261464.5	+	8	829	c.775C>T	c.(775-777)Caa>Taa	p.Q259*	TRAF5_ENST00000427925.2_Nonsense_Mutation_p.Q153*|TRAF5_ENST00000367004.3_Nonsense_Mutation_p.Q259*|TRAF5_ENST00000462410.1_3'UTR|TRAF5_ENST00000336184.2_Nonsense_Mutation_p.Q259*	NM_001033910.2	NP_001029082.1	O00463	TRAF5_HUMAN	TNF receptor-associated factor 5	259					apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis	CD40 receptor complex|centrosome|internal side of plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144)		AAAGAATGTCCAATTAGAAGA	0.388000													6	14					0	0	1	0	0
DSG4	147409	broad.mit.edu	37	18	28971154	28971154	+	Silent	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr18:28971154C>T	ENST00000359747.4	+	7	827	c.798C>T	c.(796-798)ttC>ttT	p.F266F	RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000308128.4_Silent_p.F266F|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	266	Cadherin 2.		Missing (in LAH1).		homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			ACGATAATTTCCCCACCTTAG	0.393000													8	30					0	0	1	0	0
SPN	6693	broad.mit.edu	37	16	29675161	29675161	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr16:29675161G>A	ENST00000360121.3	+	2	204	c.112G>A	c.(112-114)Gag>Aag	p.E38K	AC009133.19_ENST00000449759.1_Intron|SPN_ENST00000395389.2_Missense_Mutation_p.E38K	NM_001030288.2|NM_003123.4	NP_001025459.1|NP_003114.1	P16150	LEUK_HUMAN	sialophorin	38					blood coagulation|cellular defense response|chemotaxis|defense response to bacterium|establishment or maintenance of cell polarity|immune response|leukocyte migration|negative regulation of cell adhesion|positive regulation of tumor necrosis factor biosynthetic process	extracellular space|integral to plasma membrane	bacterial cell surface binding|transmembrane receptor activity			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|stomach(1)	15						CTCTACTAGCGAGCCCCTGAG	0.572000													46	80					0	0	1	0	0
PCDHB7	56129	broad.mit.edu	37	5	140553895	140553895	+	Silent	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr5:140553895C>T	ENST00000231137.3	+	1	1653	c.1479C>T	c.(1477-1479)tcC>tcT	p.S493S		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		493	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCTGCCGTCCCAGGACCCGC	0.667000													102	101					0	0	1	0	0
ZSCAN5B	342933	broad.mit.edu	37	19	56704366	56704366	+	Missense_Mutation	SNP	C	C	T	rs80228467	by1000genomes	TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr19:56704366C>T	ENST00000586855.2	-	2	369	c.56G>A	c.(55-57)gGg>gAg	p.G19E	ZSCAN5B_ENST00000358992.3_Missense_Mutation_p.G19E			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	19					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						AGTGTCTGACCCAGGGCTGTT	0.517000													7	2					0	0	1	0	0
CNOT1	23019	broad.mit.edu	37	16	58609005	58609005	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr16:58609005G>A	ENST00000317147.5	-	15	2065	c.1733C>T	c.(1732-1734)cCa>cTa	p.P578L	CNOT1_ENST00000569240.1_Missense_Mutation_p.P578L|CNOT1_ENST00000441024.2_Missense_Mutation_p.P578L	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	578					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		AAAGGCAAATGGAGTACCATT	0.403000													39	38					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110530420	110530420	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr8:110530420C>T	ENST00000378402.5	+	73	11818	c.11714C>T	c.(11713-11715)tCc>tTc	p.S3905F		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3905					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AACCTGGATTCCACTGTCCTT	0.363000										HNSCC(38;0.096)			4	18					0	0	1	0	0
PNMT	5409	broad.mit.edu	37	17	37825953	37825953	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr17:37825953A>G	ENST00000269582.2	+	2	592	c.274A>G	c.(274-276)Agc>Ggc	p.S92G	PNMT_ENST00000394246.1_5'UTR|PNMT_ENST00000581428.1_Missense_Mutation_p.S92G	NM_002686.3	NP_002677.1	P11086	PNMT_HUMAN	phenylethanolamine N-methyltransferase	92					catecholamine biosynthetic process|hormone biosynthetic process	cytosol	phenylethanolamine N-methyltransferase activity			NS(1)|breast(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8	all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CAGTGCCTGCAGCCACTTTGA	0.627000													21	47					0	0	1	0	0
ACVR1C	130399	broad.mit.edu	37	2	158395120	158395120	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr2:158395120G>A	ENST00000243349.7	-	8	1681	c.1321C>T	c.(1321-1323)Cga>Tga	p.R441*	ACVR1C_ENST00000409680.3_Nonsense_Mutation_p.R391*|ACVR1C_ENST00000335450.7_Nonsense_Mutation_p.R361*|ACVR1C_ENST00000348328.5_Nonsense_Mutation_p.R284*	NM_145259.2	NP_660302.2	Q8NER5	ACV1C_HUMAN	activin A receptor, type IC	441	Protein kinase.				apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						ATACTTGGTCGAAACTTCTGG	0.388000													8	41					0	0	1	0	0
ACE	1636	broad.mit.edu	37	17	61571326	61571326	+	Silent	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr17:61571326C>T	ENST00000577647.1	+	10	1503	c.1458C>T	c.(1456-1458)atC>atT	p.I486I	ACE_ENST00000290863.6_Silent_p.I486I|ACE_ENST00000290866.4_Silent_p.I1060I|ACE_ENST00000421982.2_Silent_p.I306I|ACE_ENST00000413513.3_Silent_p.I486I|ACE_ENST00000490216.2_Silent_p.I486I|ACE_ENST00000428043.1_Silent_p.I1060I			P12821	ACE_HUMAN	angiotensin I converting enzyme	1060	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)	TTGACAAGATCGCCTTTATCC	0.547000													15	50					0	0	1	0	0
ZNF569	148266	broad.mit.edu	37	19	37935844	37935844	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr19:37935844G>A	ENST00000589833.1	-	2	264	c.52C>T	c.(52-54)Cct>Tct	p.P18S	ZNF569_ENST00000592490.1_5'UTR|ZNF569_ENST00000392149.2_5'UTR|ZNF569_ENST00000316950.6_5'UTR|ZNF569_ENST00000591073.1_5'UTR|ZNF569_ENST00000392150.2_5'UTR			Q5MCW4	ZN569_HUMAN	zinc finger protein 569	0	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTCTGGGAAGGGATGGGGCCT	0.418000													15	22					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77764874	77764874	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr8:77764874G>A	ENST00000521891.2	+	10	6165	c.5717G>A	c.(5716-5718)gGa>gAa	p.G1906E	ZFHX4_ENST00000455469.2_Missense_Mutation_p.G1861E|ZFHX4_ENST00000050961.6_Missense_Mutation_p.G1861E|ZFHX4_ENST00000518282.1_Missense_Mutation_p.G1880E	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1861						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GGGGCCAGAGGAAATGCTGCC	0.443000										HNSCC(33;0.089)			7	16					0	0	1	0	0
FOSL2	2355	broad.mit.edu	37	2	28635284	28635284	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr2:28635284C>T	ENST00000264716.4	+	4	1813	c.950C>T	c.(949-951)tCc>tTc	p.S317F	FOSL2_ENST00000545753.1_Missense_Mutation_p.S278F|FOSL2_ENST00000379619.1_Missense_Mutation_p.S309F	NM_005253.3	NP_005244.1	P15408	FOSL2_HUMAN	FOS-like antigen 2	317					cell death|regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)					TCATCAGACTCCTTGAACTCC	0.627000													6	42					0	0	1	0	0
DENND5A	23258	broad.mit.edu	37	11	9167357	9167357	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr11:9167357G>A	ENST00000328194.3	-	17	3183	c.2863C>T	c.(2863-2865)Ccg>Tcg	p.P955S	DENND5A_ENST00000527700.1_Missense_Mutation_p.P298S|DENND5A_ENST00000530044.1_Missense_Mutation_p.P955S	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	955	PLAT.									breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						ATGTGGTACGGGATCACTGTT	0.493000													41	141					0	0	1	0	0
PDGFRB	5159	broad.mit.edu	37	5	149497193	149497193	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr5:149497193G>A	ENST00000261799.4	-	22	3594	c.3125C>T	c.(3124-3126)cCc>cTc	p.P1042L		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	1042					aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	GGCTAGGCTGGGGGAACCCTC	0.617000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""								27	24					0	0	1	0	0
ALPL	249	broad.mit.edu	37	1	21889741	21889741	+	Missense_Mutation	SNP	G	G	A	rs138587317		TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:21889741G>A	ENST00000374840.3	+	5	686	c.436G>A	c.(436-438)Gag>Aag	p.E146K	ALPL_ENST00000374832.1_Missense_Mutation_p.E146K|ALPL_ENST00000539907.1_Missense_Mutation_p.E69K|ALPL_ENST00000540617.1_Missense_Mutation_p.E91K|ALPL_ENST00000468526.1_3'UTR|ALPL_ENST00000425315.2_Missense_Mutation_p.E146K	NM_000478.4	NP_000469.3	P05186	PPBT_HUMAN	alkaline phosphatase, liver/bone/kidney	146					response to vitamin D|skeletal system development	anchored to membrane|cytoplasm|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	p.E146K(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	26		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)	CCAGGGGAACGAGGTCACCTC	0.667000													13	33					0	0	1	0	0
OR5D13	390142	broad.mit.edu	37	11	55541605	55541605	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr11:55541605G>A	ENST00000361760.1	+	1	692	c.692G>A	c.(691-693)cGa>cAa	p.R231Q		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	231					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R231Q(3)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				ATGAAGATGCGATCTGCAAGT	0.423000													16	54					0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30700585	30700585	+	Silent	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr8:30700585G>A	ENST00000256246.2	-	1	6023	c.5949C>T	c.(5947-5949)caC>caT	p.H1983H		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1983										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AAATATCTGGGTGTGCAAGCA	0.338000													13	13					0	0	1	0	0
EPHA6	285220	broad.mit.edu	37	3	97311499	97311499	+	Silent	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr3:97311499C>T	ENST00000389672.5	+	12	2468	c.2430C>T	c.(2428-2430)ttC>ttT	p.F810F	EPHA6_ENST00000442602.2_Silent_p.F176F|EPHA6_ENST00000502694.1_Silent_p.F202F|EPHA6_ENST00000514100.1_Silent_p.F202F	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	715	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						GCCCCAGCTTCCTGAGGGCAG	0.488000													5	48					0	0	1	0	0
PSMC3IP	29893	broad.mit.edu	37	17	40729482	40729482	+	Silent	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr17:40729482C>T	ENST00000393795.3	-	2	240	c.132G>A	c.(130-132)aaG>aaA	p.K44K	PSMC3IP_ENST00000587209.1_5'UTR|PSMC3IP_ENST00000253789.5_Silent_p.K44K|PSMC3IP_ENST00000590760.1_5'UTR	NM_001256015.1|NM_001256016.1|NM_016556.3	NP_001242944.1|NP_001242945.1|NP_057640.1	Q9P2W1	HOP2_HUMAN	PSMC3 interacting protein	44					DNA recombination|meiosis	nucleus	DNA binding			endometrium(2)|large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(2)	7		all_cancers(22;0.00426)|Breast(137;0.00116)|all_epithelial(22;0.0395)		BRCA - Breast invasive adenocarcinoma(366;0.13)		TCCTCACCGCCTTGCCCAGTC	0.632000													4	22					0	0	1	0	0
GALR1	2587	broad.mit.edu	37	18	74980632	74980632	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr18:74980632T>C	ENST00000299727.3	+	3	824	c.824T>C	c.(823-825)tTc>tCc	p.F275S		NM_001480.3	NP_001471.2	P47211	GALR1_HUMAN	galanin receptor 1	275					digestion|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)		TTTGGAGTTTTCCCGCTGACG	0.517000													23	74					0	0	1	0	0
WT1	7490	broad.mit.edu	37	11	32421568	32421568	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr11:32421568C>T	ENST00000332351.3	-	6	1308	c.1024G>A	c.(1024-1026)Gat>Aat	p.D342N	WT1_ENST00000530998.1_Missense_Mutation_p.D113N|WT1_ENST00000448076.3_Missense_Mutation_p.D342N|WT1_ENST00000379079.2_Missense_Mutation_p.D130N	NM_024424.3|NM_024426.4	NP_077742.2|NP_077744.3	P19544	WT1_HUMAN	Wilms tumor 1	274			M -> R (in DDS).		adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding		EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			GTGTGGTTATCGCTCTCGTAC	0.542000			"""D, Mis, N, F, S"""	EWSR1	"""Wilms, desmoplastic small round cell tumor"""	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome				12	17					0	0	1	0	0
TGM1	7051	broad.mit.edu	37	14	24729862	24729862	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr14:24729862G>T	ENST00000206765.6	-	4	674	c.551C>A	c.(550-552)cCa>cAa	p.P184Q	TGM1_ENST00000544573.1_Intron	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	184					cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	CTTGCCCACTGGGATGATCAC	0.607000													20	96					2.39187e-15	2.41562e-15	1	1	0
MGLL	11343	broad.mit.edu	37	3	127413947	127413947	+	Silent	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr3:127413947C>T	ENST00000434178.2	-	7	1553	c.657G>A	c.(655-657)cgG>cgA	p.R219R	MGLL_ENST00000265052.5_Silent_p.R229R|MGLL_ENST00000398104.1_Silent_p.R219R|MGLL_ENST00000398101.3_Silent_p.R193R|MGLL_ENST00000476682.1_5'UTR|MGLL_ENST00000453507.2_Silent_p.R199R			Q99685	MGLL_HUMAN	monoglyceride lipase	219					arachidonic acid metabolic process|fatty acid biosynthetic process|inflammatory response|platelet activation|regulation of endocannabinoid signaling pathway|regulation of inflammatory response|regulation of sensory perception of pain|triglyceride catabolic process	plasma membrane	acylglycerol lipase activity|carboxylesterase activity|lysophospholipase activity|protein homodimerization activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6						CGCGCTCCACCCGTGAGACGG	0.607000													16	79					0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10258027	10258027	+	Silent	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr17:10258027G>A	ENST00000418404.3	-	10	1138	c.975C>T	c.(973-975)atC>atT	p.I325I	MYH13_ENST00000570743.1_Silent_p.I325I|MYH13_ENST00000252172.4_Silent_p.I325I			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	325	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CACTGTCATCGATACTGGCTA	0.453000													16	32					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138330037	138330037	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr2:138330037G>A	ENST00000409968.1	+	17	3512	c.3334G>A	c.(3334-3336)Gaa>Aaa	p.E1112K	THSD7B_ENST00000272643.3_Missense_Mutation_p.E1115K|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.E1084K					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CAACCAGGATGAAATTCCCCC	0.448000													4	19					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20975062	20975062	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr16:20975062T>G	ENST00000261383.3	-	53	10143	c.10144A>C	c.(10144-10146)Atg>Ctg	p.M3382L	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3382					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TTCTGTTTCATGATGCCGATG	0.502000													11	55					0	0	1	0	0
HEPACAM2	253012	broad.mit.edu	37	7	92848776	92848776	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr7:92848776G>A	ENST00000341723.4	-	1	119	c.32C>T	c.(31-33)tCc>tTc	p.S11F	HEPACAM2_ENST00000440868.1_Missense_Mutation_p.S11F|HEPACAM2_ENST00000453812.2_Intron|HEPACAM2_ENST00000394468.2_Intron	NM_198151.1	NP_937794.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	0						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						TGTTGCAAAGGAAAGGAAAGT	0.507000													37	31					0	0	1	0	0
SPANXN5	494197	broad.mit.edu	37	X	52826385	52826385	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chrX:52826385C>T	ENST00000375511.3	-	1	756	c.4G>A	c.(4-6)Gaa>Aaa	p.E2K		NM_001009616.2	NP_001009616.1	Q5MJ07	SPXN5_HUMAN	SPANX family, member N5	2										large_intestine(1)|lung(5)|skin(2)	8	Ovarian(276;0.236)					GTGGGCTTTTCCATGATTCTG	0.478000													34	35					0	0	1	0	0
C2CD3	26005	broad.mit.edu	37	11	73785298	73785298	+	Splice_Site	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr11:73785298C>T	ENST00000334126.7	-	24	5177	c.4951_splice	c.e24+1	p.G1651_splice	C2CD3_ENST00000313663.7_Splice_Site_p.G1651_splice			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1651	C2 2.					centrosome				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)					GAGAGCATACCTTTCAAGCTC	0.483000													7	33					0	0	1	0	0
XPR1	9213	broad.mit.edu	37	1	180651525	180651525	+	Missense_Mutation	SNP	G	G	T	rs150022313		TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:180651525G>T	ENST00000367590.4	+	2	297	c.99G>T	c.(97-99)caG>caT	p.Q33H	XPR1_ENST00000367589.3_Missense_Mutation_p.Q33H	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	33	SPX.					integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						ATTCAGCTCAGGACCAGGCAC	0.333000													8	32					3.09899e-07	3.11649e-07	1	1	0
CTBS	1486	broad.mit.edu	37	1	85031635	85031635	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:85031635C>T	ENST00000370630.4	-	4	634	c.586G>A	c.(586-588)Gga>Aga	p.G196R	CTBS_ENST00000477677.1_5'UTR	NM_004388.2	NP_004379.1	Q01459	DIAC_HUMAN	chitobiase, di-N-acetyl-	196						lysosome	cation binding			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	9				all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166)		TCTGCGATTCCAGTATAATTA	0.368000													4	14					0	0	1	0	0
CAMK2B	816	broad.mit.edu	37	7	44302605	44302605	+	Splice_Site	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr7:44302605G>A	ENST00000395749.2	-	3	295	c.220_splice	c.e3+1	p.I73_splice	CAMK2B_ENST00000258682.6_Splice_Site_p.I73_splice|CAMK2B_ENST00000347193.4_Splice_Site_p.I73_splice|CAMK2B_ENST00000353625.4_Splice_Site_p.I73_splice|CAMK2B_ENST00000457475.1_Splice_Site_p.I73_splice|CAMK2B_ENST00000395747.2_Splice_Site_p.I73_splice|CAMK2B_ENST00000502837.2_5'UTR|CAMK2B_ENST00000440254.2_Splice_Site_p.I73_splice|CAMK2B_ENST00000346990.4_Splice_Site_p.I73_splice|CAMK2B_ENST00000350811.3_Splice_Site_p.I73_splice|CAMK2B_ENST00000358707.3_Splice_Site_p.I73_splice	NM_001220.4	NP_001211.3	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II beta	73	Protein kinase.				interferon-gamma-mediated signaling pathway|synaptic transmission	cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						GCTGCTCACCGATGTTGGAAT	0.577000													32	42					0	0	1	0	0
AOC3	8639	broad.mit.edu	37	17	41004296	41004296	+	Silent	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr17:41004296C>T	ENST00000308423.2	+	1	1096	c.936C>T	c.(934-936)ccC>ccT	p.P312P		NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	312					amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	GTCCAGCTCCCCCTCTACAGT	0.617000													6	32					0	0	1	0	0
PPHLN1	51535	broad.mit.edu	37	12	42778790	42778790	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr12:42778790C>T	ENST00000432191.2	+	5	467	c.395C>T	c.(394-396)cCt>cTt	p.P132L	PPHLN1_ENST00000549190.1_Missense_Mutation_p.P205L|PPHLN1_ENST00000256678.8_Intron|PPHLN1_ENST00000449194.2_Intron|PPHLN1_ENST00000552761.1_Missense_Mutation_p.P139L|PPHLN1_ENST00000395568.2_Missense_Mutation_p.P187L|PPHLN1_ENST00000358314.7_Missense_Mutation_p.P187L|PPHLN1_ENST00000395580.3_Missense_Mutation_p.P194L|PPHLN1_ENST00000317560.9_Intron|PPHLN1_ENST00000337898.6_Missense_Mutation_p.P132L	NM_001143787.1	NP_001137259.1	Q8NEY8	PPHLN_HUMAN	periphilin 1	187					keratinization	cytoplasm|nucleus				breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	16	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0875)		GAAGGAAATCCTGAAAGAGGT	0.493000													18	29					0	0	1	0	0
ANO2	57101	broad.mit.edu	37	12	6030365	6030365	+	Silent	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr12:6030365G>A	ENST00000356134.5	-	3	434	c.363C>T	c.(361-363)atC>atT	p.I121I	ANO2_ENST00000546188.1_Silent_p.I121I|ANO2_ENST00000327087.8_Silent_p.I121I	NM_001278596.1|NM_001278597.1	NP_001265525.1|NP_001265526.1	Q9NQ90	ANO2_HUMAN	anoctamin 2	125						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						CATTGGAGACGATAGCCAGCG	0.617000													9	25					0	0	1	0	0
NYNRIN	57523	broad.mit.edu	37	14	24877086	24877086	+	Silent	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr14:24877086G>A	ENST00000382554.3	+	3	528	c.210G>A	c.(208-210)aaG>aaA	p.K70K		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	70					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						AATACCTGAAGGGCCTGTGCA	0.622000													42	63					0	0	1	0	0
ZCCHC5	203430	broad.mit.edu	37	X	77912994	77912994	+	Silent	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chrX:77912994G>A	ENST00000321110.1	-	2	1219	c.924C>T	c.(922-924)ttC>ttT	p.F308F		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	308							nucleic acid binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						GCACAGGTATGAAACTTTCAC	0.478000													7	4					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62299443	62299443	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr11:62299443G>A	ENST00000378024.4	-	5	2720	c.2446C>T	c.(2446-2448)Ccc>Tcc	p.P816S	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	816					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GAGATCTTGGGGACTTTGATG	0.438000													39	205					0	0	1	0	0
OR5F1	338674	broad.mit.edu	37	11	55761181	55761181	+	Silent	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr11:55761181C>T	ENST00000278409.1	-	1	920	c.921G>A	c.(919-921)agG>agA	p.R307R		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					AGGTCCTTTTCCTGCTAATTA	0.358000													6	24					0	0	1	0	0
TRPV6	55503	broad.mit.edu	37	7	142575489	142575489	+	Silent	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr7:142575489G>A	ENST00000359396.3	-	3	509	c.264C>T	c.(262-264)ctC>ctT	p.L88L	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	88					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					GGTTGTCATAGAGGGCTGCTA	0.577000													65	106					0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79461540	79461540	+	Silent	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr9:79461540C>T	ENST00000376718.3	-	4	522	c.399G>A	c.(397-399)caG>caA	p.Q133Q	PRUNE2_ENST00000376713.3_Silent_p.Q133Q|PRUNE2_ENST00000428286.1_5'UTR	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	133					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TGGCATCGCTCTGCTCAACCG	0.478000													21	23					0	0	1	0	0
DPYSL2	1808	broad.mit.edu	37	8	26481725	26481725	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr8:26481725C>T	ENST00000311151.5	+	4	792	c.380C>T	c.(379-381)gCc>gTc	p.A127V	DPYSL2_ENST00000521913.1_Missense_Mutation_p.A91V|DPYSL2_ENST00000523027.1_Missense_Mutation_p.A91V	NM_001386.5	NP_001377.1	Q16555	DPYL2_HUMAN	dihydropyrimidinase-like 2	127					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	dihydropyrimidinase activity|protein binding			breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)		AGGGAATGGGCCGACAGCAAG	0.527000													34	52					0	0	1	0	0
SLC4A2	6522	broad.mit.edu	37	7	150769181	150769181	+	Silent	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr7:150769181C>T	ENST00000485713.1	+	16	3533	c.2493C>T	c.(2491-2493)atC>atT	p.I831I	SLC4A2_ENST00000413384.2_Silent_p.I831I|SLC4A2_ENST00000461735.1_Silent_p.I817I|SLC4A2_ENST00000392826.2_Silent_p.I822I|SLC4A2_ENST00000310317.5_Silent_p.I749I	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	831	Membrane (anion exchange).				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCTTCTTGATCTCACTCATCT	0.622000													65	165					0	0	1	0	0
SMYD5	10322	broad.mit.edu	37	2	73450210	73450210	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr2:73450210C>T	ENST00000389501.4	+	8	797	c.752C>T	c.(751-753)aCc>aTc	p.T251I		NM_006062.2	NP_006053.2	Q6GMV2	SMYD5_HUMAN	SMYD family member 5	251	SET.						metal ion binding			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						CTTGTTGGGACCAATGGCCAA	0.488000													33	109					0	0	1	0	0
NFIA	4774	broad.mit.edu	37	1	61848985	61848985	+	Silent	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:61848985C>T	ENST00000403491.3	+	7	1507	c.1023C>T	c.(1021-1023)tcC>tcT	p.S341S	NFIA_ENST00000485903.2_Intron|NFIA_ENST00000479364.1_3'UTR|NFIA_ENST00000407417.3_Silent_p.S333S|NFIA_ENST00000371184.2_Silent_p.S212S|NFIA_ENST00000371185.2_Silent_p.S319S|NFIA_ENST00000371187.3_Silent_p.S341S|NFIA_ENST00000371189.4_Silent_p.S386S|NFIA_ENST00000371191.1_Silent_p.S364S	NM_001134673.3|NM_005595.4	NP_001128145.1|NP_005586.1	Q12857	NFIA_HUMAN	nuclear factor I/A	341					DNA replication|viral genome replication	cell junction|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding		NFIA/EHF(2)	endometrium(1)|kidney(2)|large_intestine(8)|lung(20)|pancreas(1)|prostate(1)|skin(1)	34						AGACCTCCTCCCTGGGAACGG	0.542000													35	139					0	0	1	0	0
ABI3BP	25890	broad.mit.edu	37	3	100605139	100605139	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr3:100605139C>T	ENST00000471714.1	-	5	620	c.511G>A	c.(511-513)Gat>Aat	p.D171N	ABI3BP_ENST00000284322.5_Missense_Mutation_p.D171N|ABI3BP_ENST00000495063.1_Missense_Mutation_p.D171N			Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	171	Fibronectin type-III 1.					extracellular space				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						TTTTCTTTATCCTTTTCTCGA	0.318000													6	9					0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121357791	121357791	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr8:121357791C>T	ENST00000297848.3	+	45	5336	c.5066C>T	c.(5065-5067)cCa>cTa	p.P1689L	COL14A1_ENST00000247781.3_Missense_Mutation_p.P1594L|COL14A1_ENST00000309791.4_Missense_Mutation_p.P1689L	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	1689	Triple-helical region 2 (COL1).				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CCAGGGACCCCAGGAGAACGA	0.592000													3	22					0	0	1	0	0
TACR2	6865	broad.mit.edu	37	10	71174726	71174726	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr10:71174726C>T	ENST00000373306.4	-	2	1105	c.562G>A	c.(562-564)Gac>Aac	p.D188N		NM_001057.2	NP_001048.2	P21452	NK2R_HUMAN	tachykinin receptor 2	188					excretion|muscle contraction	integral to plasma membrane	tachykinin receptor activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	11					Clonidine(DB00575)|Octreotide(DB00104)	CCCCCGCTGTCTTCGGGCCAG	0.627000													61	80					0	0	1	0	0
ATP13A5	344905	broad.mit.edu	37	3	193028470	193028470	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr3:193028470G>A	ENST00000342358.4	-	21	2599	c.2482C>T	c.(2482-2484)Cct>Tct	p.P828S	ATP13A5-AS1_ENST00000414634.1_RNA|ATP13A5_ENST00000495496.1_5'UTR	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	828					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|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;0.000307)		TTCTGCCCAGGAGACATTCTT	0.343000													21	43					0	0	1	0	0
MCF2L2	23101	broad.mit.edu	37	3	183056697	183056697	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr3:183056697G>A	ENST00000328913.3	-	5	674	c.377C>T	c.(376-378)cCa>cTa	p.P126L	MCF2L2_ENST00000447025.2_Missense_Mutation_p.P126L|MCF2L2_ENST00000414362.2_Missense_Mutation_p.P126L|MCF2L2_ENST00000473233.1_Missense_Mutation_p.P126L	NM_015078.2	NP_055893.2	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	126	CRAL-TRIO.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			TAAGTTTCCTGGAAATGCCAC	0.423000													12	33					0	0	1	0	0
PHKB	5257	broad.mit.edu	37	16	47495300	47495300	+	Nonsense_Mutation	SNP	G	G	A	rs141733590	byFrequency	TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr16:47495300G>A	ENST00000299167.8	+	1	64	c.39G>A	c.(37-39)tgG>tgA	p.W13*	PHKB_ENST00000566044.1_5'UTR|PHKB_ENST00000455779.1_5'UTR|PHKB_ENST00000567402.1_3'UTR|PHKB_ENST00000323584.5_Nonsense_Mutation_p.W13*			Q93100	KPBB_HUMAN	phosphorylase kinase, beta	13	Calmodulin-binding (Potential).				glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				AAGTGAGCTGGAAGGTCTTGG	0.721000													8	28					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13777373	13777373	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr5:13777373C>T	ENST00000265104.4	-	54	9147	c.9043G>A	c.(9043-9045)Gac>Aac	p.D3015N		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3015	AAA 4 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.D3015fs*12(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ATCTCATTGTCTGTGAAAATA	0.343000									Kartagener syndrome				15	14					0	0	1	0	0
AHDC1	27245	broad.mit.edu	37	1	27875805	27875805	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:27875805G>A	ENST00000374011.2	-	6	3790	c.2822C>T	c.(2821-2823)gCc>gTc	p.A941V	AHDC1_ENST00000482400.2_Intron|AHDC1_ENST00000247087.5_Missense_Mutation_p.A941V	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	941							DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		GAAGGTCTCGGCTGCCCGGCA	0.672000													27	77					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152506890	152506890	+	Silent	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr2:152506890G>A	ENST00000397345.3	-	54	7433	c.7231C>T	c.(7231-7233)Cta>Tta	p.L2411L	NEB_ENST00000603639.1_Silent_p.L2411L|NEB_ENST00000172853.10_Silent_p.L2411L|NEB_ENST00000604864.1_Silent_p.L2411L|NEB_ENST00000427231.2_Silent_p.L2411L|NEB_ENST00000409198.1_Silent_p.L2411L	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	2411					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GATTTATATAGATTCTGTGAA	0.418000													6	26					0	0	1	0	0
IGHV3-53	28420	broad.mit.edu	37	14	107048718	107048718	+	RNA	SNP	A	A	G			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr14:107048718A>G	ENST00000390627.2	-	0	522																											CAGGCTGTTCATTTGAAGATA	0.517000													77	118					0	0	1	0	0
OR52L1	338751	broad.mit.edu	37	11	6007343	6007343	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr11:6007343C>T	ENST00000332249.4	-	1	872	c.818G>A	c.(817-819)gGa>gAa	p.G273E		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	273					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGAGAAAATTCCAGGGACATA	0.512000													17	34					0	0	1	0	0
CETP	1071	broad.mit.edu	37	16	57007293	57007293	+	Silent	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr16:57007293C>T	ENST00000200676.3	+	9	931	c.801C>T	c.(799-801)ttC>ttT	p.F267F	CETP_ENST00000379780.2_Intron|CETP_ENST00000566128.1_Silent_p.F202F	NM_000078.2	NP_000069.2	P11597	CETP_HUMAN	cholesteryl ester transfer protein, plasma	267					cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle|vesicle	cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						TCCCCACCTTCTCGCCCACAC	0.602000													41	47					0	0	1	0	0
PCDHAC1	56135	broad.mit.edu	37	5	140306769	140306769	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr5:140306769G>A	ENST00000253807.2	+	1	292	c.292G>A	c.(292-294)Gac>Aac	p.D98N	PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.D98N|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018898.3	NP_061721.2														NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTGACCTACGACCTGGTGCT	0.607000													29	21					0	0	1	0	0
