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VARIANT EFFECT	FUNCTIONAL CLASS	IMPACT
MUTATION TYPE:	CHR: POS:

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SHOW ONLY VARIANTS PRESENT IN COMMON GENES BETWEEN ALL THE INDIVIDUALS SELECTED SHOW ONLY VARIANTS AT EXACTLY SAME POSITION BETWEEN ALL THE INDIVIDUALS SELECTED EXCLUDE ALL VARIANTS PRESENT IN LATEST DBSNP BUILD SHOW ONLY VARIANTS PRESENT AT HGMD

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1000 GENOMES FREQUENCY	EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES	DBSNP FREQUENCY	EXCLUDE ALL VARIANTS PRESENT IN DBSNP	ESP6500 FREQUENCY	EXCLUDE ALL VARIANTS PRESENT IN EXOME SEQUENCING PROJECT

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SIFT SCORE	EXCLUDE VARIANTS WITHOUT SIFT SCORE	POLYPHEN2 SCORE	EXCLUDE VARIANTS WITHOUT POLYPHEN SCORE
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+ Genes 13

Genes:
CASR, GNA11, KIF1B, KMT2D, MEN1, MERTK, MET, NF1, PDE11A, PDE8B, RET, SDHA, SDHB,

+ Genes associated with diseases 13

Genes at Omim

CASR, GNA11, KIF1B, KMT2D, MEN1, MERTK, MET, NF1, PDE11A, PDE8B, RET, SDHA, SDHB,

CASR	{Epilepsy idiopathic generalized, susceptibility to, 8}, 612899 (3) Hyperparathyroidism, neonatal, 239200 (3) Hypocalcemia, autosomal dominant, 601198 (3) Hypocalcemia, autosomal dominant, with Bartter syndrome, 601198 (3) Hypocalciuric hypercalcemia, type I, 145980 (3)
GNA11	Hypocalcemia, autosomal dominant 2, 615361 (3) Hypocalciuric hypercalcemia, type II, 145981 (3)
KIF1B	{Neuroblastoma, susceptibility to, 1}, 256700 (3) Pheochromocytoma, 171300 (3) ?Charcot-Marie-Tooth disease, type 2A1, 118210 (3)
KMT2D	Kabuki syndrome 1, 147920 (3)
MEN1	Adrenal adenoma, somatic (3) Angiofibroma, somatic (3) Carcinoid tumor of lung (3) Lipoma, somatic (3) Multiple endocrine neoplasia 1, 131100 (3) Parathyroid adenoma, somatic (3)
MERTK	Retinitis pigmentosa 38, 613862 (3)
MET	{Osteofibrous dysplasia, susceptibility to}, 607278 (3) Hepatocellular carcinoma, childhood type, somatic, 114550 (3) Renal cell carcinoma, papillary, 1, familial and somatic, 605074 (3) ?Deafness, autosomal recessive 97, 616705 (3)
NF1	Leukemia, juvenile myelomonocytic, 607785 (3) Neurofibromatosis, familial spinal, 162210 (3) Neurofibromatosis, type 1, 162200 (3) Neurofibromatosis-Noonan syndrome, 601321 (3) Watson syndrome, 193520 (3)
PDE11A	Pigmented nodular adrenocortical disease, primary, 2, 610475 (3)
PDE8B	Pigmented nodular adrenocortical disease, primary, 3, 614190 (3) Striatal degeneration, autosomal dominant, 609161 (3)
RET	Central hypoventilation syndrome, congenital, 209880 (3) {Hirschsprung disease, protection against}, 142623 (3) {Hirschsprung disease, susceptibility to, 1}, 142623 (3) Medullary thyroid carcinoma, 155240 (3) Multiple endocrine neoplasia IIA, 171400 (3) Multiple endocrine neoplasia IIB, 162300 (3) Pheochromocytoma, 171300 (3)
SDHA	Cardiomyopathy, dilated, 1GG, 613642 (3) Leigh syndrome, 256000 (3) Mitochondrial respiratory chain complex II deficiency, 252011 (3) Paragangliomas 5, 614165 (3)
SDHB	Gastrointestinal stromal tumor, 606764 (3) Paraganglioma and gastric stromal sarcoma, 606864 (3) Paragangliomas 4, 115310 (3) Pheochromocytoma, 171300 (3)