RBMXL2	27288	broad.mit.edu	37	11	7111420	7111420	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr11:7111420G>A	ENST00000306904.5	+	1	1256	c.1069G>A	c.(1069-1071)Ggc>Agc	p.G357S		NM_014469.4	NP_055284.3	O75526	HNRGT_HUMAN	RNA binding motif protein, X-linked-like 2	357	Arg/Gly/Pro-rich.					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CATGGAAAGGGGCTGCCCTCC	0.667000													10	11					0	0	1	0	0
OR2A14	135941	broad.mit.edu	37	7	143827120	143827120	+	Silent	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr7:143827120G>A	ENST00000408899.2	+	1	970	c.915G>A	c.(913-915)agG>agA	p.R305R		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	305					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					GGGCACTGAGGAAGGAGAGGC	0.483000													61	129					0	0	1	0	0
SCN8A	6334	broad.mit.edu	37	12	52082871	52082871	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr12:52082871G>A	ENST00000550891.1	+	6	825	c.697G>A	c.(697-699)Gta>Ata	p.V233I	SCN8A_ENST00000354534.5_Intron|SCN8A_ENST00000545061.1_Intron			Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	233					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	AACTATCTCTGTAATTCCAGG	0.438000													3	4					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25325293	25325293	+	RNA	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr15:25325293C>T	ENST00000549804.2	+	0	1377				SNORD116-14_ENST00000383894.1_RNA																							GTGTGTGGATCGATGATGACT	0.438000													33	129					0	0	1	0	0
FAAH2	158584	broad.mit.edu	37	X	57407403	57407403	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chrX:57407403G>A	ENST00000374900.4	+	7	1057	c.937G>A	c.(937-939)Gat>Aat	p.D313N		NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2	313						integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity			endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						GATGGAACATGATGGAGGCTC	0.279000										HNSCC(52;0.14)			14	16					0	0	1	0	0
SLC4A3	6508	broad.mit.edu	37	2	220498001	220498001	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr2:220498001C>T	ENST00000358055.3	+	10	1795	c.1283C>T	c.(1282-1284)cCc>cTc	p.P428L	SLC4A3_ENST00000317151.3_Missense_Mutation_p.P428L|SLC4A3_ENST00000373760.2_Missense_Mutation_p.P428L|SLC4A3_ENST00000273063.6_Missense_Mutation_p.P455L|SLC4A3_ENST00000373762.3_Missense_Mutation_p.P455L			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	428					bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCCAGCCATCCCAACGATGAC	0.582000													19	60					0	0	1	0	0
PHIP	55023	broad.mit.edu	37	6	79787191	79787191	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr6:79787191C>T	ENST00000275034.4	-	4	330	c.163G>A	c.(163-165)Gag>Aag	p.E55K		NM_017934.5	NP_060404.3	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	55					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		ctgggatgctccttcccggtc	0.617000													28	107					0	0	1	0	0
HHIPL2	79802	broad.mit.edu	37	1	222717364	222717364	+	Silent	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:222717364C>T	ENST00000343410.6	-	2	547	c.489G>A	c.(487-489)agG>agA	p.R163R		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	163					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		GGGTACCGTCCCTTCCATGAG	0.567000													32	82					0	0	1	0	0
AEBP2	121536	broad.mit.edu	37	12	19615523	19615523	+	Missense_Mutation	SNP	A	A	C			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr12:19615523A>C	ENST00000266508.9	+	2	752	c.751A>C	c.(751-753)Agc>Cgc	p.S251R	AEBP2_ENST00000398864.3_Missense_Mutation_p.S251R|AEBP2_ENST00000541908.1_Missense_Mutation_p.S22R|AEBP2_ENST00000360995.4_Missense_Mutation_p.S35R	NM_153207.4	NP_694939.2	Q6ZN18	AEBP2_HUMAN	AE binding protein 2	251	Interaction with RBBP4.|Ser-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|zinc ion binding			ovary(1)	1	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)|Esophageal squamous(101;0.143)					TGGACAAGGAAGCACTACTTC	0.433000													10	17					0	0	1	0	0
CCDC39	339829	broad.mit.edu	37	3	180366006	180366006	+	Silent	SNP	A	A	G			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr3:180366006A>G	ENST00000273654.4	-	16	2180	c.1561T>C	c.(1561-1563)Tta>Cta	p.L521L	CCDC39_ENST00000442201.2_Silent_p.L437L			Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	437					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			AGTTTTTGTAACTGATGGTTG	0.338000													14	20					0	0	1	0	0
EFCAB4B	84766	broad.mit.edu	37	12	3757713	3757713	+	Silent	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr12:3757713G>A	ENST00000440314.2	-	11	1586	c.1113C>T	c.(1111-1113)ttC>ttT	p.F371F	EFCAB4B_ENST00000444507.1_Silent_p.F371F|EFCAB4B_ENST00000252322.1_Silent_p.F371F	NM_001144958.1	NP_001138430.1	Q9BSW2	EFC4B_HUMAN	EF-hand calcium binding domain 4B	371					activation of store-operated calcium channel activity|store-operated calcium entry	cytoplasm	calcium ion binding|protein binding			breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			CGCACCTTAGGAAATCCAGCT	0.607000													15	46					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152329201	152329201	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:152329201C>T	ENST00000388718.5	-	3	1133	c.1061G>A	c.(1060-1062)gGa>gAa	p.G354E	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	354	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGCTCCATATCCTCTCTGACT	0.507000													23	69					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9086450	9086450	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr19:9086450C>T	ENST00000397910.4	-	1	5568	c.5365G>A	c.(5365-5367)Gag>Aag	p.E1789K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1789	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAGCTGGACTCTGTCCTTGCT	0.468000													27	29					0	0	1	0	0
AMER3	205147	broad.mit.edu	37	2	131520187	131520187	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr2:131520187G>A	ENST00000423981.1	+	2	652	c.542G>A	c.(541-543)gGg>gAg	p.G181E	AMER3_ENST00000321420.4_Missense_Mutation_p.G181E	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2			APC membrane recruitment protein 3																		GCGGCCGAGGGGAAAAGCCTG	0.647000													20	91					0	0	1	0	0
JAKMIP1	152789	broad.mit.edu	37	4	6107519	6107519	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr4:6107519G>A	ENST00000409021.3	-	3	754	c.305C>T	c.(304-306)aCc>aTc	p.T102I	JAKMIP1_ENST00000409371.3_Intron|JAKMIP1_ENST00000457227.2_Intron|JAKMIP1_ENST00000282924.5_Missense_Mutation_p.T102I|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.T102I|JAKMIP1_ENST00000410077.2_Intron	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	102	Mediates association with microtubules.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GATCTTGGCGGTGCGCGCCGC	0.682000													18	9					0	0	1	0	0
LRFN2	57497	broad.mit.edu	37	6	40399596	40399596	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr6:40399596T>A	ENST00000338305.6	-	2	1799	c.1257A>T	c.(1255-1257)aaA>aaT	p.K419N		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	419	Fibronectin type-III.					cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCGGGGGGCTTTTGGGAGGCT	0.652000													12	84					0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37027774	37027774	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chrX:37027774C>T	ENST00000358047.3	+	1	1343	c.1291C>T	c.(1291-1293)Ccc>Tcc	p.P431S		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	431										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CCTGGAGCCTCCCAAGACTCG	0.607000													35	35					0	0	1	0	0
ITGA7	3679	broad.mit.edu	37	12	56086993	56086993	+	Missense_Mutation	SNP	C	C	T	rs144983062	byFrequency	TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr12:56086993C>T	ENST00000257880.7	-	21	2995	c.2776G>A	c.(2776-2778)Gag>Aag	p.E926K	ITGA7_ENST00000553804.1_Missense_Mutation_p.E886K|ITGA7_ENST00000394230.2_Missense_Mutation_p.E886K|ITGA7_ENST00000555728.1_Missense_Mutation_p.E926K|ITGA7_ENST00000347027.6_Missense_Mutation_p.E876K|ITGA7_ENST00000257879.6_Missense_Mutation_p.E882K|ITGA7_ENST00000452168.2_Missense_Mutation_p.E789K|ITGA7_ENST00000394229.2_Missense_Mutation_p.E882K			Q13683	ITA7_HUMAN	integrin, alpha 7	926					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CCCTCCAGCTCAACCTGCATT	0.602000													34	84					0	0	1	0	0
MROH7	374977	broad.mit.edu	37	1	55172175	55172175	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:55172175G>A	ENST00000414150.2	+	22	3910	c.3632G>A	c.(3631-3633)cGg>cAg	p.R1211Q	MROH7_ENST00000454855.2_Missense_Mutation_p.R729Q|MROH7_ENST00000409996.1_Missense_Mutation_p.R779Q|MROH7_ENST00000421030.2_Missense_Mutation_p.R1211Q					maestro heat-like repeat family member 7																		AAGAACTCACGGGCCTCCCTC	0.557000													19	62					0	0	1	0	0
IGSF1	3547	broad.mit.edu	37	X	130411846	130411846	+	Silent	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chrX:130411846C>T	ENST00000370904.1	-	19	3187	c.2277G>A	c.(2275-2277)ctG>ctA	p.L759L	IGSF1_ENST00000361420.3_Silent_p.L768L|IGSF1_ENST00000370903.3_Silent_p.L773L|IGSF1_ENST00000370910.1_Silent_p.L759L			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	768	Ig-like C2-type 7.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						TGACAAGCTCCAGCGGCTCAC	0.542000													14	9					0	0	1	0	0
SRMS	6725	broad.mit.edu	37	20	62173661	62173661	+	Silent	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr20:62173661G>A	ENST00000217188.1	-	5	841	c.801C>T	c.(799-801)ctC>ctT	p.L267L		NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites	267	Protein kinase.						ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			CGAGGTCAGTGAGCTTCATGT	0.662000													26	36					0	0	1	0	0
DNHD1	144132	broad.mit.edu	37	11	6520102	6520102	+	Silent	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr11:6520102C>T	ENST00000254579.6	+	3	1221	c.657C>T	c.(655-657)ccC>ccT	p.P219P	DNHD1_ENST00000527990.2_Silent_p.P219P|DNHD1_ENST00000354685.3_Silent_p.P219P	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	219					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GTCTCCTTCCCTTGGCACTGG	0.557000													18	49					0	0	1	0	0
TIAM2	26230	broad.mit.edu	37	6	155451201	155451201	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr6:155451201C>T	ENST00000461783.3	+	6	2117	c.844C>T	c.(844-846)Cca>Tca	p.P282S	TIAM2_ENST00000360366.4_Missense_Mutation_p.P282S|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000456144.1_Missense_Mutation_p.P282S|TIAM2_ENST00000318981.5_Missense_Mutation_p.P282S|TIAM2_ENST00000529824.2_Missense_Mutation_p.P282S			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	282					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			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)		TGCCAGCTTCCCACCTGGCGA	0.622000													22	62					0	0	1	0	0
CDHR3	222256	broad.mit.edu	37	7	105644979	105644979	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr7:105644979C>T	ENST00000542731.1	+	8	1006	c.898C>T	c.(898-900)Cga>Tga	p.R300*	CDHR3_ENST00000541203.1_3'UTR|CDHR3_ENST00000478080.1_Nonsense_Mutation_p.R212*|CDHR3_ENST00000470188.1_3'UTR|CDHR3_ENST00000317716.9_Nonsense_Mutation_p.R300*|CDHR3_ENST00000343407.5_Nonsense_Mutation_p.R17*			Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	300	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						AAGGATAGACCGAGATGCAGG	0.448000													14	10					0	0	1	0	0
OR4K14	122740	broad.mit.edu	37	14	20483167	20483167	+	Silent	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr14:20483167G>A	ENST00000305045.2	-	1	185	c.186C>T	c.(184-186)ttC>ttT	p.F62F		NM_001004712.1	NP_001004712.1	Q8NGD5	OR4KE_HUMAN	olfactory receptor, family 4, subfamily K, member 14	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TCCCCAGCAGGAAGTACATAG	0.468000													9	23					0	0	1	0	0
TF	7018	broad.mit.edu	37	3	133478170	133478170	+	Silent	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr3:133478170C>T	ENST00000402696.3	+	9	1685	c.1200C>T	c.(1198-1200)atC>atT	p.I400I	TF_ENST00000264998.3_Silent_p.I273I	NM_001063.3	NP_001054.1	P02787	TRFE_HUMAN	transferrin	400	Transferrin-like 2.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	TCGCCAAGATCATGGTATGTC	0.532000													20	70					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110457107	110457107	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr8:110457107C>T	ENST00000378402.5	+	38	5113	c.5009C>T	c.(5008-5010)tCa>tTa	p.S1670L		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1670	IPT/TIG 9.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AATGCAGGATCAACTACAGGA	0.428000										HNSCC(38;0.096)			30	88					0	0	1	0	0
OR51E1	143503	broad.mit.edu	37	11	4673831	4673831	+	Silent	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr11:4673831G>A	ENST00000396952.5	+	2	725	c.75G>A	c.(73-75)gaG>gaA	p.E25E	OR51E1_ENST00000530215.1_Silent_p.E25E	NM_152430.3	NP_689643.2	Q8TCB6	O51E1_HUMAN	olfactory receptor, family 51, subfamily E, member 1	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTTTAGAAGAGGCTCAGTTCT	0.493000													29	88					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179436015	179436015	+	Silent	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr2:179436015C>T	ENST00000589042.1	-	326	75068	c.74844G>A	c.(74842-74844)aaG>aaA	p.K24948K	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Silent_p.K15883K|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.K23307K|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Silent_p.K22380K|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Silent_p.K16075K|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Silent_p.K16008K|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23307							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)			TATTTCTTTCCTTGCGTTCTA	0.413000													20	58					0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58134494	58134494	+	Silent	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr3:58134494C>T	ENST00000357272.4	+	36	6171	c.6006C>T	c.(6004-6006)gcC>gcT	p.A2002A	FLNB_ENST00000295956.4_Silent_p.A2002A|FLNB_ENST00000358537.3_Silent_p.A1978A|FLNB_ENST00000348383.5_Silent_p.A2002A|FLNB_ENST00000419752.2_Silent_p.A1822A|FLNB_ENST00000493452.1_Silent_p.A1809A|FLNB_ENST00000490882.1_Silent_p.A2033A|FLNB_ENST00000429972.2_Silent_p.A1991A			O75369	FLNB_HUMAN	filamin B, beta	2002	Interaction with the cytoplasmic tail of GP1BA.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		TTGGTGACGCCCGCCGAGCCA	0.572000													29	51					0	0	1	0	0
IQSEC3	440073	broad.mit.edu	37	12	271212	271212	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr12:271212C>T	ENST00000538872.1	+	8	2682	c.2564C>T	c.(2563-2565)tCc>tTc	p.S855F	IQSEC3_ENST00000382841.2_Missense_Mutation_p.S552F|IQSEC3_ENST00000326261.4_Missense_Mutation_p.S855F			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	855	PH.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		GTGGAGAAGTCCATTGTGGGC	0.512000													12	26					0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70633770	70633770	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr14:70633770G>A	ENST00000381269.2	-	2	2123	c.1370C>T	c.(1369-1371)cCa>cTa	p.P457L	SLC8A3_ENST00000356921.2_Missense_Mutation_p.P457L|SLC8A3_ENST00000357887.3_Missense_Mutation_p.P457L|SLC8A3_ENST00000534137.1_Missense_Mutation_p.P457L|SLC8A3_ENST00000528359.1_Missense_Mutation_p.P457L	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	457	Calx-beta 1.				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)		GGTCTCTCCTGGCTTCAGAAC	0.483000													80	110					0	0	1	0	0
GRIP2	80852	broad.mit.edu	37	3	14549126	14549126	+	RNA	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr3:14549126G>A	ENST00000273083.3	-	0	2225							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						TGCAGGAGGTGGATGGCCTCG	0.602000													30	27					0	0	1	0	0
ARHGAP8	23779	broad.mit.edu	37	22	45197981	45197981	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr22:45197981T>G	ENST00000517296.3	+	9	866	c.866T>G	c.(865-867)gTt>gGt	p.V289G	ARHGAP8_ENST00000389774.2_Missense_Mutation_p.V35G|ARHGAP8_ENST00000389773.5_Missense_Mutation_p.V157G|PRR5-ARHGAP8_ENST00000352766.7_Missense_Mutation_p.V289G|ARHGAP8_ENST00000356099.6_Missense_Mutation_p.V35G|ARHGAP8_ENST00000336963.4_Missense_Mutation_p.V35G|PRR5-ARHGAP8_ENST00000361473.5_Missense_Mutation_p.V166G					Rho GTPase activating protein 8											breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(9)|prostate(1)|skin(7)	29		all_neural(38;0.00409)|Ovarian(80;0.00976)|Glioma(61;0.0649)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0204)		GGAAGACGTGTTGTCACGTTC	0.582000													15	84					0	0	1	0	0
RLN1	6013	broad.mit.edu	37	9	5335324	5335324	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr9:5335324C>G	ENST00000223862.1	-	2	611	c.485G>C	c.(484-486)cGa>cCa	p.R162P	RLN1_ENST00000223858.4_3'UTR|RLN1_ENST00000487557.2_5'UTR	NM_006911.2	NP_008842.1	P04808	REL1_HUMAN	relaxin 1	162					female pregnancy|signal transduction	extracellular region	hormone activity			large_intestine(1)|lung(4)	5	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.02)|Lung(218;0.0984)		CACGTAGGGTCGTCTCTTTTT	0.388000													545	26					0	0	1	0	0
NKX2-2	4821	broad.mit.edu	37	20	21493040	21493040	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr20:21493040C>T	ENST00000377142.4	-	2	699	c.343G>A	c.(343-345)Gac>Aac	p.D115N		NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN	NK2 homeobox 2	115					brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						GTCTCCTTGTCATTGTCCGGT	0.697000													6	15					0	0	1	0	0
ATP1B4	23439	broad.mit.edu	37	X	119496050	119496050	+	Silent	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chrX:119496050G>A	ENST00000218008.3	+	1	84	c.27G>A	c.(25-27)agG>agA	p.R9R	ATP1B4_ENST00000539306.1_Silent_p.R9R|ATP1B4_ENST00000361319.3_Silent_p.R9R	NM_001142447.2	NP_001135919.1	Q9UN42	AT1B4_HUMAN	ATPase, Na+/K+ transporting, beta 4 polypeptide	9					ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to plasma membrane|nuclear inner membrane	sodium:potassium-exchanging ATPase activity	p.R9S(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						GGTCCAGAAGGGCTCCATCCT	0.532000													51	56					0	0	1	0	0
NRIP3	56675	broad.mit.edu	37	11	9009764	9009764	+	Silent	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr11:9009764G>A	ENST00000309166.3	-	2	353	c.240C>T	c.(238-240)ccC>ccT	p.P80P	NRIP3_ENST00000531090.1_Silent_p.P80P	NM_020645.2	NP_065696.1	Q9NQ35	NRIP3_HUMAN	nuclear receptor interacting protein 3	80					proteolysis		aspartic-type endopeptidase activity			large_intestine(1)|lung(4)|skin(1)|stomach(1)	7				Epithelial(150;4.77e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0241)		AAGGGACACGGGGACCGCTTC	0.493000													15	60					0	0	1	0	0
PKDREJ	10343	broad.mit.edu	37	22	46656336	46656336	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr22:46656336C>T	ENST00000253255.5	-	1	2883	c.2884G>A	c.(2884-2886)Gca>Aca	p.A962T		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	962					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		TTAAAAGCTGCAAAGGTCAAG	0.478000													36	132					0	0	1	0	0
MYH3	4621	broad.mit.edu	37	17	10544415	10544415	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr17:10544415C>T	ENST00000583535.1	-	19	2239	c.2152G>A	c.(2152-2154)Gat>Aat	p.D718N	MYH3_ENST00000226209.7_Missense_Mutation_p.D718N	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	718	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TGTTTAAAATCGCCATAGAGA	0.458000													20	69					0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140346522	140346522	+	Silent	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr5:140346522C>T	ENST00000289269.5	+	1	703	c.171C>T	c.(169-171)ctC>ctT	p.L57L	PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHAC1_ENST00000253807.2_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN		57	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGGCGCGCTCGTGGGCAACG	0.692000													6	14					0	0	1	0	0
NUP98	4928	broad.mit.edu	37	11	3720321	3720321	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr11:3720321G>A	ENST00000324932.7	-	25	4420	c.4000C>T	c.(4000-4002)Cag>Tag	p.Q1334*	NUP98_ENST00000359171.4_Nonsense_Mutation_p.Q1334*|NUP98_ENST00000355260.3_Nonsense_Mutation_p.Q1334*	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	1351					carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		CCTGACTGCTGGGCCAGAGAG	0.542000			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML								34	112					0	0	1	0	0
CD160	11126	broad.mit.edu	37	1	145699068	145699068	+	Silent	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:145699068C>T	ENST00000369290.1	-	3	253	c.96G>A	c.(94-96)acG>acA	p.T32T	CD160_ENST00000235933.6_Silent_p.T141T|CD160_ENST00000401557.3_Silent_p.T141T|CD160_ENST00000369288.2_Silent_p.T141T			O95971	BY55_HUMAN	CD160 molecule	141	Ig-like V-type.				cell proliferation|cell surface receptor linked signaling pathway|cellular defense response|regulation of immune response	anchored to plasma membrane	MHC class I receptor activity|receptor binding			endometrium(3)|large_intestine(2)|lung(2)	7	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)			GTTTCAATCCCGTCACTGTGT	0.448000													5	35					0	0	1	0	0
MYOM3	127294	broad.mit.edu	37	1	24398487	24398487	+	Silent	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:24398487C>T	ENST00000330966.7	-	24	3150	c.2988G>A	c.(2986-2988)aaG>aaA	p.K996K	MYOM3_ENST00000374434.3_Silent_p.K995K|RP11-293P20.2_ENST00000439239.2_RNA|RP11-293P20.4_ENST00000429191.1_RNA|MYOM3_ENST00000329601.7_Silent_p.K995K			Q5VTT5	MYOM3_HUMAN	myomesin 3	995										NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		GACTCAGCTTCTTCAGCTTCT	0.557000													10	35					0	0	1	0	0
GPR158	57512	broad.mit.edu	37	10	25861619	25861619	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr10:25861619C>T	ENST00000376351.3	+	7	1915	c.1556C>T	c.(1555-1557)cCa>cTa	p.P519L		NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	519						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						CAACGAATTCCATATATGACT	0.413000													34	61					0	0	1	0	0
MAEL	84944	broad.mit.edu	37	1	166973532	166973532	+	Silent	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:166973532C>T	ENST00000367872.4	+	6	883	c.639C>T	c.(637-639)atC>atT	p.I213I	MAEL_ENST00000491055.1_3'UTR|MAEL_ENST00000367870.2_Silent_p.I182I	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	213					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						GGCCACCTATCTACTGCAAGG	0.343000													15	33					0	0	1	0	0
KAT6B	23522	broad.mit.edu	37	10	76735664	76735664	+	Silent	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr10:76735664C>T	ENST00000287239.4	+	8	2058	c.1569C>T	c.(1567-1569)tcC>tcT	p.S523S	KAT6B_ENST00000372711.1_Intron|KAT6B_ENST00000372714.1_Intron|KAT6B_ENST00000372724.1_Intron|KAT6B_ENST00000372725.1_Intron	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN	K(lysine) acetyltransferase 6B	523	Negatively regulates HAT activity.|Poly-Ser.|Ser-rich.				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding										AGAGTTCTTCCAGCCAGTGCA	0.557000													37	28					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70977820	70977820	+	Silent	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr16:70977820G>A	ENST00000393567.2	-	42	6714	c.6564C>T	c.(6562-6564)atC>atT	p.I2188I		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2188										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GCCAGCGGTGGATGGGCCCCG	0.582000													6	20					0	0	1	0	0
EIF4G3	8672	broad.mit.edu	37	1	21151601	21151601	+	Silent	SNP	A	A	G			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:21151601A>G	ENST00000602326.1	-	31	4793	c.4210T>C	c.(4210-4212)Ttg>Ctg	p.L1404L	EIF4G3_ENST00000374935.3_Silent_p.L1118L|EIF4G3_ENST00000374937.3_Silent_p.L1404L|EIF4G3_ENST00000537738.1_Silent_p.L888L|EIF4G3_ENST00000264211.8_Silent_p.L1398L|EIF4G3_ENST00000536266.1_Silent_p.L1002L|EIF4G3_ENST00000400422.1_Silent_p.L1398L	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	1398					interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		ACCTGCTCCAAAAGAAAATTA	0.393000													2	14					0	0	1	0	0
MARCO	8685	broad.mit.edu	37	2	119732137	119732137	+	Silent	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr2:119732137G>A	ENST00000541757.1	+	7	755	c.375G>A	c.(373-375)gaG>gaA	p.E125E	MARCO_ENST00000327097.4_Silent_p.E203E			Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	203					cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						TCAAGGGAGAGGCGGGTGAGT	0.572000													5	11					0	0	1	0	0
ZBBX	79740	broad.mit.edu	37	3	167033611	167033611	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr3:167033611C>T	ENST00000392766.2	-	15	1541	c.1201G>A	c.(1201-1203)Gaa>Aaa	p.E401K	ZBBX_ENST00000455345.2_Missense_Mutation_p.E401K|ZBBX_ENST00000392767.2_Missense_Mutation_p.E401K|ZBBX_ENST00000392764.1_Missense_Mutation_p.E372K|ZBBX_ENST00000307529.5_Missense_Mutation_p.E401K	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	401						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						AATTCCTCTTCATAAGTCtta	0.269000													7	17					0	0	1	0	0
LIFR	3977	broad.mit.edu	37	5	38493882	38493882	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr5:38493882G>A	ENST00000263409.4	-	14	2053	c.1891C>T	c.(1891-1893)Ctc>Ttc	p.L631F	LIFR_ENST00000503088.1_5'UTR|LIFR_ENST00000453190.2_Missense_Mutation_p.L631F	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	631	Fibronectin type-III 5.				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					TCTATTTTGAGATCATCTTCA	0.368000			T	PLAG1	salivary adenoma								16	52					0	0	1	0	0
ACSM2B	348158	broad.mit.edu	37	16	20570656	20570656	+	Silent	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr16:20570656G>A	ENST00000329697.6	-	3	459	c.291C>T	c.(289-291)ctC>ctT	p.L97L	ACSM2B_ENST00000567001.1_Silent_p.L97L|ACSM2B_ENST00000565232.1_Silent_p.L97L|ACSM2B_ENST00000565322.1_Silent_p.L18L|ACSM2B_ENST00000414188.2_Silent_p.L97L	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	97					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						AGGCTCCCGAGAGGATGTTGG	0.587000													7	11					0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73849751	73849751	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr8:73849751G>A	ENST00000523207.1	+	3	2749	c.2161G>A	c.(2161-2163)Gaa>Aaa	p.E721K		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	721					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			GAACTTTAAGGAAAATAGAGG	0.527000													63	107					0	0	1	0	0
TULP4	56995	broad.mit.edu	37	6	158902309	158902309	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr6:158902309G>A	ENST00000367097.3	+	8	2831	c.1474G>A	c.(1474-1476)Gat>Aat	p.D492N	TULP4_ENST00000367094.2_Missense_Mutation_p.D492N	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	492					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		CCCGCGGACAGATAGCAAACC	0.602000													8	23					0	0	1	0	0
GABRB3	2562	broad.mit.edu	37	15	26825473	26825473	+	Silent	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr15:26825473G>A	ENST00000541819.2	-	7	945	c.843C>T	c.(841-843)ttC>ttT	p.F281F	GABRB3_ENST00000299267.4_Silent_p.F225F|GABRB3_ENST00000400188.3_Silent_p.F154F|GABRB3_ENST00000311550.5_Silent_p.F225F|GABRB3_ENST00000545868.1_Silent_p.F140F			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	225					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CACCTGTGGCGAAGACAACAT	0.572000													29	42					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179497692	179497692	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr2:179497692G>A	ENST00000589042.1	-	234	43390	c.43166C>T	c.(43165-43167)tCc>tTc	p.S14389F	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S5324F|TTN_ENST00000591111.1_Missense_Mutation_p.S12748F|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S11821F|TTN_ENST00000342175.6_Missense_Mutation_p.S5516F|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S5449F	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12748							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)			AGCCTGGAAGGAAACCTCTCC	0.438000													18	46					0	0	1	0	0
SMARCA4	6597	broad.mit.edu	37	19	11101985	11101985	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr19:11101985C>T	ENST00000358026.2	+	8	1689	c.1405C>T	c.(1405-1407)Cgg>Tgg	p.R469W	SMARCA4_ENST00000541122.2_Missense_Mutation_p.R469W|SMARCA4_ENST00000444061.3_Missense_Mutation_p.R469W|SMARCA4_ENST00000450717.3_Missense_Mutation_p.R469W|SMARCA4_ENST00000590574.1_Missense_Mutation_p.R469W|SMARCA4_ENST00000344626.4_Missense_Mutation_p.R469W|SMARCA4_ENST00000589677.1_Missense_Mutation_p.R469W|SMARCA4_ENST00000429416.3_Missense_Mutation_p.R469W|SMARCA4_ENST00000413806.3_Missense_Mutation_p.R469W	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	469	HSA.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GCGCAAGCGCCGGCAGAAGCA	0.662000			"""F, N, Mis"""		NSCLC								4	15					0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77396068	77396068	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr16:77396068C>T	ENST00000282849.5	-	7	1568	c.1150G>A	c.(1150-1152)Gat>Aat	p.D384N		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	384	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						ATGGCATGATCATGTCTCTTG	0.418000													12	24					0	0	1	0	0
HMGXB4	10042	broad.mit.edu	37	22	35679978	35679978	+	Silent	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr22:35679978C>T	ENST00000216106.5	+	6	1367	c.1239C>T	c.(1237-1239)gcC>gcT	p.A413A	HMGXB4_ENST00000444518.2_Silent_p.A304A	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN	HMG box domain containing 4	413					endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	NURF complex	DNA binding			breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ACATGTCGGCCTACCAGGTGT	0.418000													21	30					0	0	1	0	0
DSC1	1823	broad.mit.edu	37	18	28721967	28721967	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr18:28721967C>A	ENST00000257197.3	-	9	1516	c.1255G>T	c.(1255-1257)Gtc>Ttc	p.V419F	RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257198.5_Missense_Mutation_p.V419F	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	419	Cadherin 3.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			TTTACCTTGACAACACACAGC	0.323000													4	30					0.150653	0.150653	1	1	0
ACSM4	341392	broad.mit.edu	37	12	7476100	7476100	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr12:7476100G>A	ENST00000399422.4	+	9	1300	c.1252G>A	c.(1252-1254)Gaa>Aaa	p.E418K		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	418					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			endometrium(6)|kidney(1)|lung(14)	21						CAAAGAAGGGGAAATTGCCCT	0.373000													12	20					0	0	1	0	0
HERC2P4	100289574	broad.mit.edu	37	16	32163803	32163803	+	RNA	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr16:32163803G>A	ENST00000564145.1	-	0	31																											AGCTGTGGGTGATGGAGCGGA	0.527000													33	39					0	0	1	0	0
ITGBL1	9358	broad.mit.edu	37	13	102235598	102235598	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr13:102235598G>A	ENST00000376180.3	+	6	979	c.760G>A	c.(760-762)Gat>Aat	p.D254N	ITGBL1_ENST00000545560.2_Missense_Mutation_p.D113N|ITGBL1_ENST00000376162.3_Missense_Mutation_p.D161N	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat domains)	254	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity			breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TACCTGTCACGATGTTGATCC	0.428000													41	108					0	0	1	0	0
OR52E8	390079	broad.mit.edu	37	11	5878393	5878393	+	Silent	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr11:5878393G>A	ENST00000537935.1	-	1	571	c.540C>T	c.(538-540)atC>atT	p.I180I	TRIM5_ENST00000380027.1_Intron	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E, member 8	180					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAGTATGAGGGATGATACGAT	0.507000													21	72					0	0	1	0	0
SIGLEC5	8778	broad.mit.edu	37	19	52130742	52130742	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr19:52130742G>A	ENST00000222107.4	-	6	1393	c.1255C>T	c.(1255-1257)Cag>Tag	p.Q419*	SIGLEC5_ENST00000599649.1_Nonsense_Mutation_p.Q419*|SIGLEC5_ENST00000570106.2_Nonsense_Mutation_p.Q419*|SIGLEC5_ENST00000534261.2_Nonsense_Mutation_p.Q419*|SIGLEC5_ENST00000429354.3_Nonsense_Mutation_p.Q419*			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	419					cell adhesion	integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		GAGCCGCTCTGGGACCCATAG	0.647000													75	75					0	0	1	0	0
CEP250	11190	broad.mit.edu	37	20	34085873	34085873	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr20:34085873C>T	ENST00000397527.1	+	26	4352	c.3632C>T	c.(3631-3633)cCt>cTt	p.P1211L	CEP250_ENST00000342580.4_Missense_Mutation_p.P1155L	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	1211	Gln/Glu-rich.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			GACTCTGCTCCTTCCGTCTGG	0.647000													16	13					0	0	1	0	0
GALNT14	79623	broad.mit.edu	37	2	31181291	31181291	+	Silent	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr2:31181291G>A	ENST00000349752.5	-	4	1077	c.438C>T	c.(436-438)atC>atT	p.I146I	GALNT14_ENST00000406653.1_Silent_p.I126I|GALNT14_ENST00000420311.2_Silent_p.I111I|GALNT14_ENST00000356174.3_Silent_p.I113I|GALNT14_ENST00000324589.5_Silent_p.I151I	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)	146	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					CCACTAATATGATTTCCCGGA	0.433000													9	27					0	0	1	0	0
TRIM69	140691	broad.mit.edu	37	15	45059500	45059500	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr15:45059500G>A	ENST00000558173.1	+	5	5166	c.421G>A	c.(421-423)Gtc>Atc	p.V141I	TRIM69_ENST00000559390.1_Missense_Mutation_p.V345I|TRIM69_ENST00000338264.4_Missense_Mutation_p.V186I|TRIM69_ENST00000558329.1_Missense_Mutation_p.V124I|TRIM69_ENST00000561043.1_Missense_Mutation_p.V108I|TRIM69_ENST00000329464.4_Missense_Mutation_p.V345I|TRIM69_ENST00000560442.1_Missense_Mutation_p.V141I			Q86WT6	TRI69_HUMAN	tripartite motif containing 69	345	Necessary for nuclear localization (By similarity).				apoptosis	nuclear speck	zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)		CCAAACCAGCGTCTGGCATGG	0.473000													20	97					0	0	1	0	0
FAM83B	222584	broad.mit.edu	37	6	54735221	54735221	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr6:54735221A>T	ENST00000306858.7	+	2	293	c.177A>T	c.(175-177)gaA>gaT	p.E59D		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	59										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TTGCTGAGGAAGAAATTAATT	0.383000													14	76					0	0	1	0	0
ZNF555	148254	broad.mit.edu	37	19	2853208	2853208	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr19:2853208C>T	ENST00000334241.4	+	4	1283	c.1145C>T	c.(1144-1146)tCc>tTc	p.S382F	ZNF555_ENST00000591539.1_Missense_Mutation_p.S381F|AC006130.3_ENST00000589365.1_RNA	NM_001172775.1|NM_152791.4	NP_001166246.1|NP_690004.4	Q8NEP9	ZN555_HUMAN	zinc finger protein 555	382					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TATCCCCAGTCCTTTCGAAGA	0.468000													6	10					0	0	1	0	0
AKAP4	8852	broad.mit.edu	37	X	49958119	49958119	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chrX:49958119C>T	ENST00000376056.2	-	5	1368	c.1218G>A	c.(1216-1218)tgG>tgA	p.W406*	AKAP4_ENST00000376064.3_Nonsense_Mutation_p.W406*|AKAP4_ENST00000376058.2_Intron|AKAP4_ENST00000358526.2_Nonsense_Mutation_p.W415*|AKAP4_ENST00000481402.1_5'UTR			Q5JQC9	AKAP4_HUMAN	A kinase (PRKA) anchor protein 4	415					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					CATTTTGTTTCCACTGGTTGA	0.448000													28	23					0	0	1	0	0
ALK	238	broad.mit.edu	37	2	29474030	29474030	+	Silent	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr2:29474030C>T	ENST00000389048.3	-	12	3051	c.2145G>A	c.(2143-2145)ggG>ggA	p.G715G	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	715					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	GGCCCTCGCTCCCCACCTCCA	0.647000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				5	17					0	0	1	0	0
GRIK1	2897	broad.mit.edu	37	21	31066362	31066362	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr21:31066362C>T	ENST00000399914.1	-	2	660	c.139G>A	c.(139-141)Gaa>Aaa	p.E47K	GRIK1_ENST00000535441.1_Missense_Mutation_p.E47K|GRIK1_ENST00000399907.1_Missense_Mutation_p.E47K|GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000389124.2_Missense_Mutation_p.E47K|GRIK1_ENST00000327783.4_Missense_Mutation_p.E47K|GRIK1_ENST00000399909.1_Missense_Mutation_p.E47K|GRIK1_ENST00000389125.3_Missense_Mutation_p.E47K|GRIK1_ENST00000309434.7_Missense_Mutation_p.E47K|GRIK1_ENST00000399913.1_Missense_Mutation_p.E47K			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	47					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	GGCTCATTTTCCACTGTTTCA	0.358000													6	36					0	0	1	0	0
NACA	4666	broad.mit.edu	37	12	57111267	57111267	+	Silent	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr12:57111267G>A	ENST00000454682.1	-	3	4328	c.4047C>T	c.(4045-4047)ctC>ctT	p.L1349L	NACA_ENST00000356769.3_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000550952.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TTGTAGCTGGGAGAGTAGGGG	0.637000			T	BCL6	NHL								6	32					0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29608167	29608167	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr13:29608167G>A	ENST00000431530.3	+	2	2439	c.2381G>A	c.(2380-2382)aGg>aAg	p.R794K		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	784	Mediates interaction with MAPRE1.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						GCAAAGAGCAGGATTCTGATT	0.517000													15	44					0	0	1	0	0
ALOXE3	59344	broad.mit.edu	37	17	8013726	8013726	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr17:8013726C>T	ENST00000380149.1	-	8	1576	c.1546G>A	c.(1546-1548)Gcg>Acg	p.A516T	ALOXE3_ENST00000448843.2_Missense_Mutation_p.A360T|ALOXE3_ENST00000318227.3_Missense_Mutation_p.A492T			Q9BYJ1	LOXE3_HUMAN	arachidonate lipoxygenase 3	360	Lipoxygenase.				leukotriene biosynthetic process		iron ion binding|lipoxygenase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						GGCACCAGCGCCCCCTGGGGG	0.726000											OREG0024154	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	33					0	0	1	0	0
NUP210L	91181	broad.mit.edu	37	1	154027279	154027279	+	Silent	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:154027279C>T	ENST00000368559.3	-	24	3341	c.3270G>A	c.(3268-3270)gaG>gaA	p.E1090E	NUP210L_ENST00000368553.1_Silent_p.E23E|NUP210L_ENST00000271854.3_Silent_p.E1090E	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1090						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			GTGTCATTTTCTCTGGAAGAA	0.363000													4	34					0	0	1	0	0
BEND2	139105	broad.mit.edu	37	X	18183155	18183155	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chrX:18183155G>A	ENST00000380033.4	-	14	2506	c.2374C>T	c.(2374-2376)Ccc>Tcc	p.P792S		NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	792										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						GTGGCGTCGGGATCTCCTGGC	0.488000													27	47					0	0	1	0	0
SCN8A	6334	broad.mit.edu	37	12	52200469	52200469	+	Silent	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr12:52200469G>A	ENST00000354534.5	+	27	5377	c.5199G>A	c.(5197-5199)aaG>aaA	p.K1733K	SCN8A_ENST00000545061.1_Silent_p.K1692K	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1733					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	GTGGCTTTAAGGGAGATTGTG	0.507000													6	51					0	0	1	0	0
CSTF3	1479	broad.mit.edu	37	11	33108558	33108558	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr11:33108558G>A	ENST00000323959.4	-	18	1910	c.1771C>T	c.(1771-1773)Cca>Tca	p.P591S	TCP11L1_ENST00000324357.9_Intron	NM_001326.2	NP_001317.1	Q12996	CSTF3_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa	591	Pro-rich.				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						GGCTGAAATGGAATCATCTGC	0.428000													28	113					0	0	1	0	0
OR13C3	138803	broad.mit.edu	37	9	107298805	107298805	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr9:107298805G>A	ENST00000374781.2	-	1	332	c.290C>T	c.(289-291)tCt>tTt	p.S97F		NM_001001961.1	NP_001001961.1	Q8NGS6	O13C3_HUMAN	olfactory receptor, family 13, subfamily C, member 3	97					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						ATCCAGGAAAGAGAGGTTGCC	0.413000													34	27					0	0	1	0	0
DTNA	1837	broad.mit.edu	37	18	32457689	32457689	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr18:32457689G>A	ENST00000283365.9	+	18	2009	c.1658G>A	c.(1657-1659)aGa>aAa	p.R553K	DTNA_ENST00000444659.1_Missense_Mutation_p.R610K|DTNA_ENST00000598334.1_Missense_Mutation_p.R550K|DTNA_ENST00000269192.7_Missense_Mutation_p.R319K|DTNA_ENST00000399097.3_Missense_Mutation_p.R258K|DTNA_ENST00000590831.2_Missense_Mutation_p.R36K|DTNA_ENST00000399121.5_Missense_Mutation_p.R557K|DTNA_ENST00000591182.1_Missense_Mutation_p.R258K|DTNA_ENST00000269190.7_Missense_Mutation_p.R611K|DTNA_ENST00000601125.1_Missense_Mutation_p.R232K|DTNA_ENST00000399113.3_Missense_Mutation_p.R610K|DTNA_ENST00000595022.1_Missense_Mutation_p.R550K|DTNA_ENST00000598142.1_Missense_Mutation_p.R553K|DTNA_ENST00000556414.3_Missense_Mutation_p.R262K	NM_032975.3	NP_116757.2	Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	610					neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						GAAGGTTCAAGAAGAAACTTA	0.358000													8	24					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228973582	228973582	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr2:228973582C>T	ENST00000392056.3	-	3	258	c.212G>A	c.(211-213)gGt>gAt	p.G71D	SPHKAP_ENST00000344657.5_Missense_Mutation_p.G71D	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	71						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)		TTCTACAAAACCAATTTGGCA	0.463000													12	39					0	0	1	0	0
CYP26B1	56603	broad.mit.edu	37	2	72362009	72362009	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr2:72362009C>T	ENST00000001146.2	-	4	945	c.742G>A	c.(742-744)Gag>Aag	p.E248K	CYP26B1_ENST00000412253.1_Missense_Mutation_p.E57K|CYP26B1_ENST00000546307.1_Missense_Mutation_p.E173K	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	248					cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						ATGGCCTTCTCCAGCCCCTTC	0.612000													17	45					0	0	1	0	0
F13B	2165	broad.mit.edu	37	1	197026243	197026243	+	Silent	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:197026243C>T	ENST00000367412.1	-	7	1114	c.1071G>A	c.(1069-1071)ggG>ggA	p.G357G		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	357	Sushi 6.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						TCACTTTATCCCCATTGTAAT	0.418000													9	26					0	0	1	0	0
TRBV25-1	28562	broad.mit.edu	37	7	142378962	142378962	+	RNA	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr7:142378962G>A	ENST00000390398.3	+	0	267																											ACAGAGAAGGGAGATCTTTCC	0.478000													37	72					0	0	1	0	0
SLFN11	91607	broad.mit.edu	37	17	33680062	33680062	+	Silent	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr17:33680062G>A	ENST00000394566.1	-	7	2291	c.2019C>T	c.(2017-2019)ttC>ttT	p.F673F	SLFN11_ENST00000308377.4_Silent_p.F673F	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	673						nucleus	ATP binding			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CTTCAGTACGGAAATTCTGAG	0.448000													31	114					0	0	1	0	0
PHF20L1	51105	broad.mit.edu	37	8	133837322	133837322	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr8:133837322C>T	ENST00000315808.10	+	14	1962	c.1679C>T	c.(1678-1680)cCc>cTc	p.P560L	PHF20L1_ENST00000395386.2_Intron|PHF20L1_ENST00000395383.1_3'UTR|PHF20L1_ENST00000220847.7_Intron|PHF20L1_ENST00000395390.2_Intron|PHF20L1_ENST00000395382.3_Missense_Mutation_p.P430L			A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	0	Lys-rich.						nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			ATGAAGATCCCCTCTTATAGT	0.393000													8	26					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34209138	34209138	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:34209138C>T	ENST00000373381.4	-	14	2092	c.1916G>A	c.(1915-1917)gGc>gAc	p.G639D		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	599	CUB 4.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GAGGTGGTTGCCATAGTCCTC	0.562000													14	57					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228482034	228482034	+	Silent	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:228482034C>T	ENST00000570156.2	+	47	12674	c.12600C>T	c.(12598-12600)atC>atT	p.I4200I	OBSCN_ENST00000366709.4_Silent_p.I890I|OBSCN_ENST00000422127.1_Silent_p.I3771I|OBSCN_ENST00000284548.11_Silent_p.I3771I|OBSCN_ENST00000366707.4_Silent_p.I890I|OBSCN_ENST00000359599.6_Silent_p.I2618I	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3243	Ig-like 43.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGCTGCAGATCCGTGGCCTGG	0.632000													44	113					0	0	1	0	0
PRR23C	389152	broad.mit.edu	37	3	138762903	138762903	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr3:138762903C>T	ENST00000413199.1	-	1	831	c.560G>A	c.(559-561)aGc>aAc	p.S187N	MRPS22_ENST00000495075.1_Intron|PRR23C_ENST00000502927.2_Missense_Mutation_p.S187N	NM_001134657.1	NP_001128129.1	Q6ZRP0	PR23C_HUMAN	proline rich 23C	187										breast(2)|lung(7)|skin(2)	11						CCGGTAGGGGCTGAACATACT	0.652000													4	23					0	0	1	0	0
TFEC	22797	broad.mit.edu	37	7	115594693	115594693	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr7:115594693G>A	ENST00000265440.7	-	5	566	c.386C>T	c.(385-387)aCt>aTt	p.T129I	TFEC_ENST00000457268.1_Missense_Mutation_p.T62I|TFEC_ENST00000393485.1_Missense_Mutation_p.T100I|TFEC_ENST00000484212.1_Missense_Mutation_p.T219I|TFEC_ENST00000320239.7_Missense_Mutation_p.T100I	NM_012252.3	NP_036384.1	O14948	TFEC_HUMAN	transcription factor EC	129						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			TCTAGTGTCAGTTTCTGATCA	0.313000													6	13					0	0	1	0	0
TRIM58	25893	broad.mit.edu	37	1	248039677	248039677	+	Silent	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:248039677C>T	ENST00000366481.3	+	6	1395	c.1347C>T	c.(1345-1347)ttC>ttT	p.F449F	OR2W3_ENST00000537741.1_Intron	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	449	B30.2/SPRY.					intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CTTACTTTTTCATCTGTGATG	0.423000													23	67					0	0	1	0	0
CDH22	64405	broad.mit.edu	37	20	44845508	44845508	+	Silent	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr20:44845508G>A	ENST00000372262.3	-	4	1195	c.795C>T	c.(793-795)atC>atT	p.I265I	CDH22_ENST00000537909.1_Silent_p.I265I|CDH22_ENST00000474438.1_5'UTR	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	265	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				CGGTGACTACGATGGTGACGG	0.627000													23	113					0	0	1	0	0
IL1R2	7850	broad.mit.edu	37	2	102626246	102626246	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr2:102626246C>A	ENST00000332549.3	+	3	519	c.290C>A	c.(289-291)cCa>cAa	p.P97Q	IL1R2_ENST00000441002.1_Missense_Mutation_p.P97Q|IL1R2_ENST00000393414.2_Missense_Mutation_p.P97Q	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	97	Ig-like C2-type 1.				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28					Anakinra(DB00026)	TGGCTTCTGCCAGCCTTGCAG	0.592000													40	157					2.24893e-16	2.27772e-16	1	1	0
OR6C2	341416	broad.mit.edu	37	12	55846163	55846163	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr12:55846163C>T	ENST00000322678.1	+	1	166	c.166C>T	c.(166-168)Cct>Tct	p.P56S	RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA	NM_054105.1	NP_473446.1	Q9NZP2	OR6C2_HUMAN	olfactory receptor, family 6, subfamily C, member 2	56					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						CCTTAAAACTCCTATGTACTT	0.378000													15	68					0	0	1	0	0
HUWE1	10075	broad.mit.edu	37	X	53576271	53576271	+	Silent	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chrX:53576271G>A	ENST00000342160.3	-	66	10141	c.9684C>T	c.(9682-9684)tcC>tcT	p.S3228S	HUWE1_ENST00000262854.6_Silent_p.S3228S			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3228					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GCTGCAAGATGGAGAGCAGAC	0.517000													30	31					0	0	1	0	0
DNM3	26052	broad.mit.edu	37	1	172001622	172001622	+	Silent	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:172001622C>T	ENST00000358155.4	+	5	846	c.670C>T	c.(670-672)Ctg>Ttg	p.L224L	DNM3_ENST00000355305.5_Silent_p.L224L|DNM3_ENST00000367733.2_Silent_p.L224L|DNM3_ENST00000520906.1_Silent_p.L224L|DNM3_ENST00000367731.1_Silent_p.L224L	NM_015569.3	NP_056384.2	Q9UQ16	DYN3_HUMAN	dynamin 3	224					endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						AGAGAACAAACTGTTGCCTCT	0.373000													10	40					0	0	1	0	0
ODF4	146852	broad.mit.edu	37	17	8248693	8248693	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr17:8248693C>T	ENST00000328248.2	+	2	675	c.487C>T	c.(487-489)Ccc>Tcc	p.P163S	ODF4_ENST00000584943.1_Missense_Mutation_p.P48S	NM_153007.4	NP_694552.2	Q2M2E3	ODFP4_HUMAN	outer dense fiber of sperm tails 4	163					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|stomach(1)	8						CATGCTATTCCCCATTAACAT	0.483000													39	138					0	0	1	0	0
ZNF485	220992	broad.mit.edu	37	10	44112358	44112358	+	Silent	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr10:44112358G>A	ENST00000361807.3	+	5	1061	c.867G>A	c.(865-867)caG>caA	p.Q289Q	ZNF485_ENST00000374435.3_Silent_p.Q289Q|ZNF485_ENST00000374437.2_Silent_p.Q198Q	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN	zinc finger protein 485	289					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						TGGAACATCAGAAAATCCATA	0.398000													4	45					0	0	1	0	0
PCDHB12	56124	broad.mit.edu	37	5	140589572	140589572	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr5:140589572G>A	ENST00000239450.2	+	1	1282	c.1093G>A	c.(1093-1095)Gtt>Att	p.V365I	PCDHB12_ENST00000541609.1_Missense_Mutation_p.V28I	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		365	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGAGACTGTGGTTATGGTTTT	0.448000													34	23					0	0	1	0	0
FAH	2184	broad.mit.edu	37	15	80450417	80450417	+	Translation_Start_Site	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr15:80450417G>A	ENST00000539156.1	+	0	2125				FAH_ENST00000407106.1_Missense_Mutation_p.G33S|FAH_ENST00000561421.1_Missense_Mutation_p.G33S|FAH_ENST00000261755.5_Missense_Mutation_p.G33S			P16930	FAAA_HUMAN	fumarylacetoacetate hydrolase (fumarylacetoacetase)						L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	fumarylacetoacetase activity|metal ion binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ACCGAGGATAGGTGTGGCCAT	0.522000									Tyrosinemia, type 1				52	67					0	0	1	0	0
PEX11A	8800	broad.mit.edu	37	15	90226942	90226942	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr15:90226942C>T	ENST00000300056.3	-	3	559	c.410G>A	c.(409-411)aGg>aAg	p.R137K	PEX11A_ENST00000561224.1_Intron|PEX11A_ENST00000561257.1_Missense_Mutation_p.R106K|PEX11A_ENST00000557982.1_Intron|PEX11A_ENST00000559170.1_3'UTR	NM_001271573.1	NP_001258502.1	O75192	PX11A_HUMAN	peroxisomal biogenesis factor 11 alpha	137					cellular lipid metabolic process|peroxisome fission|signal transduction	integral to peroxisomal membrane				endometrium(2)|large_intestine(2)|lung(3)	7	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			ATACAGATCCCTGACCAGGCT	0.502000													85	68					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228470799	228470799	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:228470799T>C	ENST00000570156.2	+	37	9912	c.9838T>C	c.(9838-9840)Tca>Cca	p.S3280P	OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000422127.1_Missense_Mutation_p.S2851P|OBSCN_ENST00000284548.11_Missense_Mutation_p.S2851P|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000359599.6_Missense_Mutation_p.S1698P	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2314	Ig-like 33.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CTGTGAGCTGTCACGGGCGGG	0.652000													3	13					0	0	1	0	0
CFHR5	81494	broad.mit.edu	37	1	196952150	196952150	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:196952150C>T	ENST00000367414.5	+	2	322	c.266C>T	c.(265-267)tCc>tTc	p.S89F	CFHR5_ENST00000256785.4_Missense_Mutation_p.S65F	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN	complement factor H-related 5	65	Sushi 2.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						CCTTCAAAATCCTTTTGGACT	0.388000													13	38					0	0	1	0	0
AGFG2	3268	broad.mit.edu	37	7	100150977	100150977	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr7:100150977C>T	ENST00000300176.4	+	4	561	c.439C>T	c.(439-441)Ccc>Tcc	p.P147S	AGFG2_ENST00000262935.4_Intron|AGFG2_ENST00000474713.1_3'UTR	NM_006076.4	NP_006067.3	O95081	AGFG2_HUMAN	ArfGAP with FG repeats 2	147	Arf-GAP.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AAGGTATGTCCCCCCAGACCA	0.522000													48	39					0	0	1	0	0
PDZD4	57595	broad.mit.edu	37	X	153070079	153070079	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chrX:153070079G>A	ENST00000164640.4	-	8	1230	c.1039C>T	c.(1039-1041)Ccg>Tcg	p.P347S	PDZD4_ENST00000393758.2_Missense_Mutation_p.P272S|PDZD4_ENST00000544474.1_Missense_Mutation_p.P238S	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	347						cell cortex				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GTGAGGCCCGGGACGTCGCCC	0.662000													25	17					0	0	1	0	0
DHX8	1659	broad.mit.edu	37	17	41598900	41598900	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr17:41598900A>G	ENST00000262415.3	+	21	3302	c.3230A>G	c.(3229-3231)gAc>gGc	p.D1077G	DHX8_ENST00000540306.1_Missense_Mutation_p.D1077G	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	1077						catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		CGGGCCCAGGACATTCGCAAG	0.483000													20	66					0	0	1	0	0
SPDYE1	285955	broad.mit.edu	37	7	44040865	44040865	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr7:44040865G>A	ENST00000258704.3	+	1	378	c.241G>A	c.(241-243)Gac>Aac	p.D81N	POLR2J4_ENST00000427076.1_RNA	NM_001099435.2|NM_175064.2	NP_001092905.2|NP_778234.2	Q8NFV5	SPDE1_HUMAN	speedy/RINGO cell cycle regulator family member E1	81										endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	11						GCACCACAAGGACTTCAACAG	0.517000													6	36					0	0	1	0	0
TMC3	342125	broad.mit.edu	37	15	81633859	81633859	+	Splice_Site	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr15:81633859C>T	ENST00000558726.1	-	16	1854	c.1718_splice	c.e16-1	p.W573_splice	RP11-761I4.3_ENST00000559781.1_RNA|RP11-761I4.3_ENST00000560973.1_RNA|TMC3_ENST00000359440.5_Splice_Site_p.W572_splice|RP11-761I4.3_ENST00000560851.1_RNA			Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	572						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						AGGCCCCCATCCTGGAACCAT	0.532000													3	12					0	0	1	0	0
CCDC173	129881	broad.mit.edu	37	2	170537668	170537668	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr2:170537668G>A	ENST00000447353.1	-	2	248	c.143C>T	c.(142-144)aCc>aTc	p.T48I		NM_001085447.1	NP_001078916.1			coiled-coil domain containing 173																		TGGAATTATGGTGACCTGCTG	0.388000													8	20					0	0	1	0	0
LMAN1L	79748	broad.mit.edu	37	15	75108595	75108595	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr15:75108595G>A	ENST00000309664.5	+	2	412	c.273G>A	c.(271-273)tgG>tgA	p.W91*	LMAN1L_ENST00000379709.3_Nonsense_Mutation_p.W91*	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	91	L-type lectin-like.					ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TCTCTGCCTGGGAAGTAGAGG	0.672000													14	16					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170009449	170009449	+	Silent	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr2:170009449C>T	ENST00000263816.3	-	67	12606	c.12321G>A	c.(12319-12321)ggG>ggA	p.G4107G		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4107					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TAGAGCCCTCCCCTCGCACAG	0.473000													33	103					0	0	1	0	0
GHR	2690	broad.mit.edu	37	5	42718612	42718612	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr5:42718612G>A	ENST00000230882.4	+	10	1193	c.1003G>A	c.(1003-1005)Gaa>Aaa	p.E335K	GHR_ENST00000537449.1_Missense_Mutation_p.E148K|GHR_ENST00000513625.1_3'UTR|GHR_ENST00000357703.3_Missense_Mutation_p.E313K	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	335					2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	CTATAAACCCGAATTCCACAG	0.368000													53	86					0	0	1	0	0
PCDHB10	56126	broad.mit.edu	37	5	140573034	140573034	+	Silent	SNP	C	C	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr5:140573034C>A	ENST00000239446.4	+	1	1093	c.909C>A	c.(907-909)ctC>ctA	p.L303L		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		303	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAATCTTTCTCAGAGAATTGC	0.373000													35	33					1.36615e-20	1.38957e-20	1	1	0
PLCL1	5334	broad.mit.edu	37	2	198950796	198950796	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr2:198950796G>A	ENST00000428675.1	+	2	2953	c.2555G>A	c.(2554-2556)gGa>gAa	p.G852E	PLCL1_ENST00000437704.2_Missense_Mutation_p.G754E	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	852					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	AATCGAAGTGGAGGAGGAAAG	0.463000													11	32					0	0	1	0	0
THBS1	7057	broad.mit.edu	37	15	39874527	39874527	+	Silent	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr15:39874527C>T	ENST00000260356.5	+	3	366	c.201C>T	c.(199-201)atC>atT	p.I67I		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	67	Heparin-binding.|TSP N-terminal.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	CCAACCTGATCCCCCCTGTGC	0.622000													29	44					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10358382	10358382	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr17:10358382C>T	ENST00000255381.2	-	21	2421	c.2311G>A	c.(2311-2313)Gct>Act	p.A771T	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	771	Actin-binding (By similarity).|Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						AGCAGGCCAGCTTTGAAGAAA	0.408000													10	48					0	0	1	0	0
HYAL2	8692	broad.mit.edu	37	3	50357173	50357173	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr3:50357173G>A	ENST00000447092.1	-	1	3040	c.748C>T	c.(748-750)Ccg>Tcg	p.P250S	HYAL2_ENST00000395139.3_Missense_Mutation_p.P250S|HYAL2_ENST00000442581.1_Missense_Mutation_p.P250S|HYAL2_ENST00000357750.4_Missense_Mutation_p.P250S			Q12891	HYAL2_HUMAN	hyaluronoglucosaminidase 2	250						anchored to membrane|lysosome|plasma membrane	hyalurononglucosaminidase activity|receptor activity			breast(1)|endometrium(2)|kidney(1)|ovary(1)|prostate(1)|skin(1)	7				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	Hyaluronidase(DB00070)	TAGACAGACGGGAAGAGGGCC	0.627000													23	25					0	0	1	0	0
ACSM2A	123876	broad.mit.edu	37	16	20476952	20476952	+	Silent	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr16:20476952C>T	ENST00000573854.1	+	3	405	c.291C>T	c.(289-291)ctC>ctT	p.L97L	ACSM2A_ENST00000396104.2_Silent_p.L97L|ACSM2A_ENST00000536134.1_5'UTR|ACSM2A_ENST00000219054.6_Silent_p.L97L|ACSM2A_ENST00000575690.1_Silent_p.L97L|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000424070.1_Silent_p.L97L|ACSM2A_ENST00000417235.2_Silent_p.L18L	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	97					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						CCAACGTCCTCTCGGGAGCCT	0.597000													13	61					0	0	1	0	0
ARPP21	10777	broad.mit.edu	37	3	35770968	35770968	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr3:35770968C>T	ENST00000187397.4	+	15	1855	c.1399C>T	c.(1399-1401)Ctt>Ttt	p.L467F	ARPP21_ENST00000417925.1_Missense_Mutation_p.L433F|ARPP21_ENST00000444190.1_Missense_Mutation_p.L413F|ARPP21_ENST00000458225.1_Missense_Mutation_p.L433F|ARPP21_ENST00000337271.5_Missense_Mutation_p.L413F	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	467						cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						CTACATCCTCCTTCCACTTGA	0.542000													26	38					0	0	1	0	0
PIAS2	9063	broad.mit.edu	37	18	44409801	44409801	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr18:44409801G>A	ENST00000585916.1	-	10	1231	c.1232C>T	c.(1231-1233)tCt>tTt	p.S411F	PIAS2_ENST00000324794.7_Missense_Mutation_p.S411F|PIAS2_ENST00000545673.1_Missense_Mutation_p.S121F	NM_004671.3	NP_004662.2	O75928	PIAS2_HUMAN	protein inhibitor of activated STAT, 2	411					androgen receptor signaling pathway|negative regulation of androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|PML body	androgen receptor binding|DNA binding|protein binding|SUMO ligase activity|transcription coactivator activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	22						ATCTACATCAGAACAGTCATT	0.348000													25	63					0	0	1	0	0
SLC22A15	55356	broad.mit.edu	37	1	116607112	116607112	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:116607112C>T	ENST00000369503.4	+	10	1478	c.1348C>T	c.(1348-1350)Ccc>Tcc	p.P450S		NM_018420.2	NP_060890.2	Q8IZD6	S22AF_HUMAN	solute carrier family 22, member 15	450					ion transport	integral to membrane	transmembrane transporter activity			endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1)	17	Lung SC(450;0.184)	all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		GATTATTGCTCCCTTCATCCC	0.403000													4	12					0	0	1	0	0