Genes at Clinical Genomics Database

CASR, GNA11, KIF1B, KMT2D, MEN1, MERTK, MET, NF1, PDE11A, PDE8B, RET, SDHA, SDHB,

CASR	Hyperparathyroidism, neonatal Hypocalcemia, autosomal dominant Hypocalcemia, autosomal dominant, with Bartter syndrome Hypocalciuric hypercalcemia, type I Hyperparathyroidism, neonatal severe primary Hypoparathyroidism, familial isolated Hyperparathyroidism, familial primary
GNA11	Hypocalcemia 2, autosomal dominant Hypocalciuric hypercalcemia, autosomal dominant
KIF1B	Neuroblastoma, susceptibility to Pheochromocytoma
KMT2D	Kabuki syndrome 1
MEN1	Multiple endocrine neoplasia type I Hyperparathyroidism, familial primary
MERTK	Retinitis pigmentosa 38
MET	Renal cell carcinoma, papillary Deafness, autosomal recessive 97
NF1	Neurofibromatosis type 1, Neurofibromatosis-Noonan syndrome Watson syndrome
PDE11A	Pigmented nodular adrenocortical disease, primary, 2
PDE8B	Pigmented nodular adrenocortical disease, primary, 3
RET	Central hypoventilation syndrome, congenital Multiple endocrine neoplasia, type IIA Multiple endocrine neoplasia IIB Medullary thyroid carcinoma, familial Pheochromocytoma Hirschsprung disease, susceptibility to 1
SDHA	Paragangliomas 5 Gastrointestinal stromal tumors Cardiomyopathy, dilated, 1GG Leigh syndrome/Mitochondrial respiratory chain complex II deficiency
SDHB	Cowden-like syndrome Paraganglioma and gastric stromal sarcoma Gastrointestinal stromal tumor Pheochromocytoma Paragangliomas 4