PDCD11	22984	broad.mit.edu	37	10	105184767	105184767	+	Silent	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr10:105184767G>A	ENST00000369797.3	+	20	2884	c.2790G>A	c.(2788-2790)gcG>gcA	p.A930A	PDCD11_ENST00000490787.1_3'UTR	NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	930					mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		AACACCAGGCGATTGTGCAGC	0.562000													11	45					0	0	1	0	0
REEP2	51308	broad.mit.edu	37	5	137780131	137780131	+	Silent	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr5:137780131C>T	ENST00000378339.2	+	4	402	c.210C>T	c.(208-210)atC>atT	p.I70I	REEP2_ENST00000254901.5_Silent_p.I70I|REEP2_ENST00000506158.1_Silent_p.I32I	NM_001271803.1	NP_001258732.1	Q9BRK0	REEP2_HUMAN	receptor accessory protein 2	70						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			AACTGAAGATCGCCTTCGTGA	0.592000													42	30					0	0	1	0	0
ZKSCAN2	342357	broad.mit.edu	37	16	25251997	25251997	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr16:25251997G>C	ENST00000328086.7	-	7	2847	c.2044C>G	c.(2044-2046)Cag>Gag	p.Q682E		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	682					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		GCCCTATGCTGTTCCATGTCC	0.378000													10	44					0	0	1	0	0
HDAC9	9734	broad.mit.edu	37	7	18687413	18687413	+	Silent	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr7:18687413G>A	ENST00000406451.3	+	10	1182	c.1032G>A	c.(1030-1032)tcG>tcA	p.S344S	HDAC9_ENST00000417496.2_Silent_p.S342S|HDAC9_ENST00000524023.1_Silent_p.S267S|HDAC9_ENST00000401921.1_Silent_p.S303S|HDAC9_ENST00000405010.3_Silent_p.S344S|HDAC9_ENST00000428307.2_Silent_p.S300S|HDAC9_ENST00000456174.2_Silent_p.S316S|HDAC9_ENST00000441542.2_Silent_p.S347S|HDAC9_ENST00000406072.1_Silent_p.S331S|HDAC9_ENST00000432645.2_Silent_p.S344S	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	344					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	CACAGGCTTCGAATTCACTCA	0.473000													9	10					0	0	1	0	0
ZNF442	79973	broad.mit.edu	37	19	12463893	12463893	+	Silent	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr19:12463893G>A	ENST00000242804.4	-	4	696	c.114C>T	c.(112-114)ttC>ttT	p.F38F	ZNF442_ENST00000438182.1_Intron	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	38	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						CTTCCTGGGTGAAGTTCACCG	0.463000													46	42					0	0	1	0	0
HNRNPCL1	343069	broad.mit.edu	37	1	12907539	12907539	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:12907539C>T	ENST00000317869.6	-	2	829	c.604G>A	c.(604-606)Gaa>Aaa	p.E202K		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1			heterogeneous nuclear ribonucleoprotein C-like 1											NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						TCAATTTTTTCCAGGTTTTCC	0.423000													34	63					0	0	1	0	0
SDC3	9672	broad.mit.edu	37	1	31349423	31349423	+	Silent	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:31349423G>A	ENST00000336798.7	-	1	2164	c.672C>T	c.(670-672)gcC>gcT	p.A224A	SDC3_ENST00000339394.6_Silent_p.A282A			O75056	SDC3_HUMAN	syndecan 3	282	Ser/Thr-rich (mucin-like).					integral to membrane	cytoskeletal protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)		STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649)		TGGGTCCAGGGGCAGTGGTCC	0.682000													7	25					0	0	1	0	0
TRPV5	56302	broad.mit.edu	37	7	142626174	142626174	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr7:142626174C>T	ENST00000265310.1	-	5	877	c.529G>A	c.(529-531)Gag>Aag	p.E177K	TRPV5_ENST00000442623.1_Missense_Mutation_p.E177K	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	177					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					CGCACGATCTCCTCGCTGTTC	0.617000													16	29					0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	14018856	14018856	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr12:14018856C>T	ENST00000279593.3	-	2	496	c.287G>A	c.(286-288)gGg>gAg	p.G96E		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	96					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	AAACACCACCCCCTGGATCTT	0.572000													39	74					0	0	1	0	0
EPHB2	2048	broad.mit.edu	37	1	23234655	23234655	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:23234655T>G	ENST00000400191.3	+	12	2364	c.2346T>G	c.(2344-2346)agT>agG	p.S782R	EPHB2_ENST00000374627.1_Missense_Mutation_p.S777R|EPHB2_ENST00000374630.3_Missense_Mutation_p.S782R|EPHB2_ENST00000374632.3_Missense_Mutation_p.S783R	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	782	Protein kinase.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		CCTACACCAGTGCCCTGGTAA	0.562000													13	28					0	0	1	0	0
AFF4	27125	broad.mit.edu	37	5	132232208	132232208	+	Missense_Mutation	SNP	A	A	C			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr5:132232208A>C	ENST00000265343.5	-	11	2493	c.2114T>G	c.(2113-2115)cTc>cGc	p.L705R	AFF4_ENST00000378595.3_Missense_Mutation_p.L705R	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	705					transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGGCTCACTGAGGGGTGAAAG	0.448000													39	35					0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146997262	146997262	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr7:146997262G>A	ENST00000361727.3	+	9	1894	c.1378G>A	c.(1378-1380)Gag>Aag	p.E460K		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	460	Laminin G-like 2.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ACAGTGGCACGAGGTTCGCTT	0.398000										HNSCC(39;0.1)			33	76					0	0	1	0	0
CCDC88B	283234	broad.mit.edu	37	11	64112077	64112077	+	Silent	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr11:64112077G>A	ENST00000356786.5	+	14	2108	c.2064G>A	c.(2062-2064)ggG>ggA	p.G688G	CCDC88B_ENST00000301897.4_5'UTR|CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	688					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GGCTGGAAGGGACGGTCAGGG	0.642000													12	16					0	0	1	0	0
KRT12	3859	broad.mit.edu	37	17	39023413	39023413	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr17:39023413G>A	ENST00000251643.4	-	1	49	c.26C>T	c.(25-27)tCa>tTa	p.S9L		NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN	keratin 12	9	Head.				visual perception	intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)				CACTGAGAGTGACATGGTGTT	0.562000													9	42					0	0	1	0	0
ASAH2	56624	broad.mit.edu	37	10	52008332	52008332	+	Silent	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr10:52008332C>T	ENST00000395526.3	-	1	38	c.39G>A	c.(37-39)ctG>ctA	p.L13L	ASAH2_ENST00000447815.1_Silent_p.L13L	NM_019893.2	NP_063946.2	Q9NR71	ASAH2_HUMAN	N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2	13					apoptosis|ceramide metabolic process|signal transduction	integral to membrane|mitochondrion|plasma membrane	ceramidase activity			large_intestine(1)|lung(9)|urinary_tract(1)	11						GGAGGAAAATCAGGAATGTCT	0.433000													13	25					0	0	1	0	0
ZNF716	441234	broad.mit.edu	37	7	57528865	57528865	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr7:57528865G>A	ENST00000420713.1	+	4	810	c.698G>A	c.(697-699)aGa>aAa	p.R233K		NM_001159279.1	NP_001152751.1			zinc finger protein 716											breast(1)|kidney(1)|lung(20)|ovary(2)	24						AGACATAAAAGAATTCATACT	0.378000													3	10					0	0	1	0	0
CDH20	28316	broad.mit.edu	37	18	59221637	59221637	+	Silent	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr18:59221637C>T	ENST00000262717.4	+	12	2513	c.2115C>T	c.(2113-2115)atC>atT	p.I705I	CDH20_ENST00000536675.2_Silent_p.I705I|CDH20_ENST00000538374.1_Silent_p.I705I			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	705					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)				TGCCCGAGATCGAGAGCCTCT	0.677000													20	53					0	0	1	0	0
ITGA4	3676	broad.mit.edu	37	2	182399090	182399090	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr2:182399090T>C	ENST00000397033.2	+	26	3306	c.2876T>C	c.(2875-2877)gTt>gCt	p.V959A		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	959					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	GATGAGAATGTTGCGCATGTA	0.363000													5	14					0	0	1	0	0
PLCG1	5335	broad.mit.edu	37	20	39795344	39795344	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr20:39795344C>T	ENST00000373272.2	+	19	2551	c.2146C>T	c.(2146-2148)Cgt>Tgt	p.R716C	PLCG1_ENST00000373271.1_Missense_Mutation_p.R716C|PLCG1_ENST00000244007.3_Missense_Mutation_p.R716C	NM_002660.2	NP_002651.2	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	716	SH2 2.				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				CAAGCATTGCCGTGTCCAGCA	0.552000													48	59					0	0	1	0	0
PKN2	5586	broad.mit.edu	37	1	89250336	89250336	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:89250336C>T	ENST00000370521.3	+	7	1359	c.1000C>T	c.(1000-1002)Cgt>Tgt	p.R334C	PKN2_ENST00000370505.3_Missense_Mutation_p.R177C|PKN2_ENST00000316005.7_Missense_Mutation_p.R334C|PKN2_ENST00000370513.5_Missense_Mutation_p.R334C|PKN2_ENST00000544045.1_Missense_Mutation_p.R8C	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN	protein kinase N2	334	C2.				signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		TTTGGAAGTTCGTCTTATGGG	0.398000													7	18					0	0	1	0	0
UGT3A2	167127	broad.mit.edu	37	5	36052065	36052065	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr5:36052065G>A	ENST00000282507.3	-	3	319	c.218C>T	c.(217-219)tCa>tTa	p.S73L	UGT3A2_ENST00000513300.1_Missense_Mutation_p.S39L|UGT3A2_ENST00000545528.1_5'UTR|UGT3A2_ENST00000504954.1_5'UTR	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	73						integral to membrane	glucuronosyltransferase activity	p.S73*(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AACTTGATATGATTTTTCTTC	0.299000													12	13					0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9984935	9984935	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr16:9984935C>T	ENST00000396573.2	-	5	1339	c.1030G>A	c.(1030-1032)Gat>Aat	p.D344N	GRIN2A_ENST00000396575.2_Missense_Mutation_p.D344N|GRIN2A_ENST00000330684.3_Missense_Mutation_p.D344N|GRIN2A_ENST00000404927.2_Missense_Mutation_p.D344N|GRIN2A_ENST00000535259.1_Missense_Mutation_p.D187N|GRIN2A_ENST00000562109.1_Missense_Mutation_p.D344N	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	344					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TCTTTGCCATCCCATGTAACA	0.438000													29	39					0	0	1	0	0
PLCE1	51196	broad.mit.edu	37	10	95791100	95791100	+	Silent	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr10:95791100G>A	ENST00000260766.3	+	2	931	c.297G>A	c.(295-297)gcG>gcA	p.A99A	PLCE1_ENST00000371380.2_Silent_p.A99A	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	99					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				CAGATTCTGCGAAAAACCTTA	0.388000													21	20					0	0	1	0	0
TRPV6	55503	broad.mit.edu	37	7	142572717	142572717	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr7:142572717C>T	ENST00000359396.3	-	10	1471	c.1226G>A	c.(1225-1227)aGa>aAa	p.R409K		NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	409					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					GACCCCCATTCTGAAGATGTC	0.552000													45	88					0	0	1	0	0
BAG3	9531	broad.mit.edu	37	10	121431895	121431895	+	Missense_Mutation	SNP	C	C	G	rs150379892		TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr10:121431895C>G	ENST00000369085.3	+	3	942	c.636C>G	c.(634-636)caC>caG	p.H212Q		NM_004281.3	NP_004272.2	O95817	BAG3_HUMAN	BCL2-associated athanogene 3	212					anti-apoptosis|apoptosis|protein folding	cytosol				endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(5)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	20		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)		CGGTGATACACGAGCAGAACG	0.657000													28	49					0	0	1	0	0
OR56A3	390083	broad.mit.edu	37	11	5968867	5968867	+	Silent	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr11:5968867C>T	ENST00000329564.6	+	1	298	c.291C>T	c.(289-291)agC>agT	p.S97S		NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	97					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCCCATCAGCTTCCCTGCCT	0.522000													39	112					0	0	1	0	0
GNA13	10672	broad.mit.edu	37	17	63049743	63049743	+	Silent	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr17:63049743G>A	ENST00000439174.2	-	2	632	c.387C>T	c.(385-387)gcC>gcT	p.A129A	GNA13_ENST00000541118.1_Silent_p.A34A	NM_006572.4	NP_006563.2	Q14344	GNA13_HUMAN	guanine nucleotide binding protein (G protein), alpha 13	129					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase D activity|cellular component movement|platelet activation|Rho protein signal transduction	brush border membrane|heterotrimeric G-protein complex|melanosome	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity|type 1 angiotensin receptor binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(14)|kidney(2)|large_intestine(4)|lung(6)|urinary_tract(1)	34						CTGCCATGGGGGCCCGGGTAT	0.483000													26	83					0	0	1	0	0
RUNDC1	146923	broad.mit.edu	37	17	41141501	41141501	+	Silent	SNP	T	T	G			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr17:41141501T>G	ENST00000361677.1	+	3	813	c.801T>G	c.(799-801)gtT>gtG	p.V267V		NM_173079.2	NP_775102.2	Q96C34	RUND1_HUMAN	RUN domain containing 1	267										breast(1)|large_intestine(2)|lung(4)|prostate(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		AACAGTTGGTTGAGCAACTGA	0.493000													15	28					0	0	1	0	0
GRIN3A	116443	broad.mit.edu	37	9	104448931	104448931	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr9:104448931C>T	ENST00000361820.3	-	2	1851	c.1251G>A	c.(1249-1251)atG>atA	p.M417I		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	417					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	CCATGCAGTTCATCGTGCTGG	0.473000													45	53					0	0	1	0	0
AOC1	26	broad.mit.edu	37	7	150554921	150554921	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr7:150554921A>G	ENST00000493429.1	+	4	1947	c.1363A>G	c.(1363-1365)Act>Gct	p.T455A	AOC1_ENST00000416793.2_Missense_Mutation_p.T455A|AOC1_ENST00000467291.1_Missense_Mutation_p.T455A|AOC1_ENST00000360937.4_Missense_Mutation_p.T455A					amine oxidase, copper containing 1																		GCTGCGGACAACTTCAACTGT	0.537000													32	82					0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	14018855	14018855	+	Silent	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr12:14018855C>T	ENST00000279593.3	-	2	497	c.288G>A	c.(286-288)ggG>ggA	p.G96G		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	96					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CAAACACCACCCCCTGGATCT	0.572000													39	75					0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36898459	36898459	+	Silent	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr3:36898459G>A	ENST00000301807.6	-	12	2869	c.972C>T	c.(970-972)atC>atT	p.I324I	TRANK1_ENST00000429976.2_Silent_p.I874I|TRANK1_ENST00000428977.2_Silent_p.I324I	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	874					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CCGTGGCAATGATCTTCTCAG	0.532000													10	6					0	0	1	0	0
GLYATL2	219970	broad.mit.edu	37	11	58602238	58602238	+	Silent	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr11:58602238C>T	ENST00000287275.1	-	6	939	c.549G>A	c.(547-549)ggG>ggA	p.G183G	GLYATL2_ENST00000533636.1_5'UTR|GLYATL2_ENST00000532258.1_Silent_p.G183G	NM_145016.3	NP_659453.3	Q8WU03	GLYL2_HUMAN	glycine-N-acyltransferase-like 2	183						mitochondrion	glycine N-acyltransferase activity			breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	TCTCATTTTTCCCAAAGGCCC	0.418000													11	19					0	0	1	0	0
OLR1	4973	broad.mit.edu	37	12	10321708	10321708	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr12:10321708C>T	ENST00000309539.3	-	2	203	c.143G>A	c.(142-144)gGa>gAa	p.G48E	OLR1_ENST00000545927.1_Missense_Mutation_p.G48E|OLR1_ENST00000544577.1_Missense_Mutation_p.G48E|OLR1_ENST00000432556.2_Missense_Mutation_p.G48E	NM_002543.3	NP_002534.1	P78380	OLR1_HUMAN	oxidized low density lipoprotein (lectin-like) receptor 1	48					blood circulation|blood coagulation|inflammatory response|leukocyte migration|proteolysis	extracellular region|integral to plasma membrane|membrane fraction	sugar binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	10						CACTACTAATCCCAGGCAAAG	0.453000													14	29					0	0	1	0	0
NOTUM	147111	broad.mit.edu	37	17	79914800	79914800	+	Silent	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr17:79914800C>T	ENST00000409678.3	-	7	1229	c.846G>A	c.(844-846)acG>acA	p.T282T		NM_178493.5	NP_848588.3	Q6P988	NOTUM_HUMAN	notum pectinacetylesterase homolog (Drosophila)	282						extracellular region	hydrolase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	15	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			CGCACGTGATCGTGTCGACGC	0.672000													8	35					0	0	1	0	0
DLGAP2	9228	broad.mit.edu	37	8	1649497	1649497	+	Silent	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr8:1649497C>T	ENST00000421627.2	+	12	2987	c.2853C>T	c.(2851-2853)tcC>tcT	p.S951S		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	1030					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		GAGCGGCGTCCTTCCGGCAGA	0.667000													7	19					0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48797260	48797260	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr15:48797260G>A	ENST00000316623.5	-	16	2377	c.1922C>T	c.(1921-1923)cCt>cTt	p.P641L		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	641	EGF-like 10; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		AGCCAGTCCAGGGAAGCATTC	0.507000													26	94					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152282908	152282908	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:152282908C>T	ENST00000368799.1	-	3	4489	c.4454G>A	c.(4453-4455)gGt>gAt	p.G1485D	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1485	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGTGTCCTGACCGTCTTGGGA	0.577000									Ichthyosis				108	316					0	0	1	0	0
CES1	1066	broad.mit.edu	37	16	55844493	55844493	+	Silent	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr16:55844493G>A	ENST00000422046.2	-	11	1529	c.1248C>T	c.(1246-1248)ttC>ttT	p.F416F	CES1_ENST00000360526.3_Silent_p.F418F|CES1_ENST00000361503.4_Silent_p.F417F			P23141	EST1_HUMAN	carboxylesterase 1	417					response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity								all cancers(182;0.13)|Epithelial(162;0.137)	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)	TCAAGTCCAGGAACAGGTCTT	0.473000													19	87					0	0	1	0	0
WAS	7454	broad.mit.edu	37	X	48545242	48545242	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chrX:48545242G>A	ENST00000376701.4	+	7	707	c.632G>A	c.(631-633)cGa>cAa	p.R211Q	WAS_ENST00000483750.1_3'UTR	NM_000377.2	NP_000368.1	P42768	WASP_HUMAN	Wiskott-Aldrich syndrome	211					blood coagulation|defense response|epidermis development|immune response|T cell receptor signaling pathway	actin cytoskeleton|cytosol	identical protein binding|small GTPase regulator activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(315;1.27e-10)				ACGAGTTCACGATACCGTGGG	0.572000			"""Mis, N, F, S"""			lymphoma							19	16					0	0	1	0	0
PXK	54899	broad.mit.edu	37	3	58385103	58385103	+	Splice_Site	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr3:58385103C>T	ENST00000463280.1	+	10	1172	c.1082_splice	c.e10+1	p.P361_splice	PXK_ENST00000383716.3_Splice_Site_p.P361_splice|PXK_ENST00000356151.2_Splice_Site_p.P394_splice|PXK_ENST00000302779.5_Splice_Site_p.P377_splice|PXK_ENST00000383715.4_Splice_Site_p.P377_splice|PXK_ENST00000484288.1_Splice_Site_p.P394_splice|PXK_ENST00000536660.1_Splice_Site_p.P257_splice|PXK_ENST00000479241.1_Splice_Site_p.P377_splice			Q7Z7A4	PXK_HUMAN	PX domain containing serine/threonine kinase	394	Protein kinase.				cell communication|inflammatory response|negative regulation of ATPase activity|negative regulation of ion transport|regulation of synaptic transmission	centrosome|cytoplasm|nucleus|plasma membrane	actin binding|ATP binding|phosphatidylinositol binding|protein C-terminus binding|protein kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)		CTTACAGATGCCGTAAGTCAA	0.448000													6	17					0	0	1	0	0
TOP3B	8940	broad.mit.edu	37	22	22317153	22317153	+	Silent	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr22:22317153G>A	ENST00000398793.2	-	12	1751	c.1317C>T	c.(1315-1317)ctC>ctT	p.L439L	TOP3B_ENST00000357179.5_Silent_p.L439L|TOP3B_ENST00000413067.2_Silent_p.L168L	NM_003935.3	NP_003926.1	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta	439					DNA topological change	nucleus	ATP binding|DNA topoisomerase type I activity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		AGCAGGTGAAGAGCTCGGGCC	0.572000													41	51					0	0	1	0	0
EIF4G3	8672	broad.mit.edu	37	1	21212828	21212828	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:21212828G>A	ENST00000602326.1	-	17	2723	c.2140C>T	c.(2140-2142)Caa>Taa	p.Q714*	EIF4G3_ENST00000374935.3_Nonsense_Mutation_p.Q428*|EIF4G3_ENST00000374937.3_Nonsense_Mutation_p.Q714*|EIF4G3_ENST00000537738.1_Nonsense_Mutation_p.Q198*|EIF4G3_ENST00000264211.8_Nonsense_Mutation_p.Q708*|EIF4G3_ENST00000536266.1_Nonsense_Mutation_p.Q312*|EIF4G3_ENST00000400422.1_Nonsense_Mutation_p.Q708*	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	708	eIF3/EIF4A-binding (By similarity).				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		TCTCTTCTTTGGCCAGGTTGA	0.403000													25	79					0	0	1	0	0
TUT1	64852	broad.mit.edu	37	11	62359052	62359052	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr11:62359052G>A	ENST00000308436.7	-	1	57	c.20C>T	c.(19-21)tCg>tTg	p.S7L	TUT1_ENST00000476907.1_5'UTR	NM_022830.2	NP_073741.2	Q9H6E5	STPAP_HUMAN	terminal uridylyl transferase 1, U6 snRNA-specific	0					mRNA cleavage|mRNA polyadenylation|snRNA processing	nuclear speck|nucleolus	ATP binding|enzyme binding|mRNA 3'-UTR binding|polynucleotide adenylyltransferase activity|RNA uridylyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						AACTTCCGCCGATCCGATAGG	0.562000													6	10					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137814374	137814374	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr2:137814374C>T	ENST00000409968.1	+	3	702	c.524C>T	c.(523-525)cCt>cTt	p.P175L	THSD7B_ENST00000272643.3_Missense_Mutation_p.P175L|THSD7B_ENST00000543459.1_Missense_Mutation_p.P34L|THSD7B_ENST00000413152.2_Missense_Mutation_p.P144L					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TGCCTCATTCCTTGTCCCCGG	0.493000													25	123					0	0	1	0	0
SNX29P2	440352	broad.mit.edu	37	16	29370523	29370523	+	RNA	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr16:29370523C>T	ENST00000398878.3	+	0	1115				SNX29P2_ENST00000507381.1_RNA																							AATGGAATTTCCTGGTTAATG	0.438000													5	22					0	0	1	0	0
HOXB8	3218	broad.mit.edu	37	17	46692052	46692052	+	Silent	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr17:46692052G>A	ENST00000239144.4	-	1	249	c.15C>T	c.(13-15)ttC>ttT	p.F5F	HOXB8_ENST00000576562.1_Silent_p.F5F|HOXB7_ENST00000567101.1_Intron	NM_024016.3	NP_076921.1	P17481	HXB8_HUMAN	homeobox B8	5						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(8)|urinary_tract(2)	11						GTGAGTTGACGAAATAAGAGC	0.597000													3	19					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179595694	179595694	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr2:179595694C>T	ENST00000589042.1	-	60	17922	c.17698G>A	c.(17698-17700)Gat>Aat	p.D5900N	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.D5583N|TTN_ENST00000342992.6_Missense_Mutation_p.D4656N|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5583	Ig-like 40.						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)			CTCCCAACATCATTTTGGACC	0.373000													28	108					0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24762685	24762685	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr10:24762685C>T	ENST00000376451.2	+	2	789	c.529C>T	c.(529-531)Ccg>Tcg	p.P177S	KIAA1217_ENST00000376452.3_Missense_Mutation_p.P459S|KIAA1217_ENST00000458595.1_Missense_Mutation_p.P459S|KIAA1217_ENST00000396446.1_Missense_Mutation_p.P177S|KIAA1217_ENST00000307544.6_Missense_Mutation_p.P177S|KIAA1217_ENST00000376454.3_Missense_Mutation_p.P459S|KIAA1217_ENST00000396445.1_Missense_Mutation_p.P177S|KIAA1217_ENST00000376462.1_Missense_Mutation_p.P379S|KIAA1217_ENST00000430453.2_Missense_Mutation_p.P380S			Q5T5P2	SKT_HUMAN	KIAA1217	459					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						AAGGAAATATCCGGATAGCCA	0.502000													12	66					0	0	1	0	0
RUNDC3B	154661	broad.mit.edu	37	7	87407148	87407148	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr7:87407148A>T	ENST00000338056.3	+	9	1295	c.884A>T	c.(883-885)aAc>aTc	p.N295I	RUNDC3B_ENST00000493037.1_Missense_Mutation_p.N278I|RUNDC3B_ENST00000394654.3_Missense_Mutation_p.N278I	NM_001134405.1|NM_138290.2	NP_001127877.1|NP_612147.1	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B	295										breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26	Esophageal squamous(14;0.00164)					CTTCGAGAGAACCAACTATCT	0.348000													8	12					0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19518734	19518734	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:19518734G>A	ENST00000375267.2	-	11	1345	c.1342C>T	c.(1342-1344)Ctt>Ttt	p.L448F	UBR4_ENST00000375217.2_Missense_Mutation_p.L448F|UBR4_ENST00000375226.2_Missense_Mutation_p.L448F|UBR4_ENST00000375254.3_Missense_Mutation_p.L448F			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	448					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GTACGAGAAAGGATGTCTCTG	0.463000													17	45					0	0	1	0	0
UGT1A7	54577	broad.mit.edu	37	2	234590986	234590986	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr2:234590986G>A	ENST00000373426.3	+	1	403	c.403G>A	c.(403-405)Gaa>Aaa	p.E135K	UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Intron	NM_019077.2	NP_061950.2														NS(1)|endometrium(6)|kidney(5)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|prostate(1)|skin(1)	33		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746)		AAAATTAGTAGAATACTTAAA	0.353000													21	107					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49425896	49425896	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr12:49425896G>C	ENST00000301067.7	-	39	12591	c.12592C>G	c.(12592-12594)Cga>Gga	p.R4198G		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		AGCTGTGCTCGAAGCTGACCC	0.587000													29	39					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	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				20	43					0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70974845	70974845	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr12:70974845G>A	ENST00000334414.6	-	10	2593	c.2549C>T	c.(2548-2550)tCc>tTc	p.S850F	PTPRB_ENST00000538708.1_Missense_Mutation_p.S632F|PTPRB_ENST00000551525.1_Missense_Mutation_p.S849F|PTPRB_ENST00000261266.5_Missense_Mutation_p.S632F|PTPRB_ENST00000550358.1_Missense_Mutation_p.S850F|PTPRB_ENST00000451516.2_Missense_Mutation_p.S542F|PTPRB_ENST00000550857.1_Missense_Mutation_p.S542F	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	632	Fibronectin type-III 10.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CACTTGTCGGGAAGAGATCCC	0.473000													10	51					0	0	1	0	0
GRN	2896	broad.mit.edu	37	17	42427595	42427595	+	Splice_Site	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr17:42427595G>A	ENST00000053867.3	+	5	411		c.e5-1		GRN_ENST00000589265.1_Splice_Site	NM_002087.2	NP_002078.1	P28799	GRN_HUMAN	granulin						signal transduction	extracellular space	cytokine activity|growth factor activity			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CTTGTCCACAGGTAACAACTC	0.592000													23	70					0	0	1	0	0
CHGB	1114	broad.mit.edu	37	20	5903592	5903592	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr20:5903592G>A	ENST00000378961.4	+	4	1006	c.802G>A	c.(802-804)Gaa>Aaa	p.E268K		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	268						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						GGAAGGTGAGGAAGATGCCAC	0.607000													9	20					0	0	1	0	0
PTPRR	5801	broad.mit.edu	37	12	71139691	71139691	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr12:71139691G>A	ENST00000283228.2	-	6	1366	c.914C>T	c.(913-915)cCt>cTt	p.P305L	PTPRR_ENST00000549308.1_Missense_Mutation_p.P60L|PTPRR_ENST00000440835.2_Missense_Mutation_p.P60L|PTPRR_ENST00000342084.4_Missense_Mutation_p.P193L|PTPRR_ENST00000378778.1_Missense_Mutation_p.P99L	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	305					in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		TCGGCCTTGAGGGTCCACGAC	0.532000													8	34					0	0	1	0	0
SLC27A6	28965	broad.mit.edu	37	5	128302094	128302094	+	Silent	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr5:128302094G>A	ENST00000262462.4	+	1	1274	c.264G>A	c.(262-264)agG>agA	p.R88R	SLC27A6_ENST00000395266.1_Silent_p.R88R|SLC27A6_ENST00000506176.1_Silent_p.R88R			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	88					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		TAGACAAAAGGAGCAGCAGAG	0.488000													30	26					0	0	1	0	0
AGAP11	119385	broad.mit.edu	37	10	88768593	88768593	+	RNA	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr10:88768593C>T	ENST00000444431.1	+	0	3193				RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.5_ENST00000433214.2_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										GCACCCATCTCCAGCTCTAAA	0.493000													63	75					0	0	1	0	0
KDM2B	84678	broad.mit.edu	37	12	121958818	121958818	+	Silent	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr12:121958818C>T	ENST00000377069.4	-	9	1330	c.924G>A	c.(922-924)ctG>ctA	p.L308L	KDM2B_ENST00000377071.4_Silent_p.L339L|KDM2B_ENST00000536437.1_Silent_p.L222L|KDM2B_ENST00000538046.2_Intron|KDM2B_ENST00000543852.1_Silent_p.L108L	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	339	JmjC.				embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						CGTAGATCCGCAGCTGCATGG	0.622000													12	34					0	0	1	0	0
OR52E6	390078	broad.mit.edu	37	11	5862614	5862614	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr11:5862614C>T	ENST00000329322.5	-	1	513	c.514G>A	c.(514-516)Gga>Aga	p.G172R	TRIM5_ENST00000380027.1_Intron|OR52E6_ENST00000379946.2_Missense_Mutation_p.G176R	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E, member 6	172					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATACGATGTCCACAGAAGGGC	0.488000													20	62					0	0	1	0	0
SHBG	6462	broad.mit.edu	37	17	7535020	7535020	+	Silent	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr17:7535020C>T	ENST00000380450.4	+	5	700	c.669C>T	c.(667-669)ccC>ccT	p.P223P	SHBG_ENST00000416273.3_Silent_p.P223P|SHBG_ENST00000570547.1_Silent_p.P165P|SHBG_ENST00000575314.1_Silent_p.P165P|SHBG_ENST00000441599.2_Silent_p.P223P|SHBG_ENST00000576478.1_Silent_p.P111P|SHBG_ENST00000576728.1_Silent_p.P111P|SHBG_ENST00000575903.1_Silent_p.P205P|SHBG_ENST00000340624.5_Silent_p.P165P|SHBG_ENST00000574539.1_Silent_p.P165P|SHBG_ENST00000572182.1_Intron|SHBG_ENST00000572262.1_Silent_p.P111P	NM_001040.3	NP_001031.2	P04278	SHBG_HUMAN	sex hormone-binding globulin	223					hormone transport	extracellular region	androgen binding|protein homodimerization activity	p.0?(1)|p.?(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_cancers(10;0.0867)		READ - Rectum adenocarcinoma(115;0.168)	Danazol(DB01406)|Dromostanolone(DB00858)|Estradiol(DB00783)|Estrone(DB00655)|Fluoxymesterone(DB01185)|Hydrocortisone(DB00741)|Mitotane(DB00648)|Norethindrone(DB00717)|Testosterone(DB00624)	AATCAAATCCCGGGATATTTC	0.557000													51	179					0	0	1	0	0
SERPINA10	51156	broad.mit.edu	37	14	94756279	94756279	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr14:94756279G>A	ENST00000554723.1	-	2	1190	c.772C>T	c.(772-774)Ccc>Tcc	p.P258S	SERPINA10_ENST00000554173.1_Missense_Mutation_p.P218S|SERPINA10_ENST00000393096.1_Missense_Mutation_p.P218S|SERPINA10_ENST00000261994.4_Missense_Mutation_p.P218S			Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	218					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		AACAGTTTGGGAATTTTCCCC	0.393000													17	45					0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78400986	78400986	+	Silent	SNP	T	T	C			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr12:78400986T>C	ENST00000397909.2	+	8	1841	c.1668T>C	c.(1666-1668)acT>acC	p.T556T	NAV3_ENST00000228327.6_Silent_p.T556T|NAV3_ENST00000266692.7_Silent_p.T556T|NAV3_ENST00000536525.2_Silent_p.T556T			Q8IVL0	NAV3_HUMAN	neuron navigator 3	556						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						AATTCAGGACTACCAAGGGGA	0.488000										HNSCC(70;0.22)			12	39					0	0	1	0	0
GCG	2641	broad.mit.edu	37	2	163002098	163002098	+	Missense_Mutation	SNP	G	G	A	rs5650		TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr2:163002098G>A	ENST00000418842.2	-	4	598	c.344C>T	c.(343-345)gCt>gTt	p.A115V	GCG_ENST00000375497.3_Missense_Mutation_p.A115V	NM_002054.4	NP_002045.1	P01275	GLUC_HUMAN	glucagon	115			A -> V (in dbSNP:rs5650).		cell proliferation|cellular response to glucagon stimulus|energy reserve metabolic process|feeding behavior|regulation of insulin secretion	plasma membrane|soluble fraction	hormone activity			breast(1)|central_nervous_system(1)|large_intestine(3)|lung(9)	14					Exenatide(DB01276)|Phentolamine(DB00692)	TTCCTTGGCAGCTTGGCCTTC	0.408000													20	64					0	0	1	0	0
ECI2	10455	broad.mit.edu	37	6	4119470	4119470	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr6:4119470G>A	ENST00000465828.1	-	8	1030	c.745C>T	c.(745-747)Ccg>Tcg	p.P249S	ECI2_ENST00000380125.2_Missense_Mutation_p.P249S|C6orf201_ENST00000380175.4_Intron|C6orf201_ENST00000333388.5_Intron|ECI2_ENST00000413766.2_Missense_Mutation_p.P112S|ECI2_ENST00000380118.3_Missense_Mutation_p.P279S|ECI2_ENST00000361538.2_Missense_Mutation_p.P249S|C6orf201_ENST00000430835.2_Intron			O75521	ECI2_HUMAN	enoyl-CoA delta isomerase 2	279	ECH-like.				fatty acid metabolic process	mitochondrion|peroxisomal matrix	dodecenoyl-CoA delta-isomerase activity|fatty-acyl-CoA binding			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	11						CATCCTTCCGGACTTTGGCCT	0.358000													22	26					0	0	1	0	0
BIN2	51411	broad.mit.edu	37	12	51717848	51717848	+	Silent	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr12:51717848G>A	ENST00000267012.4	-	1	100	c.39C>T	c.(37-39)ttC>ttT	p.F13F	BIN2_ENST00000452142.2_Silent_p.F13F|BIN2_ENST00000544402.1_Intron|BIN2_ENST00000603260.1_5'UTR|BIN2_ENST00000604560.1_Silent_p.F13F	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN	bridging integrator 2	13						cytoplasm	protein binding			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						CCTGCTTGGCGAAGAGGCCGG	0.716000													13	80					0	0	1	0	0
DLGAP4	22839	broad.mit.edu	37	20	35060416	35060416	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr20:35060416G>A	ENST00000373913.3	+	3	776	c.296G>A	c.(295-297)cGg>cAg	p.R99Q	DLGAP4_ENST00000339266.5_Missense_Mutation_p.R99Q|DLGAP4_ENST00000373907.2_Missense_Mutation_p.R99Q|DLGAP4_ENST00000401952.2_Missense_Mutation_p.R99Q			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	99					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				AAGATCAACCGGCTGCCCGCC	0.637000													45	83					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9077652	9077652	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr19:9077652C>T	ENST00000397910.4	-	3	9997	c.9794G>A	c.(9793-9795)gGa>gAa	p.G3265E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3266	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGATGTGGTTCCTGTGGGCAG	0.532000													56	47					0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70515756	70515756	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr14:70515756C>T	ENST00000381269.2	-	7	2888	c.2135G>A	c.(2134-2136)gGg>gAg	p.G712E	SLC8A3_ENST00000394330.2_Missense_Mutation_p.G69E|SLC8A3_ENST00000356921.2_Missense_Mutation_p.G706E|SLC8A3_ENST00000216568.7_Missense_Mutation_p.G83E|SLC8A3_ENST00000357887.3_Missense_Mutation_p.G710E|SLC8A3_ENST00000534137.1_Missense_Mutation_p.G709E|SLC8A3_ENST00000528359.1_Missense_Mutation_p.G710E|SLC8A3_ENST00000533541.1_Missense_Mutation_p.G69E	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	712					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)		ATCCTCATCCCCTGCTGAAGG	0.522000													17	30					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170177374	170177374	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr2:170177374G>A	ENST00000263816.3	-	2	385	c.100C>T	c.(100-102)Cgc>Tgc	p.R34C	LRP2_ENST00000443831.1_Missense_Mutation_p.R34C	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	34	LDL-receptor class A 1.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CTTCCACAGCGAAAATGCGCA	0.413000													14	43					0	0	1	0	0
DSG4	147409	broad.mit.edu	37	18	28968854	28968854	+	Silent	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr18:28968854G>A	ENST00000359747.4	+	5	419	c.390G>A	c.(388-390)ctG>ctA	p.L130L	RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000308128.4_Silent_p.L130L|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	130	Cadherin 1.		Missing (in LAH1).		homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GCCGGGCTCTGAATTCACGGG	0.378000													16	44					0	0	1	0	0
INHA	3623	broad.mit.edu	37	2	220440068	220440068	+	Silent	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr2:220440068C>T	ENST00000243786.2	+	2	1101	c.921C>T	c.(919-921)gtC>gtT	p.V307V		NM_002191.3	NP_002182.1	P05111	INHA_HUMAN	inhibin, alpha	307					cell cycle arrest|cell surface receptor linked signaling pathway|cell-cell signaling|erythrocyte differentiation|hemoglobin biosynthetic process|induction of apoptosis|negative regulation of B cell differentiation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|regulation of cell proliferation|response to external stimulus|skeletal system development	inhibin A complex|inhibin-betaglycan-ActRII complex	cytokine activity|growth factor activity|hormone activity|signal transducer activity			large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10		Renal(207;0.0183)		Epithelial(149;4.58e-07)|all cancers(144;4.31e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		CCCTTCCAGTCCCTGGGGCTC	0.632000													34	106					0	0	1	0	0
KPNA3	3839	broad.mit.edu	37	13	50296168	50296168	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr13:50296168G>A	ENST00000261667.3	-	9	1063	c.649C>T	c.(649-651)Ctt>Ttt	p.L217F		NM_002267.3	NP_002258.2	O00505	IMA3_HUMAN	karyopherin alpha 3 (importin alpha 4)	217	NLS binding site (major) (By similarity).				interspecies interaction between organisms|NLS-bearing substrate import into nucleus|protein complex assembly	cytoplasm|nuclear pore	nuclear localization sequence binding|protein transporter activity			cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(4)	21		Lung NSC(96;2.46e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.42e-09)		ACGTTCCGAAGGAAGGTGATG	0.478000													35	52					0	0	1	0	0
L3MBTL4	91133	broad.mit.edu	37	18	5969486	5969486	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr18:5969486C>T	ENST00000284898.6	-	18	1747	c.1547G>A	c.(1546-1548)cGg>cAg	p.R516Q	L3MBTL4_ENST00000400105.2_Missense_Mutation_p.R516Q|L3MBTL4_ENST00000535782.1_Missense_Mutation_p.R320Q|L3MBTL4_ENST00000317931.7_Missense_Mutation_p.R507Q	NM_173464.3	NP_775735.2	Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	516					chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				GGGAAGGTCCCGAAAAGGGTG	0.607000													15	58					0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70634927	70634927	+	Silent	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr14:70634927C>T	ENST00000381269.2	-	2	966	c.213G>A	c.(211-213)ggG>ggA	p.G71G	SLC8A3_ENST00000356921.2_Silent_p.G71G|SLC8A3_ENST00000357887.3_Silent_p.G71G|SLC8A3_ENST00000534137.1_Silent_p.G71G|SLC8A3_ENST00000528359.1_Silent_p.G71G	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	71					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	p.G71G(2)		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)		CAATCTTGTCCCCAAGGGAAG	0.517000													16	23					0	0	1	0	0
OSBPL7	114881	broad.mit.edu	37	17	45894686	45894686	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr17:45894686C>T	ENST00000007414.3	-	8	829	c.638G>A	c.(637-639)aGg>aAg	p.R213K	OSBPL7_ENST00000392507.3_Missense_Mutation_p.R213K	NM_145798.2	NP_665741.1	Q9BZF2	OSBL7_HUMAN	oxysterol binding protein-like 7	213					lipid transport		lipid binding			autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						CTGGAGGAGCCTGTGTAGTTC	0.532000													6	31					0	0	1	0	0
TRPC4	7223	broad.mit.edu	37	13	38266255	38266255	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr13:38266255G>A	ENST00000379705.3	-	4	1972	c.1115C>T	c.(1114-1116)tCc>tTc	p.S372F	TRPC4_ENST00000355779.2_Missense_Mutation_p.S372F|TRPC4_ENST00000379673.2_Missense_Mutation_p.S372F|TRPC4_ENST00000379681.3_Missense_Mutation_p.S372F|TRPC4_ENST00000447043.1_Missense_Mutation_p.S372F|TRPC4_ENST00000338947.5_Missense_Mutation_p.S199F|TRPC4_ENST00000379679.1_Missense_Mutation_p.S199F|TRPC4_ENST00000426868.2_Missense_Mutation_p.S372F|TRPC4_ENST00000358477.2_Missense_Mutation_p.S372F			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	372					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		AGTCAAATAGGAGGCTGTGTG	0.488000													18	41					0	0	1	0	0
FMO2	2327	broad.mit.edu	37	1	171168578	171168578	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:171168578G>A	ENST00000441535.1	+	5	695	c.578G>A	c.(577-579)gGa>gAa	p.G193E	FMO2_ENST00000529935.1_Intron|RP1-127D3.4_ENST00000445909.1_RNA|FMO2_ENST00000209929.7_Missense_Mutation_p.G193E|RP1-45C12.1_ENST00000455124.1_RNA|RP1-127D3.4_ENST00000445290.1_RNA|RP1-127D3.4_ENST00000422841.1_RNA	NM_001460.2	NP_001451.1	Q99518	FMO2_HUMAN	flavin containing monooxygenase 2 (non-functional)	193					drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ATTGGAATGGGAAACTCAGGC	0.493000													10	46					0	0	1	0	0
FOSL2	2355	broad.mit.edu	37	2	28627122	28627122	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr2:28627122C>A	ENST00000264716.4	+	2	1114	c.251C>A	c.(250-252)cCc>cAc	p.P84H	FOSL2_ENST00000460736.1_3'UTR|FOSL2_ENST00000545753.1_Missense_Mutation_p.P45H|FOSL2_ENST00000379619.1_Missense_Mutation_p.P59H	NM_005253.3	NP_005244.1	P15408	FOSL2_HUMAN	FOS-like antigen 2	84					cell death|regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)					CCCTACAGCCCCCTGCCGGGC	0.637000													29	101					2.65835e-16	2.68855e-16	1	1	0
TTC3	7267	broad.mit.edu	37	21	38467671	38467671	+	Nonsense_Mutation	SNP	A	A	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr21:38467671A>T	ENST00000399017.2	+	9	3456	c.709A>T	c.(709-711)Aaa>Taa	p.K237*	TTC3_ENST00000399010.1_Nonsense_Mutation_p.K237*|TTC3_ENST00000355666.1_Nonsense_Mutation_p.K237*|TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000354749.2_Nonsense_Mutation_p.K237*|TTC3_ENST00000540756.1_Intron	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	237					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				AATGAAAATGAAAGGAAATGA	0.343000													5	25					0	0	1	0	0
DYNC1I1	1780	broad.mit.edu	37	7	95442563	95442563	+	Silent	SNP	A	A	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr7:95442563A>T	ENST00000324972.6	+	4	472	c.279A>T	c.(277-279)ccA>ccT	p.P93P	DYNC1I1_ENST00000359388.4_Silent_p.P76P|DYNC1I1_ENST00000447467.2_Silent_p.P76P|DYNC1I1_ENST00000437599.1_Silent_p.P93P|DYNC1I1_ENST00000537881.1_Silent_p.P76P|DYNC1I1_ENST00000413338.1_Silent_p.P76P|DYNC1I1_ENST00000457059.1_Silent_p.P76P	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	93	Interaction with DCTN1 (By similarity).				vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			ATTTAGTCCCAACCCCTATGT	0.468000													36	40					0	0	1	0	0
GABRG1	2565	broad.mit.edu	37	4	46060239	46060239	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr4:46060239G>A	ENST00000295452.4	-	7	1078	c.911C>T	c.(910-912)tCg>tTg	p.S304L		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	304					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		CATACCCAACGATGTTCTTGC	0.323000													19	29					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77616651	77616651	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr8:77616651G>A	ENST00000521891.2	+	2	776	c.328G>A	c.(328-330)Gat>Aat	p.D110N	ZFHX4_ENST00000455469.2_Missense_Mutation_p.D110N|ZFHX4_ENST00000050961.6_Missense_Mutation_p.D110N|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Missense_Mutation_p.D110N	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	110						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TGTCCTGAAGGATGACAACGA	0.478000										HNSCC(33;0.089)			63	75					0	0	1	0	0
FAM213A	84293	broad.mit.edu	37	10	82185723	82185723	+	Silent	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr10:82185723C>T	ENST00000372181.1	+	3	842	c.372C>T	c.(370-372)ttC>ttT	p.F124F	FAM213A_ENST00000372187.5_Silent_p.F124F|FAM213A_ENST00000372188.1_Silent_p.F124F|FAM213A_ENST00000372185.1_Silent_p.F113F	NM_001243778.1|NM_001243782.1	NP_001230707.1|NP_001230711.1	Q9BRX8	CJ058_HUMAN	family with sequence similarity 213, member A	124						extracellular region											TGAAGGATTTCCAGCCTTATT	0.498000													45	55					0	0	1	0	0
C8A	731	broad.mit.edu	37	1	57351605	57351605	+	Silent	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:57351605C>T	ENST00000361249.3	+	7	957	c.861C>T	c.(859-861)ttC>ttT	p.F287F		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	287	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						GGCAGAAATTCATTTTCACAA	0.398000													12	32					0	0	1	0	0
ZNF750	79755	broad.mit.edu	37	17	80789646	80789646	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr17:80789646C>T	ENST00000269394.3	-	2	1518	c.685G>A	c.(685-687)Ggg>Agg	p.G229R	TBCD_ENST00000397466.2_Intron|ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000539345.2_Intron|TBCD_ENST00000355528.4_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	229						intracellular	zinc ion binding			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GAAATGGCCCCAAGCCCCTTT	0.562000													18	49					0	0	1	0	0
ABCA3	21	broad.mit.edu	37	16	2376171	2376171	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr16:2376171G>C	ENST00000301732.5	-	5	859	c.159C>G	c.(157-159)aaC>aaG	p.N53K	ABCA3_ENST00000382381.3_Missense_Mutation_p.N53K|ABCA3_ENST00000567910.1_Missense_Mutation_p.N53K	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	53					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				AGATGGTGGCGTTGGGCACAT	0.572000													28	56					0	0	1	0	0
PSG9	5678	broad.mit.edu	37	19	43773551	43773551	+	Silent	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr19:43773551C>T	ENST00000244293.7	-	1	99	c.33G>A	c.(31-33)caG>caA	p.Q11Q	PSG9_ENST00000291752.5_Silent_p.Q11Q|PSG9_ENST00000596730.1_Silent_p.Q11Q|PSG9_ENST00000270077.3_Silent_p.Q11Q|PSG9_ENST00000593948.1_Silent_p.Q11Q|PSG9_ENST00000443718.3_Silent_p.Q11Q|PSG9_ENST00000418820.2_Silent_p.Q11Q			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	11					female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				AGGTGATGCGCTGTGTGCAGG	0.622000													26	74					0	0	1	0	0
ADCY3	109	broad.mit.edu	37	2	25059846	25059846	+	Silent	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr2:25059846G>A	ENST00000260600.5	-	8	2453	c.1602C>T	c.(1600-1602)ccC>ccT	p.P534P	ADCY3_ENST00000405392.1_Silent_p.P167P	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	534					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|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					CACTCCCGTTGGGCTCCTTGG	0.632000													6	31					0	0	1	0	0
CRNN	49860	broad.mit.edu	37	1	152383101	152383101	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:152383101G>A	ENST00000271835.3	-	3	519	c.457C>T	c.(457-459)Cag>Tag	p.Q153*	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	153	Gln-rich.				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCTGGGTCTGAACCCCAGGC	0.602000													49	184					0	0	1	0	0
CPA5	93979	broad.mit.edu	37	7	130007358	130007358	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr7:130007358G>A	ENST00000485477.1	+	10	2113	c.984G>A	c.(982-984)atG>atA	p.M328I	CPA5_ENST00000355388.3_Missense_Mutation_p.M328I|CPA5_ENST00000393213.3_Missense_Mutation_p.M328I|CPA5_ENST00000474905.1_Missense_Mutation_p.M328I|CPA5_ENST00000466363.2_Missense_Mutation_p.M328I|CPA5_ENST00000461828.1_Missense_Mutation_p.M328I|CPA5_ENST00000431780.2_Missense_Mutation_p.M328I			Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5	328					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					ACTCTCAGATGCTTATGTACC	0.562000													23	91					0	0	1	0	0
TFF1	7031	broad.mit.edu	37	21	43786529	43786529	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr21:43786529C>T	ENST00000291527.2	-	1	174	c.76G>A	c.(76-78)Gcc>Acc	p.A26T		NM_003225.2	NP_003216.1	P04155	TFF1_HUMAN	trefoil factor 1	26					carbohydrate metabolic process|response to estradiol stimulus		growth factor activity			cervix(1)|lung(1)	2						CCTGTCTGGGCCTCGGCCAGG	0.602000													6	26					0	0	1	0	0
WDR59	79726	broad.mit.edu	37	16	74957846	74957846	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr16:74957846G>A	ENST00000262144.6	-	9	837	c.707C>T	c.(706-708)cCt>cTt	p.P236L		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	236										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						CTTCCAGACAGGCACCTGGCA	0.458000													8	12					0	0	1	0	0
ZFP82	284406	broad.mit.edu	37	19	36883766	36883766	+	Silent	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr19:36883766G>A	ENST00000392161.3	-	5	1718	c.1476C>T	c.(1474-1476)tcC>tcT	p.S492S	ZFP82_ENST00000392171.1_Silent_p.S492S	NM_133466.2	NP_597723.1	Q8N141	ZFP82_HUMAN	ZFP82 zinc finger protein	492					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GTTGAATAAGGGATGAATTAA	0.388000													11	17					0	0	1	0	0
NLRP1	22861	broad.mit.edu	37	17	5462554	5462554	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr17:5462554C>T	ENST00000345221.3	-	4	2016	c.1462G>A	c.(1462-1464)Gaa>Aaa	p.E488K	NLRP1_ENST00000269280.4_Missense_Mutation_p.E488K|NLRP1_ENST00000354411.3_Missense_Mutation_p.E488K|NLRP1_ENST00000262467.5_Missense_Mutation_p.E488K|NLRP1_ENST00000577119.1_Missense_Mutation_p.E488K|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000572272.1_Missense_Mutation_p.E488K	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	488	NACHT.				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				TAGAAATATTCCTTCCTGCTG	0.502000													13	46					0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73961692	73961692	+	Silent	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chrX:73961692G>A	ENST00000373468.1	-	3	3351	c.2700C>T	c.(2698-2700)ttC>ttT	p.F900F	KIAA2022_ENST00000055682.5_Silent_p.F900F			Q5QGS0	K2022_HUMAN	KIAA2022	900					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						CTTCAGCCATGAATTCCTGGG	0.463000													17	9					0	0	1	0	0
SMG1	23049	broad.mit.edu	37	16	18863469	18863469	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr16:18863469G>A	ENST00000446231.2	-	33	5384	c.4972C>T	c.(4972-4974)Cca>Tca	p.P1658S	SMG1_ENST00000389467.3_Missense_Mutation_p.P1658S			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	1658	FAT.|Interaction with SMG8 and SMG9.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						ATAGTGTCTGGAAGTAGATTC	0.433000													29	59					0	0	1	0	0
NEU2	4759	broad.mit.edu	37	2	233899379	233899379	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr2:233899379G>A	ENST00000233840.3	+	2	755	c.755G>A	c.(754-756)gGg>gAg	p.G252E		NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN	sialidase 2 (cytosolic sialidase)	252							exo-alpha-sialidase activity			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)		ACCAATGACGGGCTTGATTTC	0.672000													19	31					0	0	1	0	0
CHRDL2	25884	broad.mit.edu	37	11	74415649	74415649	+	Silent	SNP	C	C	T	rs146704420		TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr11:74415649C>T	ENST00000376332.3	-	7	1129	c.633G>A	c.(631-633)ccG>ccA	p.P211P	CHRDL2_ENST00000263671.5_Silent_p.P211P|CHRDL2_ENST00000534159.1_5'UTR	NM_001278473.1	NP_001265402.1	Q6WN34	CRDL2_HUMAN	chordin-like 2	211					cartilage development|cell differentiation|ossification	extracellular region|mitochondrion				endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15	Hepatocellular(1;0.098)					CTGGGGTGCCCGGGCCTCTCT	0.592000													18	30					0	0	1	0	0
LEPREL1	55214	broad.mit.edu	37	3	189688638	189688638	+	Silent	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr3:189688638G>A	ENST00000319332.5	-	13	2057	c.1860C>T	c.(1858-1860)ttC>ttT	p.F620F	LEPREL1_ENST00000427335.2_Silent_p.F439F	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1	620	Fe2OG dioxygenase.				collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	basement membrane|endoplasmic reticulum|Golgi apparatus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CTGTGAATATGAATTCTCCTC	0.313000													8	15					0	0	1	0	0
APBB2	323	broad.mit.edu	37	4	40936494	40936494	+	Silent	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr4:40936494G>A	ENST00000295974.8	-	10	1859	c.1230C>T	c.(1228-1230)atC>atT	p.I410I	APBB2_ENST00000506352.1_Silent_p.I389I|APBB2_ENST00000508593.1_Silent_p.I411I|APBB2_ENST00000513140.1_Silent_p.I389I	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2	410					cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						GGTCACTGTTGATACTACAAG	0.388000													21	14					0	0	1	0	0
OR51E2	81285	broad.mit.edu	37	11	4703390	4703390	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr11:4703390C>T	ENST00000396950.3	-	2	791	c.552G>A	c.(550-552)atG>atA	p.M184I		NM_030774.3	NP_110401.1	Q9H255	O51E2_HUMAN	olfactory receptor, family 51, subfamily E, member 2	184					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M184I(1)		NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		AGGCCAACTTCATTACATCCT	0.498000													8	50					0	0	1	0	0
ZSCAN2	54993	broad.mit.edu	37	15	85164689	85164689	+	Silent	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr15:85164689C>T	ENST00000448803.2	+	3	1555	c.1263C>T	c.(1261-1263)agC>agT	p.S421S	ZSCAN2_ENST00000541040.1_Intron|ZSCAN2_ENST00000485222.2_Intron|ZSCAN2_ENST00000538076.1_Intron|ZSCAN2_ENST00000546148.1_Silent_p.S421S|ZSCAN2_ENST00000327179.6_Silent_p.S420S|ZSCAN2_ENST00000358472.3_Silent_p.S271S	NM_181877.3	NP_870992.2	Q7Z7L9	ZSCA2_HUMAN	zinc finger and SCAN domain containing 2	421					cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1)	19				UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)		ACCAGTGCAGCGAGTGTGGGA	0.567000													17	76					0	0	1	0	0
PAQR4	124222	broad.mit.edu	37	16	3021713	3021713	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr16:3021713G>A	ENST00000318782.8	+	3	1016	c.586G>A	c.(586-588)Ggt>Agt	p.G196S	PKMYT1_ENST00000431515.2_Intron|PAQR4_ENST00000574988.1_Missense_Mutation_p.G129S|PAQR4_ENST00000293978.8_Missense_Mutation_p.G157S|PAQR4_ENST00000576565.1_Missense_Mutation_p.G129S|PAQR4_ENST00000572687.1_Missense_Mutation_p.G122S	NM_152341.3	NP_689554.2	Q8N4S7	PAQR4_HUMAN	progestin and adipoQ receptor family member IV	196						integral to membrane	receptor activity			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8						AGTGGGTCTGGGTTCAGGGGC	0.687000													29	73					0	0	1	0	0
ARHGEF9	23229	broad.mit.edu	37	X	62885799	62885799	+	Silent	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chrX:62885799G>A	ENST00000253401.6	-	7	1823	c.1023C>T	c.(1021-1023)ttC>ttT	p.F341F	ARHGEF9_ENST00000495564.1_Intron|ARHGEF9_ENST00000374872.1_Silent_p.F320F|ARHGEF9_ENST00000433323.2_Intron|ARHGEF9_ENST00000437457.2_Silent_p.F288F|ARHGEF9_ENST00000374870.4_Silent_p.F239F|ARHGEF9_ENST00000374878.1_Silent_p.F339F	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN	Cdc42 guanine nucleotide exchange factor (GEF) 9	341	PH.				apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						GGTCAAACAGGAAGAAGACCC	0.587000													9	12					0	0	1	0	0
ABCC12	94160	broad.mit.edu	37	16	48175245	48175245	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr16:48175245C>T	ENST00000311303.3	-	3	640	c.295G>A	c.(295-297)Gaa>Aaa	p.E99K	ABCC12_ENST00000416054.1_Missense_Mutation_p.E99K|ABCC12_ENST00000448542.1_Missense_Mutation_p.E99K	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	99						integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				GCTACCTCTTCATCCCAAAGG	0.498000													19	79					0	0	1	0	0
MX1	4599	broad.mit.edu	37	21	42824730	42824730	+	Silent	SNP	C	C	T	rs117998041	byFrequency	TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr21:42824730C>T	ENST00000398600.2	+	18	2717	c.1692C>T	c.(1690-1692)ttC>ttT	p.F564F	MX1_ENST00000398598.3_Silent_p.F564F|MX1_ENST00000455164.2_Silent_p.F564F|MX1_ENST00000288383.6_Silent_p.F541F	NM_001144925.1	NP_001138397.1	P20591	MX1_HUMAN	myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)	564					induction of apoptosis|response to virus|type I interferon-mediated signaling pathway	cytosol	GTP binding|GTPase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				TTGGGGCTTTCCAGTCCAGCT	0.522000													38	142					0	0	1	0	0
UGGT2	55757	broad.mit.edu	37	13	96508421	96508421	+	Silent	SNP	A	A	G			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr13:96508421A>G	ENST00000376747.3	-	34	4069	c.3999T>C	c.(3997-3999)gaT>gaC	p.D1333D		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	1333	Glucosyltransferase.				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						CCTGGTCAGCATCAACAAAAA	0.318000													20	42					0	0	1	0	0
EPHA7	2045	broad.mit.edu	37	6	93965732	93965732	+	Silent	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr6:93965732G>A	ENST00000369303.4	-	13	2380	c.2196C>T	c.(2194-2196)gtC>gtT	p.V732V		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	732	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CTAACTGAATGACTGTAAATT	0.393000													27	42					0	0	1	0	0
PI3	5266	broad.mit.edu	37	20	43803610	43803610	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr20:43803610G>A	ENST00000243924.3	+	1	94	c.47G>A	c.(46-48)gGg>gAg	p.G16E		NM_002638.3	NP_002629.1	P19957	ELAF_HUMAN	peptidase inhibitor 3, skin-derived	16					copulation	proteinaceous extracellular matrix	serine-type endopeptidase inhibitor activity			large_intestine(1)|lung(5)|skin(1)	7		Myeloproliferative disorder(115;0.0122)				CTCATCGCTGGGACGCTGGTT	0.572000													33	54					0	0	1	0	0
RNPS1	10921	broad.mit.edu	37	16	2305681	2305681	+	Silent	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr16:2305681G>A	ENST00000565678.1	-	7	1268	c.723C>T	c.(721-723)ccC>ccT	p.P241P	RNPS1_ENST00000567147.1_Intron|RNPS1_ENST00000566397.1_Silent_p.P64P|RNPS1_ENST00000566458.1_Silent_p.P218P|RNPS1_ENST00000569598.2_Silent_p.P147P|RNPS1_ENST00000561718.1_Silent_p.P64P|AC009065.1_ENST00000454671.1_Silent_p.Q141Q|RNPS1_ENST00000568631.1_Silent_p.P241P|RNPS1_ENST00000320225.5_Silent_p.P241P|RNPS1_ENST00000301730.8_Silent_p.P241P|RNPS1_ENST00000397086.2_Silent_p.P241P			Q15287	RNPS1_HUMAN	RNA binding protein S1, serine-rich domain	241	Arg/Pro-rich.|Necessary for interaction with PNN and exon-skipping.|Necessary for interaction with TRA2B, nuclear localization and exon-skipping.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|termination of RNA polymerase II transcription	cytosol|nuclear speck	mRNA 3'-UTR binding|nucleotide binding|protein binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(2)|urinary_tract(1)	9						GCCTAGGCCAGGGGGCCAGCA	0.552000													10	43					0	0	1	0	0
GORASP2	26003	broad.mit.edu	37	2	171822314	171822314	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr2:171822314C>T	ENST00000234160.4	+	10	1848	c.1033C>T	c.(1033-1035)Cct>Tct	p.P345S	GORASP2_ENST00000493692.1_3'UTR|GORASP2_ENST00000452526.2_Missense_Mutation_p.P357S	NM_001201428.1|NM_015530.4	NP_001188357.1|NP_056345.3	Q9H8Y8	GORS2_HUMAN	golgi reassembly stacking protein 2, 55kDa	345	Pro-rich.					Golgi membrane				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14						GCCACCTCTTCCTTCCATGCC	0.512000													20	48					0	0	1	0	0
PDE4A	5141	broad.mit.edu	37	19	10578249	10578249	+	Silent	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr19:10578249C>T	ENST00000380702.2	+	16	2547	c.2547C>T	c.(2545-2547)tcC>tcT	p.S849S	PDE4A_ENST00000352831.6_Silent_p.S871S|PDE4A_ENST00000293683.5_Silent_p.S845S|PDE4A_ENST00000344979.3_Silent_p.S632S|PDE4A_ENST00000592685.1_Silent_p.S849S|PDE4A_ENST00000440014.2_Silent_p.S810S			P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	871					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)	AGGACACATCCGCACTCCCAG	0.677000													55	54					0	0	1	0	0
WNT9B	7484	broad.mit.edu	37	17	44953982	44953982	+	Silent	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr17:44953982C>T	ENST00000290015.2	+	4	1025	c.972C>T	c.(970-972)agC>agT	p.S324S	WNT9B_ENST00000393461.2_Intron	NM_003396.1	NP_003387.1	O14905	WNT9B_HUMAN	wingless-type MMTV integration site family, member 9B	324					anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|collecting duct development|cornea development in camera-type eye|endoderm development|establishment of planar polarity involved in nephron morphogenesis|kidney rudiment formation|male genitalia development|mesonephric duct formation|metanephric tubule development|neuron differentiation|palate development|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|uterus morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway|Wnt receptor signaling pathway, planar cell polarity pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding			large_intestine(2)|lung(8)	10			BRCA - Breast invasive adenocarcinoma(9;0.0257)			ACACCCAGAGCCGCCTGGTGG	0.652000													5	37					0	0	1	0	0