Genes at HGMD

Summary

Number of Variants: 30
Number of Genes: 13

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CASR
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	5840_s17	3	rs2036400 dbSNP Clinvar	122003045	39116.01	G	C	PASS	1/1	1700	SYNONYMOUS_CODING	LOW	None	0.97284	0.97280	0.02799				None None	None None None None	CASR\|0.90333935\|3.37%
GNA11
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	5840_s17	19	rs4900 dbSNP Clinvar	3119239	10428.01	C	T	PASS	0/1	1077	SYNONYMOUS_CODING	LOW	None	0.34884	0.34880	0.38221				None None	None None None None	None
KIF1B
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	5840_s17	1	rs12125492 dbSNP Clinvar	10421878	27584.01	A	G	PASS	1/1	1284	SYNONYMOUS_CODING	LOW	None	0.08027	0.08027	0.09034				None None	None None None None	None
KMT2D
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	5840_s17	12	rs10747559 dbSNP Clinvar	49434074	10522.01	C	A	PASS	0/1	1183	SYNONYMOUS_CODING	LOW	None	0.43550	0.43550	0.41650				None None	None None None None	KMT2D\|0.463434006\|17.49%
MEN1
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	5840_s17	11	rs540012 dbSNP Clinvar	64572557	33349.01	A	G	PASS	1/1	1464	SYNONYMOUS_CODING	LOW	None	0.97604	0.97600	0.02385				None None	None None None None	MEN1\|0.661753232\|9.63%
MERTK
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	5840_s17	2	rs3811634 dbSNP Clinvar	112754943	8831.01	C	T	PASS	0/1	970	SYNONYMOUS_CODING	LOW	None	0.19050	0.19050	0.24965			1.86	None None	None None None None	MERTK\|0.05411075\|61.44%
	View	5840_s17	2	rs1131244 dbSNP Clinvar	112765973	34089.01	A	G	PASS	1/1	1530	SYNONYMOUS_CODING	LOW	None	0.51518	0.51520	0.41219				None None	None None None None	MERTK\|0.05411075\|61.44%
MET
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	5840_s17	7	rs35775721 dbSNP Clinvar	116339672	12397.01	C	T	PASS	0/1	1250	SYNONYMOUS_CODING	LOW	None	0.08846	0.08846	0.06966				None None	None None None None	MET\|0.987477755\|1.18%
	View	5840_s17	7	rs41737 dbSNP Clinvar	116436097	12823.01	G	A	PASS	0/1	1422	SYNONYMOUS_CODING	LOW	None	0.35463	0.35460	0.32105				None None	None None None None	MET\|0.987477755\|1.18%
	View	5840_s17	7	rs2023748 dbSNP Clinvar	116436022	13855.01	G	A	PASS	0/1	1463	SYNONYMOUS_CODING	LOW	None	0.35383	0.35380	0.32250				None None	None None None None	MET\|0.987477755\|1.18%
	View	5840_s17	7	rs41736 dbSNP Clinvar	116435768	8983.01	C	T	PASS	0/1	979	SYNONYMOUS_CODING	LOW	None	0.35224	0.35220	0.32350				None None	None None None None	MET\|0.987477755\|1.18%
NF1
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	5840_s17	17	rs2285892 dbSNP Clinvar	29553485	5261.01	G	A	PASS	0/1	691	SYNONYMOUS_CODING	LOW	None	0.49681	0.49680	0.41635				None None	None None None None	NF1\|0.993936903\|0.88%
	View	5840_s17	17	rs1801052 dbSNP Clinvar	29508775	6500.01	G	A	PASS	0/1	630	SYNONYMOUS_CODING	LOW	None	0.51178	0.51180	0.42560				None None	None None None None	NF1\|0.993936903\|0.88%
PDE11A
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	5840_s17	2	rs1435573 dbSNP Clinvar	178936373	31090.01	T	G	PASS	1/1	1363	SYNONYMOUS_CODING	LOW	None	0.88738	0.88740	0.16615				None None	None None None None	PDE11A\|0.740114937\|7.36%
	View	5840_s17	2	rs6720891 dbSNP Clinvar	178682603	11602.01	T	C	PASS	0/1	1444	SYNONYMOUS_CODING	LOW	None	0.41813	0.41810	0.42319				None None	None None None None	PDE11A\|0.740114937\|7.36%
PDE8B
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	5840_s17	5	rs335614 dbSNP Clinvar	76708987	32007.01	A	G	PASS	1/1	1421	SYNONYMOUS_CODING	LOW	None	0.76518	0.76520	0.30486				None None	None None None None	PDE8B\|0.24086884\|32.36%
	View	5840_s17	5	rs186753 dbSNP Clinvar	76704849	20965.01	T	C	PASS	1/1	937	SYNONYMOUS_CODING	LOW	None							None None	None None None None	PDE8B\|0.24086884\|32.36%
RET
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	5840_s17	10	rs1800858 dbSNP Clinvar	43595968	24867.01	A	G	PASS	1/1	1102	SYNONYMOUS_CODING	LOW	None	0.75359	0.75360	0.19084				None None	None None None None	None
	View	5840_s17	10	rs1800860 dbSNP Clinvar	43606687	33032.01	A	G	PASS	1/1	1480	SYNONYMOUS_CODING	LOW	None	0.77516	0.77520	0.25142				None None	None None None None	None
	View	5840_s17	10	rs1800861 dbSNP Clinvar	43613843	41250.01	G	T	PASS	1/1	1838	SYNONYMOUS_CODING	LOW	None	0.71246	0.71250	0.19737				None None	None None None None	None
	View	5840_s17	10	rs1800863 dbSNP Clinvar	43615633	12239.01	C	G	PASS	0/1	1227	SYNONYMOUS_CODING	LOW	None	0.17252	0.17250	0.16095				None None	None None None None	None
SDHA
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	5840_s17	5	rs1139424 dbSNP Clinvar	224633	8712.01	A	G	PASS	0/1	851	SYNONYMOUS_CODING	LOW	None	0.24002	0.24000	0.25785				None None	None None None None	SDHA\|0.110561052\|49.09%
	View	5840_s17	5	rs6961 dbSNP Clinvar	256472	14904.01	G	A	PASS	0/1	1409	SYNONYMOUS_CODING	LOW	None	0.33526	0.33530	0.27826				None None	None None None None	SDHA\|0.110561052\|49.09%
	View	5840_s17	5	rs1042446 dbSNP Clinvar	256514	1691.01	G	C	LowVariantFreq	0/1	1594	SYNONYMOUS_CODING	LOW	None							None None	None None None None	SDHA\|0.110561052\|49.09%
	View	5840_s17	5	rs10039029,rs1139449 dbSNP Clinvar	251469	10643.01	G	A	PASS	0/1	1567	SYNONYMOUS_CODING	LOW	None	0.24840	0.24840					None None	None None None None	SDHA\|0.110561052\|49.09%
	View	5840_s17	5	rs13070 dbSNP Clinvar	251541	12713.01	A	G	PASS	0/1	1526	SYNONYMOUS_CODING	LOW	None	0.24840	0.24840	0.26957				None None	None None None None	SDHA\|0.110561052\|49.09%
	View	5840_s17	5	rs1041949 dbSNP Clinvar	233734	7334.01	C	G	PASS	0/1	861	SYNONYMOUS_CODING	LOW	None	0.25779	0.25780	0.28241				None None	None None None None	SDHA\|0.110561052\|49.09%
	View	5840_s17	5	rs1126417 dbSNP Clinvar	231111	8055.01	T	C	PASS	0/1	940	SYNONYMOUS_CODING	LOW	None	0.65336	0.65340	0.23131				None None	None None None None	SDHA\|0.110561052\|49.09%
	View	5840_s17	5	rs2115272 dbSNP Clinvar	228362	6234.01	T	C	PASS	0/1	657	SYNONYMOUS_CODING	LOW	None	0.24740	0.24740	0.27164				None None	None None None None	SDHA\|0.110561052\|49.09%
SDHB
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	5840_s17	1	rs2746462 dbSNP Clinvar	17380497	36510.01	G	T	PASS	1/1	1623	SYNONYMOUS_CODING	LOW	None	0.95707	0.95710	0.04853				None None	None None None None	SDHB\|0.616900215\|11.22%

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FREQUENCIES

SCORES

+ Genes 13

+ Genes associated with diseases 13

Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

CASR

GNA11

KIF1B

KMT2D

MEN1

MERTK

MET

NF1

PDE11A

PDE8B

RET

SDHA

SDHB

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