KCNK3	3777	broad.mit.edu	37	2	26951064	26951064	+	Silent	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr2:26951064C>T	ENST00000302909.3	+	2	938	c.813C>T	c.(811-813)ggC>ggT	p.G271G		NM_002246.2	NP_002237.1	O14649	KCNK3_HUMAN	potassium channel, subfamily K, member 3	271					synaptic transmission	integral to plasma membrane				endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCAGGCGGGCGGCGGCGGAG	0.726000													5	14					0	0	1	0	0
SMARCA4	6597	broad.mit.edu	37	19	11101984	11101984	+	Silent	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr19:11101984C>T	ENST00000358026.2	+	8	1688	c.1404C>T	c.(1402-1404)cgC>cgT	p.R468R	SMARCA4_ENST00000541122.2_Silent_p.R468R|SMARCA4_ENST00000444061.3_Silent_p.R468R|SMARCA4_ENST00000450717.3_Silent_p.R468R|SMARCA4_ENST00000590574.1_Silent_p.R468R|SMARCA4_ENST00000344626.4_Silent_p.R468R|SMARCA4_ENST00000589677.1_Silent_p.R468R|SMARCA4_ENST00000429416.3_Silent_p.R468R|SMARCA4_ENST00000413806.3_Silent_p.R468R	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	468	HSA.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				AGCGCAAGCGCCGGCAGAAGC	0.662000			"""F, N, Mis"""		NSCLC								4	15					0	0	1	0	0
SIM1	6492	broad.mit.edu	37	6	100896494	100896494	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr6:100896494C>T	ENST00000369208.3	-	7	1386	c.604G>A	c.(604-606)Gac>Aac	p.D202N	SIM1_ENST00000262901.4_Missense_Mutation_p.D202N			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	202					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		TAGCAGCCGTCGAAGGGGGAC	0.597000													17	31					0	0	1	0	0
PUS7	54517	broad.mit.edu	37	7	105098310	105098310	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr7:105098310G>A	ENST00000356362.2	-	16	2127	c.1913C>T	c.(1912-1914)gCc>gTc	p.A638V	PUS7_ENST00000469408.1_Missense_Mutation_p.A638V	NM_019042.3	NP_061915.2	Q96PZ0	PUS7_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)	638					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	p.A638D(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						TTCTCGAATGGCCATGGTGGC	0.443000													46	39					0	0	1	0	0
ITK	3702	broad.mit.edu	37	5	156667160	156667160	+	Missense_Mutation	SNP	G	G	A	rs138078237		TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr5:156667160G>A	ENST00000422843.3	+	10	1092	c.940G>A	c.(940-942)Gat>Aat	p.D314N		NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	314	SH2.				cellular defense response|intracellular signal transduction|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTATGTGTTCGATTCCATCCC	0.463000			T	SYK	peripheral T-cell lymphoma								25	33					0	0	1	0	0
MYSM1	114803	broad.mit.edu	37	1	59132748	59132748	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:59132748G>A	ENST00000472487.1	-	16	2032	c.1993C>T	c.(1993-1995)Cct>Tct	p.P665S	MYSM1_ENST00000493821.1_5'UTR	NM_001085487.2	NP_001078956.1	Q5VVJ2	MYSM1_HUMAN	Myb-like, SWIRM and MPN domains 1	665	MPN.				histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin remodeling complex	DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(7;9.36e-06)					CGTAAGGAAGGATTAGGATCA	0.398000													3	23					0	0	1	0	0
UMODL1	89766	broad.mit.edu	37	21	43547301	43547301	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr21:43547301C>T	ENST00000400427.1	+	18	4043	c.3647C>T	c.(3646-3648)aCc>aTc	p.T1216I	UMODL1_ENST00000408989.2_Missense_Mutation_p.T1288I|UMODL1_ENST00000400423.2_3'UTR|UMODL1_ENST00000400424.1_Missense_Mutation_p.T1088I|UMODL1_ENST00000408910.2_Missense_Mutation_p.T1160I	NM_001199527.1	NP_001186456.1	Q5DID0	UROL1_HUMAN	uromodulin-like 1	1160	ZP.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						TGCTGGGCAACCCCGTCTAGC	0.572000													9	43					0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7551065	7551065	+	Silent	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr12:7551065C>T	ENST00000313599.3	-	7	1581	c.1524G>A	c.(1522-1524)agG>agA	p.R508R	CD163L1_ENST00000416109.2_Silent_p.R518R|CD163L1_ENST00000396630.1_Silent_p.R508R			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	508	SRCR 5.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CAGCTGCATTCCTTGTGCTCC	0.468000													19	86					0	0	1	0	0
ATAD2B	54454	broad.mit.edu	37	2	23980650	23980650	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr2:23980650G>A	ENST00000238789.5	-	25	4059	c.3716C>T	c.(3715-3717)tCa>tTa	p.S1239L	ATAD2B_ENST00000474583.1_5'UTR	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	1239							ATP binding|nucleoside-triphosphatase activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGATTCATTTGAACTTTCCTC	0.458000													8	30					0	0	1	0	0
SLC10A2	6555	broad.mit.edu	37	13	103698491	103698491	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr13:103698491C>T	ENST00000245312.3	-	6	1635	c.1039G>A	c.(1039-1041)Gaa>Aaa	p.E347K		NM_000452.2	NP_000443.1	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	347					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					GTCTACTTTTCGTCAGGTTGA	0.373000													12	46					0	0	1	0	0
PSG3	5671	broad.mit.edu	37	19	43234008	43234008	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr19:43234008C>T	ENST00000327495.5	-	4	1094	c.910G>A	c.(910-912)Gaa>Aaa	p.E304K	PSG3_ENST00000595140.1_Missense_Mutation_p.E304K	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	304	Ig-like C2-type 2.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				GGTCCTGTTTCATTTCTCGTG	0.488000													37	74					0	0	1	0	0
CKAP4	10970	broad.mit.edu	37	12	106633303	106633303	+	Silent	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr12:106633303G>A	ENST00000378026.4	-	2	1444	c.1308C>T	c.(1306-1308)tcC>tcT	p.S436S		NM_006825.3	NP_006816.2	Q07065	CKAP4_HUMAN	cytoskeleton-associated protein 4	436						ER-Golgi intermediate compartment membrane|integral to membrane|membrane fraction				NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|pancreas(1)|urinary_tract(1)	20						TGGACAGGAGGGACTCCAGGC	0.672000													17	57					0	0	1	0	0
ITGA7	3679	broad.mit.edu	37	12	56094070	56094070	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr12:56094070G>A	ENST00000257880.7	-	5	997	c.778C>T	c.(778-780)Ccg>Tcg	p.P260S	ITGA7_ENST00000553804.1_Missense_Mutation_p.P260S|ITGA7_ENST00000394230.2_Missense_Mutation_p.P260S|ITGA7_ENST00000555728.1_Missense_Mutation_p.P260S|ITGA7_ENST00000347027.6_Intron|ITGA7_ENST00000257879.6_Intron|ITGA7_ENST00000452168.2_Missense_Mutation_p.P163S|ITGA7_ENST00000394229.2_Intron			Q13683	ITA7_HUMAN	integrin, alpha 7	260					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GCAGGGACCGGGATGAGGCGG	0.642000													18	18					0	0	1	0	0
FAM83H	286077	broad.mit.edu	37	8	144808130	144808130	+	Silent	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr8:144808130G>A	ENST00000388913.3	-	5	3626	c.3501C>T	c.(3499-3501)ttC>ttT	p.F1167F		NM_198488.3	NP_940890.3	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	1167					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			TCTTGGGCACGAACTTGCCCA	0.647000													13	41					0	0	1	0	0
CNOT1	23019	broad.mit.edu	37	16	58616794	58616794	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr16:58616794G>A	ENST00000317147.5	-	10	1279	c.947C>T	c.(946-948)cCg>cTg	p.P316L	CNOT1_ENST00000569240.1_Missense_Mutation_p.P316L|CNOT1_ENST00000441024.2_Missense_Mutation_p.P316L	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	316					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CCCACTGCCCGGAGCAGAAAT	0.403000													13	42					0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38628989	38628989	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr3:38628989C>T	ENST00000413689.1	-	15	2531	c.2338G>A	c.(2338-2340)Ggc>Agc	p.G780S	SCN5A_ENST00000425664.1_Missense_Mutation_p.G780S|SCN5A_ENST00000451551.2_Missense_Mutation_p.G780S|SCN5A_ENST00000455624.2_Missense_Mutation_p.G780S|SCN5A_ENST00000423572.2_Missense_Mutation_p.G780S|SCN5A_ENST00000450102.2_Missense_Mutation_p.G780S|SCN5A_ENST00000443581.1_Missense_Mutation_p.G780S|SCN5A_ENST00000414099.2_Missense_Mutation_p.G780S|SCN5A_ENST00000449557.2_Missense_Mutation_p.G780S|SCN5A_ENST00000333535.4_Missense_Mutation_p.G780S	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	780					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)	ATGTTCCAGCCCTGTTGGAAG	0.542000													9	17					0	0	1	0	0
MATN4	8785	broad.mit.edu	37	20	43926816	43926816	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr20:43926816C>T	ENST00000537548.1	-	8	1664	c.1420G>A	c.(1420-1422)Gag>Aag	p.E474K	MATN4_ENST00000353917.5_Missense_Mutation_p.E392K|MATN4_ENST00000372751.4_Missense_Mutation_p.E325K|MATN4_ENST00000342716.4_Missense_Mutation_p.E474K|MATN4_ENST00000372754.1_Missense_Mutation_p.E515K|MATN4_ENST00000372756.1_Missense_Mutation_p.E474K|MATN4_ENST00000360607.5_Missense_Mutation_p.E433K|MATN4_ENST00000372753.1_Missense_Mutation_p.E325K			O95460	MATN4_HUMAN	matrilin 4	515	VWFA 2.					extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				CCACCTTCCTCCTTGGCGCGC	0.682000													29	90					0	0	1	0	0
CACNA1I	8911	broad.mit.edu	37	22	40073345	40073345	+	Splice_Site	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr22:40073345G>A	ENST00000336649.4	+	33	4872		c.e33-1		CACNA1I_ENST00000407673.1_Splice_Site|CACNA1I_ENST00000404898.1_Splice_Site|CACNA1I_ENST00000402142.3_Splice_Site|CACNA1I_ENST00000401624.1_Splice_Site|CACNA1I_ENST00000400164.3_Splice_Site			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit						axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	TCCTCCCGCAGGTGGGCAACC	0.672000													6	7					0	0	1	0	0
ZNF252P	286101	broad.mit.edu	37	8	146220548	146220548	+	RNA	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr8:146220548G>A	ENST00000426361.2	-	0	245					NR_023392.1															endometrium(1)	1						TACAACCAAGGGGAAATTTGC	0.458000													10	46					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114275389	114275389	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr4:114275389C>T	ENST00000357077.4	+	38	5668	c.5615C>T	c.(5614-5616)tCg>tTg	p.S1872L	ANK2_ENST00000394537.3_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.S1839L	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1839	Repeat-rich region.				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GCGTCATCATCGAGTAAAACT	0.453000													78	74					0	0	1	0	0
FOSL2	2355	broad.mit.edu	37	2	28627123	28627123	+	Silent	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr2:28627123C>T	ENST00000264716.4	+	2	1115	c.252C>T	c.(250-252)ccC>ccT	p.P84P	FOSL2_ENST00000460736.1_3'UTR|FOSL2_ENST00000545753.1_Silent_p.P45P|FOSL2_ENST00000379619.1_Silent_p.P59P	NM_005253.3	NP_005244.1	P15408	FOSL2_HUMAN	FOS-like antigen 2	84					cell death|regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)					CCTACAGCCCCCTGCCGGGCC	0.642000													28	105					0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38628988	38628988	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr3:38628988C>T	ENST00000413689.1	-	15	2532	c.2339G>A	c.(2338-2340)gGc>gAc	p.G780D	SCN5A_ENST00000425664.1_Missense_Mutation_p.G780D|SCN5A_ENST00000451551.2_Missense_Mutation_p.G780D|SCN5A_ENST00000455624.2_Missense_Mutation_p.G780D|SCN5A_ENST00000423572.2_Missense_Mutation_p.G780D|SCN5A_ENST00000450102.2_Missense_Mutation_p.G780D|SCN5A_ENST00000443581.1_Missense_Mutation_p.G780D|SCN5A_ENST00000414099.2_Missense_Mutation_p.G780D|SCN5A_ENST00000449557.2_Missense_Mutation_p.G780D|SCN5A_ENST00000333535.4_Missense_Mutation_p.G780D	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	780					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)	GATGTTCCAGCCCTGTTGGAA	0.537000													8	17					0	0	1	0	0
IL36B	27177	broad.mit.edu	37	2	113780333	113780333	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr2:113780333G>A	ENST00000259213.4	-	6	520	c.413C>T	c.(412-414)tCc>tTc	p.S138F		NM_014438.3	NP_055253.2	Q9NZH7	IL36B_HUMAN	interleukin 36, beta	138					immune response	extracellular space	cytokine activity|interleukin-1 receptor binding			kidney(1)|ovary(1)|pancreas(1)	3						ATGTTGAAAGGAACTCTTCCA	0.433000													8	23					0	0	1	0	0
ATP8A2	51761	broad.mit.edu	37	13	26138145	26138145	+	Silent	SNP	G	G	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr13:26138145G>T	ENST00000381655.2	+	16	1591	c.1449G>T	c.(1447-1449)ctG>ctT	p.L483L	ATP8A2_ENST00000255283.8_Silent_p.L443L	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	443					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		ACCCCAGGCTGTTGAAGAACA	0.388000													21	51					1.55469e-16	1.57684e-16	1	1	0
CFHR2	3080	broad.mit.edu	37	1	196918654	196918654	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:196918654C>T	ENST00000367415.4	+	2	242	c.128C>T	c.(127-129)tCc>tTc	p.S43F	CFHR2_ENST00000476712.1_3'UTR|CFHR2_ENST00000367421.3_Missense_Mutation_p.S43F	NM_005666.2	NP_005657.1	P36980	FHR2_HUMAN	complement factor H-related 2	43	Sushi 1.					extracellular region				large_intestine(2)|ovary(1)|skin(3)	6						AAGCCATTTTCCCAAGTTCCT	0.348000													4	17					0	0	1	0	0
TOX2	84969	broad.mit.edu	37	20	42635417	42635417	+	Silent	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr20:42635417G>A	ENST00000358131.5	+	3	631	c.423G>A	c.(421-423)tcG>tcA	p.S141S	TOX2_ENST00000423191.1_Silent_p.S90S|TOX2_ENST00000372999.1_Silent_p.S90S|TOX2_ENST00000341197.3_Silent_p.S132S	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	141					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			ACCTGCTGTCGGGCCAGCTGC	0.592000													8	43					0	0	1	0	0
CD300LF	146722	broad.mit.edu	37	17	72700933	72700933	+	Silent	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr17:72700933G>A	ENST00000469092.1	-	3	351	c.75C>T	c.(73-75)atC>atT	p.I25I	CD300LF_ENST00000343125.4_Silent_p.I25I|CD300LF_ENST00000583937.1_Silent_p.I22I|CD300LF_ENST00000464910.1_Silent_p.I25I|CD300LF_ENST00000581500.1_Silent_p.I25I|CD300LF_ENST00000326165.6_Silent_p.I22I|CD300LF_ENST00000301573.9_Silent_p.I22I|CD300LF_ENST00000361254.4_Silent_p.I25I|RAB37_ENST00000340415.3_Intron|RAB37_ENST00000402449.4_Intron			Q8TDQ1	CLM1_HUMAN	CD300 molecule-like family member f	22	Ig-like V-type.					integral to membrane|plasma membrane	receptor activity			endometrium(2)|large_intestine(1)|lung(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						TTGGACCGGTGATTTGAGTGA	0.532000													15	42					0	0	1	0	0
E4F1	1877	broad.mit.edu	37	16	2283156	2283156	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr16:2283156C>T	ENST00000301727.4	+	7	1076	c.1028C>T	c.(1027-1029)tCc>tTc	p.S343F	E4F1_ENST00000565090.1_Missense_Mutation_p.S343F|E4F1_ENST00000564139.1_Missense_Mutation_p.S343F	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN	E4F transcription factor 1	343					cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth	cytoplasm|nucleoplasm	DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)	1						CAGGAGCTGTCCCTGGGCATG	0.632000													41	107					0	0	1	0	0
DAB1	1600	broad.mit.edu	37	1	57491689	57491689	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:57491689C>T	ENST00000371236.2	-	10	1014	c.751G>A	c.(751-753)Gac>Aac	p.D251N	DAB1_ENST00000414851.2_Missense_Mutation_p.D233N|DAB1_ENST00000439789.2_Missense_Mutation_p.D165N|DAB1_ENST00000371234.4_Missense_Mutation_p.D251N|DAB1_ENST00000420954.2_Missense_Mutation_p.D249N|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000371231.1_Missense_Mutation_p.D284N			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	284					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						GTGGACATGTCCCCAAAAAGT	0.473000													13	65					0	0	1	0	0
TET1	80312	broad.mit.edu	37	10	70405865	70405865	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr10:70405865C>T	ENST00000373644.4	+	4	3588	c.3379C>T	c.(3379-3381)Cca>Tca	p.P1127S		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1127					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						ACAACAGAAACCACCTTCAAG	0.388000													5	11					0	0	1	0	0
SLC39A2	29986	broad.mit.edu	37	14	21469592	21469592	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr14:21469592G>A	ENST00000298681.4	+	4	941	c.784G>A	c.(784-786)Gag>Aag	p.E262K	SLC39A2_ENST00000554422.1_3'UTR	NM_014579.3	NP_055394.2	Q9NP94	S39A2_HUMAN	solute carrier family 39 (zinc transporter), member 2	262						cytoplasmic membrane-bounded vesicle|integral to plasma membrane	zinc ion transmembrane transporter activity			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	14	all_cancers(95;0.00267)		OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08)	GBM - Glioblastoma multiforme(265;0.0187)		GGCTGTGTTAGAGGGTGTGGC	0.572000													32	90					0	0	1	0	0
KRT6A	3853	broad.mit.edu	37	12	52885331	52885331	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr12:52885331C>T	ENST00000330722.6	-	2	798	c.730G>A	c.(730-732)Gac>Aac	p.D244N		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	244	Coil 1B.|Rod.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		TCCACCAGGTCCTGCATGCCT	0.547000													14	133					0	0	1	0	0
AKR1C4	1109	broad.mit.edu	37	10	5258737	5258737	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr10:5258737C>T	ENST00000380448.1	+	10	1163	c.910C>T	c.(910-912)Cga>Tga	p.R304*	AKR1C4_ENST00000263126.1_Nonsense_Mutation_p.R304*			P17516	AK1C4_HUMAN	aldo-keto reductase family 1, member C4	304					androgen metabolic process|bile acid biosynthetic process	cytosol	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (B-specific) activity|bile acid transmembrane transporter activity|chlordecone reductase activity|electron carrier activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	18					NADH(DB00157)	CAGAAATTATCGATATGTTGT	0.343000													4	4					0	0	1	0	0
ANO1	55107	broad.mit.edu	37	11	70007744	70007744	+	Silent	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr11:70007744G>A	ENST00000355303.5	+	18	2102	c.1797G>A	c.(1795-1797)gaG>gaA	p.E599E	ANO1_ENST00000538023.1_Silent_p.E599E|ANO1_ENST00000531349.1_Silent_p.E308E|ANO1_ENST00000530676.1_Silent_p.E453E|ANO1_ENST00000316296.5_Silent_p.E541E|ANO1_ENST00000398543.2_Silent_p.E453E	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	599					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						CAAAGACGGAGAAAAGCTTTG	0.552000													12	80					0	0	1	0	0
COL6A1	1291	broad.mit.edu	37	21	47409530	47409530	+	Silent	SNP	C	C	G			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr21:47409530C>G	ENST00000361866.3	+	10	981	c.867C>G	c.(865-867)ccC>ccG	p.P289P		NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	289	Triple-helical region.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	AGGGAAGACCCGGGGACCTCG	0.672000													17	52					0	0	1	0	0
CFHR3	10878	broad.mit.edu	37	1	196762596	196762596	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:196762596C>T	ENST00000367425.4	+	6	1038	c.946C>T	c.(946-948)Caa>Taa	p.Q316*	CFHR3_ENST00000391985.3_Nonsense_Mutation_p.Q255*	NM_021023.5	NP_066303.2			complement factor H-related 3											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18						TCTATCATTTCAAGCAGTGTG	0.373000													15	35					0	0	1	0	0
FOLH1	2346	broad.mit.edu	37	11	49178334	49178334	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr11:49178334C>T	ENST00000340334.7	-	16	1881	c.1513G>A	c.(1513-1515)Gat>Aat	p.D505N	FOLH1_ENST00000533034.1_Missense_Mutation_p.D505N|FOLH1_ENST00000356696.3_Missense_Mutation_p.D520N|FOLH1_ENST00000256999.2_Missense_Mutation_p.D520N|FOLH1_ENST00000343844.4_Missense_Mutation_p.D212N	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	520	NAALADase.				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	ACCTCAAAATCATTTCCAGAT	0.318000													18	61					0	0	1	0	0
NOB1	28987	broad.mit.edu	37	16	69778811	69778811	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr16:69778811G>A	ENST00000268802.5	-	8	963	c.934C>T	c.(934-936)Cgc>Tgc	p.R312C		NM_014062.1	NP_054781.1	Q9ULX3	NOB1_HUMAN	NIN1/RPN12 binding protein 1 homolog (S. cerevisiae)	312						nucleus	metal ion binding|protein binding			breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						TTGGGGTTGCGGGAGAAGTGC	0.587000													15	27					0	0	1	0	0
TANGO6	79613	broad.mit.edu	37	16	68894292	68894292	+	Silent	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr16:68894292G>A	ENST00000261778.1	+	2	612	c.600G>A	c.(598-600)aaG>aaA	p.K200K		NM_024562.1	NP_078838.1			transport and golgi organization 6 homolog (Drosophila)																		CCAGCTGCAAGGCCCTTCTGA	0.522000													78	121					0	0	1	0	0
TCEB3C	162699	broad.mit.edu	37	18	44554574	44554574	+	Splice_Site	SNP	T	T	C			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr18:44554574T>C	ENST00000330682.2	-	1	1875	c.1638_splice	c.e1+1	p.*547_splice	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						GTCCTGAGTTTATCGTCGGGA	0.567000													25	391					0	0	1	0	0
CECR5	27440	broad.mit.edu	37	22	17622112	17622112	+	Silent	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr22:17622112G>A	ENST00000336737.4	-	6	608	c.583C>T	c.(583-585)Cta>Tta	p.L195L	CECR5_ENST00000399852.3_Silent_p.L58L|CECR5_ENST00000155674.5_Silent_p.L165L	NM_033070.2	NP_149061.1	Q9BXW7	CECR5_HUMAN	cat eye syndrome chromosome region, candidate 5	195							hydrolase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(10)|pancreas(1)|prostate(1)	21		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)				GGCTCCCCTAGGAGGAGCACC	0.652000													16	31					0	0	1	0	0
SERPINB11	89778	broad.mit.edu	37	18	61390629	61390629	+	RNA	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr18:61390629C>T	ENST00000544088.1	+	0	1237				SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000382749.5_RNA|SERPINB11_ENST00000538847.1_RNA	NM_080475.2	NP_536723.2	Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				CTTGCCTCTCCCTAATCAGAT	0.498000													18	65					0	0	1	0	0
ATP1B1	481	broad.mit.edu	37	1	169094121	169094121	+	Splice_Site	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:169094121G>A	ENST00000367816.1	+	4	755		c.e4-1		ATP1B1_ENST00000367813.3_Splice_Site|ATP1B1_ENST00000367815.3_Splice_Site|ATP1B1_ENST00000499679.3_Splice_Site|ATP1B1_ENST00000494797.1_Splice_Site			P05026	AT1B1_HUMAN	ATPase, Na+/K+ transporting, beta 1 polypeptide						ATP biosynthetic process|blood coagulation|leukocyte migration	sodium:potassium-exchanging ATPase complex	protein binding|sodium:potassium-exchanging ATPase activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	14	all_hematologic(923;0.208)					GCCTGGTCTAGGATTAACACA	0.393000													8	41					0	0	1	0	0
ACTL8	81569	broad.mit.edu	37	1	18152345	18152345	+	Silent	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:18152345C>T	ENST00000375406.1	+	3	648	c.432C>T	c.(430-432)acC>acT	p.T144T		NM_030812.2	NP_110439.2	Q9H568	ACTL8_HUMAN	actin-like 8	144						cytoplasm|cytoskeleton				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		GCCTCCTGACCGGAGTGGTGG	0.637000											OREG0013157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	35					0	0	1	0	0
TRAV2	28691	broad.mit.edu	37	14	22180873	22180873	+	RNA	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr14:22180873C>T	ENST00000390424.2	+	0	155																											CTTCTGTAATCACTCTGTGTC	0.483000													37	114					0	0	1	0	0
GPR128	84873	broad.mit.edu	37	3	100349641	100349641	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr3:100349641G>A	ENST00000273352.3	+	3	590	c.322G>A	c.(322-324)Gat>Aat	p.D108N		NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	108					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						ATGTGGCAAGGATACTCCAAA	0.388000													9	12					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170135906	170135906	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr2:170135906C>T	ENST00000263816.3	-	12	1826	c.1541G>A	c.(1540-1542)gGa>gAa	p.G514E	LRP2_ENST00000443831.1_Missense_Mutation_p.G514E	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	514					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CACGGCAATTCCTCTAGGATG	0.403000													7	40					0	0	1	0	0
UGT2B15	7366	broad.mit.edu	37	4	69512957	69512957	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr4:69512957C>T	ENST00000338206.5	-	6	1467	c.1458G>A	c.(1456-1458)tgG>tgA	p.W486*		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	486					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										GGTACTGGATCCAGGTGAGGT	0.488000													69	79					0	0	1	0	0
CTNNA2	1496	broad.mit.edu	37	2	80646611	80646611	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr2:80646611T>A	ENST00000466387.1	+	13	1899	c.1175T>A	c.(1174-1176)tTc>tAc	p.F392Y	CTNNA2_ENST00000361291.4_Missense_Mutation_p.F426Y|CTNNA2_ENST00000540488.1_Missense_Mutation_p.F392Y|CTNNA2_ENST00000496558.1_Missense_Mutation_p.F392Y|CTNNA2_ENST00000541047.1_Missense_Mutation_p.F392Y|CTNNA2_ENST00000343114.3_Missense_Mutation_p.F71Y|CTNNA2_ENST00000402739.4_Missense_Mutation_p.F392Y			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	392					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						TCTGACTCTTTCCTGGAAACC	0.378000													21	41					0	0	1	0	0
PTK7	5754	broad.mit.edu	37	6	43113066	43113066	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr6:43113066G>A	ENST00000230419.4	+	16	2757	c.2536G>A	c.(2536-2538)Gag>Aag	p.E846K	PTK7_ENST00000352931.2_Missense_Mutation_p.E790K|PTK7_ENST00000349241.2_Missense_Mutation_p.E716K|PTK7_ENST00000345201.2_Missense_Mutation_p.E806K|PTK7_ENST00000481273.1_Missense_Mutation_p.E854K	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	846	Interaction with CTNNB1.|Protein kinase; inactive.				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			CTTCCGGAGGGAGTTGGAGAT	0.607000													30	78					0	0	1	0	0
DES	1674	broad.mit.edu	37	2	220284867	220284867	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr2:220284867C>T	ENST00000373960.3	+	2	715	c.629C>T	c.(628-630)gCc>gTc	p.A210V		NM_001927.3	NP_001918.3	P17661	DESM_HUMAN	desmin	210	Coil 1B.|Rod.				cytoskeleton organization|muscle filament sliding|regulation of heart contraction	cytosol|Z disc	protein binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)	18		Renal(207;0.0183)		Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008)		AATTTGGCTGCCTTCCGAGCG	0.572000													14	55					0	0	1	0	0
NDUFV2	4729	broad.mit.edu	37	18	9124966	9124966	+	Silent	SNP	A	A	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr18:9124966A>T	ENST00000400033.1	+	7	690	c.573A>T	c.(571-573)atA>atT	p.I191I	NDUFV2_ENST00000465096.1_3'UTR|RP11-143J12.2_ENST00000582375.1_RNA|NDUFV2_ENST00000318388.6_Silent_p.I188I|RP11-21J18.1_ENST00000579126.1_RNA|RP11-143J12.2_ENST00000583081.1_RNA			P19404	NDUV2_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa	188					cardiac muscle tissue development|mitochondrial electron transport, NADH to ubiquinone|nervous system development|transport	mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|electron carrier activity|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity			breast(1)|lung(4)|ovary(1)|stomach(1)	7					NADH(DB00157)	TGGTTCAAATAAATGACAATT	0.323000													6	18					0	0	1	0	0
E2F8	79733	broad.mit.edu	37	11	19247118	19247118	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr11:19247118G>A	ENST00000527884.1	-	12	2303	c.2071C>T	c.(2071-2073)Ccc>Tcc	p.P691S	RP11-428C19.4_ENST00000527978.1_RNA|E2F8_ENST00000250024.4_Missense_Mutation_p.P691S|E2F8_ENST00000529188.1_5'UTR	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	691					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TGAAAAGAGGGAAAATTAACA	0.478000													19	70					0	0	1	0	0
UGT2A2	574537	broad.mit.edu	37	4	70504813	70504813	+	Silent	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr4:70504813G>A	ENST00000457664.2	-	1	545	c.546C>T	c.(544-546)ttC>ttT	p.F182F	UGT2A1_ENST00000514019.1_Silent_p.F383F|UGT2A1_ENST00000503640.1_Intron|UGT2A1_ENST00000512704.1_Intron|UGT2A1_ENST00000286604.4_Intron	NM_001105677.2	NP_001099147.2																					ATGCTGGAGAGAACCTCAATG	0.458000													6	21					0	0	1	0	0
OR6B3	150681	broad.mit.edu	37	2	240984604	240984604	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr2:240984604C>T	ENST00000319423.4	-	1	885	c.886G>A	c.(886-888)Gaa>Aaa	p.E296K		NM_173351.1	NP_775486.1	Q8NGW1	OR6B3_HUMAN	olfactory receptor, family 6, subfamily B, member 3	296					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(10)|lung(4)|ovary(2)|prostate(1)	18		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)		TTCTTAAATTCCTTATTCCTC	0.478000													40	122					0	0	1	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57076242	57076242	+	Silent	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr11:57076242G>A	ENST00000532437.1	-	5	4254	c.3943C>T	c.(3943-3945)Ctg>Ttg	p.L1315L	TNKS1BP1_ENST00000358252.3_Silent_p.L1315L			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1315	Acidic.|Gly-rich.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CTCAGGCCCAGATTGTTACCC	0.602000													56	160					0	0	1	0	0
ASH1L	55870	broad.mit.edu	37	1	155340395	155340395	+	Silent	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:155340395G>A	ENST00000368346.3	-	12	7240	c.6601C>T	c.(6601-6603)Ctg>Ttg	p.L2201L	ASH1L_ENST00000392403.3_Silent_p.L2196L			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2201	SET.				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TCCAGGTTCAGGCAGTAGTGG	0.403000													14	56					0	0	1	0	0
SLC5A8	160728	broad.mit.edu	37	12	101552059	101552059	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr12:101552059C>T	ENST00000536262.2	-	14	2236	c.1678G>A	c.(1678-1680)Gac>Aac	p.D560N		NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8	560					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GATAAAAAGTCCTCTTTGGTT	0.338000													13	45					0	0	1	0	0
LRFN4	78999	broad.mit.edu	37	11	66627470	66627470	+	Missense_Mutation	SNP	A	A	C			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr11:66627470A>C	ENST00000309602.4	+	2	1955	c.1712A>C	c.(1711-1713)cAc>cCc	p.H571P	PC_ENST00000393955.2_Intron|PC_ENST00000393958.2_Intron|LRFN4_ENST00000393952.3_Intron|PC_ENST00000393960.1_Intron	NM_024036.4	NP_076941.2	Q6PJG9	LRFN4_HUMAN	leucine rich repeat and fibronectin type III domain containing 4	571						integral to membrane				breast(1)|lung(1)|prostate(1)	3						CCCAAGGCCCAcccgccgcgg	0.731000													5	16					0	0	1	0	0
ZNF733P	643955	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1																						CTTATGTCTAGTAAGGTTTGA	0.438000													4	49					0	0	1	0	0
FOSL2	2355	broad.mit.edu	37	2	28635285	28635285	+	Silent	SNP	C	C	T	rs138992086		TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr2:28635285C>T	ENST00000264716.4	+	4	1814	c.951C>T	c.(949-951)tcC>tcT	p.S317S	FOSL2_ENST00000545753.1_Silent_p.S278S|FOSL2_ENST00000379619.1_Silent_p.S309S	NM_005253.3	NP_005244.1	P15408	FOSL2_HUMAN	FOS-like antigen 2	317					cell death|regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)					CATCAGACTCCTTGAACTCCC	0.627000													6	42					0	0	1	0	0
CXCR2P1	3580	broad.mit.edu	37	2	218925822	218925822	+	RNA	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr2:218925822G>A	ENST00000439871.1	-	0	558					NR_002712.1																						CATTCATCTTGGAGGCAGCCA	0.532000													3	11					0	0	1	0	0
GAMT	2593	broad.mit.edu	37	19	1399562	1399562	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr19:1399562C>T	ENST00000447102.3	-	3	445	c.352G>A	c.(352-354)Gag>Aag	p.E118K	GAMT_ENST00000252288.2_Missense_Mutation_p.E118K	NM_138924.2	NP_620279.1	Q14353	GAMT_HUMAN	guanidinoacetate N-methyltransferase	118	S-adenosyl-L-methionine binding.				creatine biosynthetic process|muscle contraction	cytosol	guanidinoacetate N-methyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|upper_aerodigestive_tract(1)	6		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Lung NSC(49;0.000195)|Breast(49;0.000231)|all_lung(49;0.000247)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Creatine(DB00148)	GCCACATCCTCCCACAGGCCT	0.602000													4	16					0	0	1	0	0
OR56A3	390083	broad.mit.edu	37	11	5968952	5968952	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr11:5968952C>T	ENST00000329564.6	+	1	383	c.376C>T	c.(376-378)Cgt>Tgt	p.R126C		NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R126S(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCCTATGATCGTTATGTAGC	0.458000													31	89					0	0	1	0	0
PTCHD3	374308	broad.mit.edu	37	10	27702777	27702777	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr10:27702777C>T	ENST00000438700.3	-	1	520	c.403G>A	c.(403-405)Ggc>Agc	p.G135S		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	135					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						GGGTGCGCGCCCACCTGCCAC	0.672000													32	43					0	0	1	0	0
SCAPER	49855	broad.mit.edu	37	15	77064215	77064215	+	Silent	SNP	A	A	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr15:77064215A>T	ENST00000538941.2	-	10	1317	c.378T>A	c.(376-378)gcT>gcA	p.A126A	SCAPER_ENST00000324767.7_Silent_p.A372A|SCAPER_ENST00000563290.1_Silent_p.A372A	NM_001145923.1	NP_001139395.1	Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	371						endoplasmic reticulum|nucleus	zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						CAATGTGGACAGCAGATATTT	0.383000													58	41					0	0	1	0	0
AKAP13	11214	broad.mit.edu	37	15	86124489	86124489	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr15:86124489C>T	ENST00000394518.2	+	7	3285	c.3190C>T	c.(3190-3192)Cct>Tct	p.P1064S	AKAP13_ENST00000361243.2_Missense_Mutation_p.P1064S	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1064					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						TCAGCCTTCTCCTCTGGATGT	0.532000													14	71					0	0	1	0	0
ANGPTL1	9068	broad.mit.edu	37	1	178822911	178822911	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:178822911C>T	ENST00000234816.2	-	4	1282	c.835G>A	c.(835-837)Gac>Aac	p.D279N	RALGPS2_ENST00000324778.4_Intron|RALGPS2_ENST00000367635.3_Intron|ANGPTL1_ENST00000367629.1_Missense_Mutation_p.D279N|RALGPS2_ENST00000367634.2_Intron	NM_004673.3	NP_004664.1	O95841	ANGL1_HUMAN	angiopoietin-like 1	279	Fibrinogen C-terminal.					extracellular space	receptor binding			breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	14						TGCTGACAGTCTTTGAATGGT	0.333000													10	38					0	0	1	0	0
ALG3	10195	broad.mit.edu	37	3	183960642	183960642	+	Silent	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr3:183960642G>A	ENST00000455059.1	-	8	1447	c.993C>T	c.(991-993)ctC>ctT	p.L331L	ALG3_ENST00000418734.2_Silent_p.L315L|ALG3_ENST00000397676.3_Silent_p.L371L|ALG3_ENST00000445626.2_Silent_p.L323L|EIF2B5_ENST00000444495.1_Intron			Q92685	ALG3_HUMAN	ALG3, alpha-1,3- mannosyltransferase	371					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity			kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TGGCCCACAGGAGGTAGGGCA	0.572000													27	48					0	0	1	0	0
TAS1R3	83756	broad.mit.edu	37	1	1268330	1268330	+	Silent	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:1268330C>T	ENST00000339381.5	+	4	1337	c.1305C>T	c.(1303-1305)ttC>ttT	p.F435F		NM_152228.1	NP_689414.1	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3	435					detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)	Aspartame(DB00168)	ACCTGACCTTCCACGTGGGCG	0.682000													10	28					0	0	1	0	0
RUNDC1	146923	broad.mit.edu	37	17	41141503	41141503	+	Missense_Mutation	SNP	A	A	C			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr17:41141503A>C	ENST00000361677.1	+	3	815	c.803A>C	c.(802-804)gAg>gCg	p.E268A		NM_173079.2	NP_775102.2	Q96C34	RUND1_HUMAN	RUN domain containing 1	268										breast(1)|large_intestine(2)|lung(4)|prostate(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		CAGTTGGTTGAGCAACTGAAA	0.493000													15	28					0	0	1	0	0
PPFIA2	8499	broad.mit.edu	37	12	81741370	81741370	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr12:81741370G>A	ENST00000550584.2	-	17	2469	c.2174C>T	c.(2173-2175)cCa>cTa	p.P725L	PPFIA2_ENST00000552948.1_Missense_Mutation_p.P725L|PPFIA2_ENST00000541570.2_Missense_Mutation_p.P292L|PPFIA2_ENST00000541017.1_Intron|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000550359.2_Missense_Mutation_p.P572L|PPFIA2_ENST00000333447.7_Missense_Mutation_p.P707L|PPFIA2_ENST00000549325.1_Missense_Mutation_p.P707L|PPFIA2_ENST00000407050.4_Missense_Mutation_p.P651L|PPFIA2_ENST00000549396.1_Missense_Mutation_p.P725L|PPFIA2_ENST00000443686.3_Missense_Mutation_p.P626L|PPFIA2_ENST00000548586.1_Missense_Mutation_p.P725L	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	651										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						GGTGAGCTTTGGAGTTGAGTG	0.542000													20	84					0	0	1	0	0
NEURL4	84461	broad.mit.edu	37	17	7224974	7224974	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr17:7224974G>A	ENST00000399464.2	-	18	3019	c.3004C>T	c.(3004-3006)Cgg>Tgg	p.R1002W	NEURL4_ENST00000315614.7_Missense_Mutation_p.R1000W|NEURL4_ENST00000570460.1_Missense_Mutation_p.R978W	NM_032442.2	NP_115818.2			neuralized E3 ubiquitin protein ligase 4											central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GTCTTCGTCCGGAGCTCTGGC	0.647000													18	69					0	0	1	0	0
MASP2	10747	broad.mit.edu	37	1	11086950	11086950	+	Missense_Mutation	SNP	C	C	T	rs141174563	byFrequency	TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:11086950C>T	ENST00000400897.3	-	11	2068	c.2053G>A	c.(2053-2055)Gat>Aat	p.D685N		NM_006610.3	NP_006601.2	O00187	MASP2_HUMAN	mannan-binding lectin serine peptidase 2	685					complement activation, classical pathway|complement activation, lectin pathway|proteolysis	extracellular region	calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity			biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		AGTTAAAAATCACTAATTATG	0.418000													20	73					0	0	1	0	0
TRIM55	84675	broad.mit.edu	37	8	67040673	67040673	+	Silent	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr8:67040673G>A	ENST00000315962.4	+	2	676	c.303G>A	c.(301-303)gtG>gtA	p.V101V	TRIM55_ENST00000276573.7_Silent_p.V101V|TRIM55_ENST00000353317.5_Silent_p.V101V|TRIM55_ENST00000350034.4_Silent_p.V101V	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	101						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			ACCTGCTGGTGGAAAATATCA	0.473000													19	88					0	0	1	0	0
IMPDH1	3614	broad.mit.edu	37	7	128038624	128038624	+	Silent	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr7:128038624G>A	ENST00000338791.6	-	10	1268	c.918C>T	c.(916-918)atC>atT	p.I306I	IMPDH1_ENST00000470772.1_Silent_p.I220I|IMPDH1_ENST00000419067.2_Silent_p.I273I|IMPDH1_ENST00000378717.4_Silent_p.I237I|IMPDH1_ENST00000348127.6_Silent_p.I270I|IMPDH1_ENST00000343214.4_Silent_p.I196I|IMPDH1_ENST00000496200.1_Silent_p.I196I|IMPDH1_ENST00000480861.1_Silent_p.I216I|IMPDH1_ENST00000354269.5_Silent_p.I296I	NM_000883.3	NP_000874.2	P20839	IMDH1_HUMAN	IMP (inosine 5'-monophosphate) dehydrogenase 1	221					GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	DNA binding|IMP dehydrogenase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22					Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352)	TGCGGGCGATGATGGCCACCA	0.582000											OREG0018292	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	56	97					0	0	1	0	0
SMC4	10051	broad.mit.edu	37	3	160150895	160150895	+	Silent	SNP	A	A	G			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr3:160150895A>G	ENST00000357388.3	+	23	4063	c.3612A>G	c.(3610-3612)gtA>gtG	p.V1204V	SMC4_ENST00000462787.1_Silent_p.V1146V|TRIM59_ENST00000543469.1_3'UTR|SMC4_ENST00000344722.5_Silent_p.V1204V|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000469762.1_Silent_p.V1179V|SMC4_ENST00000360111.2_Silent_p.V1146V	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	1204	Ala/Asp-rich (DA-box).				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TGGCTTTAGTATTTGCTCTTC	0.368000													26	52					0	0	1	0	0
DET1	55070	broad.mit.edu	37	15	89074577	89074577	+	Silent	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr15:89074577G>A	ENST00000564406.1	-	3	553	c.393C>T	c.(391-393)ctC>ctT	p.L131L	DET1_ENST00000444300.1_Silent_p.L131L|DET1_ENST00000268148.8_Silent_p.L120L|DET1_ENST00000558413.1_Silent_p.L75L	NM_017996.3	NP_060466.2	Q7L5Y6	DET1_HUMAN	de-etiolated homolog 1 (Arabidopsis)	120						nucleus				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)			AGCGTTCAAAGAGCCGGCCCC	0.552000													20	19					0	0	1	0	0
PRICKLE1	144165	broad.mit.edu	37	12	42853913	42853913	+	Missense_Mutation	SNP	C	C	T	rs150287042	by1000genomes	TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr12:42853913C>T	ENST00000455697.1	-	8	2479	c.2194G>A	c.(2194-2196)Gga>Aga	p.G732R	PRICKLE1_ENST00000445766.2_Missense_Mutation_p.G732R|PRICKLE1_ENST00000548696.1_Missense_Mutation_p.G732R|PRICKLE1_ENST00000552240.1_Missense_Mutation_p.G732R|RP11-328C8.4_ENST00000547824.1_RNA|PRICKLE1_ENST00000345127.3_Missense_Mutation_p.G732R	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	732					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		GCGTACTGTCCGTAGAGATCA	0.498000													18	73					0	0	1	0	0
PHC3	80012	broad.mit.edu	37	3	169867026	169867026	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr3:169867026G>A	ENST00000494943.1	-	5	453	c.385C>T	c.(385-387)Ctc>Ttc	p.L129F	PHC3_ENST00000467570.1_Intron|PHC3_ENST00000495893.1_Missense_Mutation_p.L141F|PHC3_ENST00000474275.1_Missense_Mutation_p.L125F			Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)	129	Ser-rich.				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			GAAGTGGAGAGGTTGATCTAA	0.443000													5	15					0	0	1	0	0
HIST1H1B	3009	broad.mit.edu	37	6	27834900	27834900	+	Silent	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr6:27834900C>T	ENST00000331442.3	-	1	459	c.408G>A	c.(406-408)ggG>ggA	p.G136G		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	136					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						TAGGCGTGGCCCCCGCGGGCT	0.602000													71	156					0	0	1	0	0
SNTG2	54221	broad.mit.edu	37	2	1243538	1243538	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr2:1243538C>T	ENST00000308624.5	+	11	1007	c.878C>T	c.(877-879)cCt>cTt	p.P293L	SNTG2_ENST00000407292.1_Missense_Mutation_p.P166L	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	293					central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		TGCTGCTCTCCTTCCGACCAG	0.478000													5	11					0	0	1	0	0
NXF5	55998	broad.mit.edu	37	X	101095999	101095999	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chrX:101095999T>A	ENST00000537026.1	-	8	828	c.469A>T	c.(469-471)Aat>Tat	p.N157Y	NXF5_ENST00000473265.2_Missense_Mutation_p.N157Y|NXF5_ENST00000361708.2_Missense_Mutation_p.N157Y	NM_032946.2	NP_116564.2	Q9H1B4	NXF5_HUMAN	nuclear RNA export factor 5	157					mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nucleus	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						TCAGGGAAATTTCTTTCAGTG	0.478000													38	44					0	0	1	0	0
CYP4B1	1580	broad.mit.edu	37	1	47264920	47264920	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:47264920G>A	ENST00000271153.4	+	1	203	c.167G>A	c.(166-168)gGa>gAa	p.G56E	CYP4B1_ENST00000371919.4_Missense_Mutation_p.G56E|CYP4B1_ENST00000371923.4_Missense_Mutation_p.G56E|CYP4B1_ENST00000546128.1_Intron			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	56					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					TGGCTTTTTGGACATGCCCTC	0.567000													4	4					0	0	1	0	0
ERC2	26059	broad.mit.edu	37	3	56468625	56468625	+	Silent	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr3:56468625G>A	ENST00000288221.6	-	2	666	c.411C>T	c.(409-411)tcC>tcT	p.S137S		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	137						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		GCCTCAACATGGAGGGGACCT	0.507000													39	141					0	0	1	0	0
MYOCD	93649	broad.mit.edu	37	17	12666750	12666750	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr17:12666750C>T	ENST00000425538.1	+	14	2950	c.2750C>T	c.(2749-2751)tCa>tTa	p.S917L	MYOCD_ENST00000343344.4_Missense_Mutation_p.S869L|RP11-1090M7.1_ENST00000584772.1_RNA	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	869					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		ACACAGTTTTCACCCTCTTCT	0.522000													15	35					0	0	1	0	0
ZNF473	25888	broad.mit.edu	37	19	50548282	50548282	+	Silent	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr19:50548282C>T	ENST00000595661.1	+	6	1077	c.582C>T	c.(580-582)tcC>tcT	p.S194S	ZNF473_ENST00000445728.3_Silent_p.S182S|CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000601364.1_Intron|CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000391821.2_Silent_p.S194S|ZNF473_ENST00000270617.3_Silent_p.S194S			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	194					histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		TCTCCTACTCCGACCACAGCC	0.473000													22	31					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	123514403	123514403	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chrX:123514403C>T	ENST00000422452.2	-	32	8245	c.8182G>A	c.(8182-8184)Gaa>Aaa	p.E2728K	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Missense_Mutation_p.E2721K	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		CTGCCTATTTCGCTCTGTCTC	0.373000													17	17					0	0	1	0	0
OR4C6	219432	broad.mit.edu	37	11	55433518	55433518	+	Silent	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr11:55433518G>A	ENST00000314259.3	+	1	905	c.876G>A	c.(874-876)gtG>gtA	p.V292V		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	292					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						ATGCAGAGGTGAAAAGTGCCA	0.443000													8	37					0	0	1	0	0
SYNCRIP	10492	broad.mit.edu	37	6	86324800	86324800	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr6:86324800G>A	ENST00000355238.6	-	11	1752	c.1546C>T	c.(1546-1548)Cct>Tct	p.P516S	RP11-321N4.5_ENST00000503906.1_Silent_p.L51L|SYNCRIP_ENST00000369622.3_Missense_Mutation_p.P516S	NM_001159673.1|NM_001159674.1|NM_001159676.1|NM_001159677.1|NM_001253771.1	NP_001153145.1|NP_001153146.1|NP_001153148.1|NP_001153149.1|NP_001240700.1	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA interacting protein	516	8 X 3 AA repeats of R-G-G.|Interaction with APOBEC1.				CRD-mediated mRNA stabilization|interspecies interaction between organisms	catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm	nucleotide binding|protein binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		CCGCGGGGAGGAGCAGCCCCA	0.572000													78	117					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76435239	76435239	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr17:76435239C>T	ENST00000389840.5	-	73	11820	c.11696G>A	c.(11695-11697)gGa>gAa	p.G3899E	DNAH17_ENST00000585328.1_Missense_Mutation_p.G3908E|DNAH17_ENST00000586052.1_5'UTR					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CACCTCTTGTCCCTGCCCCAG	0.493000													8	21					0	0	1	0	0
GABRR1	2569	broad.mit.edu	37	6	89895099	89895099	+	Silent	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr6:89895099C>T	ENST00000435811.1	-	6	1129	c.675G>A	c.(673-675)cgG>cgA	p.R225R	GABRR1_ENST00000454853.2_Silent_p.R242R|GABRR1_ENST00000369451.3_Silent_p.R155R	NM_001256703.1	NP_001243632.1	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	242					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)	AGAGTGAGATCCGTTCATCTG	0.488000													40	65					0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	228004923	228004923	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr2:228004923C>T	ENST00000396625.3	-	4	353	c.146G>A	c.(145-147)gGa>gAa	p.G49E	COL4A4_ENST00000329662.7_Missense_Mutation_p.G49E	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	49	7S domain.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GCAATCTCTTCCTCCACAAGG	0.413000													9	33					0	0	1	0	0
AP1B1	162	broad.mit.edu	37	22	29727892	29727892	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr22:29727892G>A	ENST00000357586.2	-	18	2509	c.2323C>T	c.(2323-2325)Ccc>Tcc	p.P775S	AP1B1_ENST00000415447.1_Missense_Mutation_p.P768S|AP1B1_ENST00000405198.1_Missense_Mutation_p.P775S|AP1B1_ENST00000402502.1_Missense_Mutation_p.P768S|AP1B1_ENST00000472057.1_5'UTR|AP1B1_ENST00000432560.2_Missense_Mutation_p.P768S|AP1B1_ENST00000356015.2_Missense_Mutation_p.P768S|AP1B1_ENST00000317368.7_Missense_Mutation_p.P748S	NM_001127.3	NP_001118.3	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	775					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GGGGTGGCGGGGGCCAGGCCA	0.677000													15	68					0	0	1	0	0
SLC22A16	85413	broad.mit.edu	37	6	110746229	110746229	+	Silent	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr6:110746229G>A	ENST00000368919.3	-	8	1647	c.1581C>T	c.(1579-1581)acC>acT	p.T527T	SLC22A16_ENST00000330550.4_Silent_p.T493T	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	527					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		GTTTCCCAAGGGTTTCTGGAA	0.408000													36	59					0	0	1	0	0
MVP	9961	broad.mit.edu	37	16	29853387	29853387	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr16:29853387G>A	ENST00000357402.5	+	10	1726	c.1588G>A	c.(1588-1590)Gaa>Aaa	p.E530K	MVP_ENST00000395353.1_Missense_Mutation_p.E530K	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	530					mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						CATCACCATCGAAACGGCGGA	0.612000													13	26					0	0	1	0	0
NXF1	10482	broad.mit.edu	37	11	62564692	62564692	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr11:62564692C>T	ENST00000532297.1	-	14	1770	c.1141G>A	c.(1141-1143)Gaa>Aaa	p.E381K	NXF1_ENST00000294172.2_Missense_Mutation_p.E381K|NXF1_ENST00000531709.2_3'UTR			Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1	381					gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TTCAAGTTTTCTGTTCCAAAA	0.498000													16	36					0	0	1	0	0
CEACAM20	125931	broad.mit.edu	37	19	45016928	45016928	+	RNA	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr19:45016928G>A	ENST00000454753.1	-	0	1790							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				TCACTTACCGGAACTGGGCTC	0.602000											OREG0025538	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	13					0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30705003	30705003	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr8:30705003C>T	ENST00000256246.2	-	1	1605	c.1531G>A	c.(1531-1533)Gaa>Aaa	p.E511K		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	511										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		CTGAAATTTTCGTTTGTATGA	0.303000													11	22					0	0	1	0	0
POM121L12	285877	broad.mit.edu	37	7	53103599	53103599	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr7:53103599G>A	ENST00000408890.4	+	1	251	c.235G>A	c.(235-237)Gag>Aag	p.E79K		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	79								p.E79K(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CCACCTCATCGAGGTGCGGCC	0.711000													20	39					0	0	1	0	0
FBXO39	162517	broad.mit.edu	37	17	6684108	6684108	+	Silent	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr17:6684108G>A	ENST00000321535.4	+	2	1051	c.921G>A	c.(919-921)ccG>ccA	p.P307P		NM_153230.2	NP_694962.1	Q8N4B4	FBX39_HUMAN	F-box protein 39	307								p.P307P(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	26						AGGAGATCCCGATCAGGAGCA	0.532000													9	23					0	0	1	0	0
CACNA1F	778	broad.mit.edu	37	X	49063547	49063547	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chrX:49063547G>A	ENST00000376265.2	-	44	5244	c.5183C>T	c.(5182-5184)aCc>aTc	p.T1728I	CACNA1F_ENST00000323022.5_Missense_Mutation_p.T1717I|CACNA1F_ENST00000376251.1_Missense_Mutation_p.T1663I	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1728					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	TTCTGGGATGGTGAAAATGAG	0.547000													4	2					0	0	1	0	0
PCDHGA5	56110	broad.mit.edu	37	5	140744722	140744722	+	Silent	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr5:140744722G>A	ENST00000518069.1	+	1	825	c.825G>A	c.(823-825)ggG>ggA	p.G275G	PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAATAAACGGGAAATTGACCT	0.478000													29	27					0	0	1	0	0
TSPEAR	54084	broad.mit.edu	37	21	45945695	45945695	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr21:45945695G>A	ENST00000323084.4	-	8	1242	c.1177C>T	c.(1177-1179)Cca>Tca	p.P393S	TSPEAR_ENST00000397916.1_Missense_Mutation_p.P325S|C21orf90_ENST00000465978.1_Intron	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	393					cell adhesion	extracellular region	structural molecule activity			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						TTCTCATCTGGTTCAAAATTA	0.512000													47	117					0	0	1	0	0
SLC1A2	6506	broad.mit.edu	37	11	35333994	35333994	+	Splice_Site	SNP	C	C	G			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr11:35333994C>G	ENST00000278379.3	-	4	594	c.310_splice	c.e4-1	p.G104_splice	SLC1A2_ENST00000395750.1_Splice_Site_p.G95_splice|SLC1A2_ENST00000606205.1_Splice_Site_p.G104_splice|SLC1A2_ENST00000395753.1_Splice_Site_p.G95_splice	NM_004171.3	NP_004162.2	P43004	EAA2_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 2	104					D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)		L-Glutamic Acid(DB00142)	GGCCTGACAACCCTGGATTGA	0.448000													12	30					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141571258	141571258	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr2:141571258T>A	ENST00000389484.3	-	32	6298	c.5327A>T	c.(5326-5328)gAa>gTa	p.E1776V		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1776					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTTTGTTAATTCTTCTTTCAT	0.363000										TSP Lung(27;0.18)			10	27					0	0	1	0	0
MEI1	150365	broad.mit.edu	37	22	42180657	42180657	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr22:42180657C>T	ENST00000401548.3	+	26	3255	c.3215C>T	c.(3214-3216)tCc>tTc	p.S1072F	MEI1_ENST00000476893.1_3'UTR|MEI1_ENST00000300398.4_Missense_Mutation_p.S80F|MEI1_ENST00000400107.1_Missense_Mutation_p.S405F	NM_152513.3	NP_689726.3	Q5TIA1	MEI1_HUMAN	meiosis inhibitor 1	1072							binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CAAAGCTTTTCCTCTGCCCTG	0.607000													11	23					0	0	1	0	0
GFRAL	389400	broad.mit.edu	37	6	55216206	55216206	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr6:55216206C>T	ENST00000340465.2	+	5	612	c.526C>T	c.(526-528)Caa>Taa	p.Q176*		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	176						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			GTTCTTCTATCAAAATATACC	0.433000													31	153					0	0	1	0	0
OR6K2	81448	broad.mit.edu	37	1	158670372	158670372	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:158670372G>A	ENST00000359610.2	-	1	114	c.71C>T	c.(70-72)tCt>tTt	p.S24F		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					GCAGACAACAGACTTAACCCA	0.443000													15	34					0	0	1	0	0
TPTE2	93492	broad.mit.edu	37	13	20012252	20012252	+	Missense_Mutation	SNP	C	C	T	rs140738972		TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr13:20012252C>T	ENST00000400230.2	-	14	1059	c.1015G>A	c.(1015-1017)Gaa>Aaa	p.E339K	TPTE2_ENST00000255310.6_Missense_Mutation_p.E262K|TPTE2_ENST00000382978.1_Missense_Mutation_p.E299K|TPTE2_ENST00000400103.2_Missense_Mutation_p.E228K|TPTE2_ENST00000382977.4_Missense_Mutation_p.E339K|TPTE2_ENST00000382975.4_Missense_Mutation_p.E299K|TPTE2_ENST00000457266.2_Missense_Mutation_p.E228K|TPTE2_ENST00000390680.2_Missense_Mutation_p.E262K			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	339	Phosphatase tensin-type.					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.E262K(5)|p.E339K(1)		NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		AAAAATATTTCGGAGGCAATA	0.368000													22	44					0	0	1	0	0
TELO2	9894	broad.mit.edu	37	16	1544462	1544462	+	Silent	SNP	G	G	T	rs146829780		TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr16:1544462G>T	ENST00000262319.6	+	2	459	c.180G>T	c.(178-180)tcG>tcT	p.S60S		NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	60						chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				CCCACTTCTCGCCTGTCCTCA	0.642000											OREG0023547	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	33	188					3.03874e-20	3.08642e-20	1	1	0
LRRC30	339291	broad.mit.edu	37	18	7231695	7231695	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr18:7231695G>A	ENST00000383467.2	+	1	573	c.559G>A	c.(559-561)Gaa>Aaa	p.E187K		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	187										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						CTCCCTGAAGGAACTGATTTT	0.547000													18	73					0	0	1	0	0
CPAMD8	27151	broad.mit.edu	37	19	17088325	17088325	+	Silent	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr19:17088325C>T	ENST00000443236.1	-	15	1783	c.1752G>A	c.(1750-1752)gaG>gaA	p.E584E	CPAMD8_ENST00000388925.4_Intron	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	537						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						ACACGTCGACCTCAGCTTCTG	0.592000													4	22					0	0	1	0	0
MROH7	374977	broad.mit.edu	37	1	55166821	55166821	+	Silent	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:55166821C>T	ENST00000414150.2	+	19	3389	c.3111C>T	c.(3109-3111)gcC>gcT	p.A1037A	MROH7_ENST00000454855.2_Silent_p.A555A|MROH7_ENST00000409996.1_Silent_p.A605A|MROH7_ENST00000421030.2_Silent_p.A1037A					maestro heat-like repeat family member 7																		CACAGACCGCCAAGGTGAAGG	0.567000													5	13					0	0	1	0	0
PTCRA	171558	broad.mit.edu	37	6	42890791	42890791	+	Silent	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr6:42890791C>T	ENST00000304672.1	+	2	166	c.85C>T	c.(85-87)Ctg>Ttg	p.L29L	PTCRA_ENST00000446507.1_Intron|PTCRA_ENST00000441198.1_Intron	NM_001243168.1|NM_138296.2	NP_001230097.1|NP_612153.2	Q6ISU1	PTCRA_HUMAN	pre T-cell antigen receptor alpha	29						integral to membrane	receptor activity			large_intestine(2)|lung(4)|ovary(2)	8	Colorectal(47;0.196)		all cancers(41;0.000731)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			CTTTCCTTCTCTGGCCCCACC	0.587000													39	52					0	0	1	0	0
PLXNB1	5364	broad.mit.edu	37	3	48452292	48452292	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr3:48452292G>A	ENST00000358536.4	-	29	5670	c.5401C>T	c.(5401-5403)Cgc>Tgc	p.R1801C	PLXNB1_ENST00000448774.2_Missense_Mutation_p.R412C|PLXNB1_ENST00000456774.1_Missense_Mutation_p.R1618C|PLXNB1_ENST00000358459.4_Missense_Mutation_p.R1618C|PLXNB1_ENST00000296440.6_Missense_Mutation_p.R1801C	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	1801					axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding	p.R1801C(1)		NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TCAAGGGTGCGAGGGTCTGGC	0.612000													7	12					0	0	1	0	0
SDC3	9672	broad.mit.edu	37	1	31349422	31349422	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:31349422G>A	ENST00000336798.7	-	1	2165	c.673C>T	c.(673-675)Cct>Tct	p.P225S	SDC3_ENST00000339394.6_Missense_Mutation_p.P283S			O75056	SDC3_HUMAN	syndecan 3	283	Ser/Thr-rich (mucin-like).					integral to membrane	cytoskeletal protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)		STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649)		GTGGGTCCAGGGGCAGTGGTC	0.682000													7	25					0	0	1	0	0
AMOT	154796	broad.mit.edu	37	X	112022805	112022805	+	Silent	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chrX:112022805G>A	ENST00000371959.3	-	10	2576	c.2577C>T	c.(2575-2577)agC>agT	p.S859S	AMOT_ENST00000524145.1_Silent_p.S859S|AMOT_ENST00000371962.1_Silent_p.S627S|AMOT_ENST00000304758.1_Silent_p.S450S	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN	angiomotin	859					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						TGCAGTCTCGGCTGCCTGTCT	0.587000													25	20					0	0	1	0	0
RPL10L	140801	broad.mit.edu	37	14	47120879	47120879	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr14:47120879G>A	ENST00000298283.3	-	1	149	c.61C>T	c.(61-63)Cgt>Tgt	p.R21C		NM_080746.2	NP_542784.1	Q96L21	RL10L_HUMAN	ribosomal protein L10-like	21					spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome	p.R21C(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						CGGCAGAAACGAGATTTTGGG	0.547000													26	107					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176709324	176709324	+	Silent	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:176709324G>A	ENST00000367662.3	+	14	5307	c.4143G>A	c.(4141-4143)caG>caA	p.Q1381Q		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1381					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						AGAATCATCAGGGACAGAGGT	0.473000													14	31					0	0	1	0	0
SPDEF	25803	broad.mit.edu	37	6	34511861	34511861	+	Silent	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr6:34511861G>A	ENST00000374037.3	-	2	786	c.372C>T	c.(370-372)tcC>tcT	p.S124S	SPDEF_ENST00000544425.1_Silent_p.S124S	NM_012391.2	NP_036523.1	O95238	SPDEF_HUMAN	SAM pointed domain containing ETS transcription factor	124					negative regulation of survival gene product expression|negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)	15						CCACCACCATGGACTGCACCT	0.637000													16	51					0	0	1	0	0
PLEKHA7	144100	broad.mit.edu	37	11	16838769	16838769	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr11:16838769C>T	ENST00000355661.3	-	11	1454	c.1444G>A	c.(1444-1446)Ggg>Agg	p.G482R	PLEKHA7_ENST00000448080.2_Missense_Mutation_p.G482R|PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.G482R			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	482					epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						GAGGAGCCCCCCGAGGGGTGT	0.622000													39	91					0	0	1	0	0
MAP3K5	4217	broad.mit.edu	37	6	136878955	136878955	+	Splice_Site	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr6:136878955C>T	ENST00000359015.4	-	30	4426	c.4064_splice	c.e30-1	p.G1356_splice	MAP3K5_ENST00000355845.4_Splice_Site_p.G603_splice	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	1356					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		AGCATCCCTCCCCTGTTTAAA	0.383000													15	31					0	0	1	0	0
RUNDC3B	154661	broad.mit.edu	37	7	87407149	87407149	+	Silent	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr7:87407149C>T	ENST00000338056.3	+	9	1296	c.885C>T	c.(883-885)aaC>aaT	p.N295N	RUNDC3B_ENST00000493037.1_Silent_p.N278N|RUNDC3B_ENST00000394654.3_Silent_p.N278N	NM_001134405.1|NM_138290.2	NP_001127877.1|NP_612147.1	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B	295										breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26	Esophageal squamous(14;0.00164)					TTCGAGAGAACCAACTATCTG	0.343000													8	12					0	0	1	0	0
VRTN	55237	broad.mit.edu	37	14	74824245	74824245	+	Silent	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr14:74824245C>T	ENST00000256362.4	+	2	1000	c.759C>T	c.(757-759)ggC>ggT	p.G253G		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	253					transposition, DNA-mediated		DNA binding|transposase activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						GTGCCCCTGGCGTGGCCCCAG	0.652000													45	63					0	0	1	0	0
ASIC1	41	broad.mit.edu	37	12	50471886	50471886	+	Silent	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr12:50471886C>T	ENST00000228468.4	+	5	1198	c.813C>T	c.(811-813)acC>acT	p.T271T	ASIC1_ENST00000552438.1_Silent_p.T305T|ASIC1_ENST00000447966.2_Silent_p.T271T	NM_020039.3	NP_064423.2	P78348	ACCN2_HUMAN	acid-sensing (proton-gated) ion channel 1	271					calcium ion transport|response to pH|signal transduction	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	GCTTCCAGACCTTTGTGGCCT	0.592000													43	157					0	0	1	0	0
MYLK	4638	broad.mit.edu	37	3	123444828	123444828	+	Silent	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr3:123444828C>T	ENST00000360772.3	-	13	1992	c.1614G>A	c.(1612-1614)cgG>cgA	p.R538R	MYLK_ENST00000360304.3_Silent_p.R538R|MYLK_ENST00000359169.1_Silent_p.R538R|MYLK_ENST00000475616.1_Silent_p.R538R|MYLK_ENST00000346322.5_Silent_p.R469R			Q15746	MYLK_HUMAN	myosin light chain kinase	538	Ig-like C2-type 4.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CTGGGGTCCCCCGTACGGAGC	0.627000													13	24					0	0	1	0	0
NTRK1	4914	broad.mit.edu	37	1	156849818	156849818	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:156849818C>T	ENST00000368196.3	+	15	2176	c.2056C>T	c.(2056-2058)Cgc>Tgc	p.R686C	NTRK1_ENST00000524377.1_Missense_Mutation_p.R692C|NTRK1_ENST00000358660.3_Missense_Mutation_p.R689C|NTRK1_ENST00000392302.2_Missense_Mutation_p.R656C|NTRK1_ENST00000531606.1_3'UTR	NM_001012331.1	NP_001012331.1	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	692	Protein kinase.				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.R692C(1)|p.R656C(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	GCTGCCCATTCGCTGGATGCC	0.647000			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)			17	53					0	0	1	0	0
CCDC137	339230	broad.mit.edu	37	17	79639161	79639161	+	Silent	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr17:79639161C>T	ENST00000329214.8	+	5	1039	c.636C>T	c.(634-636)ccC>ccT	p.P212P		NM_199287.2	NP_954981.1	Q6PK04	CC137_HUMAN	coiled-coil domain containing 137	212										NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(2)	12	all_neural(118;0.0878)|all_lung(278;0.23)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			CTGCCAGGCCCCAGAGGAGCG	0.597000													5	27					0	0	1	0	0
RHOT1	55288	broad.mit.edu	37	17	30526561	30526561	+	Silent	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr17:30526561C>T	ENST00000358365.3	+	13	1319	c.1092C>T	c.(1090-1092)tcC>tcT	p.S364S	RHOT1_ENST00000583994.1_Silent_p.S237S|RHOT1_ENST00000354266.3_Silent_p.S343S|RHOT1_ENST00000545287.2_Silent_p.S364S|RHOT1_ENST00000581094.1_Silent_p.S364S|RHOT1_ENST00000394692.2_Silent_p.S364S|RHOT1_ENST00000333942.6_Silent_p.S364S	NM_001033568.1	NP_001028740.1	Q8IXI2	MIRO1_HUMAN	ras homolog family member T1	364					apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding			NS(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)				GATTCCTTTCCCAGTGGACGT	0.388000													10	27					0	0	1	0	0
UGT3A2	167127	broad.mit.edu	37	5	36039616	36039616	+	Silent	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr5:36039616C>T	ENST00000282507.3	-	5	1139	c.1038G>A	c.(1036-1038)gtG>gtA	p.V346V	UGT3A2_ENST00000513300.1_Silent_p.V312V|UGT3A2_ENST00000545528.1_Silent_p.V44V	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	346						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CCACAATTTTCACATTTGCAG	0.532000													17	63					0	0	1	0	0
ACSM2B	348158	broad.mit.edu	37	16	20566767	20566767	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr16:20566767C>T	ENST00000329697.6	-	4	588	c.420G>A	c.(418-420)atG>atA	p.M140I	ACSM2B_ENST00000567001.1_Missense_Mutation_p.M140I|ACSM2B_ENST00000565232.1_Missense_Mutation_p.M140I|ACSM2B_ENST00000565322.1_Missense_Mutation_p.M61I|ACSM2B_ENST00000414188.2_Missense_Mutation_p.M140I	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	140					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						CAGTGGATTTCATCTGGATGG	0.428000													14	56					0	0	1	0	0
MDN1	23195	broad.mit.edu	37	6	90472215	90472215	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr6:90472215G>A	ENST00000369393.3	-	16	2294	c.2179C>T	c.(2179-2181)Ccc>Tcc	p.P727S	MDN1_ENST00000428876.1_Missense_Mutation_p.P727S			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	727					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TCCCGTAAGGGTAGCCAAATA	0.413000													13	49					0	0	1	0	0
HLA-DQB2	3120	broad.mit.edu	37	6	32729552	32729552	+	Silent	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr6:32729552C>T	ENST00000435145.2	-	2	310	c.249G>A	c.(247-249)cgG>cgA	p.R83R	HLA-DQB2_ENST00000437316.2_Silent_p.R83R|HLA-DQB2_ENST00000411527.1_Silent_p.R83R			Q5SR06	Q5SR06_HUMAN	major histocompatibility complex, class II, DQ beta 2	83					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	integral to membrane|MHC class II protein complex				endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						CCTCGATGCTCCGCCCCAGCT	0.627000													7	16					0	0	1	0	0
RCAN3	11123	broad.mit.edu	37	1	24859646	24859646	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:24859646C>T	ENST00000374395.4	+	4	756	c.443C>T	c.(442-444)tCc>tTc	p.S148F	RCAN3_ENST00000412742.2_Intron|RCAN3_ENST00000374393.2_Intron|RCAN3_ENST00000538532.1_Missense_Mutation_p.S90F|RCAN3_ENST00000436717.2_Missense_Mutation_p.S138F	NM_001251978.1|NM_001251979.1|NM_001251984.1	NP_001238907.1|NP_001238908.1|NP_001238913.1	Q9UKA8	RCAN3_HUMAN	RCAN family member 3	148					anatomical structure morphogenesis|calcium-mediated signaling		nucleotide binding|RNA binding|troponin I binding			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)	7		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00473)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0427)|OV - Ovarian serous cystadenocarcinoma(117;1.13e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;0.000923)|BRCA - Breast invasive adenocarcinoma(304;0.0018)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.00493)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.14)		TTCCTCATCTCCCCTCCAGCC	0.567000													11	28					0	0	1	0	0
GJA5	2702	broad.mit.edu	37	1	147230292	147230292	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:147230292C>T	ENST00000271348.2	-	2	1216	c.1055G>A	c.(1054-1056)aGg>aAg	p.R352K	RP11-433J22.2_ENST00000428911.1_RNA|GJA5_ENST00000369237.1_Missense_Mutation_p.R352K	NM_005266.5|NM_181703.2	NP_005257.2|NP_859054.1	P36382	CXA5_HUMAN	gap junction protein, alpha 5, 40kDa	352					angiogenesis|cell-cell junction assembly|muscle contraction	integral to membrane				breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			GTCATCTGACCTTGCCTTGCT	0.537000													12	51					0	0	1	0	0
DYNAP	284254	broad.mit.edu	37	18	52265079	52265079	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr18:52265079G>A	ENST00000321600.1	+	3	382	c.336G>A	c.(334-336)tgG>tgA	p.W112*	DYNAP_ENST00000585973.1_Nonsense_Mutation_p.W60*	NM_173629.1	NP_775900.1			dynactin associated protein																		GGTCTATGTGGAAAGTCTTCC	0.353000													14	33					0	0	1	0	0
HLCS	3141	broad.mit.edu	37	21	38137356	38137356	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr21:38137356G>A	ENST00000399120.1	-	9	2867	c.1637C>T	c.(1636-1638)tCc>tTc	p.S546F	HLCS_ENST00000336648.3_Missense_Mutation_p.S546F	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	546					cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	GACAGCCACGGACATCAGATG	0.532000													14	44					0	0	1	0	0
GUCY2D	3000	broad.mit.edu	37	17	7915821	7915821	+	Silent	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr17:7915821G>A	ENST00000254854.4	+	10	2160	c.2010G>A	c.(2008-2010)cgG>cgA	p.R670R		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	670	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			skin(1)	1		Prostate(122;0.157)				TGAAGTCACGGAACTGCATAG	0.582000													16	84					0	0	1	0	0
SOX17	64321	broad.mit.edu	37	8	55370819	55370819	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr8:55370819G>A	ENST00000297316.4	+	1	325	c.121G>A	c.(121-123)Gac>Aac	p.D41N		NM_022454.3	NP_071899.1	Q9H6I2	SOX17_HUMAN	SRY (sex determining region Y)-box 17	41					angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis|Wnt receptor signaling pathway	transcription factor complex	beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			endometrium(6)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)	18		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)			CCCCATCGGGGACATGAAGGT	0.741000													19	16					0	0	1	0	0
PGM1	5236	broad.mit.edu	37	1	64089131	64089131	+	Translation_Start_Site	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:64089131G>A	ENST00000371083.4	+	0	368				PGM1_ENST00000371084.3_Intron|PGM1_ENST00000540265.1_Intron	NM_001172818.1	NP_001166289.1	P36871	PGM1_HUMAN	phosphoglucomutase 1						cellular calcium ion homeostasis|galactose catabolic process|glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						GGAAGTGAAGGATGAGTGATT	0.473000													17	58					0	0	1	0	0
ILDR1	286676	broad.mit.edu	37	3	121712461	121712461	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr3:121712461C>T	ENST00000273691.3	-	6	1108	c.1003G>A	c.(1003-1005)Gag>Aag	p.E335K	ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000344209.5_Missense_Mutation_p.E379K|ILDR1_ENST00000393631.1_Missense_Mutation_p.E290K|ILDR1_ENST00000462014.1_Missense_Mutation_p.E347K	NM_175924.3	NP_787120.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	379						cytosol|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		TCCTGGAGCTCCTGGTGGAAA	0.602000													15	55					0	0	1	0	0
CAMSAP2	23271	broad.mit.edu	37	1	200818824	200818824	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:200818824G>A	ENST00000358823.2	+	11	3197	c.2927G>A	c.(2926-2928)aGg>aAg	p.R976K	CAMSAP2_ENST00000413307.2_Missense_Mutation_p.R960K|CAMSAP2_ENST00000236925.4_Missense_Mutation_p.R987K	NM_203459.1	NP_982284.1	Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	987						cytoplasm|microtubule	protein binding										AAAAGTCAAAGGACTCCTAGG	0.458000													26	58					0	0	1	0	0
CRISP1	167	broad.mit.edu	37	6	49819840	49819840	+	Silent	SNP	C	C	T	rs138699394	byFrequency	TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr6:49819840C>T	ENST00000335847.4	-	3	170	c.69G>A	c.(67-69)aaG>aaA	p.K23K	CRISP1_ENST00000329411.5_Silent_p.K23K|CRISP1_ENST00000507853.1_Silent_p.K23K|CRISP1_ENST00000536021.1_Silent_p.K23K|CRISP1_ENST00000505118.1_Silent_p.K23K|CRISP1_ENST00000355791.2_Silent_p.K23K	NM_001131.2	NP_001122.2	P54107	CRIS1_HUMAN	cysteine-rich secretory protein 1	23					fusion of sperm to egg plasma membrane	extracellular space				endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0358)					TAGCTGATTTCTTCTGTTACC	0.333000													23	36					0	0	1	0	0
SLC6A18	348932	broad.mit.edu	37	5	1240715	1240715	+	Silent	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr5:1240715C>T	ENST00000324642.3	+	7	1038	c.915C>T	c.(913-915)atC>atT	p.I305I	SLC6A18_ENST00000296821.4_Silent_p.I300I	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	305					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			ACGCGTCCATCGCTGTCTTCT	0.597000													9	74					0	0	1	0	0
CBLN2	147381	broad.mit.edu	37	18	70205504	70205504	+	Silent	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr18:70205504C>T	ENST00000269503.4	-	5	1355	c.582G>A	c.(580-582)agG>agA	p.R194R	CBLN2_ENST00000585159.1_Silent_p.R194R|CBLN2_ENST00000581073.1_Silent_p.R80R|CBLN2_ENST00000583651.1_5'UTR|CBLN2_ENST00000584764.1_Silent_p.R78R	NM_182511.3	NP_872317.1	Q8IUK8	CBLN2_HUMAN	cerebellin 2 precursor	194	C1q.					integral to membrane				endometrium(2)|lung(15)	17		Esophageal squamous(42;0.131)				CTTTGTCTTCCCTTTCCATGA	0.502000													19	65					0	0	1	0	0
TAF1	6872	broad.mit.edu	37	X	70587971	70587971	+	Silent	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chrX:70587971C>T	ENST00000449580.1	+	3	414	c.363C>T	c.(361-363)agC>agT	p.S121S	TAF1_ENST00000423759.1_Silent_p.S121S|TAF1_ENST00000373790.4_Silent_p.S121S|TAF1_ENST00000276072.3_Silent_p.S121S			P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	121	Protein kinase 1.				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				AAGATGAAAGCCGAAGATACC	0.478000													30	29					0	0	1	0	0
NOMO1	23420	broad.mit.edu	37	16	14972645	14972645	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr16:14972645C>T	ENST00000287667.7	+	23	2882	c.2711C>T	c.(2710-2712)tCc>tTc	p.S904F		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	904						integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						CTGTTTCGTTCCAACCTCTTG	0.537000													28	217					0	0	1	0	0
ALG6	29929	broad.mit.edu	37	1	63868001	63868001	+	Silent	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:63868001C>T	ENST00000371108.4	+	4	549	c.244C>T	c.(244-246)Cta>Tta	p.L82L	ALG6_ENST00000263440.4_Silent_p.L82L	NM_013339.3	NP_037471.2	Q9Y672	ALG6_HUMAN	ALG6, alpha-1,3-glucosyltransferase	82					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						TCATAGTCTCCTATGTGCATA	0.343000													4	26					0	0	1	0	0
OR10H2	26538	broad.mit.edu	37	19	15839084	15839084	+	Silent	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr19:15839084C>T	ENST00000305899.3	+	1	251	c.231C>T	c.(229-231)atC>atT	p.I77I		NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H, member 2	77					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					CCGTGGCCATCATCCCGCGCA	0.622000													42	72					0	0	1	0	0
PTPRN2	5799	broad.mit.edu	37	7	157388004	157388004	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr7:157388004C>T	ENST00000389413.3	-	16	2438	c.2335G>A	c.(2335-2337)Gat>Aat	p.D779N	PTPRN2_ENST00000409483.1_Missense_Mutation_p.D770N|PTPRN2_ENST00000389418.4_Missense_Mutation_p.D808N|PTPRN2_ENST00000389416.4_Missense_Mutation_p.D791N|PTPRN2_ENST00000404321.2_Missense_Mutation_p.D831N	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	808	Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		GGGTCGTGATCCATCTGCAGA	0.542000													37	70					0	0	1	0	0
IGHA2	3494	broad.mit.edu	37	14	106054159	106054159	+	RNA	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr14:106054159G>A	ENST00000390539.2	-	0	359																											GGTCCTCGAGGGCCGGTCGGT	0.647000													8	8					0	0	1	0	0
ATP2B4	493	broad.mit.edu	37	1	203680232	203680232	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:203680232C>T	ENST00000357681.5	+	12	3150	c.2027C>T	c.(2026-2028)cCa>cTa	p.P676L	ATP2B4_ENST00000367218.3_Missense_Mutation_p.P676L|ATP2B4_ENST00000341360.2_Missense_Mutation_p.P676L|ATP2B4_ENST00000367219.3_Missense_Mutation_p.P664L|ATP2B4_ENST00000391954.2_Missense_Mutation_p.P676L	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	676					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CCTGTGCGCCCAGAGGTGAGA	0.572000													14	48					0	0	1	0	0
GABPB2	126626	broad.mit.edu	37	1	151062994	151062994	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:151062994C>T	ENST00000368918.3	+	3	552	c.221C>T	c.(220-222)cCc>cTc	p.P74L	GABPB2_ENST00000368917.1_Missense_Mutation_p.P74L|GABPB2_ENST00000368916.1_Missense_Mutation_p.P74L	NM_144618.2	NP_653219.1	Q8TAK5	GABP2_HUMAN	GA binding protein transcription factor, beta subunit 2	74					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	protein heterodimerization activity|transcription regulatory region DNA binding			breast(1)|endometrium(2)|large_intestine(3)|liver(2)|lung(7)	15				all cancers(107;7.17e-05)|GBM - Glioblastoma multiforme(94;0.000662)		GACAGGACCCCCTTGCACATG	0.517000													18	44					0	0	1	0	0
MAEL	84944	broad.mit.edu	37	1	166990350	166990350	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:166990350C>G	ENST00000367872.4	+	11	1314	c.1070C>G	c.(1069-1071)tCt>tGt	p.S357C	MAEL_ENST00000491055.1_3'UTR|MAEL_ENST00000367870.2_Missense_Mutation_p.S326C	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	357					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						TCAGGATTCTCTCATTTCAAC	0.358000													7	18					0	0	1	0	0
GKN2	200504	broad.mit.edu	37	2	69174358	69174358	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr2:69174358C>T	ENST00000481498.1	-	4	254	c.236G>A	c.(235-237)aGa>aAa	p.R79K	GKN2_ENST00000328895.4_Missense_Mutation_p.R79K			Q86XP6	GKN2_HUMAN	gastrokine 2	79	BRICHOS.					extracellular region				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	15						AAAGCAGGCTCTTCGGGAGAG	0.483000													12	47					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3200918	3200918	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr8:3200918C>T	ENST00000602557.1	-	24	4087	c.3532G>A	c.(3532-3534)Gaa>Aaa	p.E1178K	CSMD1_ENST00000542608.1_Missense_Mutation_p.E1177K|CSMD1_ENST00000539096.1_Missense_Mutation_p.E1177K|CSMD1_ENST00000537824.1_Missense_Mutation_p.E1177K|CSMD1_ENST00000602723.1_Missense_Mutation_p.E1178K|CSMD1_ENST00000520002.1_Missense_Mutation_p.E1178K|CSMD1_ENST00000400186.3_Missense_Mutation_p.E1178K			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1178	CUB 7.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CCCAGAAGTTCATTTTTAGTG	0.453000													16	36					0	0	1	0	0
BPIFB2	80341	broad.mit.edu	37	20	31601743	31601743	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr20:31601743G>A	ENST00000170150.3	+	5	631	c.436G>A	c.(436-438)Gag>Aag	p.E146K		NM_025227.1	NP_079503.1	Q8N4F0	BPIL1_HUMAN	BPI fold containing family B, member 2	146						extracellular region	lipid binding										CCACGCCAACGAGTTTGATGG	0.597000													6	34					0	0	1	0	0
ZNF479	90827	broad.mit.edu	37	7	57188167	57188167	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr7:57188167G>A	ENST00000331162.4	-	5	1225	c.955C>T	c.(955-957)Cat>Tat	p.H319Y		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	319					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H319N(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TCTCCAGTATGAATTCTCTTG	0.438000													18	33					0	0	1	0	0
VASN	114990	broad.mit.edu	37	16	4432028	4432028	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr16:4432028G>A	ENST00000304735.3	+	2	1305	c.1150G>A	c.(1150-1152)Gag>Aag	p.E384K	CORO7_ENST00000537233.2_Intron|CORO7_ENST00000574025.1_Intron|CORO7_ENST00000539968.1_Intron|CORO7-PAM16_ENST00000572467.1_Intron|CORO7_ENST00000251166.4_Intron|CORO7_ENST00000423908.2_Intron	NM_138440.2	NP_612449.2	Q6EMK4	VASN_HUMAN	vasorin	384			E -> A (in dbSNP:rs3810818).			extracellular region|integral to membrane				breast(1)|lung(3)|prostate(1)|skin(1)	6						TAGCCCCACAGAGCCGGCCAC	0.692000													14	11					0	0	1	0	0
VPS51	738	broad.mit.edu	37	11	64876824	64876824	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr11:64876824C>T	ENST00000279281.3	+	6	1608	c.1516C>T	c.(1516-1518)Cag>Tag	p.Q506*	VPS51_ENST00000527646.1_3'UTR	NM_013265.2	NP_037397.2			vacuolar protein sorting 51 homolog (S. cerevisiae)																		CCAGACGGCTCAGAGCTTCTG	0.642000													30	50					0	0	1	0	0
RNF135	84282	broad.mit.edu	37	17	29326074	29326074	+	Silent	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr17:29326074C>T	ENST00000328381.5	+	5	2037	c.1164C>T	c.(1162-1164)gcC>gcT	p.A388A	RNF135_ENST00000443677.2_3'UTR|RNF135_ENST00000535306.2_3'UTR|RNF135_ENST00000324689.4_3'UTR	NM_032322.3	NP_115698.3	Q8IUD6	RN135_HUMAN	ring finger protein 135	388	B30.2/SPRY.				innate immune response|negative regulation of type I interferon production|positive regulation of interferon-beta production|regulation of innate immune response	cytosol	protein binding|ribonucleoprotein binding|ubiquitin-protein ligase activity|zinc ion binding	p.?(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1)	10		all_cancers(10;8.65e-08)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Myeloproliferative disorder(56;0.0255)				GAAAGCTTGCCTTCTATTCAG	0.532000													21	34					0	0	1	0	0
SHBG	6462	broad.mit.edu	37	17	7534037	7534037	+	Silent	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr17:7534037G>A	ENST00000380450.4	+	3	274	c.243G>A	c.(241-243)gaG>gaA	p.E81E	SHBG_ENST00000416273.3_Silent_p.E81E|SHBG_ENST00000570547.1_Silent_p.E23E|SHBG_ENST00000575314.1_Silent_p.E23E|SHBG_ENST00000441599.2_Silent_p.E81E|SHBG_ENST00000576478.1_Silent_p.E23E|SHBG_ENST00000576728.1_Silent_p.E23E|SHBG_ENST00000575903.1_Silent_p.E81E|SHBG_ENST00000340624.5_Silent_p.E23E|SHBG_ENST00000574539.1_Silent_p.E23E|SHBG_ENST00000572182.1_Silent_p.E23E|SHBG_ENST00000572262.1_Silent_p.E23E	NM_001040.3	NP_001031.2	P04278	SHBG_HUMAN	sex hormone-binding globulin	81	Laminin G-like 1.				hormone transport	extracellular region	androgen binding|protein homodimerization activity	p.?(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_cancers(10;0.0867)		READ - Rectum adenocarcinoma(115;0.168)	Danazol(DB01406)|Dromostanolone(DB00858)|Estradiol(DB00783)|Estrone(DB00655)|Fluoxymesterone(DB01185)|Hydrocortisone(DB00741)|Mitotane(DB00648)|Norethindrone(DB00717)|Testosterone(DB00624)	GGGACCCAGAGGGAGTGATTT	0.512000													6	30					0	0	1	0	0
ANGEL1	23357	broad.mit.edu	37	14	77255635	77255635	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr14:77255635G>A	ENST00000251089.2	-	10	2061	c.1949C>T	c.(1948-1950)cCc>cTc	p.P650L	ANGEL1_ENST00000557179.1_Missense_Mutation_p.P215L	NM_015305.3	NP_056120.2	Q9UNK9	ANGE1_HUMAN	angel homolog 1 (Drosophila)	650										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		AGAGCAGAAGGGGTTGGGTAA	0.567000													26	136					0	0	1	0	0
NTRK3	4916	broad.mit.edu	37	15	88522627	88522627	+	Silent	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr15:88522627G>A	ENST00000317501.3	-	15	1949	c.1788C>T	c.(1786-1788)atC>atT	p.I596I	NTRK3_ENST00000557856.1_Intron|NTRK3_ENST00000355254.2_Intron|NTRK3_ENST00000558306.1_5'UTR|NTRK3_ENST00000542733.2_Intron|NTRK3_ENST00000357724.2_Intron|NTRK3_ENST00000540489.2_Silent_p.I596I|NTRK3_ENST00000394480.1_Intron|NTRK3_ENST00000360948.2_Intron|NTRK3_ENST00000558676.1_Intron	NM_001007156.2	NP_001007157.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	0	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			CCTCAACATAGATGCCATGGT	0.373000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			57	55					0	0	1	0	0
C1QL2	165257	broad.mit.edu	37	2	119915315	119915315	+	Silent	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr2:119915315G>A	ENST00000272520.3	-	1	1150	c.531C>T	c.(529-531)ttC>ttT	p.F177F		NM_182528.3	NP_872334.2	Q7Z5L3	C1QL2_HUMAN	complement component 1, q subcomponent-like 2	177	C1q.					collagen				NS(1)|endometrium(1)|large_intestine(3)|pancreas(1)|prostate(1)	7						CCACGTCATCGAACTTCAGCA	0.577000										HNSCC(49;0.14)			9	29					0	0	1	0	0
TCF20	6942	broad.mit.edu	37	22	42557354	42557354	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr22:42557354C>T	ENST00000335626.4	-	4	5944	c.5810G>A	c.(5809-5811)tGg>tAg	p.W1937*	TCF20_ENST00000359486.3_3'UTR|TCF20_ENST00000404876.1_3'UTR	NM_181492.1	NP_852469.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						TTCTCATCTCCACAGTCTCAC	0.642000													27	45					0	0	1	0	0
NYAP2	57624	broad.mit.edu	37	2	226447447	226447447	+	Silent	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr2:226447447C>T	ENST00000272907.6	+	4	1727	c.1314C>T	c.(1312-1314)tcC>tcT	p.S438S	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	438	Pro-rich.																CCTCTCCCTCCCCCGTCAGCA	0.642000													11	36					0	0	1	0	0
TMEM63C	57156	broad.mit.edu	37	14	77723022	77723022	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr14:77723022C>T	ENST00000298351.4	+	24	2518	c.2374C>T	c.(2374-2376)Cag>Tag	p.Q792*		NM_020431.2	NP_065164.2	Q9P1W3	TM63C_HUMAN	transmembrane protein 63C	792						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		AGACTCGGCCCAGTTCCAGGA	0.627000													29	88					0	0	1	0	0
HINFP	25988	broad.mit.edu	37	11	119002671	119002671	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr11:119002671C>T	ENST00000350777.2	+	5	718	c.655C>T	c.(655-657)Cgt>Tgt	p.R219C	HINFP_ENST00000527354.1_3'UTR|HINFP_ENST00000527410.1_Missense_Mutation_p.R219C	NM_001243259.1|NM_015517.4|NM_198971.2	NP_001230188.1|NP_056332.2|NP_945322.1	Q9BQA5	HINFP_HUMAN	histone H4 transcription factor	219					DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						AGATCACATCCGTCGCCAGAC	0.552000													15	44					0	0	1	0	0
MASTL	84930	broad.mit.edu	37	10	27459200	27459200	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr10:27459200C>T	ENST00000375946.4	+	8	1915	c.1312C>T	c.(1312-1314)Ctt>Ttt	p.L438F	MASTL_ENST00000477034.1_3'UTR|MASTL_ENST00000342386.6_Missense_Mutation_p.L438F|MASTL_ENST00000375940.4_Missense_Mutation_p.L438F	NM_001172303.1|NM_032844.3	NP_001165774.1|NP_116233.2	Q96GX5	GWL_HUMAN	microtubule associated serine/threonine kinase-like	438	Protein kinase.				cell division|G2/M transition of mitotic cell cycle|mitosis|negative regulation of protein phosphatase type 2A activity|regulation of cell cycle|response to DNA damage stimulus	centrosome|cleavage furrow|nucleus	ATP binding|protein phosphatase 2A binding|protein serine/threonine kinase activity			breast(3)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGAAGAGCACCTTGGGAAAAG	0.343000													31	25					0	0	1	0	0
PLD1	5337	broad.mit.edu	37	3	171452666	171452666	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr3:171452666G>A	ENST00000356327.5	-	5	599	c.529C>T	c.(529-531)Ctt>Ttt	p.L177F	PLD1_ENST00000351298.4_Missense_Mutation_p.L177F|PLD1_ENST00000342215.6_Missense_Mutation_p.L177F|PLD1_ENST00000340989.4_Missense_Mutation_p.L177F	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	177	PX.				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	CTTCTACCAAGGAATTGTTCT	0.438000													39	82					0	0	1	0	0
ARAP2	116984	broad.mit.edu	37	4	36168575	36168584	+	Frame_Shift_Del	DEL	ATTATTTCAA	ATTATTTCAA	-			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr4:36168575_36168584delATTATTTCAA	ENST00000303965.4	-	10	2432_2441	c.1943_1952delTTGAAATAAT	c.(1942-1953)tcfs	p.FEII648fs		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	648	PH 2.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						GTAGGGAGTGATTATTTCAAAAGATTGTTT	0.362													9	20	---	---	---	---					
PMS2P3	5387	broad.mit.edu	37	7	75145720	75145721	+	RNA	DEL	AT	AT	-			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr7:75145720_75145721delAT	ENST00000418756.1	-	0	618					NR_028059.1															lung(1)	1						TCCTTTGGGGatatatatatat	0.302													2	4	---	---	---	---					
RLN2	6019	broad.mit.edu	37	9	5304560	5304561	+	Frame_Shift_Ins	INS	-	-	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr9:5304560_5304561insA	ENST00000381627.3	-	1	408_409	c.20_21insT	c.(19-21)tcafs	p.S7fs	RLN2_ENST00000308420.3_Frame_Shift_Ins_p.S7fs	NM_134441.2	NP_604390.1	P04090	REL2_HUMAN	relaxin 2	7					female pregnancy	extracellular region	hormone activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	11	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.0987)		CTAGCAGGTGGAAAAAAAACAG	0.535													23	1283	---	---	---	---					
ASCL1	429	broad.mit.edu	37	12	103352172	103352174	+	In_Frame_Del	DEL	GCA	GCA	-	rs72405287		TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr12:103352172_103352174delGCA	ENST00000266744.3	+	1	709_711	c.150_152delGCA	c.(148-153)gcg>gc	p.AQ50del		NM_004316.3	NP_004307.2	P50553	ASCL1_HUMAN	achaete-scute family bHLH transcription factor 1	50					cerebral cortex GABAergic interneuron differentiation|negative regulation of apoptosis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|noradrenergic neuron fate commitment|Notch signaling pathway|positive regulation of neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|response to retinoic acid|sympathetic nervous system development	nucleus	bHLH transcription factor binding|E-box binding|sequence-specific DNA binding transcription factor activity|transcription factor binding transcription factor activity			NS(3)|large_intestine(1)|lung(1)	5						cgcagagcgcgcagcagcagcag	0.754													2	4	---	---	---	---					
POLG	5428	broad.mit.edu	37	15	89876828	89876830	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr15:89876828_89876830delTGC	ENST00000268124.5	-	2	489_491	c.156_158delGCA	c.(154-159)caa>ca	p.QQ54del	POLG_ENST00000442287.2_In_Frame_Del_p.QQ54del	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	54	Poly-Gln.				base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			aggctgctgttgctgctgctgct	0.690								DNA polymerases (catalytic subunits)					9	53	---	---	---	---					
CTC-260E6.6	0	broad.mit.edu	37	19	20405766	20405766	+	RNA	DEL	T	T	-			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr19:20405766delT	ENST00000593655.1	-	0	199																											GTGTTGAAAATTATTTTATTG	0.284													3	3	---	---	---	---					
NUDT11	55190	broad.mit.edu	37	X	51239296	51239309	+	Translation_Start_Site	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-	rs78182391		TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	ENST00000375992.3	-	0	139_152					NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11							cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)			6	5	---	---	---	---